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

    Gene ID: 25886, updated on 10-Dec-2024

    Summary

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    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; AllianceGenome:HGNC:24488
    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
    mouse all
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    Genomic context

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    See POC1A in Genome Data Viewer
    Location:
    3p21.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (52075226..52154423, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (52108129..52187328, complement)
    RS_2024_09 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 uncharacterized LOC124906238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14426 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14427 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14428 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19926 Neighboring gene dual specificity phosphatase 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52101953-52102546 Neighboring gene long intergenic non-protein coding RNA 696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52104737-52105238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52112399-52113318 Neighboring gene Sharpr-MPRA regulatory region 14635 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19927 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:52187832-52188809 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:52188810-52189786 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52218535-52219370 Neighboring gene Sharpr-MPRA regulatory region 13023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19929 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14431 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14432 Neighboring gene ALDOA pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 10522 Neighboring gene 5'-aminolevulinate synthase 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling. Perge K, et al. Eur J Endocrinol, 2024 Feb 1. PMID 38245004
    2. POC1A, prognostic biomarker of immunosuppressive microenvironment in cancer. Zhao Q, et al. Aging (Albany NY), 2022 Jun 23. PMID 35748773, Free PMC Article
    3. Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps. Mericq V, et al. Eur J Endocrinol, 2022 Mar 23. PMID 35234134, Free PMC Article
    4. SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation. Ko JM, et al. J Hum Genet, 2016 Jun. PMID 26791357
    5. Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. Sarig O, et al. Am J Hum Genet, 2012 Aug 10. PMID 22840363, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Upregulation of POC1A in lung adenocarcinoma promotes tumour progression and predicts poor prognosis.
      Title: Upregulation of POC1A in lung adenocarcinoma promotes tumour progression and predicts poor prognosis.
    2. Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.
      Title: Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.
    3. POC1A, prognostic biomarker of immunosuppressive microenvironment in cancer.
      Title: POC1A, prognostic biomarker of immunosuppressive microenvironment in cancer.
    4. Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.
      Title: Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.
    5. we report the first patient with SOFT syndrome harboring compound heterozygous variants of POC1A. understanding POC1A mutations may provide appropriate management and genetic counseling to these patients and their families.
      Title: SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.
    6. Result identified a novel mutation in POC1A of patients with primordial dwarfism and showed that this mutation causes the formation of multiple numbers of centrioles and multipolar spindles with abnormal chromosome arrangement.
      Title: Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.
    7. POC1A may be added to ALMS1 and PCNT as examples of centrosomal or pericentriolar proteins whose dysfunction leads to extreme dyslipidaemic insulin resistance.
      Title: Truncation of POC1A associated with short stature and extreme insulin resistance.
    8. Poc1A and Poc1B play redundant, but essential, roles in generation of stable centrioles, but Poc1B may have additional independent functions during cell cycle progression.
      Title: Poc1A and Poc1B act together in human cells to ensure centriole integrity.
    9. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.
      Title: POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.
    10. Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.
      Title: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
    MedGen: C3542022 OMIM: 614813 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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 cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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

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    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_001161580.2 → NP_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:11 → 299
      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:23 → 59
      7WD40; WD40 repeat [structural motif]

    2. NM_001161581.2 → NP_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/TrEMBL
      B2RDV4
      Related
      ENSP00000418968.1, ENST00000474012.1
      Conserved Domains (2) summary
      cd00200
      Location:19 → 260
      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:26 → 63
      7WD40; WD40 repeat [structural motif]

    3. NM_015426.5 → NP_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
      A4FUW4, E9PFC6, Q0VDF8, Q2TAK6, Q8NBT0, Q96IK6, Q9UFJ8
      Related
      ENSP00000296484.2, ENST00000296484.7
      Conserved Domains (2) summary
      cd00200
      Location:11 → 299
      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:23 → 59
      7WD40; WD40 repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011533561.2 → XP_011531863.1  POC1 centriolar protein homolog A isoform X3

      See identical proteins and their annotated locations for XP_011531863.1

      Conserved Domains (3) summary
      COG2319
      Location:15 → 298
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:11 → 292
      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:23 → 59
      7WD40; WD40 repeat [structural motif]

    2. XM_011533560.2 → XP_011531862.1  POC1 centriolar protein homolog A isoform X1

      Conserved Domains (3) summary
      COG2319
      Location:13 → 293
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:11 → 292
      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:23 → 59
      7WD40; WD40 repeat [structural motif]

    3. XM_047447908.1 → XP_047303864.1  POC1 centriolar protein homolog A isoform X6

    4. XM_047447907.1 → XP_047303863.1  POC1 centriolar protein homolog A isoform X2

      UniProtKB/TrEMBL
      B2RDV4

    5. XM_017006104.2 → XP_016861593.1  POC1 centriolar protein homolog A isoform X4

      UniProtKB/TrEMBL
      B2RDV4
      Conserved Domains (3) summary
      COG2319
      Location:2 → 263
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:19 → 260
      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:26 → 63
      7WD40; WD40 repeat [structural motif]

    6. XM_011533563.2 → XP_011531865.1  POC1 centriolar protein homolog A isoform X7

      See identical proteins and their annotated locations for XP_011531865.1

      Conserved Domains (2) summary
      cd00200
      Location:7 → 226
      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:23 → 59
      7WD40; WD40 repeat [structural motif]

    7. XM_011533562.3 → XP_011531864.1  POC1 centriolar protein homolog A isoform X5

      Conserved Domains (3) summary
      COG2319
      Location:13 → 295
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:11 → 295
      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:23 → 59
      7WD40; WD40 repeat [structural motif]

    8. XM_047447909.1 → XP_047303865.1  POC1 centriolar protein homolog A isoform X7

    9. XM_011533565.3 → XP_011531867.1  POC1 centriolar protein homolog A isoform X7

      See identical proteins and their annotated locations for XP_011531867.1

      Conserved Domains (2) summary
      cd00200
      Location:7 → 226
      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:23 → 59
      7WD40; WD40 repeat [structural motif]

    RNA

    1. XR_007095660.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      52108129..52187328 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346031.1 → XP_054202006.1  POC1 centriolar protein homolog A isoform X3

    2. XM_054346029.1 → XP_054202004.1  POC1 centriolar protein homolog A isoform X1

    3. XM_054346034.1 → XP_054202009.1  POC1 centriolar protein homolog A isoform X6

    4. XM_054346030.1 → XP_054202005.1  POC1 centriolar protein homolog A isoform X2

      UniProtKB/TrEMBL
      B2RDV4

    5. XM_054346032.1 → XP_054202007.1  POC1 centriolar protein homolog A isoform X4

      UniProtKB/TrEMBL
      B2RDV4

    6. XM_054346036.1 → XP_054202011.1  POC1 centriolar protein homolog A isoform X7

    7. XM_054346033.1 → XP_054202008.1  POC1 centriolar protein homolog A isoform X5

    8. XM_054346035.1 → XP_054202010.1  POC1 centriolar protein homolog A isoform X7

    9. XM_054346037.1 → XP_054202012.1  POC1 centriolar protein homolog A isoform X7

    RNA

    1. XR_008486697.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NBT0.2 GenPept UniProtKB/Swiss-Prot:Q8NBT0

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