GRIM19 est un gène codé par le symbole NDUFA13. Communément appelé aussi: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13; Cell death regulatory protein GRIM-19; Complex I-B16.6; CI-B16.6; Gene associated with retinoic and interferon-induced mortality 19 protein; GRIM-19; NADH-ubiquinone oxidoreductase B16.6 subunit; NDUFA13. GRIM19 a une masse de 16.7kDa, une longueur d'acide aminé de 144, et est impliqué dans les maladies: Hurthle cell thyroid carcinoma; Mitochondrial complex I deficiency, nuclear type 28.
Nous proposons 6 des anticorps contre GRIM19, élevé dans Lapin, qui sont appropriés pour le WB, IHC et ELISA avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis (PubMed:27626371). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:27626371). Involved in the interferon/all-trans-retinoic acid (IFN/RA) induced cell death. This apoptotic activity is inhibited by interaction with viral IRF1. Prevents the transactivation of STAT3 target genes. May play a role in CARD15-mediated innate mucosal responses and serve to regulate intestinal epithelial cell responses to microbes (PubMed:15753091).
Résumé Entrez
This gene encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. The protein is required for complex I assembly and electron transfer activity. The protein binds the signal transducers and activators of transcription 3 (STAT3) transcription factor, and can function as a tumor suppressor. The human protein purified from mitochondria migrates at approximately 16 kDa. Transcripts originating from an upstream promoter and capable of expressing a protein with a longer N-terminus have been found, but their biological validity has not been determined.
Spécificité tissulaire
Widely expressed, with highest expression in heart, skeletal muscle, liver, kidney and placenta. In intestinal mucosa, down-regulated in areas involved in Crohn disease and ulcerative colitis.
Implication dans la maladie
Hurthle cell thyroid carcinoma: A rare type of thyroid cancer accounting for only about 3-10% of all differentiated thyroid cancers. These neoplasms are considered a variant of follicular carcinoma of the thyroid and are referred to as follicular carcinoma, oxyphilic type.
Mitochondrial complex I deficiency, nuclear type 28: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN28 transmission pattern is consistent with autosomal recessive inheritance.
Similitudes de séquence
Belongs to the complex I NDUFA13 subunit family.
Localisation cellulaire
Mitochondrion inner membrane. Nucleus.
Localizes mainly in the mitochondrion (PubMed:12628925). May be translocated into the nucleus upon IFN/RA treatment.
