1. Gene
  2. CEP43 - centrosomal protein 43 Gene

CEP43 - centrosomal protein 43 Gene

Homo sapiens

Also known as FOP; FGFR1OP

Gene ID: 11116 | Gene type: protein coding

About CEP43

Cytogenetic location: 6q27 Genomic coordinates (GRCh38): 6:166,999,397-167,052,718 (from NCBI)

This gene has 41 transcripts (splice variants), 197 orthologues and is associated with 51 phenotypes. Broad expression in testis (RPKM 19.6), adrenal (RPKM 5.3) and 24 other tissues.

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]

CEP43 Products(3)

mRNA Protein Name
NM_001278690.2 NP_001265619.1 centrosomal protein 43 isoform c
NM_007045.4 NP_008976.1 centrosomal protein 43 isoform a
NM_194429.3 NP_919410.1 centrosomal protein 43 isoform b

CEP43 Protein Structure

FOP_dimer

FOP_dimer: FOP N terminal dimerisation domain (54 - 134)

  • 0
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  • 200
  • 300
  • 399 a.a.
Protein Preferred Names Protein Names

centrosomal protein 43

FGFR1 oncogene partner

Recombinant CEP43 Proteins

Cat. No. Product Name Accession Purity
HY-P76927 FGFR1OP Protein, Human (sf9, His-GST) O95684-2 (A2-A379) ≥95%

Related Diseases

Diseases Alias
Graves' Disease

Graves Disease

Exophthalmic Goiter

Basedow'S Disease

Grave'S Disease

Basedow Disease

Toxic Diffuse Goiter

Graves' Hyperthyroidism

Parry Disease

Autoimmune Hyperthyroidism

Toxic Multinodular Goiter

Crohn'S Disease

Crohn Disease

Pediatric Crohn'S Disease

Regional Enteritis

Crohn'S Disease Of Large Bowel

Granulomatous Colitis

Enteritis, Granulomatous

Enteritis

Crohn'S Disease Of Colon

Colitis, Granulomatous

Crohn'S Enteritis

Enteritis, Regional

Ileitis

Adenoviral Enteritis

Acute Gastroenteropathy Due To Norwalk Agent

Viral Gastroenteritis Due To Norwalk Agent

Winter Vomiting

Epidemic Winter Vomiting Disease

Small Round Structured Virus Enteritis

Epidemic Vomiting Syndrome

Epidemic Vomiting

Epidemic Nausea

Epidemic Viral Gastroenteritis Due To Norwalk Virus

Noroviral Enteritis

Crohn Disease Nos

Crohns

Cd - [Crohn'S Disease]

Regional Enteritis Of Bowel

Crohn'S Regional Enteritis

Cobble-Stone Appearance Of Intestine

Intestinal Ulcer And Erosion Due To Crohn Disease

Granulomatous Enteritis

Myeloproliferative Neoplasm

Myeloproliferative Disorder

Chronic Myeloproliferative Disease

Myeloproliferative Neoplasms

Chronic Myeloproliferative Disorder

Cmpd

Cmpd, U

Chronic Myeloproliferative Disorders

Mpd

Mpn

Myeloproliferative Disorders

Myeloproliferative Disease

Campomelic Dysplasia

Lymphoblastic Lymphoma

Lymphoma, Lymphoblastic

Lymphoma Lymphoblastic

Precursor Cell Lymphoblastic Lymphoma

Precursor Cell Lymphoblastic Leukemia Lymphoma

Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus CEP43 MGD MGI:1922546
Felis catus CEP43 VGNC VGNC:62259
Bos taurus CEP43 VGNC VGNC:28985
Canis familiaris CEP43 VGNC VGNC:40857
Rattus norvegicus CEP43 RGD RGD:1583370
Macaca mulatta CEP43 VGNC VGNC:72519
Others CEP43 NCBI