| Name | U6 snRNA biogenesis 1 |
| Description | This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nUSB1, encoded by the C16orf57 gene, is emerging as a critical exoribonuclease whose mutations underlie rare genodermatoses such as poikiloderma with neutropenia, dyskeratosis congenita, and overlapping syndromes. Initial genetic studies in affected families established C16orf57 as the disease‐causing gene and hinted at its connection to fundamental RNA regulatory processes."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nSubsequent functional and biochemical analyses in both yeast and human systems have revealed that USB1 acts as a distributive 3′–5′ exoribonuclease that trims the oligouridine tail of U6 small nuclear RNA (snRNA), thereby generating a terminal 2′,3′ cyclic phosphate group. USB1 preferentially removes 3′ adenosines over uridines and its catalytic activity is essential for stabilizing U6 snRNA and ensuring proper pre-mRNA splicing by protecting it from aberrant oligoadenylation. High‐resolution structural studies have classified USB1 as a member of the LigT-like superfamily of 2H phosphoesterases and detailed a precise molecular mechanism for its deadenylation and cyclic phosphate formation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "7", "end_ref": "15"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAdditional studies have linked dysfunctional USB1 activity not only to defects in U6 snRNA metabolism and subsequent splicing errors but also to broader cellular consequences including compromised RNA surveillance and aberrant microRNA adenylation that affects hematopoiesis. These defects may additionally perturb skin homeostasis and cell adhesion, contributing to the clinical manifestations observed in patients. Recent cellular models, genetic analyses, and transcriptomic studies underscore the essential housekeeping role of USB1 in RNA processing pathways, while also suggesting that modulation of related enzymatic activities could offer therapeutic potential."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "16", "end_ref": "22"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Ludovica Volpi, Gaia Roversi, Elisa Adele Colombo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2009.11.014"}], "href": "https://doi.org/10.1016/j.ajhg.2009.11.014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20004881"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20004881"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "D Concolino, G Roversi, G L Muzzi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.33600"}], "href": "https://doi.org/10.1002/ajmg.a.33600"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20734427"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20734427"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Amanda J Walne, Tom Vulliamy, Richard Beswick, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddq371"}], "href": "https://doi.org/10.1093/hmg/ddq371"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20817924"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20817924"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Carol Clericuzio, Karine Harutyunyan, Weidong Jin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.33807"}], "href": "https://doi.org/10.1002/ajmg.a.33807"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21271650"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21271650"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Rattanavalai Chantorn, Tor Shwayder "}, {"type": "b", "children": [{"type": "t", "text": "Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pediatr Dermatol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1525-1470.2011.01513.x"}], "href": "https://doi.org/10.1111/j.1525-1470.2011.01513.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21967010"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21967010"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Elisa A Colombo, J Fernando Bazan, Gloria Negri, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Orphanet J Rare Dis (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1750-1172-7-7"}], "href": "https://doi.org/10.1186/1750-1172-7-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22269211"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22269211"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Seweryn Mroczek, Joanna Krwawicz, Jan Kutner, et al. "}, {"type": "b", "children": [{"type": "t", "text": "C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Dev (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1101/gad.193169.112"}], "href": "https://doi.org/10.1101/gad.193169.112"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22899009"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22899009"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Vadim Shchepachev, Harry Wischnewski, Edoardo Missiaglia, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2012.08.031"}], "href": "https://doi.org/10.1016/j.celrep.2012.08.031"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23022480"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23022480"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Christine Hilcenko, Paul J Simpson, Andrew J Finch, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2012-10-461491"}], "href": "https://doi.org/10.1182/blood-2012-10-461491"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23190533"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23190533"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Vadim Shchepachev, Claus M Azzalin "}, {"type": "b", "children": [{"type": "t", "text": "The Mpn1 RNA exonuclease: cellular functions and implication in disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FEBS Lett (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.febslet.2013.05.005"}], "href": "https://doi.org/10.1016/j.febslet.2013.05.005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23684637"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23684637"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Vadim Shchepachev, Harry Wischnewski, Charlotte Soneson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human Mpn1 promotes post-transcriptional processing and stability of U6atac."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FEBS Lett (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.febslet.2015.06.046"}], "href": "https://doi.org/10.1016/j.febslet.2015.06.046"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26213367"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26213367"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Gloria Negri, Barbara Crescenzi, Elisa Adele Colombo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Br J Haematol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/bjh.13651"}], "href": "https://doi.org/10.1111/bjh.13651"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26306619"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26306619"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Amanda J Walne, Laura Collopy, Shirleny Cardoso, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Haematologica (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3324/haematol.2016.147769"}], "href": "https://doi.org/10.3324/haematol.2016.147769"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27612988"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27612988"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Ayoub Aglaguel, Houria Abdelghaffar, Fatima Ailal, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Poikiloderma with Neutropenia in Morocco: a Report of Four Cases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Immunol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10875-017-0385-7"}], "href": "https://doi.org/10.1007/s10875-017-0385-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28353165"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28353165"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Allison L Didychuk, Eric J Montemayor, Tucker J Carrocci, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Usb1 controls U6 snRNP assembly through evolutionarily divergent cyclic phosphodiesterase activities."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-017-00484-w"}], "href": "https://doi.org/10.1038/s41467-017-00484-w"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28887445"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28887445"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Rania Sakka, Bahri Mahjoub, Emna Kerkeni, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pediatr Blood Cancer (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/pbc.27262"}], "href": "https://doi.org/10.1002/pbc.27262"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29797650"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29797650"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Yuichiro Nomura, Daniel Roston, Eric J Montemayor, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structural and mechanistic basis for preferential deadenylation of U6 snRNA by Usb1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nucleic Acids Res (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/nar/gky812"}], "href": "https://doi.org/10.1093/nar/gky812"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30215753"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30215753"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Yuichiro Nomura, Eric J Montemayor, Johanna M Virta, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structural basis for the evolution of cyclic phosphodiesterase activity in the U6 snRNA exoribonuclease Usb1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nucleic Acids Res (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/nar/gkz1177"}], "href": "https://doi.org/10.1093/nar/gkz1177"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31832688"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31832688"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Anuradha Bishnoi, Manu Jamwal, Reena Das, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clericuzio-type poikiloderma with neutropenia in a patient from India."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.61943"}], "href": "https://doi.org/10.1002/ajmg.a.61943"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33111394"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33111394"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Matrix Biol (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.matbio.2021.05.002"}], "href": "https://doi.org/10.1016/j.matbio.2021.05.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34004352"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34004352"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Ho-Chang Jeong, Siddharth Shukla, Wilson Chun Fok, et al. "}, {"type": "b", "children": [{"type": "t", "text": "USB1 is a miRNA deadenylase that regulates hematopoietic development."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.abj8379"}], "href": "https://doi.org/10.1126/science.abj8379"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36862787"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36862787"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Prahlad Parajuli, Douglas B Craig, Manisha Gadgeel, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Defective monocyte plasticity and altered cAMP pathway characterize USB1-mutated poikiloderma with neutropenia Clericuzio type."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Br J Haematol (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/bjh.19128"}], "href": "https://doi.org/10.1111/bjh.19128"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37779259"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37779259"}]}]}]}
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| Synonyms | MPN1, HUSB1, C16ORF57, HVSL1 |
| Proteins | USB1_HUMAN |
| NCBI Gene ID | 79650 |
| API | |
| Download Associations | |
| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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USB1 has 6,745 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 98 datasets.
Click the + buttons to view associations for USB1 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of USB1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles | tissues with high or low expression of USB1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of USB1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray | tissue samples with high or low expression of USB1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset. | |
| Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq | tissue samples with high or low expression of USB1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset. | |
| Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of USB1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
| BioGPS Cell Line Gene Expression Profiles | cell lines with high or low expression of USB1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset. | |
| BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of USB1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. | |
| BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of USB1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. | |
| Carcinogenome Chemical Perturbation Carcinogenicity Signatures | small molecule perturbations changing expression of USB1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of USB1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
| CCLE Cell Line Gene Expression Profiles | cell lines with high or low expression of USB1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with USB1 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of USB1 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of USB1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of USB1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| ClinVar Gene-Phenotype Associations | phenotypes associated with USB1 gene from the curated ClinVar Gene-Phenotype Associations dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with USB1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of USB1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing USB1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing USB1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with USB1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with USB1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| CTD Gene-Chemical Interactions | chemicals interacting with USB1 gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
| CTD Gene-Disease Associations | diseases associated with USB1 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
| DeepCoverMOA Drug Mechanisms of Action | small molecule perturbations with high or low expression of USB1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by USB1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving USB1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with USB1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with USB1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with USB1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with USB1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with USB1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at USB1 gene from the ENCODE Histone Modification Site Profiles dataset. | |
| ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of USB1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of USB1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing USB1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
| GeneRIF Biological Term Annotations | biological terms co-occuring with USB1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
| GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing USB1 from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of USB1 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
| GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of USB1 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of USB1 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of USB1 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of USB1 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GO Biological Process Annotations 2015 | biological processes involving USB1 gene from the curated GO Biological Process Annotations 2015 dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving USB1 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving USB1 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2015 | cellular components containing USB1 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing USB1 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing USB1 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GO Molecular Function Annotations 2015 | molecular functions performed by USB1 gene from the curated GO Molecular Function Annotations 2015 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by USB1 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by USB1 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of USB1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of USB1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of USB1 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
| HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of USB1 gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
| HPA Tissue Gene Expression Profiles | tissues with high or low expression of USB1 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
| HPA Tissue Protein Expression Profiles | tissues with high or low expression of USB1 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
| HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of USB1 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
| HPO Gene-Disease Associations | phenotypes associated with USB1 gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. | |
| Hub Proteins Protein-Protein Interactions | interacting hub proteins for USB1 from the curated Hub Proteins Protein-Protein Interactions dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by USB1 gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| InterPro Predicted Protein Domain Annotations | protein domains predicted for USB1 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of USB1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of USB1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of USB1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
| Kinase Library Serine Threonine Kinome Atlas | kinases that phosphorylate USB1 protein from the Kinase Library Serine Threonine Atlas dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of USB1 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles | cell lines with high or low expression of USB1 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles | cell lines with USB1 gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. | |
| LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of USB1 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
| LINCS L1000 CMAP CRISPR Knockout Consensus Signatures | gene perturbations changing expression of USB1 gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain USB1 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by USB1 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| MiRTarBase microRNA Targets | microRNAs targeting USB1 gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of USB1 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of USB1 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| OMIM Gene-Disease Associations | phenotypes associated with USB1 gene from the curated OMIM Gene-Disease Associations dataset. | |
| Pathway Commons Protein-Protein Interactions | interacting proteins for USB1 from the Pathway Commons Protein-Protein Interactions dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of USB1 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations | gene perturbations changing expression of USB1 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of USB1 gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of USB1 gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of USB1 gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of USB1 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at USB1 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of USB1 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of USB1 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of USB1 gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of USB1 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of USB1 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
| TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of USB1 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of USB1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of USB1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of USB1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with USB1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with USB1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
