CEP78

84131

CEP78
CEP78
Identifiers
AliasesCEP78, C9orf81, IP63, centrosomal protein 78, CRDHL
External IDsOMIM: 617110; MGI: 1924386; GeneCards: CEP78
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

84131

208518

Ensembl

ENSG00000148019

ENSMUSG00000041491

UniProt

Q5JTW2

Q6IRU7

RefSeq (mRNA)

NM_198019

RefSeq (protein)

NP_932136

Location (UCSC)Chr 9: 78.24 – 78.28 MbChr 19: 15.93 – 15.96 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Centrosomal protein of 78 kDa, also known as Cep78, is a protein that in humans is encoded by the CEP78 gene.[5][6]

Clinical

Mutations in this gene have been associated with cone-rod dystrophy with hearing loss.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000148019 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041491 – 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. ^ "Entrez Gene: centrosomal protein 78kDa".
  6. ^ Andersen JS, Wilkinson CJ, Mayor T, Mortensen P, Nigg EA, Mann M (December 2003). "Proteomic characterization of the human centrosome by protein correlation profiling". Nature. 426 (6966): 570–4. Bibcode:2003Natur.426..570A. doi:10.1038/nature02166. PMID 14654843. S2CID 4427303.
  7. ^ Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T1, De Jaegere S1, Guillemyn B1, De Rycke R13,14, De Bleecker J1, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F (2020) Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss and reduced male fertility. Hum Mutat

Further reading


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