C3Orf34 è un gene codificato dal simbolo CEP19. Altri nomi includono: Centrosomal protein of 19 kDa; Cep19; CEP19. C3Orf34 ha una massa di 19.17kDa, una lunghezza di amminoacidi di 163, ed è implicato in Morbid obesity and spermatogenic failure.
Offriamo 4 anticorpi contro C3Orf34, allevati nel Coniglio, che sono adatti per WB, ELISA, IP e Dot con campioni derivati da Umano.
Informazioni su geni e proteine
Riepilogo UniProt
Required for ciliation (PubMed:28625565, PubMed:28428259, PubMed:28659385). Recruits the RABL2B GTPase to the ciliary base to initiate ciliation. After specifically capturing the activated GTP-bound RABL2B, the CEP19-RABL2B complex binds intraflagellar transport (IFT) complex B from the large pool pre-docked at the base of the cilium and thus triggers its entry into the cilia (PubMed:28625565, PubMed:28428259). Involved in the early steps in cilia formation by recruiting the ciliary vesicles (CVs) to the distal end of the mother centriole where they fuse to initiate cilium assembly. Involved in microtubule (MT) anchoring to the centrosomes (PubMed:28659385).
Sommario di Entrez
The protein encoded by this gene localizes to centrosomes and primary cilia and co-localizes with a marker for the mother centriole. This gene resides in a region of human chromosome 3 that is linked to morbid obesity. A homozygous knockout of the orthologous gene in mouse resulted in mice with morbid obesity, hyperphagy, glucose intolerance, and insulin resistance. Mutations in this gene cause morbid obesity and spermatogenic failure (MOSPGF). This gene has a pseudogene on human chromosome 2.
Coinvolgimento nella malattia
Morbid obesity and spermatogenic failure: An autosomal recessive morbid obesity syndrome characterized by hypertension, fatty liver disease, insulin resistance, and decreased sperm counts. Variable clinical manifestations are early coronary artery disease with myocardial infarction before 45 years of age, type II diabetes mellitus, and intellectual disability. Morbid obese individuals are defined as having a BMI greater than 40.
Somiglianze di sequenza
Belongs to the CEP19 family.
Posizione cellulare
Cytoplasm > Cytoskeleton > Microtubule organizing center > Centrosome > Centriole. Cytoplasm > Cytoskeleton > Spindle pole. Cytoplasm > Cytoskeleton > Cilium basal body.
Associates with the mother centriole in early interphase. Localizes to spindle poles during mitosis, and to distinct foci oriented towards the midbody at telophase (PubMed:21399614). Localizes slightly apical to the subdistal appendage on the mother centriole, but below the distal appendage (PubMed:28625565, PubMed:28659385).
