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CEP15 centrosomal protein 15 [ Homo sapiens (human) ]

Gene ID: 57415, updated on 5-Mar-2024

Summary

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Official Symbol
CEP15provided by HGNC
Official Full Name
centrosomal protein 15provided by HGNC
Primary source
HGNC:HGNC:25024
See related
Ensembl:ENSG00000114405 AllianceGenome:HGNC:25024
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
HT021; C3orf14
Expression
Broad expression in brain (RPKM 5.7), testis (RPKM 2.9) and 21 other tissues See more
Orthologs
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Genomic context

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Location:
3p14.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (62319022..62336213)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (62362532..62379727)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (62304697..62321888)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene protein tyrosine phosphatase receptor type G Neighboring gene uncharacterized LOC124909389 Neighboring gene PTPRG antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 9750 Neighboring gene VISTA enhancer hs434 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:62353809-62354715 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:62354716-62355621 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:62357949-62358508 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:62358509-62359066 Neighboring gene VISTA enhancer hs435 Neighboring gene uncharacterized LOC105377647 Neighboring gene FEZ family zinc finger 2

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. DNA methylation in glioblastoma: impact on gene expression and clinical outcome. Etcheverry A, et al. BMC Genomics, 2010 Dec 14. PMID 21156036, Free PMC Article
  2. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. Hu RM, et al. Proc Natl Acad Sci U S A, 2000 Aug 15. PMID 10931946, Free PMC Article
  3. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
  4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. Gupta GD, et al. Cell, 2015 Dec 3. PMID 26638075, Free PMC Article

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in cilium IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
centrosomal protein 15; centrosomal protein 15 kDa
Names
uncharacterized protein C3orf14

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_001291941.3 → NP_001278870.1  centrosomal protein 15 isoform a

    See identical proteins and their annotated locations for NP_001278870.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    AC092502, AF236158, BE047745, DA783189
    Consensus CDS
    CCDS2896.1
    UniProtKB/Swiss-Prot
    B2R9U0, Q9HBI5
    Related
    ENSP00000419977.1, ENST00000462069.6
    Conserved Domains (1) summary
    pfam15134
    Location:1 → 110
    DUF4570; Domain of unknown function (DUF4570)

  2. NM_001291942.3 → NP_001278871.1  centrosomal protein 15 isoform a

    See identical proteins and their annotated locations for NP_001278871.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    AC092502, BE047745, BU568674
    Consensus CDS
    CCDS2896.1
    UniProtKB/Swiss-Prot
    B2R9U0, Q9HBI5
    Related
    ENSP00000232519.5, ENST00000232519.9
    Conserved Domains (1) summary
    pfam15134
    Location:1 → 110
    DUF4570; Domain of unknown function (DUF4570)

  3. NM_001291943.2 → NP_001278872.1  centrosomal protein 15 isoform b

    See identical proteins and their annotated locations for NP_001278872.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, the 3' UTR, and the 3' coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    DA615061
    Related
    ENST00000486169.5
    Conserved Domains (1) summary
    pfam15134
    Location:1 → 59
    DUF4570; Domain of unknown function (DUF4570)

  4. NM_020685.6 → NP_065736.1  centrosomal protein 15 isoform a

    See identical proteins and their annotated locations for NP_065736.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    AC092502, AK313915, BE047745
    Consensus CDS
    CCDS2896.1
    UniProtKB/Swiss-Prot
    B2R9U0, Q9HBI5
    Related
    ENSP00000418086.1, ENST00000494481.5
    Conserved Domains (1) summary
    pfam15134
    Location:1 → 110
    DUF4570; Domain of unknown function (DUF4570)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    62319022..62336213
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006931.2 → XP_016862420.1  centrosomal protein 15 kDa isoform X1

    UniProtKB/Swiss-Prot
    B2R9U0, Q9HBI5
    Conserved Domains (1) summary
    pfam15134
    Location:1 → 110
    DUF4570; Domain of unknown function (DUF4570)

  2. XM_047448631.1 → XP_047304587.1  centrosomal protein 15 kDa isoform X1

    UniProtKB/Swiss-Prot
    B2R9U0, Q9HBI5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    62362532..62379727
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054347373.1 → XP_054203348.1  centrosomal protein 15 kDa isoform X1

    UniProtKB/Swiss-Prot
    B2R9U0, Q9HBI5

  2. XM_054347372.1 → XP_054203347.1  centrosomal protein 15 kDa isoform X1

    UniProtKB/Swiss-Prot
    B2R9U0, Q9HBI5
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HBI5.1 GenPept UniProtKB/Swiss-Prot:Q9HBI5

Gene LinkOut

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