2. Gene
  3. CEP43 - centrosomal protein 43 Gene

CEP43 - centrosomal protein 43 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference 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 Reference
Intra
CEP43 O95684 S100A6 Homo sapiens P06703
FPS
31837246
Intra
CEP43 O95684 CEP19 Homo sapiens Q96LK0
Y2H Array
25416956
Intra
CEP43 O95684 CEP19 Homo sapiens Q96LK0
Anti Tag CoIP
33961781
Intra
CEP43 O95684 CEP19 Homo sapiens Q96LK0
Y2H Prey Pooling
25416956
Intra
CEP43 O95684 VASP Homo sapiens P50552
Anti Tag CoIP
33961781
Intra
CEP43 O95684 VASP Homo sapiens P50552
Y2H Array
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) ≥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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS02515 CEP43 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

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