1. Gene
  2. PPP1R18 - protein phosphatase 1 regulatory subunit 18 Gene

PPP1R18 - protein phosphatase 1 regulatory subunit 18 Gene

Homo sapiens

Also known as HKMT1098; KIAA1949

Gene ID: 170954 | Gene type: protein coding

About PPP1R18

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:30,676,389-30,688,391 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele, 121 orthologues and 1 paralogue. Broad expression in lymph node (RPKM 31.8), appendix (RPKM 27.5) and 24 other tissues.

Summary

Protein phosphatase-1 (PP1; see MIM 176875) interacts with regulatory subunits that target the Enzyme to different cellular locations and change its activity toward specific substrates. Phostensin is a regulatory subunit that targets PP1 to F-actin (see MIM 102610) Cytoskeleton (Kao et al., 2007 [PubMed 17374523]).[supplied by OMIM, Mar 2008]

PPP1R18 Products(2)

mRNA Protein Name
NM_001134870.2 NP_001128342.1 phostensin
NM_133471.4 NP_597728.1 phostensin

PPP1R18 Protein Structure

Phostensin_N

Phostensin_N: PP1-regulatory protein, Phostensin N-terminal (28 - 116)

Phostensin

Phostensin: Phostensin PP1-binding and SH3-binding region (437 - 561)

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  • 613 a.a.
Protein Preferred Names Protein Names

phostensin

protein phosphatase 1 F-actin cytoskeleton targeting subunit

Related Diseases

Diseases Alias
Deafness, Autosomal Recessive 79

DFNB79

Autosomal Recessive Nonsyndromic Deafness 79

Autosomal Recessive Deafness 79

Deafness, Autosomal Recessive, 79

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 79

Deafness, Autosomal Recessive, Type 79

Schizophrenia 4

SCZD4

Schizophrenia, Susceptibility To, 4

Schizophrenia Susceptibility Locus, Chromosome 22q11-Related

Schizophrenia Susceptibility Locus Chromosome 22-Related

Schizophrenia, Type 4

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
Felis catus PPP1R18 VGNC VGNC:102489
Macaca mulatta PPP1R18 VGNC VGNC:104421
Bos taurus PPP1R18 VGNC VGNC:33233
Mus musculus PPP1R18 MGD MGI:1923698
Rattus norvegicus PPP1R18 RGD RGD:1309543
Canis familiaris PPP1R18 VGNC VGNC:57230