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  2. PPP6R1 - protein phosphatase 6 regulatory subunit 1 Gene

PPP6R1 - protein phosphatase 6 regulatory subunit 1 Gene

中文名称:蛋白磷酸酶 6 调节亚基 1

种属: Homo sapiens

同用名: PP6R1; SAPS1; SAP190; KIAA1115

基因 ID: 22870 | 基因类型: protein coding

关于 PPP6R1

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:55,228,218-55,259,017 (from NCBI)

This gene has 8 transcripts (splice variants), 119 orthologues and 2 paralogues. Broad expression in testis (RPKM 56.4), lymph node (RPKM 37.5) and 24 other tissues.

功能概要

蛋白磷酸酶调节亚基,如 SAPS1,通过限制底物特异性、募集底物和决定全酶的细胞内定位来调节蛋白磷酸酶催化亚基的活性。 SAPS1 是蛋白磷酸酶 6 催化亚基 (PPP6C; MIM 612725) 的调节亚基 (Stefansson 和 Brautigan,2006 [PubMed 16769727]) 。[OMIM 提供,2010 年 11 月]

Protein Phosphatase regulatory subunits, such as SAPS1, modulate the activity of protein Phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS1 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]

PPP6R1 基因产物(1)

mRNA Protein Name
NM_014931.4 NP_055746.3 serine/threonine-protein phosphatase 6 regulatory subunit 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
14743216 GOA
enables small GTPase binding IPI
IPI: 通过物理相互作用推断
25743393 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PPP6R1 蛋白结构

SAPS

SAPS: SIT4 phosphatase-associated protein (128 - 373)

SAPS

SAPS: SIT4 phosphatase-associated protein (373 - 518)

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  • 881 a.a.
蛋白主名 其他名称

serine/threonine-protein phosphatase 6 regulatory subunit 1

SAPS domain family, member 1

关联疾病

疾病名称 别名
Median Rhomboid Glossitis

Persistent Tuberculum Impar

Glossitis Rhomboidea Mediana

Superficial Midline Glossitis

Denture Stomatitis

Stomatitis, Denture

Denture Sore Mouth

Amyotrophic Lateral Sclerosis Type 12

Amyotrophic Lateral Sclerosis 12

Als12

Sclerosis, Lateral, Amyotrophic, Type Type 12

Melancholia
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

直系同源

种属 基因名 来源 基因 ID
Mus musculus PPP6R1 MGD MGI:2442163
Felis catus PPP6R1 VGNC VGNC:64332
Bos taurus PPP6R1 VGNC VGNC:52234
Macaca mulatta PPP6R1 VGNC VGNC:76341
Rattus norvegicus PPP6R1 RGD RGD:1311409
Canis familiaris PPP6R1 VGNC VGNC:44925