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    POC5 POC5 centriolar protein [ Homo sapiens (human) ]

    Gene ID: 134359, updated on 27-Nov-2024

    Summary

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    Official Symbol
    POC5provided by HGNC
    Official Full Name
    POC5 centriolar proteinprovided by HGNC
    Primary source
    HGNC:HGNC:26658
    See related
    Ensembl:ENSG00000152359 MIM:617880; AllianceGenome:HGNC:26658
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C5orf37
    Summary
    Located in centrosome; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 10.4), lymph node (RPKM 4.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See POC5 in Genome Data Viewer
    Location:
    5q13.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (75674124..75717437, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (76155204..76198513, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (74969949..75013262, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene DNA polymerase kappa Neighboring gene RNA, U7 small nuclear 175 pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:74861405-74862604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22683 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:74884456-74885040 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:74905964-74906771 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:74906772-74907578 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:74907579-74908385 Neighboring gene ankyrin repeat and death domain containing 1B Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:74959194-74960393 Neighboring gene NANOG hESC enhancer GRCh37_chr5:74962804-74963305 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:74991871-74992409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22684 Neighboring gene RNA, U6 small nuclear 680, pseudogene Neighboring gene uncharacterized LOC441087 Neighboring gene solute carrier family 25 member 5 pseudogene 9 Neighboring gene karyopherin subunit alpha 7 pseudogene

    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. Common Variant of POC5 Is Associated With the Susceptibility of Adolescent Idiopathic Scoliosis. Xu L, et al. Spine (Phila Pa 1976), 2018 Jun 15. PMID 29189569
    2. hPOC5 is a centrin-binding protein required for assembly of full-length centrioles. Azimzadeh J, et al. J Cell Biol, 2009 Apr 6. PMID 19349582, Free PMC Article
    3. Prevalence of POC5 Coding Variants in French-Canadian and British AIS Cohort. Mathieu H, et al. Genes (Basel), 2021 Jul 1. PMID 34356048, Free PMC Article
    4. Differential Regulation of POC5 by ERα in Human Normal and Scoliotic Cells. Hassan A, et al. Genes (Basel), 2023 May 19. PMID 37239471, Free PMC Article
    5. Functional variants of POC5 identified in patients with idiopathic scoliosis. Patten SA, et al. J Clin Invest, 2015 Mar 2. PMID 25642776, Free PMC Article

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Differential Regulation of POC5 by ERalpha in Human Normal and Scoliotic Cells.
      Title: Differential Regulation of POC5 by ERα in Human Normal and Scoliotic Cells.
    2. Prevalence of POC5 Coding Variants in French-Canadian and British AIS Cohort.
      Title: Prevalence of POC5 Coding Variants in French-Canadian and British AIS Cohort.
    3. POC5 mutation is associated with impairment of cell cycle, cilia length and centrosome protein interactions in Adolescent idiopathic scoliosis.
      Title: Adolescent idiopathic scoliosis associated POC5 mutation impairs cell cycle, cilia length and centrosome protein interactions.
    4. The findings demonstrate that Poc5 is important for normal retinal development and function. Altogether, this study presents POC5 as a novel gene involved autosomal recessively inherited RP, and strengthens the hypothesis that mutations in centriolar proteins are important cause of retinal dystrophies.
      Title: Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.
    5. Common variant rs6892146 of POC5 is associated with the development of adolescent idiopathic scoliosis in the Chinese population.
      Title: Common Variant of POC5 Is Associated With the Susceptibility of Adolescent Idiopathic Scoliosis.
    6. Depletion of CEP295 blocks the incorporation of POC5 and POC1B into the distal portion of centrioles and suppresses the post-translational modification of centriolar microtubules . Our study thus uncovers a new role for CEP295 during centriole elongation.
      Title: CEP295 interacts with microtubules and is required for centriole elongation.
    7. Mutations in the POC5 gene contribute to the occurrence of idiopathic scoliosis.
      Title: Functional variants of POC5 identified in patients with idiopathic scoliosis.
    8. Data indicate that overexpression of the centrin interactor POC5 leads to the assembly of linear, centrin-dependent structures.
      Title: Calcium-binding capacity of centrin2 is required for linear POC5 assembly but not for nucleotide excision repair.
    9. hPOC5, a conserved centrin-binding protein that contains Sfi1p-like repeats is characterized.
      Title: hPOC5 is a centrin-binding protein required for assembly of full-length centrioles.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ35779, MGC120442, MGC120443, MGC120444

    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 eye photoreceptor cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in centriole IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in photoreceptor connecting cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    centrosomal protein POC5
    Names
    POC5 centriolar protein homolog
    hPOC5
    protein of centriole 5
    proteome of centriole 5

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001099271.2 → NP_001092741.1  centrosomal protein POC5 isoform 1

      See identical proteins and their annotated locations for NP_001092741.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC010245, BC010695, BJ991592, CA441610
      Consensus CDS
      CCDS47236.1
      UniProtKB/Swiss-Prot
      B4DJG7, Q494X7, Q494X9, Q6P085, Q8NA72
      UniProtKB/TrEMBL
      D6RDG4
      Related
      ENSP00000410216.2, ENST00000428202.7
      Conserved Domains (1) summary
      PRK14951
      Location:403 → 537
      PRK14951; DNA polymerase III subunits gamma and tau; Provisional

    2. NM_152408.3 → NP_689621.2  centrosomal protein POC5 isoform 2

      See identical proteins and their annotated locations for NP_689621.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences in the presence and absence of exons at its 5' end, compared to variant 1. These differences produce a unique 5' UTR and cause translation initiation at a unique start codon, compared to variant 1. The encoded protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      AC010245, BC101327, CA441610, DB448626
      Consensus CDS
      CCDS47237.1
      UniProtKB/TrEMBL
      D6RDG4
      Related
      ENSP00000399481.2, ENST00000446329.6
      Conserved Domains (1) summary
      cl26386
      Location:378 → 512
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      75674124..75717437 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543160.2 → XP_011541462.1  centrosomal protein POC5 isoform X4

      See identical proteins and their annotated locations for XP_011541462.1

      UniProtKB/TrEMBL
      D6RDG4
      Conserved Domains (1) summary
      PRK14951
      Location:286 → 420
      PRK14951; DNA polymerase III subunits gamma and tau; Provisional

    2. XM_047416725.1 → XP_047272681.1  centrosomal protein POC5 isoform X3

    3. XM_005248436.2 → XP_005248493.1  centrosomal protein POC5 isoform X1

      UniProtKB/TrEMBL
      D6RDG4
      Conserved Domains (2) summary
      COG1196
      Location:192 → 375
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK14951
      Location:376 → 509
      PRK14951; DNA polymerase III subunits gamma and tau; Provisional

    4. XM_011543158.3 → XP_011541460.1  centrosomal protein POC5 isoform X2

      UniProtKB/TrEMBL
      D6RDG4
      Conserved Domains (1) summary
      PHA03247
      Location:403 → 496
      PHA03247; large tegument protein UL36; Provisional

    5. XM_047416726.1 → XP_047272682.1  centrosomal protein POC5 isoform X4

    6. XM_047416727.1 → XP_047272683.1  centrosomal protein POC5 isoform X4

      Related
      ENSP00000426796.1, ENST00000510798.5

    7. XM_024454363.2 → XP_024310131.1  centrosomal protein POC5 isoform X6

    8. XM_024454362.2 → XP_024310130.1  centrosomal protein POC5 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      76155204..76198513 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351629.1 → XP_054207604.1  centrosomal protein POC5 isoform X4

    2. XM_054351628.1 → XP_054207603.1  centrosomal protein POC5 isoform X3

    3. XM_054351626.1 → XP_054207601.1  centrosomal protein POC5 isoform X1

    4. XM_054351627.1 → XP_054207602.1  centrosomal protein POC5 isoform X2

    5. XM_054351630.1 → XP_054207605.1  centrosomal protein POC5 isoform X4

    6. XM_054351631.1 → XP_054207606.1  centrosomal protein POC5 isoform X4

    7. XM_054351633.1 → XP_054207608.1  centrosomal protein POC5 isoform X6

    8. XM_054351632.1 → XP_054207607.1  centrosomal protein POC5 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NA72.2 GenPept UniProtKB/Swiss-Prot:Q8NA72

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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