CEP43 - centrosomal protein 43 Gene

Also Known as FOP; FGFR1OP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 11116

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
17888034 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
16690081 GOA
enables protein kinase binding IPI
IPI: Inferred from physical interaction
17888034 GOA
enables protein tyrosine kinase inhibitor activity IDA
IDA: Inferred from direct assay
17888034 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of protein kinase activity IDA
IDA: Inferred from direct assay
17888034 GOA
involved in positive regulation of cell growth IDA
IDA: Inferred from direct assay
17888034 GOA
involved in positive regulation of cell migration IDA
IDA: Inferred from direct assay
17888034 GOA
involved in positive regulation of cell population proliferation IDA
IDA: Inferred from direct assay
17888034 GOA
Cellular Component GO Annotation Evidence References Source
located in centriole IDA
IDA: Inferred from direct assay
23554904 GOA
located in centrosome IDA
IDA: Inferred from direct assay
16690081 GOA
located in nucleus IDA
IDA: Inferred from direct assay
17888034 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
17888034 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CEP43 Protein Structure

FOP_dimer

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

  • 0
  • 100
  • 200
  • 300
  • 399 a.a.
Protein Preferred Names Protein Names

centrosomal protein 43

  • FGFR1 oncogene partner

CEP43 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CEP43 O95684 S100A6 Homo sapiens P06703
FPS
31837246
Intra
CEP43 O95684 CEP19 Homo sapiens Q96LK0 25416956
Intra
CEP43 O95684 CEP19 Homo sapiens Q96LK0 33961781
Intra
CEP43 O95684 CEP19 Homo sapiens Q96LK0 25416956
Intra
CEP43 O95684 VASP Homo sapiens P50552 33961781
Intra
CEP43 O95684 VASP Homo sapiens P50552 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CEP43 Proteins

Cat. No. Product Name Accession Purity
HY-P76927 FGFR1OP Protein, Human (sf9, His-GST) O95684-2 (A2-A379) ≥ 85%, as determined by reducing SDS-PAGE.

CEP43 Antibodies

Cat. No. Product Name Application Reactivity
HY-P80396 FGFR1 Oncogene Partner Antibody (YA440) WB, IHC-P Human, Mouse, Rat
HY-P810798 FOP Antibody (YA10041) WB, ICC/IF Human, Mouse, Rat

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