CEP43
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCEP43, FOP, FGFR1 oncogene partner, centrosomal protein 43, FGFR1OP
External IDsOMIM: 605392 MGI: 1922546 HomoloGene: 5116 GeneCards: CEP43
Orthologs
SpeciesHumanMouse
Entrez

11116

75296

Ensembl

ENSG00000213066

ENSMUSG00000069135

UniProt

O95684

Q66JX5

RefSeq (mRNA)

NM_194429
NM_001278690
NM_007045

NM_001197046
NM_201230

RefSeq (protein)

NP_001265619
NP_008976
NP_919410

NP_001183975
NP_957682

Location (UCSC)Chr 6: 167 – 167.09 MbChr 17: 8.38 – 8.42 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

FGFR1 oncogene partner is a protein that in humans is encoded by the FGFR1OP gene.[5][6][7]

Function

This gene encodes a largely hydrophilic protein postulated to be a leucine-rich protein family member. 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. This gene is thought to play an important role in normal proliferation and differentiation of the erythroid lineage. Alternatively spliced transcript variants that encode different proteins have been identified.[7]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000213066 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000069135 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Popovici C, Zhang B, Grégoire MJ, Jonveaux P, Lafage-Pochitaloff M, Birnbaum D, Pébusque MJ (February 1999). "The t(6;8)(q27;p11) translocation in a stem cell myeloproliferative disorder fuses a novel gene, FOP, to fibroblast growth factor receptor 1". Blood. 93 (4): 1381–9. doi:10.1182/blood.V93.4.1381. PMID 9949182.
  6. Reither A, Hehlmann R, Goldman JM, Cross NC (April 1999). "[The 8p11 myeloproliferative syndrome]". Medizinische Klinik. 94 (4): 207–10. doi:10.1007/BF03044856. PMID 10373756. S2CID 6808400.
  7. 1 2 "Entrez Gene: FGFR1OP FGFR1 oncogene partner".

Further reading

  • Media related to FGFR1OP at Wikimedia Commons


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