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POC1B POC1 centriolar protein B [ Homo sapiens (human) ]

Gene ID: 282809, updated on 5-Feb-2017
Official Symbol
POC1Bprovided by HGNC
Official Full Name
POC1 centriolar protein Bprovided by HGNC
Primary source
HGNC:HGNC:30836
See related
Ensembl:ENSG00000139323 MIM:614784; Vega:OTTHUMG00000169944
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PIX1; CORD20; TUWD12; WDR51B
Summary
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]
Orthologs
Location:
12q21.33
Exon count:
13
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (89419718..89526262, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (89813495..89920039, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein S6 pseudogene 4 Neighboring gene dual specificity phosphatase 6 Neighboring gene POC1B-GALNT4 readthrough Neighboring gene centromere protein C pseudogene 1 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 4 Neighboring gene ATPase plasma membrane Ca2+ transporting 1 Neighboring gene uncharacterized LOC107984543 Neighboring gene ATP2B1 antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 365

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Cone-rod dystrophy 20
MedGen: CN219005 OMIM: 615973 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Readthrough POC1B-GALNT4

Readthrough gene: POC1B-GALNT4, Included gene: GALNT4

Homology

Clone Names

  • FLJ14923, FLJ41111

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
retina homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
centriole IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
spindle pole IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
POC1 centriolar protein homolog B
Names
WD repeat-containing protein 51B
proteome of centriole protein 1B

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_041783.1 RefSeqGene

    Range
    5001..111545
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199777.1NP_001186706.1  POC1 centriolar protein homolog B isoform b

    See identical proteins and their annotated locations for NP_001186706.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AK027829, AK123106, AW149266, BU521431, DA851891
    Consensus CDS
    CCDS55859.1
    UniProtKB/Swiss-Prot
    Q8TC44
    Related
    ENSP00000447916, OTTHUMP00000242505, ENST00000549035, OTTHUMT00000406639
    Conserved Domains (3) summary
    COG2319
    Location:13258
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:2256
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:2158
    7WD40; WD40 repeat [structural motif]
  2. NM_172240.2NP_758440.1  POC1 centriolar protein homolog B isoform a

    See identical proteins and their annotated locations for NP_758440.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AK027829, AW149266, BC026080, DC354425
    Consensus CDS
    CCDS31869.1
    UniProtKB/Swiss-Prot
    Q8TC44
    UniProtKB/TrEMBL
    A0MNP0
    Related
    ENSP00000323302, OTTHUMP00000242504, ENST00000313546, OTTHUMT00000406637
    Conserved Domains (3) summary
    COG2319
    Location:14300
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:10298
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:63100
    7WD40; WD40 repeat [structural motif]

RNA

  1. NR_037659.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an internal exon in the 5' region, but includes an additional exon in the central region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK027829, AK295596, AW149266, BU521431, DC354425
  2. NR_037660.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses alternate exon structure in the 5' region, compared to variant 1. This variant is represented as non-coding due to the presence of multiple upstream ORFs that are expected to inhibit translation of the longest ORF; translation of an upstream ORF would render the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB053266, AK027829, AW149266, BU521431, DA851891
    Related
    ENST00000393179, OTTHUMT00000406636

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

    Range
    89419718..89526262 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    89778437..89885064 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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