CEP43 (centrosomal protein 43)

Gene

• Entrez ID: 11116
• Gene name: Centrosomal protein 43
• Gene symbol: CEP43
• Synonyms (NCBI Gene): FGFR1OP, FOP
• Chromosome: 6
• Chromosome location: 6q27
• 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17888034, 25416956, 26638075, 28428259, 28514442, 28625565, 28659385, 31837246, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IDA	17888034
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	16690081, 17888034, 21399614
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IDA	23554904, 32946374
GO:0005814	Component	Centriole	IEA
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0006469	Process	Negative regulation of protein kinase activity	IDA	17888034
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	17888034
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0019901	Function	Protein kinase binding	IPI	17888034
GO:0030030	Process	Cell projection organization	IEA
GO:0030292	Function	Protein tyrosine kinase inhibitor activity	IDA	17888034
GO:0030307	Process	Positive regulation of cell growth	IDA	17888034
GO:0030335	Process	Positive regulation of cell migration	IDA	17888034
GO:0034453	Process	Microtubule anchoring	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	16690081
GO:0042995	Component	Cell projection	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	17888034

Other IDs

• MIM: 605392
• HGNC: 17012
• e!Ensembl: ENSG00000213066

Protein

• UniProt ID: O95684
• Protein name: Centrosomal protein 43 (FGFR1 oncogene partner)
• Protein function: Required for anchoring microtubules to the centrosomes (PubMed:16314388, PubMed:28659385). Required for ciliation (PubMed:28625565, PubMed:28659385).
• PDB: 2D68
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09398	FOP_dimer	54 → 134	FOP N terminal dimerisation domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Highly expressed in heart, liver, muscle, kidney, intestine, colon, adrenal gland, prostate, testis, and pancreas. {ECO:0000269|PubMed:9949182}.
• Sequence:

  MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNE
  SLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETSTLQGLEGRENLARDLGIIEAE
  GTVGGPLLLEVIRRCQQKEKGPTTGEGALDLSDVHSPPKSPEGKTSAQTTPSKIPRYKGQ
  GKKKTSGQKAGDKKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDK
  AGLCPDEDDMEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAP
  SLKDSESKRGNTVLKDLKLISDKIGSLGLGTGEDDDYVDDFNSTSHRSEKSEISIGEEIE
  EDLSVEIDDINTSDKLDDLTQDLTVSQLSDVADYLEDVA

• Sequence length: 399

Pathways

Reactome:

Signaling by cytosolic FGFR1 fusion mutants
Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
Signaling by FGFR1 in disease
AURKA Activation by TPX2

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Associated diseases

Unknown
Disease merge term	Disease name	Evidence	References	Source
Biliary Cholangitis	Primary biliary cholangitis	N/A	N/A	GWAS
Carcinoma	Basal cell carcinoma	N/A	N/A	GWAS
Crohn Disease	Crohn's disease	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Inflammatory Bowel Disease	Inflammatory bowel disease (MTAG)	N/A	N/A	GWAS
Myasthenia Gravis	Myasthenia gravis	N/A	N/A	GWAS