Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	11116
Gene name Gene Name - the full gene name approved by the HGNC.	Centrosomal protein 43
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CEP43
Synonyms (NCBI Gene) Gene synonyms aliases	FGFR1OP, FOP
Disease Acronyms (UniProt) Disease acronyms from UniProt database	FOP
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q27
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000086	Process	G2/M transition of mitotic cell cycle	TAS
GO:0005515	Function	Protein binding	IPI	17888034, 25416956, 26638075, 28428259, 28625565, 28659385, 31837246
GO:0005634	Component	Nucleus	IDA	17888034
GO:0005813	Component	Centrosome	IBA	21873635
GO:0005813	Component	Centrosome	IDA	16690081, 17888034, 21399614
GO:0005814	Component	Centriole	IDA	23554904
GO:0005829	Component	Cytosol	TAS
GO:0006469	Process	Negative regulation of protein kinase activity	IDA	17888034
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	17888034
GO:0010389	Process	Regulation of G2/M transition of mitotic cell cycle	TAS
GO:0019901	Function	Protein kinase binding	IPI	17888034
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
GO:0061099	Process	Negative regulation of protein tyrosine kinase activity	IEA
GO:0097711	Process	Ciliary basal body-plasma membrane docking	TAS

MIM	HGNC	e!Ensembl
605392	17012	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

Interactions

View interactions

	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

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039 View all (4 more)	22190364
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	26974007

Show/Hide Unknown Diseases (8)

Disease term	Disease name	References	Source
Unknown
Asthma	Asthma	21150878	ClinVar
Crohn disease	Crohn Disease	18587394, 26974007, 20570966	ClinVar
Crohn Disease	Crohn Disease		GWAS
Myasthenia Gravis	Myasthenia Gravis		GWAS
Carcinoma	Carcinoma		GWAS
Biliary Cholangitis	Biliary Cholangitis		GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease		GWAS
Diabetes	Diabetes		GWAS

CEP43 (centrosomal protein 43)