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POC1A POC1 centriolar protein A [ Homo sapiens (human) ]

Gene ID: 25886, updated on 13-Sep-2021

Summary

Official Symbol
POC1Aprovided by HGNC
Official Full Name
POC1 centriolar protein Aprovided by HGNC
Primary source
HGNC:HGNC:24488
See related
Ensembl:ENSG00000164087 MIM:614783
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
PIX2; SOFT; WDR51A
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. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012]
Expression
Broad expression in testis (RPKM 5.0), bone marrow (RPKM 2.2) and 21 other tissues See more
Orthologs
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Genomic context

See POC1A in Genome Data Viewer
Location:
3p21.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (52075226..52154423, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52109242..52188439, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene dual specificity phosphatase 7 Neighboring gene long intergenic non-protein coding RNA 696 Neighboring gene Sharpr-MPRA regulatory region 13023 Neighboring gene ALDOA pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC131902, DKFZp434C245

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell projection organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in centriole IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in spindle pole IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
POC1 centriolar protein homolog A
Names
WD repeat domain 51A
WD repeat-containing protein 51A
proteome of centriole protein 1A

NCBI Reference Sequences (RefSeq)

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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_032947.1 RefSeqGene

    Range
    5268..84465
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001161580.2NP_001155052.1  POC1 centriolar protein homolog A isoform 2

    See identical proteins and their annotated locations for NP_001155052.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
    Source sequence(s)
    AC115284, BC110877, CA944751
    Consensus CDS
    CCDS54592.1
    UniProtKB/Swiss-Prot
    Q8NBT0
    Related
    ENSP00000378421.2, ENST00000394970.6
    Conserved Domains (2) summary
    cd00200
    Location:11299
    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:2359
    7WD40; WD40 repeat [structural motif]
  2. NM_001161581.2NP_001155053.1  POC1 centriolar protein homolog A isoform 3

    See identical proteins and their annotated locations for NP_001155053.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding region compared to variant 1 and initiates translation at an in-frame downstream AUG. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC115284, BC110877, BC119693, CA944751
    Consensus CDS
    CCDS54591.1
    UniProtKB/Swiss-Prot
    Q8NBT0
    Related
    ENSP00000418968.1, ENST00000474012.1
    Conserved Domains (2) summary
    cd00200
    Location:19260
    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:2663
    7WD40; WD40 repeat [structural motif]
  3. NM_015426.5NP_056241.3  POC1 centriolar protein homolog A isoform 1

    See identical proteins and their annotated locations for NP_056241.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC115284, BC110877, BC119692, CA944751
    Consensus CDS
    CCDS2846.1
    UniProtKB/Swiss-Prot
    Q8NBT0
    Related
    ENSP00000296484.2, ENST00000296484.7
    Conserved Domains (2) summary
    cd00200
    Location:11299
    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:2359
    7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    52075226..52154423 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533564.3XP_011531866.1  POC1 centriolar protein homolog A isoform X5

    See identical proteins and their annotated locations for XP_011531866.1

    Conserved Domains (2) summary
    cd00200
    Location:7226
    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:2359
    7WD40; WD40 repeat [structural motif]
  2. XM_011533561.1XP_011531863.1  POC1 centriolar protein homolog A isoform X2

    See identical proteins and their annotated locations for XP_011531863.1

    Conserved Domains (3) summary
    COG2319
    Location:15298
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:11292
    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:2359
    7WD40; WD40 repeat [structural motif]
  3. XM_011533560.1XP_011531862.1  POC1 centriolar protein homolog A isoform X1

    Conserved Domains (3) summary
    COG2319
    Location:13293
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:11292
    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:2359
    7WD40; WD40 repeat [structural motif]
  4. XM_017006104.1XP_016861593.1  POC1 centriolar protein homolog A isoform X3

    Conserved Domains (3) summary
    COG2319
    Location:2263
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:19260
    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:2663
    7WD40; WD40 repeat [structural motif]
  5. XM_011533563.1XP_011531865.1  POC1 centriolar protein homolog A isoform X5

    See identical proteins and their annotated locations for XP_011531865.1

    Conserved Domains (2) summary
    cd00200
    Location:7226
    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:2359
    7WD40; WD40 repeat [structural motif]
  6. XM_011533565.2XP_011531867.1  POC1 centriolar protein homolog A isoform X5

    See identical proteins and their annotated locations for XP_011531867.1

    Conserved Domains (2) summary
    cd00200
    Location:7226
    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:2359
    7WD40; WD40 repeat [structural motif]
  7. XM_011533562.2XP_011531864.1  POC1 centriolar protein homolog A isoform X4

    Conserved Domains (3) summary
    COG2319
    Location:13295
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:11295
    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:2359
    7WD40; WD40 repeat [structural motif]

RNA

  1. XR_940403.1 RNA Sequence

  2. XR_940402.1 RNA Sequence

  3. XR_001740088.1 RNA Sequence

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