Sequence Detail

ID/Version

Q6IRU7 (UniProt | EBI)

Last sequence update: 2004-07-05
Last annotation update: 2025-02-05

Sequence description from provider

RecName: Full=Centrosomal protein of 78 kDa {ECO:0000305}; Short=Cep78 {ECO:0000303|PubMed:36206347};

Provider

SWISS-PROT

Sequence

Polypeptide 790 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Cep78	centrosomal protein 78	29	97	3	10

Sequence references in MGI

J:252169 Nikopoulos K, et al., Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. Am J Hum Genet. 2016 Sep 1;99(3):770-776
J:333155 Zhang X, et al., Loss-of-function mutations in CEP78 cause male infertility in humans and mice. Sci Adv. 2022 Oct 7;8(40):eabn0968
J:336106 Zhu T, et al., Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual. Elife. 2023 Feb 9;12