2. Gene
  3. PPP1R17 - protein phosphatase 1 regulatory subunit 17 Gene

PPP1R17 - protein phosphatase 1 regulatory subunit 17 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：蛋白磷酸酶 1 调节亚基 17

种属: Homo sapiens

同用名: GSBS; C7orf16

基因 ID: 10842 | 基因类型: protein coding

关于 PPP1R17

Cytogenetic location: 7p14.3 Genomic coordinates (GRCh38): 7:31,687,215-31,708,455 (from NCBI)

This gene has 3 transcripts (splice variants), 121 orthologues and is associated with 1 phenotype. Biased expression in adrenal (RPKM 1.4), brain (RPKM 0.7) and 3 other tissues.

功能概要

由该基因编码的蛋白质主要存在于小脑浦肯野细胞中，在那里它起着蛋白磷酸酶抑制剂的作用。编码的蛋白质是 cGMP 依赖性蛋白激酶的底物。发现该基因的一个等位基因会增加对高胆固醇血症的易感性。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2010 年 7 月]

The protein encoded by this gene is found primarily in cerebellar Purkinje cells, where it functions as a protein Phosphatase Inhibitor. The encoded protein is a substrate for cGMP-dependent protein kinase. An allele of this gene was discovered that increases susceptibility to hypercholesterolemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

PPP1R17 基因产物(2)

mRNA Protein Name
NM_001145123.3 NP_001138595.1 protein phosphatase 1 regulatory subunit 17 isoform 2
NM_006658.5 NP_006649.2 protein phosphatase 1 regulatory subunit 17 isoform 1
蛋白主名 其他名称

protein phosphatase 1 regulatory subunit 17

G-substrate

关联疾病

疾病名称 别名
Hypercholesterolemia, Familial, 1

Hypercholesterolemia

FHCL1

Fhc

Fh

Hyperlipoproteinemia, Type Ii

Hyperlipoproteinemia, Type Iia

Hyper-Low-Density-Lipoproteinemia

Hypercholesterolemic Xanthomatosis, Familial

Ldl Receptor Disorder

Hypercholesterolemia, Susceptibility To

Hypercholesterolemia, Familial, Modifier Of

Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of

Ldl Cholesterol Level Qtl2

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial, Type 1

High Cholesterol

Increased Cholesterol

Low-Density-Lipoid-Type Hyperlipoproteinemia

Pure Hypercholesterolaemia

Ldl - [Low Density Lipoprotein} Hyperlipoproteinemia

Group A Hyperlipidaemia

Pure Hypercholesterinaemia

Cholesterolaemia

Essential Cholesterolaemia

Essential Hypercholesterolaemia

Group A Hyperlipemia

Increased Low Density Lipoprotein

Low-Density-Lipoprotein-Type

Low-Density-Lipoprotein-Type Hyperlipoproteinemia
Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia

Familial Hyperbetalipoproteinaemia

Familial Hypercholesteremia

Fredrickson Type Iia Hyperlipoproteinemia

Fredrickson Type Iia Lipidaemia

Hyperbetalipoproteinemia

Type Ii Hyperlipidemia

Familial Hypercholesterolæmia

Familial Hypercholesterolaemia

Fh

Hypercholesterolemia Familial

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10990 PPP1R17 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris PPP1R17 VGNC VGNC:44886
Felis catus PPP1R17 VGNC VGNC:80661
Macaca mulatta PPP1R17 VGNC VGNC:76270
Bos taurus PPP1R17 VGNC VGNC:33232
Rattus norvegicus PPP1R17 RGD RGD:628647
Mus musculus PPP1R17 MGD MGI:1333876
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