PPP1R15B - protein phosphatase 1 regulatory subunit 15B Gene

Also Known as CREP; MSSGM2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84919

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
15231748 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of protein phosphorylation IMP
IMP: Inferred from mutant phenotype
26307080 GOA
Cellular Component GO Annotation Evidence References Source
part of protein phosphatase type 1 complex IDA
IDA: Inferred from direct assay
26307080 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

PPP1R15B Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PPP1R15B Q5SWA1 PPP1CC Homo sapiens P36873 26307080
Intra
PPP1R15B Q5SWA1 PPP1CA Homo sapiens P62136
Y2H
22321011
Intra
PPP1R15B Q5SWA1 TRIM23 Homo sapiens P36406 32296183
Intra
PPP1R15B Q5SWA1 TRIM23 Homo sapiens P36406 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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
Others PPP1R15B NCBI