1. Gene
  2. PPP1R8 - protein phosphatase 1 regulatory subunit 8 Gene

PPP1R8 - protein phosphatase 1 regulatory subunit 8 Gene

中文名称:蛋白磷酸酶 1 调节亚基 8

种属: Homo sapiens

同用名: ARD1; ARD-1; NIPP1; NIPP-1; PRO2047

基因 ID: 5511 | 基因类型: protein coding

关于 PPP1R8

Cytogenetic location: 1p35.3 Genomic coordinates (GRCh38): 1:27,830,782-27,851,676 (from NCBI)

This gene has 5 transcripts (splice variants), 242 orthologues and 2 paralogues. Ubiquitous expression in endometrium (RPKM 13.4), lymph node (RPKM 13.2) and 25 other tissues.

功能概要

该基因通过可变剪接编码三种不同的亚型。该基因编码的两种蛋白质亚型是 1 型丝氨酸/苏氨酸蛋白磷酸酶的特异性抑制剂,可以结合但不能切割 RNA。第三种蛋白质亚型缺乏磷酸酶抑制功能,但它是一种单链内切核糖核酸酶,可与大肠杆菌的 RNase E 相媲美。这种亚型需要镁来发挥其功能,并在富含 A+U 的 RNA 区域切割特定位点。[RefSeq 提供,2008 年 7 月]

This gene, through alternative splicing, encodes three different isoforms. Two of the protein isoforms encoded by this gene are specific inhibitors of type 1 serine/threonine protein phosphatases and can bind but not cleave RNA. The third protein isoform lacks the Phosphatase inhibitory function but is a single-strand endoribonuclease comparable to RNase E of E. coli. This isoform requires magnesium for its function and cleaves specific sites in A+U-rich regions of RNA. [provided by RefSeq, Jul 2008]

PPP1R8 基因产物(3)

mRNA Protein Name
NM_002713.4 NP_002704.1 nuclear inhibitor of protein phosphatase 1 isoform gamma
NM_014110.5 NP_054829.2 nuclear inhibitor of protein phosphatase 1 isoform alpha
NM_138558.3 NP_612568.1 nuclear inhibitor of protein phosphatase 1 isoform beta/delta
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables molecular function inhibitor activity EXP
EXP: 通过实验结果推断
22940584 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11739654 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nuclear speck IDA
IDA: 通过直接分析推断
11739654 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

PPP1R8 蛋白结构

FHA

FHA: FHA domain (49 - 118)

  • 0
  • 100
  • 200
  • 300
  • 351 a.a.
蛋白主名 其他名称

nuclear inhibitor of protein phosphatase 1

RNase E

关联疾病

疾病名称 别名
Xia-Gibbs Syndrome

Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome

XIGIS

Mrd25

Ahdc1-Related Intellectual Disability - Obstructive Sleep Apnea - Mild Dysmorphism Syndrome

Mental Retardation, Autosomal Dominant 25, Formerly

Mrd25, Formerly

Autosomal Dominant Mental Retardation 25

Autosomal Dominant Intellectual Disability 25

Xgs

Bubonic Plague

Black Death

Plague, Bubonic

Plague, Septicemic

Pestis Bubonica

Arthrogryposis, Distal, Type 1a

Distal Arthrogryposis Type 1

Digitotalar Dysmorphism

DA1A

Da1

Amcd1

Arthrogryposis, Distal, Type 2b4

Distal Arthrogryposis Type 1a

Arthrogryposis, Distal, Type 1

Arthrogryposis Multiplex Congenita Distal Type 1

Arthrogryposis Multiplex Congenita, Distal Type 1

Arthrogryposis Multiplex Congenita, Distal, Type I

Distal Arthrogryposis Type 1b

Arthrogryposis, Distal, 1a

Amc

Arthrogryposis Multiplex Congenita

Arthrogryposis, Distal, 2b4

DA2B4

Arthrogryposis Multiplex Congenita, Distal, Type 1

Arthrogryposis

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
Rattus norvegicus PPP1R8 RGD RGD:1306280
Mus musculus PPP1R8 MGD MGI:2140494
Felis catus PPP1R8 VGNC VGNC:69005
Bos taurus PPP1R8 VGNC VGNC:33249