1. Gene
  2. PPP6R1 - protein phosphatase 6 regulatory subunit 1 Gene

PPP6R1 - protein phosphatase 6 regulatory subunit 1 Gene

Homo sapiens

Also known as PP6R1; SAPS1; SAP190; KIAA1115

Gene ID: 22870 | Gene type: protein coding

About PPP6R1

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:55,228,218-55,259,017 (from NCBI)

This gene has 8 transcripts (splice variants), 119 orthologues and 2 paralogues. Broad expression in testis (RPKM 56.4), lymph node (RPKM 37.5) and 24 other tissues.

Summary

Protein Phosphatase regulatory subunits, such as SAPS1, modulate the activity of protein Phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS1 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]

PPP6R1 Products(1)

mRNA Protein Name
NM_014931.4 NP_055746.3 serine/threonine-protein phosphatase 6 regulatory subunit 1

PPP6R1 Protein Structure

SAPS

SAPS: SIT4 phosphatase-associated protein (128 - 373)

SAPS

SAPS: SIT4 phosphatase-associated protein (373 - 518)

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  • 881 a.a.
Protein Preferred Names Protein Names

serine/threonine-protein phosphatase 6 regulatory subunit 1

SAPS domain family, member 1

Related Diseases

Diseases Alias
Median Rhomboid Glossitis

Persistent Tuberculum Impar

Glossitis Rhomboidea Mediana

Superficial Midline Glossitis

Denture Stomatitis

Stomatitis, Denture

Denture Sore Mouth

Amyotrophic Lateral Sclerosis Type 12

Amyotrophic Lateral Sclerosis 12

Als12

Sclerosis, Lateral, Amyotrophic, Type Type 12

Melancholia
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
Mus musculus PPP6R1 MGD MGI:2442163
Felis catus PPP6R1 VGNC VGNC:64332
Bos taurus PPP6R1 VGNC VGNC:52234
Macaca mulatta PPP6R1 VGNC VGNC:76341
Rattus norvegicus PPP6R1 RGD RGD:1311409
Canis familiaris PPP6R1 VGNC VGNC:44925