SLC8A3

SLC8A3
Ідентифікатори
Символи SLC8A3, NCX3, solute carrier family 8 member A3
Зовнішні ІД OMIM: 607991 MGI: 107976 HomoloGene: 62645 GeneCards: SLC8A3
Пов'язані генетичні захворювання
муковісцидоз[1]
Ортологи
Види Людина Миша
Entrez
Ensembl
UniProt
RefSeq (мРНК)
NM_001167920
NM_080440
RefSeq (білок)
NP_001161392
NP_536688
Локус (UCSC) Хр. 14: 70.04 – 70.19 Mb Хр. 12: 81.24 – 81.38 Mb
PubMed search [2] [3]
Вікідані
Див./Ред. для людейДив./Ред. для мишей

SLC8A3 (англ. Solute carrier family 8 member A3) – білок, який кодується однойменним геном, розташованим у людей на 14-й хромосомі.[4] Довжина поліпептидного ланцюга білка становить 927 амінокислот, а молекулярна маса — 103 010[5].

Послідовність амінокислот
1020304050
MAWLRLQPLTSAFLHFGLVTFVLFLNGLRAEAGGSGDVPSTGQNNESCSG
SSDCKEGVILPIWYPENPSLGDKIARVIVYFVALIYMFLGVSIIADRFMA
SIEVITSQEREVTIKKPNGETSTTTIRVWNETVSNLTLMALGSSAPEILL
SLIEVCGHGFIAGDLGPSTIVGSAAFNMFIIIGICVYVIPDGETRKIKHL
RVFFITAAWSIFAYIWLYMILAVFSPGVVQVWEGLLTLFFFPVCVLLAWV
ADKRLLFYKYMHKKYRTDKHRGIIIETEGDHPKGIEMDGKMMNSHFLDGN
LVPLEGKEVDESRREMIRILKDLKQKHPEKDLDQLVEMANYYALSHQQKS
RAFYRIQATRMMTGAGNILKKHAAEQAKKASSMSEVHTDEPEDFISKVFF
DPCSYQCLENCGAVLLTVVRKGGDMSKTMYVDYKTEDGSANAGADYEFTE
GTVVLKPGETQKEFSVGIIDDDIFEEDEHFFVRLSNVRIEEEQPEEGMPP
AIFNSLPLPRAVLASPCVATVTILDDDHAGIFTFECDTIHVSESIGVMEV
KVLRTSGARGTVIVPFRTVEGTAKGGGEDFEDTYGELEFKNDETVKTIRV
KIVDEEEYERQENFFIALGEPKWMERGISALLLSPDVTDRKLTMEEEEAK
RIAEMGKPVLGEHPKLEVIIEESYEFKTTVDKLIKKTNLALVVGTHSWRD
QFMEAITVSAAGDEDEDESGEERLPSCFDYVMHFLTVFWKVLFACVPPTE
YCHGWACFAVSILIIGMLTAIIGDLASHFGCTIGLKDSVTAVVFVAFGTS
VPDTFASKAAALQDVYADASIGNVTGSNAVNVFLGIGLAWSVAAIYWALQ
GQEFHVSAGTLAFSVTLFTIFAFVCISVLLYRRRPHLGGELGGPRGCKLA
TTWLFVSLWLLYILFATLEAYCYIKGF

Задіяний у таких біологічних процесах, як транспорт іонів, транспорт, транспорт натрію, транспорт кальцію, альтернативний сплайсинг. Білок має сайт для зв'язування з молекулою кальмодуліну, іонами металів, іоном кальцію, іоном натрію. Локалізований у клітинній мембрані, цитоплазмі, мембрані, мітохондрії, клітинних контактах, ендоплазматичному ретикулумі, клітинних відростках, зовнішній мембрані мітохондрій.

Література

  • Gabellini N., Bortoluzzi S., Danieli G.A., Carafoli E. (2002). The human SLC8A3 gene and the tissue-specific Na+/Ca2+ exchanger 3 isoforms. Gene. 298: 1—7. PMID 12406570 DOI:10.1016/S0378-1119(02)00982-4
  • Gabellini N., Bortoluzzi S., Danieli G.A., Carafoli E. (2003). Control of the Na+/Ca2+ exchanger 3 promoter by cyclic adenosine monophosphate and Ca2+ in differentiating neurons. J. Neurochem. 84: 282—293. PMID 12558991 DOI:10.1046/j.1471-4159.2003.01511.x
  • Lindgren R.M., Zhao J., Heller S., Berglind H., Nister M. (2005). Molecular cloning and characterization of two novel truncated isoforms of human Na+/Ca2+ exchanger 3, expressed in fetal brain. Gene. 348: 143—155. PMID 15777725 DOI:10.1016/j.gene.2005.01.003
  • The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 14: 2121—2127. 2004. PMID 15489334 DOI:10.1101/gr.2596504
  • Khananshvili D. (2013). The SLC8 gene family of sodium-calcium exchangers (NCX) - structure, function, and regulation in health and disease. Mol. Aspects Med. 34: 220—235. PMID 23506867 DOI:10.1016/j.mam.2012.07.003

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