CEP43 centrosomal protein 43 [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:17012
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: mouse all
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Genomic context

Location:: 6q27

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (166999397..167052718)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (168383647..168436936)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (167412885..167466206)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

We show that Fop mutation perturbs ciliogenesis in vivo and that this leads to the alteration of the Hedgehog signaling pathway. Fop mutation reduces CSs movements and affects pericentriolar material composition, which probably participates to the ciliogenesis defect.
Title: Mutation of FOP/FGFR1OP in mice recapitulates human short rib-polydactyly ciliopathy.
The rs151606 T>G was associated with an increased risk of lung cancer and rs12212247 T>C was associated with a decreased risk of lung cancer
Title: Polymorphisms of the centrosomal gene (FGFR1OP) and lung cancer risk: a meta-analysis of 14,463 cases and 44,188 controls.
This study was designed to determine the association of CCR6 and FGFR10P (tag)single nucleotide polymorphisms with Vogt-Koyanagi-Harada (VKH) syndrome, in two independent Chinese Han populations.
Title: FGFR1OP tagSNP but not CCR6 polymorphisms are associated with Vogt-Koyanagi-Harada syndrome in Chinese Han.
FOP is a centriolar satellite protein involved in ciliogenesis.
Title: FOP is a centriolar satellite protein involved in ciliogenesis.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.
Since FGFR1OP is plays a significant role in lung cancer growth and progression, it may be useful as a prognostic biomarker and as a therapeutic target for lung cancer.
Title: Fibroblast growth factor receptor 1 oncogene partner as a novel prognostic biomarker and therapeutic target for lung cancer.
CAP350 interacts directly with FOP (FGFR1 oncogene partner) to form a centrosomal complex required for microtubule anchoring.
Title: A complex of two centrosomal proteins, CAP350 and FOP, cooperates with EB1 in microtubule anchoring.
a 1.6A resolution crystal structure of the N-terminal dimerization domain of FOP. The structure comprises an alpha-helical bundle composed of two antiparallel chains, each of them having five alpha-helices.
Title: Structure of the N-terminal domain of the FOP (FGFR1OP) protein and implications for its dimerization and centrosomal localization.

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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
A genome-wide association study identifies two new risk loci for Graves' disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH102124 (e-PCR)
- UniSTS:96458

SHGC-77766 (e-PCR)
- UniSTS:95948

STS-N39149 (e-PCR)
- UniSTS:7641

FGFR1OP_7994 (e-PCR)
- UniSTS:467690

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

Process	Evidence Code	Pubs
involved_in cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in microtubule anchoring	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	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
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

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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)

NM_001278690.2 → NP_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:54 → 134

FOP_dimer; FOP N terminal dimerization domain
NM_007045.4 → NP_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

A8K1D1, B2R705, O95684, Q49AI0, Q5R3F6, Q96EW1

UniProtKB/TrEMBL

A0A994J518, A0A994J7D3

Related

ENSP00000355812.3, ENST00000366847.9

Conserved Domains (1) summary

pfam09398
Location:54 → 134

FOP_dimer; FOP N terminal dimerization domain
NM_194429.3 → NP_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/TrEMBL

A0A994J518, A0A994J7D3

Related

ENSP00000230248.6, ENST00000349556.5

Conserved Domains (1) summary

pfam09398
Location:54 → 134

FOP_dimer; FOP N terminal dimerization domain