Name | pericentriolar material 1 |
Description | The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the correct localization of several centrosomal proteins, and for anchoring microtubules to the centrosome. Chromosomal aberrations involving this gene are associated with papillary thyroid carcinomas and a variety of hematological malignancies, including atypical chronic myeloid leukemia and T-cell lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] |
Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPericentriolar material 1 (PCM1) is a core scaffolding protein of centriolar satellites that orchestrates centrosomal organization and microtubule dynamics critical for cell cycle progression. For example, PCM1 localizes to dynamic cytoplasmic granules and facilitates the recruitment of regulators such as Nek2, thereby promoting proper centrosomal function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In neural progenitors, PCM1 interacts with Hook3 to coordinate interkinetic nuclear migration"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ", and its association with CEP90 is essential for the accumulation of centriolar satellite proteins at the centrosome."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Furthermore, defects in centrosome duplication linked to NEK7-dependent processes underscore PCM1’s role in centrosome integrity"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ", while broader centrosomal dysfunction involving PCM1 has been implicated in the pathogenesis of major mental illnesses."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nPCM1 is also pivotal for ciliogenesis. Its interaction with CEP290 helps promote the assembly of primary cilia"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ", and cooperation with wild-type Huntingtin further regulates ciliary vesicle trafficking to ensure proper cilium formation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " In addition, PCM1 facilitates ciliary disassembly by recruiting Polo-like kinase 1 (Plk1) to the pericentriolar matrix, enabling timely ciliary resorption before mitosis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": " By tethering the E3 ligase Mib1, PCM1 prevents premature degradation of key ciliary components, and its interaction with Hook2 further supports Rab8-dependent targeting during ciliogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nThe homeostasis of PCM1 is tightly regulated post‐translationally. The deubiquitylase USP9X directly associates with PCM1 to stabilize its levels"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": ", and its ability to antagonize PCM1 ubiquitylation is critical for preventing proteasomal degradation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": " Moreover, sorting nexin 17 (SNX17) recruits USP9X to centriolar satellites, a mechanism that is essential for maintaining PCM1 protein homeostasis under stress conditions."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "13"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAlterations in PCM1 contribute to a spectrum of human diseases. Chromosomal rearrangements that generate PCM1‐JAK2 fusion proteins have been identified in various hematological malignancies—including atypical chronic myeloid leukemia"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "14"}]}, {"type": "t", "text": ", acute leukemias with immunophenotypic evolution"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "15"}]}, {"type": "t", "text": ", and T‐cell lymphomas."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "16"}]}, {"type": "t", "text": " In parallel, genetic variations in PCM1 have been linked to neuropsychiatric disorders such as schizophrenia; several studies report associations of PCM1 variants"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "18"}]}, {"type": "t", "text": ", DISC1‐mediated modulation of PCM1 localization"}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "19", "end_ref": "21"}]}, {"type": "t", "text": ", and neurodevelopmental defects upon PCM1 ablation"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "22"}]}, {"type": "t", "text": ", although some populations show no clear association."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "23"}]}, {"type": "t", "text": " Beyond neuropsychiatric conditions, a PCM1 3′ untranslated region variant has been associated with increased ovarian cancer risk"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "24"}]}, {"type": "t", "text": ", and recent work implicates long noncoding RNA interactions with PCM1 in modulating interferon‐γ responses in neurosyphilis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "25"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Rebecca S Hames, Renarta E Crookes, Kees R Straatman, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Hook2 is involved in the morphogenesis of the primary cilium."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.E11-05-0405"}], "href": "https://doi.org/10.1091/mbc.E11-05-0405"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21998199"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21998199"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Qian Wang, Yiman Tang, Yue Xu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The X-linked deubiquitinase USP9X is an integral component of centrosome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M116.769943"}], "href": "https://doi.org/10.1074/jbc.M116.769943"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28620049"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28620049"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Ke-Jun Han, Zhiping Wu, Chad G Pearson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Deubiquitylase USP9X maintains centriolar satellite integrity by stabilizing pericentriolar material 1 protein."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.221663"}], "href": "https://doi.org/10.1242/jcs.221663"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30584065"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30584065"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Pengtao Wang, Jianhong Xia, Leilei Zhang, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "The t(8;9)(p22;p24) translocation in atypical chronic myeloid leukaemia yields a new PCM1-JAK2 fusion gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncogene (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.onc.1208850"}], "href": "https://doi.org/10.1038/sj.onc.1208850"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16091753"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16091753"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Kuan-Po Huang, Andrew J Chase, Nicholas C P Cross, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Evolutional change of karyotype with t(8;9)(p22;p24) and HLA-DR immunophenotype in relapsed acute myeloid leukemia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Hematol (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s12185-008-0113-4"}], "href": "https://doi.org/10.1007/s12185-008-0113-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18594780"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18594780"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Stefan Ehrentraut, Stefan Nagel, Michaela E Scherr, et al. "}, {"type": "b", "children": [{"type": "t", "text": "t(8;9)(p22;p24)/PCM1-JAK2 activates SOCS2 and SOCS3 via STAT5."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0053767"}], "href": "https://doi.org/10.1371/journal.pone.0053767"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23372669"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23372669"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Barbara J Bain, Shahzaib Ahmad "}, {"type": "b", "children": [{"type": "t", "text": "Should myeloid and lymphoid neoplasms with PCM1-JAK2 and other rearrangements of JAK2 be recognized as specific entities?"}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Br J Haematol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/bjh.12963"}], "href": "https://doi.org/10.1111/bjh.12963"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24913195"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24913195"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Hugh M D Gurling, Hugo Critchley, Susmita R Datta, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic association and brain morphology studies and the chromosome 8p22 pericentriolar material 1 (PCM1) gene in susceptibility to schizophrenia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Arch Gen Psychiatry (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1001/archpsyc.63.8.844"}], "href": "https://doi.org/10.1001/archpsyc.63.8.844"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16894060"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16894060"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "S R Datta, A McQuillin, M Rizig, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A threonine to isoleucine missense mutation in the pericentriolar material 1 gene is strongly associated with schizophrenia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Psychiatry (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/mp.2008.128"}], "href": "https://doi.org/10.1038/mp.2008.128"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19048012"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19048012"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Sharon L Eastwood, Mary Walker, Thomas M Hyde, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The DISC1 Ser704Cys substitution affects centrosomal localization of its binding partner PCM1 in glia in human brain."}]}, {"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/ddq130"}], "href": "https://doi.org/10.1093/hmg/ddq130"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20360304"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20360304"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Ryota Hashimoto, Kazutaka Ohi, Yuka Yasuda, et al. "}, {"type": "b", "children": [{"type": "t", "text": "No association between the PCM1 gene and schizophrenia: a multi-center case-control study and a meta-analysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Schizophr Res (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.schres.2011.03.024"}], "href": "https://doi.org/10.1016/j.schres.2011.03.024"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21481569"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21481569"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Tanner O Monroe, Melanie E Garrett, Maria Kousi, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Targeted resequencing of the microRNAome and 3'UTRome reveals functional germline DNA variants with altered prevalence in epithelial ovarian cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncogene (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/onc.2014.117"}], "href": "https://doi.org/10.1038/onc.2014.117"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24909162"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24909162"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Wen-Na Liu, Kai-Xuan Wu, Xiao-Tong Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "LncRNA-"}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "ENST00000421645"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " promotes T cells to secrete IFN-γ by sponging PCM1 in neurosyphilis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Epigenomics (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2217/epi-2021-0163"}], "href": "https://doi.org/10.2217/epi-2021-0163"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34382410"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34382410"}]}]}]}
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Synonyms | PTC4, RET/PCM-1 |
Proteins | PCM1_HUMAN |
NCBI Gene ID | 5108 |
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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PCM1 has 7,479 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 112 datasets.
Click the + buttons to view associations for PCM1 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 PCM1 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 PCM1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray | tissue samples with high or low expression of PCM1 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 PCM1 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 PCM1 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 PCM1 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 PCM1 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 PCM1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. | |
CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of PCM1 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 PCM1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
CCLE Cell Line Gene Mutation Profiles | cell lines with PCM1 gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset. | |
ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of PCM1 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
ChEA Transcription Factor Targets | transcription factors binding the promoter of PCM1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of PCM1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing PCM1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing PCM1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
COMPARTMENTS Experimental Protein Localization Evidence Scores | cellular components containing PCM1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 | cellular components containing PCM1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with PCM1 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 PCM1 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 PCM1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
COSMIC Cell Line Gene Mutation Profiles | cell lines with PCM1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
CTD Gene-Chemical Interactions | chemicals interacting with PCM1 gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
CTD Gene-Disease Associations | diseases associated with PCM1 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
DepMap CRISPR Gene Dependency | cell lines with fitness changed by PCM1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
DISEASES Curated Gene-Disease Association Evidence Scores | diseases involving PCM1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving PCM1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
DISEASES Experimental Gene-Disease Association Evidence Scores | diseases associated with PCM1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with PCM1 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 PCM1 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 PCM1 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 PCM1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
DisGeNET Gene-Phenotype Associations | phenotypes associated with PCM1 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 PCM1 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 PCM1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
ENCODE Transcription Factor Targets | transcription factors binding the promoter of PCM1 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 PCM1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
GAD Gene-Disease Associations | diseases associated with PCM1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. | |
GAD High Level Gene-Disease Associations | diseases associated with PCM1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset. | |
GDSC Cell Line Gene Expression Profiles | cell lines with high or low expression of PCM1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset. | |
GeneRIF Biological Term Annotations | biological terms co-occuring with PCM1 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 PCM1 from the GeneSigDB Published Gene Signatures dataset. | |
GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of PCM1 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of PCM1 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of PCM1 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 PCM1 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 PCM1 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 PCM1 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
GO Biological Process Annotations 2015 | biological processes involving PCM1 gene from the curated GO Biological Process Annotations 2015 dataset. | |
GO Biological Process Annotations 2025 | biological processes involving PCM1 gene from the curated GO Biological Process Annotations2025 dataset. | |
GO Cellular Component Annotations 2015 | cellular components containing PCM1 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
GO Cellular Component Annotations 2025 | cellular components containing PCM1 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
GO Molecular Function Annotations 2015 | molecular functions performed by PCM1 gene from the curated GO Molecular Function Annotations 2015 dataset. | |
GTEx eQTL 2025 | SNPs regulating expression of PCM1 gene from the GTEx eQTL 2025 dataset. | |
GTEx Tissue Gene Expression Profiles | tissues with high or low expression of PCM1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of PCM1 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
GWAS Catalog SNP-Phenotype Associations | phenotypes associated with PCM1 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. | |
GWASdb SNP-Disease Associations | diseases associated with PCM1 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
GWASdb SNP-Phenotype Associations | phenotypes associated with PCM1 gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. | |
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of PCM1 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of PCM1 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 PCM1 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 PCM1 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 PCM1 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
HPM Cell Type and Tissue Protein Expression Profiles | cell types and tissues with high or low expression of PCM1 protein relative to other cell types and tissues from the HPM Cell Type and Tissue Protein Expression Profiles dataset. | |
HPO Gene-Disease Associations | phenotypes associated with PCM1 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 PCM1 from the curated Hub Proteins Protein-Protein Interactions dataset. | |
HuGE Navigator Gene-Phenotype Associations | phenotypes associated with PCM1 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
InterPro Predicted Protein Domain Annotations | protein domains predicted for PCM1 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of PCM1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
KEA Substrates of Kinases | kinases that phosphorylate PCM1 protein from the curated KEA Substrates of Kinases dataset. | |
Kinase Library Serine Threonine Kinome Atlas | kinases that phosphorylate PCM1 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 PCM1 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 PCM1 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 PCM1 gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. | |
KnockTF Gene Expression Profiles with Transcription Factor Perturbations | transcription factor perturbations changing expression of PCM1 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of PCM1 gene from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
LOCATE Curated Protein Localization Annotations | cellular components containing PCM1 protein in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset. | |
LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain PCM1 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by PCM1 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
MiRTarBase microRNA Targets | microRNAs targeting PCM1 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 PCM1 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
MSigDB Cancer Gene Co-expression Modules | co-expressed genes for PCM1 from the MSigDB Cancer Gene Co-expression Modules dataset. | |
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of PCM1 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
NURSA Protein Complexes | protein complexs containing PCM1 protein recovered by IP-MS from the NURSA Protein Complexes dataset. | |
OMIM Gene-Disease Associations | phenotypes associated with PCM1 gene from the curated OMIM Gene-Disease Associations dataset. | |
Pathway Commons Protein-Protein Interactions | interacting proteins for PCM1 from the Pathway Commons Protein-Protein Interactions dataset. | |
PFOCR Pathway Figure Associations 2023 | pathways involving PCM1 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
PFOCR Pathway Figure Associations 2024 | pathways involving PCM1 protein from the Wikipathways PFOCR 2024 dataset. | |
ProteomicsDB Cell Type and Tissue Protein Expression Profiles | cell types and tissues with high or low expression of PCM1 protein relative to other cell types and tissues from the ProteomicsDB Cell Type and Tissue Protein Expression Profiles dataset. | |
Reactome Pathways 2014 | pathways involving PCM1 protein from the Reactome Pathways dataset. | |
Reactome Pathways 2024 | pathways involving PCM1 protein from the Reactome Pathways 2024 dataset. | |
Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of PCM1 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 PCM1 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 PCM1 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 PCM1 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 PCM1 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of PCM1 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of PCM1 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
Sanger Dependency Map Cancer Cell Line Proteomics | cell lines associated with PCM1 protein from the Sanger Dependency Map Cancer Cell Line Proteomics dataset. | |
SILAC Phosphoproteomics Signatures of Differentially Phosphorylated Proteins for Drugs | drug perturbations changing phosphorylation of PCM1 protein from the SILAC Phosphoproteomics Signatures of Differentially Phosphorylated Proteins for Drugs dataset. | |
SILAC Phosphoproteomics Signatures of Differentially Phosphorylated Proteins for Protein Ligands | ligand (protein) perturbations changing phosphorylation of PCM1 protein from the SILAC Phosphoproteomics Signatures of Differentially Phosphorylated Proteins for Protein Ligands dataset. | |
TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of PCM1 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of PCM1 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 PCM1 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 PCM1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of PCM1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
TISSUES Experimental Tissue Protein Expression Evidence Scores | tissues with high expression of PCM1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of PCM1 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 PCM1 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 PCM1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
WikiPathways Pathways 2024 | pathways involving PCM1 protein from the WikiPathways Pathways 2024 dataset. | |