PKD1
polycystic kidney disease 1 (autosomal dominant)
别名:
PBP, Pc-1, TRPP1
物种:
Human PKD1 (5310), Mouse Pkd1 (18763), Rat Pkd1 (24650), Domestic Rabbit PKD1 (100008871), domestic guinea pig Pkd1 (100732613), domestic cat PKD1 (100144606), cow PKD1 (504986), dog PKD1 (606755), chicken PKD1 (416553), naked mole-rat Pkd1 (101717562)
UniProtKB ID:
基因ID:
- Human(5310) Summary: This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]
- Mouse(18763) polycystic kidney disease 1 homolog
- Rat(24650) polycystic kidney disease 1 homolog (human)
- Domestic Rabbit(100008871) polycystic kidney disease 1 (autosomal dominant)
- domestic guinea pig(100732613) polycystic kidney disease 1 (autosomal dominant)
- domestic cat(100144606) polycystic kidney disease 1 (autosomal dominant)
- cow(504986) polycystic kidney disease 1 (autosomal dominant)
- dog(606755) polycystic kidney disease 1 (autosomal dominant)
- chicken(416553) polycystic kidney disease 1 (autosomal dominant)
- naked mole-rat(101717562) polycystic kidney disease 1 (autosomal dominant)
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Antibodies
货号
说明
物种反应性
应用
抗多囊蛋白-1抗体，克隆E4（5F4D2）, clone E4 (5F4D2), from mouse,
物种反应性
human, mouse, rat
应用
immunocytochemistry
immunohistochemistry
immunoprecipitation (IP)
western blot
immunohistochemistry
immunoprecipitation (IP)
western blot