2. Gene
  3. PPP1R15B - protein phosphatase 1 regulatory subunit 15B Gene

PPP1R15B - protein phosphatase 1 regulatory subunit 15B 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 15B

种属: Homo sapiens

同用名: CREP; MSSGM2

基因 ID: 84919 | 基因类型: protein coding

关于 PPP1R15B

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:204,395,826-204,411,817 (from NCBI)

This gene has 5 transcripts (splice variants), 181 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 43.3), gall bladder (RPKM 18.5) and 25 other tissues.

功能概要

该基因编码一种蛋白磷酸酶 I 相互作用蛋白，可促进真核翻译起始因子 2A 的去磷酸化，从而在细胞应激条件下调节翻译。转录的信使 RNA 包含两个上游开放阅读框 (ORF) ，它们在正常条件下抑制主要蛋白质编码 ORF 的翻译，而编码蛋白质的 ORF 在应激反应中以高水平表达。在真核翻译起始因子 2A 失活的条件下，mRNA 的连续翻译被认为会在压力恢复期间为基因的重新激活创建一个反馈回路。此外，已经表明这种蛋白质在独立于翻译的膜运输中发挥作用，并且它是红白血病细胞胞吐作用所必需的。该基因的等位基因变异与小头畸形、身材矮小和葡萄糖代谢受损有关。[RefSeq 提供，2016 年 2 月]

This gene encodes a protein Phosphatase I-interacting protein that promotes the dephosphorylation of eukaryotic translation initiation factor 2A to regulate translation under conditions of cellular stress. The transcribed messenger RNA contains two upstream open reading frames (ORFs) that repress translation of the main protein coding ORF under normal conditions, while the protein coding ORF is expressed at high levels in response to stress. Continual translation of the mRNA under conditions of eukaryotic translation initiation factor 2A inactivation is thought to create a feedback loop for reactivation of the gene during recovery from stress. In addition, it has been shown that this protein plays a role in membrane traffic that is independent of translation and that it is required for exocytosis from erythroleukemia cells. Allelic variants of this gene are associated with microcephaly, short stature, and impaired glucose metabolism. [provided by RefSeq, Feb 2016]

PPP1R15B 基因产物(1)

mRNA Protein Name
NM_032833.5 NP_116222.4 protein phosphatase 1 regulatory subunit 15B
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
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
15231748 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of protein phosphorylation IMP
IMP: 通过突变表型推断
26307080 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of protein phosphatase type 1 complex IDA
IDA: 通过直接分析推断
26307080 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

PPP1R15B 蛋白结构

CReP_N

CReP_N: eIF2-alpha phosphatase phosphorylation constitutive repressor (1 - 411)

PP1c_bdg

PP1c_bdg: Phosphatase-1 catalytic subunit binding region (412 - 699)

  • 0
  • 200
  • 400
  • 600
  • 713 a.a.
蛋白主名 其他名称

protein phosphatase 1 regulatory subunit 15B

protein phosphatase 1, regulatory (inhibitor) subunit 15B

关联疾病

疾病名称 别名
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2

MSSGM2
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Mehmo Syndrome

Mental Retardation, Epileptic Seizures, Hypogonadism And Hypogenitalism, Microcephaly, And Obesity

MEHMO

Mrxs20

Mrxs25

X-Linked Intellectual Disability-Epileptic Seizures-Hypogenitalism-Microcephaly-Obesity Syndrome

Mrxsbrk

Mental Retardation, X-Linked, Syndromic 20

Mental Retardation, X-Linked, Syndromic 25

Mental Retardation, X-Linked, Syndromic, Borck Type

Syndromic X-Linked Mental Retardation 20

Syndromic X-Linked Mental Retardation 25

Intellectual Disability, Epileptic Seizures, Hypogonadism And Hypogenitalism, Microcephaly, And Obesity

X-Linked Mehmo Syndrome
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus

Wolcott-Rallison Syndrome

Med-Iddm Syndrome

Iddm-Med Syndrome

Wolcott Rallison Syndrome

WRS

Epiphyseal Dysplasia Multiple With Early-Onset Diabetes Mellitus

Early-Onset Diabetes Mellitus With Multiple Epiphyseal Dysplasia

Multiple Epiphyseal Dysplasia With Early-Onset Diabetes Mellitus
Leukoencephalopathy With Vanishing White Matter

Cree Leukoencephalopathy

Vanishing White Matter Disease

Ovarioleukodystrophy

Vanishing White Matter Leukodystrophy

Childhood Ataxia With Central Nervous System Hypomyelinization

Cach

Cach Syndrome

Myelinosis Centralis Diffusa

VWM

Cle

Childhood Ataxia With Central Nervous System Hypomyelination

Childhood Ataxia With Diffuse Central Nervous System Hypomyelination

Cach/Vwm

Cach/Vwm Syndrome

Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter

Cree Leukoencehalopathy

Late Infantile Cach Syndrome

Juvenile Or Adult Cach Syndrome

Congenital Or Early Infantile Cach Syndrome

Leukodystrophy With Vanishing White Matter
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 (7)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-123960A Raphin1 acetate Inhibitor 99.93% 否
HY-123960 Raphin1 Inhibitor 99.75% 否
HY-18956 (E/Z)-Icerguastat Inhibitor 99.44% 否
HY-123960B (E/Z)-Raphin1 Inhibitor / 否
HY-18956B (E/Z)-Icerguastat acetate Inhibitor / 否
HY-RS10987 PPP1R15B Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-18956A (E/Z)-Icerguastat hydrochloride Inhibitor / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta PPP1R15B VGNC VGNC:76260
Rattus norvegicus PPP1R15B RGD RGD:1307944
Mus musculus PPP1R15B MGD MGI:2444211
Bos taurus PPP1R15B VGNC VGNC:33229
Felis catus PPP1R15B VGNC VGNC:64319
Canis familiaris PPP1R15B VGNC VGNC:44883
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