ABCC8

ABCC8
Tanımlayıcılar
Başka adlarABCC8
Dış kimliklerOMIM: 600509 MGI: 1352629 HomoloGene: 68048 GeneCards: ABCC8
Gen yerleşimi (İnsan)
11. Kromozom (insan)
Krom.11. Kromozom (insan)[1]
11. Kromozom (insan)
ABCC8 için genom yerleşimi
ABCC8 için genom yerleşimi
Bant11p15.1Başlangıç17,392,498 [1]
Bitiş17,476,894 [1]
RNA ekspresyonu deseni
Daha çok ekspresyon verisi başvurusu
Gen ontolojisi
Moleküler işlevi nucleotide binding
transmembrane transporter binding
sulfonylurea receptor activity
ATPase activity
ATP binding
ATP-activated inward rectifier potassium channel activity
ATPase-coupled transmembrane transporter activity
GO:0001948, GO:0016582 protein bağlanması
potassium channel activity
Hücresel bileşeni integral component of membrane
membrane
Hücre zarı
inward rectifying potassium channel
Miyolem
mitokondri
synaptic vesicle membrane
Biyolojik süreci regulation of insulin secretion
potassium ion transport
GO:0072468 Sinyal transdüksiyonu
potassium ion transmembrane transport
transmembrane transport
cellular glucose homeostasis
female pregnancy
bellek
visual learning
response to pH
response to zinc ion
negative regulation of low-density lipoprotein particle clearance
negative regulation of angiogenesis
response to lipopolysaccharide
positive regulation of tumor necrosis factor production
response to insulin
positive regulation of potassium ion transport
negative regulation of insulin secretion
negative regulation of neurogenesis
negative regulation of glial cell proliferation
negative regulation of wound healing
negative regulation of neuroblast migration
cellular response to organic substance
positive regulation of uterine smooth muscle relaxation
positive regulation of voltage-gated potassium channel activity
positive regulation of tight junction disassembly
negative regulation of blood-brain barrier permeability
Kaynaklar:Amigo / QuickGO
Ortologlar
TürlerİnsanFare
Entrez

6833

20927

Ensembl

ENSG00000006071

ENSMUSG00000040136

UniProt

Q09428

n/a

RefSeq (mRNA)

NM_000352
NM_001287174
NM_001351295
NM_001351296
NM_001351297

NM_011510
NM_001357538

RefSeq (protein)

NP_000343
NP_001274103
NP_001338224
NP_001338225
NP_001338226

n/a

Yerleşim (UCSC)Krom. 11: 17.39 – 17.48 Mbn/a
PubMed araması[2][3]
Vikiveri
İnsan'ı Gör/DüzenleFare'yi Gör/Düzenle

ATP bağlayıcı kaset taşıyıcı C alt ailesinin 8. üyesi, insanların 11. kromozomunda yer alan ABCC8 geni tarafından kodlanan bir proteindir.[4][5]

Kaynakça

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000006071 - Ensembl, May 2017
  2. ^ "İnsan PubMed Başvurusu:". National Center for Biotechnology Information, U.S. National Library of Medicine. Arşivlenmesi gereken bağlantıya sahip kaynak şablonu içeren maddeler (link)
  3. ^ "Fare PubMed Başvurusu:". National Center for Biotechnology Information, U.S. National Library of Medicine. Arşivlenmesi gereken bağlantıya sahip kaynak şablonu içeren maddeler (link)
  4. ^ Glaser B, Chiu KC, Anker R, Nestorowicz A, Landau H, Ben-Bassat H, ve diğerleri. (June 1994). "Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene". Nature Genetics. 7 (2). ss. 185-188. doi:10.1038/ng0694-185. PMID 7920639. 
  5. ^ Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, ve diğerleri. (April 1995). "Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy". Science. 268 (5209). ss. 426-429. Bibcode:1995Sci...268..426T. doi:10.1126/science.7716548. PMID 7716548.