POC1B Gene

HGNC Family	WD repeat domain containing (WDR)
Name	POC1 centriolar protein B
Description	POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPOC1B is a conserved centriolar protein that plays a central role in the assembly, stability, and proper function of centrioles and cilia. Studies in unicellular eukaryotes and human cells have shown that POC1B is incorporated into the centriole with both stable and dynamic populations, where it contributes to the formation of the nine‐fold symmetric cartwheel and the microtubule‐based scaffold that confers durability during centrosome and cilium function. In human cells, loss of POC1B—either alone or together with its paralog POC1A—leads to defects in centriole duplication, spindle organization, and primary ciliogenesis, and disruption of distal centriole assembly by inhibition of POC1B recruitment has been linked to loss of post‐translational modifications on centriolar microtubules."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its fundamental role in centriole and cilium biogenesis, POC1B is critically important for retinal integrity. In retinal pigment epithelium and photoreceptors, POC1B normally localizes to the basal body and adjacent centriole, where it supports the structural maintenance of the sensory cilium. Mutations in POC1B disrupt this precise localization—ablating interactions with key partners such as FAM161A—and lead to a spectrum of retinal dystrophies, including cone dystrophy, cone–rod dystrophy, and peripheral cone dystrophy. Affected individuals generally display subtle fundus changes yet have progressive defects in outer retinal architecture and function. These findings have been confirmed in both patient-derived data and animal models, underscoring the pathogenic impact of POC1B variants on ciliary function in the retina."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "12"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nEmerging evidence further implicates POC1B in a broader spectrum of cilia‐related diseases. Recent work has expanded the clinical phenotype associated with POC1B mutations to include defects beyond the retina. For instance, biallelic mutations in POC1B have been shown to adversely affect sperm formation—resulting in abnormalities of the acrosome and flagella—and to predispose to syndromic features such as polycystic kidney disease and subtle neurological manifestations. In addition, genetic studies have identified novel pathogenic variants and noncanonical splice site alterations in POC1B, as well as an associated locus in genome‐wide analyses of cardiovascular biomarkers, thereby extending the potential clinical and molecular impact of this gene."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "13", "end_ref": "17"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Chad G Pearson, Daniel P S Osborn, Thomas H Giddings, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Basal body stability and ciliogenesis requires the conserved component Poc1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.200908019"}], "href": "https://doi.org/10.1083/jcb.200908019"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20008567"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20008567"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Magali Venoux, Xavier Tait, Rebecca S Hames, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Poc1A and Poc1B act together in human cells to ensure centriole integrity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.111203"}], "href": "https://doi.org/10.1242/jcs.111203"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23015594"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23015594"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Ching-Wen Chang, Wen-Bin Hsu, Jhih-Jie Tsai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CEP295 interacts with microtubules and is required for centriole elongation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.186338"}], "href": "https://doi.org/10.1242/jcs.186338"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27185865"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27185865"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Susanne Roosing, Ideke J C Lamers, Erik de Vrieze, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2014.06.012"}], "href": "https://doi.org/10.1016/j.ajhg.2014.06.012"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25018096"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25018096"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Bodo B Beck, Jennifer B Phillips, Malte P Bartram, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutation of POC1B in a severe syndromic retinal ciliopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.22618"}], "href": "https://doi.org/10.1002/humu.22618"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25044745"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25044745"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Yusuf K Durlu, Çiğdem Köroğlu, Aslihan Tolun "}, {"type": "b", "children": [{"type": "t", "text": "Novel recessive cone-rod dystrophy caused by POC1B mutation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "JAMA Ophthalmol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1001/jamaophthalmol.2014.1658"}], "href": "https://doi.org/10.1001/jamaophthalmol.2014.1658"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24945461"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24945461"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Shuhei Kameya, Kaoru Fujinami, Shinji Ueno, et al. 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Synonyms	PIX1, WDR51B, CORD20, TUWD12
Proteins	POC1B_HUMAN
NCBI Gene ID	282809
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

POC1B has 5,290 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 110 datasets.

Click the + buttons to view associations for POC1B from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

POC1B 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 POC1B 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 POC1B 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 POC1B 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 POC1B 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 POC1B 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 POC1B gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of POC1B 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 POC1B 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 POC1B 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 POC1B gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with POC1B protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of POC1B gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of POC1B 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 POC1B 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 POC1B gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with POC1B gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing POC1B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing POC1B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with POC1B 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 POC1B 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 POC1B gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with POC1B gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with POC1B gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with POC1B gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of POC1B 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 POC1B gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving POC1B gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with POC1B 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 POC1B 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 POC1B 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 POC1B 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 POC1B gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with POC1B 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 POC1B 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 POC1B gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of POC1B 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 POC1B from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with POC1B gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with POC1B 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 POC1B from the GeneSigDB Published Gene Signatures dataset.