2d68

Structural highlights

Disease

CEP43_HUMAN A chromosomal aberration involving CEP43 may be a cause of stem cell myeloproliferative disorder (MPD). Translocation t(6;8)(q27;p11) with FGFR1. MPD is characterized by myeloid hyperplasia, eosinophilia and T-cell or B-cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. The fusion proteins CEP43-FGFR1 or FGFR1-CEP43 may exhibit constitutive kinase activity and be responsible for the transforming activity (PubMed:9949182).^[1]

Function

CEP43_HUMAN Required for anchoring microtubules to the centrosomes (PubMed:16314388, PubMed:28659385). Required for ciliation (PubMed:28625565, PubMed:28659385).^{[2] [3] [4]}

References

1. ↑ Popovici C, Zhang B, Grégoire MJ, Jonveaux P, Lafage-Pochitaloff M, Birnbaum D, Pébusque MJ. 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. 1999 Feb 15;93(4):1381-9 PMID:9949182
2. ↑ Yan X, Habedanck R, Nigg EA. A complex of two centrosomal proteins, CAP350 and FOP, cooperates with EB1 in microtubule anchoring. Mol Biol Cell. 2006 Feb;17(2):634-44. Epub 2005 Nov 28. PMID:16314388 doi:E05-08-0810
3. ↑ Kanie T, Abbott KL, Mooney NA, Plowey ED, Demeter J, Jackson PK. The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base. Dev Cell. 2017 Jul 10;42(1):22-36.e12. PMID:28625565 doi:10.1016/j.devcel.2017.05.016
4. ↑ Mojarad BA, Gupta GD, Hasegan M, Goudiam O, Basto R, Gingras AC, Pelletier L. CEP19 cooperates with FOP and CEP350 to drive early steps in the ciliogenesis programme. Open Biol. 2017 Jun;7(6):170114. PMID:28659385 doi:10.1098/rsob.170114