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

PPP1R15B - protein phosphatase 1 regulatory subunit 15B Gene

Homo sapiens

Also known as CREP; MSSGM2

Gene ID: 84919 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA Protein Name
NM_032833.5 NP_116222.4 protein phosphatase 1 regulatory subunit 15B

PPP1R15B Protein Structure

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.
Protein Preferred Names Protein Names

protein phosphatase 1 regulatory subunit 15B

protein phosphatase 1, regulatory (inhibitor) subunit 15B

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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