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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
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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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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

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