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CEP43 centrosomal protein 43 [ Homo sapiens (human) ]

Gene ID: 11116, updated on 23-Nov-2021

Summary

Official Symbol
CEP43provided by HGNC
Official Full Name
centrosomal protein 43provided by HGNC
Primary source
HGNC:HGNC:17012
See related
Ensembl:ENSG00000213066 MIM:605392
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
FOP; FGFR1OP
Summary
This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn's disease, Graves' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013]
Expression
Broad expression in testis (RPKM 19.6), adrenal (RPKM 5.3) and 24 other tissues See more
Orthologs
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Genomic context

See CEP43 in Genome Data Viewer
Location:
6q27
Exon count:
13
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (166999397..167052718)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (167412885..167466206)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378120 Neighboring gene microRNA 3939 Neighboring gene uncharacterized LOC105378122 Neighboring gene uncharacterized LOC107986672 Neighboring gene C-C motif chemokine receptor 6

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?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies two new risk loci for Graves' disease.
GeneReviews: Not available
Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease.
GeneReviews: Not available
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
GeneReviews: Not available
Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.
GeneReviews: Not available
Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: CCR6

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein tyrosine kinase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in centriole IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
centrosomal protein 43
Names
FGFR1 oncogene partner
fibroblast growth factor receptor 1 oncogene partner

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_001278690.2NP_001265619.1  centrosomal protein 43 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two consecutive in-frame exons in the internal coding region, and uses an alternate splice site at the 3'-terminal exon, compared to variant 1. The encoded isoform (c) is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AK294950, DC418208, Z94721
    Consensus CDS
    CCDS75550.1
    UniProtKB/TrEMBL
    A0A087WV25, B4DH64
    Related
    ENSP00000479115.1, ENST00000622353.4
    Conserved Domains (1) summary
    pfam09398
    Location:54134
    FOP_dimer; FOP N terminal dimerization domain
  2. NM_007045.4NP_008976.1  centrosomal protein 43 isoform a

    See identical proteins and their annotated locations for NP_008976.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AK312791, DC418208, Z94721
    Consensus CDS
    CCDS5296.1
    UniProtKB/Swiss-Prot
    O95684
    Related
    ENSP00000355812.3, ENST00000366847.9
    Conserved Domains (1) summary
    pfam09398
    Location:54134
    FOP_dimer; FOP N terminal dimerization domain
  3. NM_194429.3NP_919410.1  centrosomal protein 43 isoform b

    See identical proteins and their annotated locations for NP_919410.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the internal coding region, compared to variant 1. The encoded isoform (b) is shorter, compared to isoform a.
    Source sequence(s)
    AK289846, Z94721
    Consensus CDS
    CCDS5297.1
    UniProtKB/Swiss-Prot
    O95684
    Related
    ENSP00000230248.6, ENST00000349556.4
    Conserved Domains (1) summary
    pfam09398
    Location:54134
    FOP_dimer; FOP N terminal dimerization domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    166999397..167052718
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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