POC1B Gene (Protein Coding)

POC1 Centriolar Protein B

GC12M089419
GIFtS:
38
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. [provi... See more...

Aliases for POC1B Gene

Aliases for POC1B Gene

  • POC1 Centriolar Protein B 2 3 5
  • POC1 Centriolar Protein Homolog B 3 4
  • WD Repeat-Containing Protein 51B 3 4
  • Proteome Of Centriole Protein 1B 3 4
  • TUWD12 2 3
  • WDR51B 3 4
  • POC1 Centriolar Protein Homolog B (Chlamydomonas) 2
  • WD Repeat Domain 51B 2
  • FLJ14923 2
  • CORD20 3
  • POC1B 5
  • PIX1 3
  • Pix1 4

External Ids for POC1B Gene

Previous HGNC Symbols for POC1B Gene

  • WDR51B

Previous GeneCards Identifiers for POC1B Gene

  • GC12M089814
  • GC12M086879

Summaries for POC1B Gene

Entrez Gene Summary for POC1B Gene

  • 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]

GeneCards Summary for POC1B Gene

POC1B (POC1 Centriolar Protein B) is a Protein Coding gene. Diseases associated with POC1B include Cone-Rod Dystrophy 20 and Cone-Rod Dystrophy 2. An important paralog of this gene is POC1A.

UniProtKB/Swiss-Prot Summary for POC1B Gene

  • Plays an important role in centriole assembly and/or stability and ciliogenesis (PubMed:20008567, PubMed:32060285). Involved in early steps of centriole duplication, as well as in the later steps of centriole length control (PubMed:19109428). Acts in concert with POC1A to ensure centriole integrity and proper mitotic spindle formation (PubMed:32060285). Required for primary cilia formation, ciliary length and also cell proliferation (PubMed:23015594). Required for retinal integrity (PubMed:25044745).

Additional gene information for POC1B Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POC1B Gene

Genomics for POC1B Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for POC1B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POC1B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POC1B

Genomic Locations for POC1B Gene

Latest Assembly
chr12:89,419,718-89,526,047
(GRCh38/hg38)
Size:
106,330 bases
Orientation:
Minus strand

Previous Assembly
chr12:89,813,495-89,919,824
(GRCh37/hg19 by Entrez Gene)
Size:
106,330 bases
Orientation:
Minus strand

chr12:89,813,495-89,919,801
(GRCh37/hg19 by Ensembl)
Size:
106,307 bases
Orientation:
Minus strand

Genomic View for POC1B Gene

Genes around POC1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POC1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POC1B Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for POC1B Gene

Proteins for POC1B Gene

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  • Protein details for POC1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TC44-POC1B_HUMAN
    Recommended name:
    POC1 centriolar protein homolog B
    Protein Accession:
    Q8TC44
    Secondary Accessions:
    • G3V1X0

    Protein attributes for POC1B Gene

    Size:
    478 amino acids
    Molecular mass:
    53668 Da
    Quaternary structure:
    • Interacts with POC1A (PubMed:23015594). Interacts with FAM161A (PubMed:25018096). Interacts with CEP44; the interaction is direct and recruits POC1B to centriolar microtubules (PubMed:32060285).

    Alternative splice isoforms for POC1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POC1B Gene

Protein Expression for POC1B Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for POC1B Gene

  • Phosphorylated in mitotic cells that may be mediated by CDK1.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POC1B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for POC1B Gene

Domains & Families for POC1B Gene

Gene Families for POC1B Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for POC1B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for POC1B Gene

GenScript: Design optimal peptide antigens:
  • WD repeat domain 51B, isoform CRA_b (A0MNP0_HUMAN)
  • cDNA FLJ58572, highly similar to WD repeat protein 51B (B4DIH4_HUMAN)
  • cDNA FLJ58458, highly similar to Polypeptide N-acetylgalactosaminyltransferase 4 (EC 2.4.1.41) (B4DMX6_HUMAN)
  • WD repeat-containing protein 51B (POC1B_HUMAN)
  • cDNA FLJ41631 fis, clone DFNES2011499 (Q6ZW40_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TC44

UniProtKB/Swiss-Prot:

POC1B_HUMAN :
  • Belongs to the WD repeat POC1 family.
Family:
  • Belongs to the WD repeat POC1 family.
genes like me logo Genes that share domains with POC1B: view

Function for POC1B Gene

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Molecular function for POC1B Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in centriole assembly and/or stability and ciliogenesis (PubMed:20008567, PubMed:32060285). Involved in early steps of centriole duplication, as well as in the later steps of centriole length control (PubMed:19109428). Acts in concert with POC1A to ensure centriole integrity and proper mitotic spindle formation (PubMed:32060285). Required for primary cilia formation, ciliary length and also cell proliferation (PubMed:23015594). Required for retinal integrity (PubMed:25044745).

Phenotypes From GWAS Catalog for POC1B Gene

Gene Ontology (GO) - Molecular Function for POC1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23015594
genes like me logo Genes that share ontologies with POC1B: view
genes like me logo Genes that share phenotypes with POC1B: view

Human Phenotype Ontology for POC1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for POC1B Gene

MGI Knock Outs for POC1B:
  • Poc1b Poc1b<tm1b(KOMP)Wtsi>

Animal Models for research

miRNA for POC1B Gene

miRTarBase miRNAs that target POC1B

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POC1B

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for POC1B Gene

Localization for POC1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for POC1B Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, spindle pole. Note=Component of both mother and daughter centrioles (PubMed:32060285). Localizes to the basal body and centriole adjacent to the connecting cilium of photoreceptors and in synapses of the outer plexiform layer. {ECO:0000250 UniProtKB:Q8BHD1, ECO:0000269 PubMed:32060285}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POC1B gene
Compartment Confidence
cytoskeleton 5
nucleus 2
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for POC1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA,IDA 23015594
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
GO:0005814 centriole IEA,IDA 20008567
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with POC1B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for POC1B Gene

Pathways & Interactions for POC1B Gene

PathCards logo

SuperPathways for POC1B Gene

No Data Available

Gene Ontology (GO) - Biological Process for POC1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001895 retina homeostasis IMP 25044745
GO:0007099 centriole replication IDA 32060285
GO:0008283 cell proliferation IMP 23015594
GO:0030030 cell projection organization IEA --
GO:0060271 cilium assembly IMP 20008567
genes like me logo Genes that share ontologies with POC1B: view

No data available for Pathways by source and SIGNOR curated interactions for POC1B Gene

Drugs & Compounds for POC1B Gene

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No Compound Related Data Available

Transcripts for POC1B Gene

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mRNA/cDNA for POC1B Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POC1B

Alternative Splicing Database (ASD) splice patterns (SP) for POC1B Gene

No ASD Table

Relevant External Links for POC1B Gene

GeneLoc Exon Structure for
POC1B

Expression for POC1B Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POC1B Gene

mRNA expression in normal human tissues for POC1B Gene
mRNA expression by GTEx for POC1B GenemRNA expression by BioGPS for POC1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for POC1B Gene

This gene is overexpressed in Amniocyte (57.6) and Platelet (11.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POC1B Gene



Protein tissue co-expression partners for POC1B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POC1B

SOURCE GeneReport for Unigene cluster for POC1B Gene:

Hs.25130

mRNA Expression by UniProt/SwissProt for POC1B Gene:

Q8TC44-POC1B_HUMAN
Tissue specificity: Expressed in the retina.

Evidence on tissue expression from TISSUES for POC1B Gene

  • Blood(4.2)
  • Nervous system(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POC1B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • lacrimal apparatus
  • pituitary gland
Thorax:
  • breast
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with POC1B: view

Primer products for research

No data available for mRNA differential expression in normal tissues for POC1B Gene

Orthologs for POC1B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for POC1B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia POC1B 30 31
  • 99.86 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia POC1B 30 31
  • 90.09 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia WDR51B 31
  • 90 (a)
 OneToOne
POC1B 30
  • 89.24 (n)
Rat
(Rattus norvegicus)
 Mammalia Poc1b 30
  • 82.95 (n)
Mouse
(Mus musculus)
 Mammalia Poc1b 30 17 31
  • 81.93 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia POC1B 31
  • 70 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia POC1B 31
  • 67 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves WDR51B 30 31
  • 69.25 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia POC1B 31
  • 58 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia poc1b 30
  • 68.22 (n)
Zebrafish
(Danio rerio)
 Actinopterygii poc1b 30 31
  • 60.23 (n)
 OneToOne
-- 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Poc1 31
  • 37 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes RSA4 31
  • 17 (a)
 OneToMany
Species where no ortholog for POC1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for POC1B Gene

ENSEMBL:
Gene Tree for POC1B (if available)
TreeFam:
Gene Tree for POC1B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POC1B: view image

Paralogs for POC1B Gene

Paralogs for POC1B Gene

(64) SIMAP similar genes for POC1B Gene using alignment to 6 proteins:

  • POC1B_HUMAN
  • B4DIH4_HUMAN
  • F8VPF1_HUMAN
  • F8VV91_HUMAN
  • F8VX21_HUMAN
  • Q6ZW40_HUMAN
genes like me logo Genes that share paralogs with POC1B: view

Variants for POC1B Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POC1B Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
813200 Pathogenic: Cone-rod dystrophy; not provided 89,472,166(-) A/C
NM_172240.3(POC1B):c.560+2T>G 		SPLICE_DONOR
833786 Likely Benign: not provided 89,471,617(-) G/C
NM_172240.3(POC1B):c.673C>G (p.Gln225Glu) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
837708 Uncertain Significance: not provided 89,497,316(-) T/C
NM_172240.3(POC1B):c.127A>G (p.Met43Val) 		INITIATIOR_CODON_VARIANT,MISSENSE
839884 Uncertain Significance: not provided 89,471,707(-) T/C
NM_172240.3(POC1B):c.583A>G (p.Asn195Asp) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
845855 Uncertain Significance: not provided 89,470,378(-) T/C
NM_172240.3(POC1B):c.793A>G (p.Thr265Ala) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for POC1B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for POC1B Gene

Variant ID Type Subtype PubMed ID
esv2576321 CNV insertion 19546169
esv3580371 CNV loss 25503493
esv3630318 CNV loss 21293372
esv3630319 CNV loss 21293372
nsv1047444 CNV loss 25217958
nsv478578 CNV novel sequence insertion 20440878
nsv832479 CNV gain 17160897
nsv975519 CNV duplication 23825009

Variation tolerance for POC1B Gene

Residual Variation Intolerance Score: 51.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.85; 34.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POC1B Gene

Human Gene Mutation Database (HGMD)
POC1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POC1B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POC1B Gene

Disorders for POC1B Gene

MalaCards: The human disease database

(20) MalaCards diseases for POC1B Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search POC1B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

POC1B_HUMAN
  • Cone-rod dystrophy 20 (CORD20) [MIM:615973]: A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269 PubMed:24945461, ECO:0000269 PubMed:25018096, ECO:0000269 PubMed:25044745}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for POC1B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with POC1B: view

No data available for Genatlas for POC1B Gene

Publications for POC1B Gene

  1. Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. (PMID: 25018096) Roosing S … Cremers FP (American journal of human genetics 2014) 3 4 74
  2. Novel recessive cone-rod dystrophy caused by POC1B mutation. (PMID: 24945461) Durlu YK … Tolun A (JAMA ophthalmology 2014) 3 4 74
  3. Mutation of POC1B in a severe syndromic retinal ciliopathy. (PMID: 25044745) Beck BB … Bolz HJ (Human mutation 2014) 3 4 74
  4. Molecular architecture of the centriole proteome: the conserved WD40 domain protein POC1 is required for centriole duplication and length control. (PMID: 19109428) Keller LC … Marshall WF (Molecular biology of the cell 2009) 2 3 4
  5. CEP44 ensures the formation of bona fide centriole wall, a requirement for the centriole-to-centrosome conversion. (PMID: 32060285) Atorino ES … Schiebel E (Nature communications 2020) 3 4

ExternalLinks

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