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PPP1R12A protein phosphatase 1 regulatory subunit 12A [ Homo sapiens (human) ]

Gene ID: 4659, updated on 22-Aug-2020

Summary

Official Symbol
PPP1R12Aprovided by HGNC
Official Full Name
protein phosphatase 1 regulatory subunit 12Aprovided by HGNC
Primary source
HGNC:HGNC:7618
See related
Ensembl:ENSG00000058272 MIM:602021
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MBS; GUBS; M130; MYPT1
Summary
Myosin phosphatase target subunit 1, which is also called the myosin-binding subunit of myosin phosphatase, is one of the subunits of myosin phosphatase. Myosin phosphatase regulates the interaction of actin and myosin downstream of the guanosine triphosphatase Rho. The small guanosine triphosphatase Rho is implicated in myosin light chain (MLC) phosphorylation, which results in contraction of smooth muscle and interaction of actin and myosin in nonmuscle cells. The guanosine triphosphate (GTP)-bound, active form of RhoA (GTP.RhoA) specifically interacted with the myosin-binding subunit (MBS) of myosin phosphatase, which regulates the extent of phosphorylation of MLC. Rho-associated kinase (Rho-kinase), which is activated by GTP. RhoA, phosphorylated MBS and consequently inactivated myosin phosphatase. Overexpression of RhoA or activated RhoA in NIH 3T3 cells increased phosphorylation of MBS and MLC. Thus, Rho appears to inhibit myosin phosphatase through the action of Rho-kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]
Expression
Ubiquitous expression in endometrium (RPKM 18.7), esophagus (RPKM 16.4) and 24 other tissues See more
Orthologs

Genomic context

See PPP1R12A in Genome Data Viewer
Location:
12q21.2-q21.31
Exon count:
27
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (79773563..79935460, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (80167343..80329235, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene NOP56 ribonucleoprotein pseudogene 3 Neighboring gene pro-apoptotic WT1 regulator Neighboring gene uncharacterized LOC105369864 Neighboring gene RNA, 5S ribosomal pseudogene 363 Neighboring gene Sharpr-MPRA regulatory region 5962 Neighboring gene PPP1R12A antisense RNA 1 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 20 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 20

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
MedGen: CN263373 OMIM: 618820 GeneReviews: Not available
not available
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Treatment of human brain endothelial cells with Tat markedly elevate GTP-RhoA levels and the potential downstream effectors, such as myosin phosphatase target subunit 1 and myosin light chain PubMed
nucleocapsid gag HIV-1 NC is identified to have a physical interaction with protein phosphatase 1, regulatory subunit 12A (PPP1R12A; YMPT1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC133042

Gene Ontology Provided by GOA

Function Evidence Code Pubs
14-3-3 protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enzyme inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enzyme inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatase regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatase regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatase regulator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
cellular response to drug IEA
Inferred from Electronic Annotation
more info
 
centrosome cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of catalytic activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of myosin-light-chain-phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of myosin-light-chain-phosphatase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
protein dephosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
NOT regulation of establishment of endothelial barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of myosin-light-chain-phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of nucleocytoplasmic transport IEA
Inferred from Electronic Annotation
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
A band IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
A band ISS
Inferred from Sequence or Structural Similarity
more info
 
PTW/PP1 phosphatase complex IDA
Inferred from Direct Assay
more info
PubMed 
Z disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Z disc ISS
Inferred from Sequence or Structural Similarity
more info
 
actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
contractile fiber IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
focal adhesion HDA PubMed 
kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
protein phosphatase 1 regulatory subunit 12A
Names
myosin binding subunit
myosin phosphatase, target subunit 1
myosin phosphatase-targeting subunit 1
protein phosphatase 1, regulatory (inhibitor) subunit 12A
protein phosphatase myosin-binding subunit

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001143885.2NP_001137357.1  protein phosphatase 1 regulatory subunit 12A isoform a

    See identical proteins and their annotated locations for NP_001137357.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode isoform a.
    Source sequence(s)
    AC073569, AC074270, AF458589, AK314193, BC111752
    Consensus CDS
    CCDS44947.1
    UniProtKB/Swiss-Prot
    O14974
    UniProtKB/TrEMBL
    B2RAH5
    Related
    ENSP00000261207.5, ENST00000261207.9
    Conserved Domains (5) summary
    cd00204
    Location:67252
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:47136
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:199252
    Ank_4; Ankyrin repeats (many copies)
    pfam15898
    Location:9311029
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
    sd00045
    Location:72103
    ANK; ANK repeat [structural motif]
  2. NM_001143886.2NP_001137358.1  protein phosphatase 1 regulatory subunit 12A isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AC073569, AK302692, BC111752
    Consensus CDS
    CCDS44948.1
    UniProtKB/Swiss-Prot
    O14974
    Related
    ENSP00000449514.1, ENST00000546369.5
    Conserved Domains (5) summary
    cd00204
    Location:13165
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam13637
    Location:112165
    Ank_4; Ankyrin repeats (many copies)
    pfam13857
    Location:558
    Ank_5; Ankyrin repeats (many copies)
    pfam15898
    Location:844942
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
    sd00045
    Location:1849
    ANK; ANK repeat [structural motif]
  3. NM_001244990.2NP_001231919.1  protein phosphatase 1 regulatory subunit 12A isoform c

    See identical proteins and their annotated locations for NP_001231919.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks an exon in the coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
    Source sequence(s)
    AC018476, AC073569, AC074270
    Consensus CDS
    CCDS58260.1
    UniProtKB/Swiss-Prot
    O14974
    Related
    ENSP00000416769.2, ENST00000437004.6
    Conserved Domains (5) summary
    cd00204
    Location:67252
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:47136
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:199252
    Ank_4; Ankyrin repeats (many copies)
    pfam15898
    Location:933994
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
    sd00045
    Location:72103
    ANK; ANK repeat [structural motif]
  4. NM_001244992.1NP_001231921.1  protein phosphatase 1 regulatory subunit 12A isoform d

    See identical proteins and their annotated locations for NP_001231921.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an exon in the coding region, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
    Source sequence(s)
    AC018476, AC073569, AC074270
    Consensus CDS
    CCDS58259.1
    UniProtKB/Swiss-Prot
    O14974
    Related
    ENSP00000446855.1, ENST00000550107.5
    Conserved Domains (5) summary
    cd00204
    Location:67252
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:47136
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:199252
    Ank_4; Ankyrin repeats (many copies)
    pfam15898
    Location:875973
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
    sd00045
    Location:72103
    ANK; ANK repeat [structural motif]
  5. NM_002480.3NP_002471.1  protein phosphatase 1 regulatory subunit 12A isoform a

    See identical proteins and their annotated locations for NP_002471.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode isoform a.
    Source sequence(s)
    AC073569, AK314193, BC111752, DC350703
    Consensus CDS
    CCDS44947.1
    UniProtKB/Swiss-Prot
    O14974
    UniProtKB/TrEMBL
    B2RAH5
    Related
    ENSP00000389168.2, ENST00000450142.7
    Conserved Domains (5) summary
    cd00204
    Location:67252
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:47136
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:199252
    Ank_4; Ankyrin repeats (many copies)
    pfam15898
    Location:9311029
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
    sd00045
    Location:72103
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    79773563..79935460 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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