C3Orf34 est un gène codé par le symbole CEP19. D'autres noms incluent: Centrosomal protein of 19 kDa; Cep19; CEP19. C3Orf34 a une masse de 19.17kDa, une longueur d'acide aminé de 163, et est impliqué dans Morbid obesity and spermatogenic failure.
Nous proposons 4 des anticorps contre C3Orf34, élevé dans Lapin, qui sont appropriés pour le WB, ELISA, IP et Dot avec des échantillons dérivés de Humain.
Informations sur les Gènes et les Protéines
Résumé 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).
Résumé 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.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the CEP19 family.
Localisation cellulaire
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).
