PUS7 Gene

Name	pseudouridylate synthase 7 (putative)
Description	Enables enzyme binding activity and tRNA pseudouridine(13) synthase activity. Involved in several processes, including pseudouridine synthesis; regulation of hematopoietic stem cell differentiation; and regulation of mesoderm development. Is active in nucleus. Implicated in intellectual developmental disorder with abnormal behavior, microcephaly, and short stature. [provided by Alliance of Genome Resources, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nHuman PUS7 is a pseudouridine synthase that catalyzes the isomerization of uridine to pseudouridine on target RNAs, playing a critical role in post‐transcriptional regulation. Recent large‐scale mapping studies have identified hundreds of pre‐mRNA pseudouridylation sites, with PUS7 along with other synthases actively modifying specific RNA substrates. Structural characterization of PUS7 reveals that, in contrast to its bacterial counterparts, it contains additional subdomains that mediate both sequence‐specific and structure‐specific RNA recognition; indeed, intact tRNA structure beyond just the consensus target motif is required for efficient modification by human PUS7."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMutations in PUS7 have been linked to neurodevelopmental disorders marked by intellectual disability and growth retardation, as demonstrated by familial studies showing reduced pseudouridylation (notably at position Ψ13 in tRNAs). In parallel, aberrant expression and function of PUS7 have emerged in solid tumors; studies in colorectal and colon cancer indicate that altered PUS7 levels are associated with enhanced cell metastasis and proliferation, with one report implicating PUS7 in the stabilization of SIRT1 and consequent activation of the Wnt/β‐catenin oncogenic pathway, while another work highlights its role in mediating pseudouridylation of ALKBH3 mRNA in gastric cancer. Additionally, loss‐of‐function variants in PUS7 have been associated with syndromic features overlapping neurodevelopmental impairment and behavioral abnormalities."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "3", "end_ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nFinally, emerging evidence supports that PUS7 also participates in protein–protein interactions; notably, it directly binds SIRT1 through its N‐terminal region, suggesting that its catalytic and regulatory activities may be integrated in broader cellular networks. Moreover, systematic pan‐cancer analyses further underscore its potential as a diagnostic and prognostic biomarker in diverse malignancies."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Nicole M Martinez, Amanda Su, Margaret C Burns, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Pseudouridine synthases modify human pre-mRNA co-transcriptionally and affect pre-mRNA processing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2021.12.023"}], "href": "https://doi.org/10.1016/j.molcel.2021.12.023"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35051350"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35051350"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Julia Guegueniat, Levon Halabelian, Hong Zeng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The human pseudouridine synthase PUS7 recognizes RNA with an extended multi-domain binding surface."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nucleic Acids Res (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/nar/gkab934"}], "href": "https://doi.org/10.1093/nar/gkab934"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34718722"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34718722"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Ranad Shaheen, Monika Tasak, Sateesh Maddirevula, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-019-01980-3"}], "href": "https://doi.org/10.1007/s00439-019-01980-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30778726"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30778726"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Dan Song, Ming Guo, Shuai Xu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "HSP90-dependent PUS7 overexpression facilitates the metastasis of colorectal cancer cells by regulating LASP1 abundance."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Exp Clin Cancer Res (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s13046-021-01951-5"}], "href": "https://doi.org/10.1186/s13046-021-01951-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33990203"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33990203"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Jiming Du, Aimin Gong, Xuefeng Zhao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Pseudouridylate Synthase 7 Promotes Cell Proliferation and Invasion in Colon Cancer Through Activating PI3K/AKT/mTOR Signaling Pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dig Dis Sci (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10620-021-06936-0"}], "href": "https://doi.org/10.1007/s10620-021-06936-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33811565"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33811565"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Qi Zhang, Sujuan Fei, Yanchao Zhao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PUS7 promotes the proliferation of colorectal cancer cells by directly stabilizing SIRT1 to activate the Wnt/β-catenin pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Carcinog (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mc.23473"}], "href": "https://doi.org/10.1002/mc.23473"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36222184"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36222184"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Yongxia Chang, Hao Jin, Yun Cui, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PUS7-dependent pseudouridylation of ALKBH3 mRNA inhibits gastric cancer progression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Transl Med (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ctm2.1811"}], "href": "https://doi.org/10.1002/ctm2.1811"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "39175405"}], "href": "https://pubmed.ncbi.nlm.nih.gov/39175405"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Sangwoo T Han, Andrew C Kim, Karolyn Garcia, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Metab (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ymgme.2022.01.103"}], "href": "https://doi.org/10.1016/j.ymgme.2022.01.103"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35144859"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35144859"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Sayli Dalal, Prashant Deshmukh, Sruthi Unni, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Biochemical insight into pseudouridine synthase 7 (PUS7) as a novel interactor of sirtuin, SIRT1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2019.08.097"}], "href": "https://doi.org/10.1016/j.bbrc.2019.08.097"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31451225"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31451225"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Baokang Dong, Binqi Wang, Meng Fan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Comprehensive analysis to identify PUS7 as a prognostic biomarker from pan-cancer analysis to osteosarcoma validation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Aging (Albany NY) (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.18632/aging.205863"}], "href": "https://doi.org/10.18632/aging.205863"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38819212"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38819212"}]}]}]}
Proteins	PUS7_HUMAN
NCBI Gene ID	54517
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

PUS7 has 7,989 functional associations with biological entities spanning 9 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, sequence feature) extracted from 113 datasets.

Click the + buttons to view associations for PUS7 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

PUS7 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PUS7 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 PUS7 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 PUS7 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 PUS7 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 PUS7 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 PUS7 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 PUS7 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 PUS7 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 PUS7 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 PUS7 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of PUS7 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 PUS7 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with PUS7 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with PUS7 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 PUS7 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of PUS7 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 PUS7 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with PUS7 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of PUS7 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of PUS7 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing PUS7 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with PUS7 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 PUS7 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of PUS7 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with PUS7 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with PUS7 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with PUS7 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with PUS7 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by PUS7 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with PUS7 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 PUS7 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with PUS7 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 PUS7 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 PUS7 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of PUS7 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 PUS7 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with PUS7 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of PUS7 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing PUS7 from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of PUS7 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.