Orai1 è un gene codificato dal simbolo ORAI1. Comunemente indicato anche come: Calcium release-activated calcium channel protein 1; Protein orai-1; Transmembrane protein 142A; CRACM1; TMEM142A. Orai1 ha una massa di 32.67kDa, una lunghezza di amminoacidi di 301, ed è implicato nella malattia: Immunodeficiency 9; Myopathy, tubular aggregate, 2.
Offriamo 10 anticorpi contro Orai1, allevati nel Coniglio, Topo, Capra e Human, che sono adatti per WB, IHC e ELISA con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Ca(2+) release-activated Ca(2+) (CRAC) channel subunit which mediates Ca(2+) influx following depletion of intracellular Ca(2+) stores and channel activation by the Ca(2+) sensor, STIM1 (PubMed:16582901, PubMed:16645049, PubMed:16733527, PubMed:16766533, PubMed:16807233, PubMed:19249086, PubMed:23307288, PubMed:24351972, PubMed:24591628, PubMed:28219928, PubMed:20354224, PubMed:26956484). CRAC channels are the main pathway for Ca(2+) influx in T-cells and promote the immune response to pathogens by activating the transcription factor NFAT (PubMed:16582901).
Sommario di Entrez
The protein encoded by this gene is a membrane calcium channel subunit that is activated by the calcium sensor STIM1 when calcium stores are depleted. This type of channel is the primary way for calcium influx into T-cells. Defects in this gene are a cause of immune dysfunction with T-cell inactivation due to calcium entry defect type 1 (IDTICED1).
Specificità del tessuto
Expressed in naive CD4 and CD8 T cells (at protein level) (PubMed:26956484). Expressed at similar levels in naive and effector T helper cells (PubMed:20354224).
Coinvolgimento nella malattia
Immunodeficiency 9: An immune disorder characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, and normal lymphocytes counts and serum immunoglobulin levels. In surviving patients ectodermal dysplasia with anhidrosis and non-progressive myopathy may be observed.
Myopathy, tubular aggregate, 2: A rare congenital myopathy characterized by regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates in muscle are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. TAM2 patients have myopathy and pupillary abnormalities.
Somiglianze di sequenza
Belongs to the Orai family.
Modifica post-translazionale
N-glycosylated (PubMed:19249086, PubMed:26956484). N-glycosylation inhibits channel activity in T cells (PubMed:26956484).
Posizione cellulare
Cell membrane.
Isoform beta is more mobile in the plasma membrane (PubMed:23307288). Colocalizes with STIM1 at the cell membrane (PubMed:27185316).
