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

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; AllianceGenome:HGNC:7618
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: mouse all
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Genomic context

Location:: 12q21.2-q21.31

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (79773563..79935460, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (79752233..79914115, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (80167343..80329240, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Functional analysis of a novel nonsense PPP1R12A variant in a Chinese family with infantile epilepsy.
Title: Functional analysis of a novel nonsense PPP1R12A variant in a Chinese family with infantile epilepsy.
Differential expression of PPP1R12A transcripts, including those harbouring alternatively spliced micro-exons, in placentae from complicated pregnancies.
Title: Differential expression of PPP1R12A transcripts, including those harbouring alternatively spliced micro-exons, in placentae from complicated pregnancies.
PPP1R12A is a recycling endosomal phosphatase that facilitates YAP activation.
Title: PPP1R12A is a recycling endosomal phosphatase that facilitates YAP activation.
Persistent Mullerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase.
Title: Persistent Müllerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase.
MYPT1 inhibits the metastasis of renal clear cell carcinoma via the MAPK8/N-cadherin pathway.
Title: MYPT1 inhibits the metastasis of renal clear cell carcinoma via the MAPK8/N-cadherin pathway.
Complex Transcriptional Profiles of the PPP1R12A Gene in Cells of the Circulatory System as Revealed by In Silico Analysis and Reverse Transcription PCR.
Title: Complex Transcriptional Profiles of the PPP1R12A Gene in Cells of the Circulatory System as Revealed by In Silico Analysis and Reverse Transcription PCR.
Tissue-specific expression of myosin phosphatase subunits and isoforms in smooth muscle of mice and humans.
Title: Tissue-specific expression of myosin phosphatase subunits and isoforms in smooth muscle of mice and humans.
Novel circular RNA circSOBP governs amoeboid migration through the regulation of the miR-141-3p/MYPT1/p-MLC2 axis in prostate cancer.
Title: Novel circular RNA circSOBP governs amoeboid migration through the regulation of the miR-141-3p/MYPT1/p-MLC2 axis in prostate cancer.
CircPPP1R12A promotes the progression of colon cancer through regulating CTNNB1 via sponging miR-375.
Title: CircPPP1R12A promotes the progression of colon cancer through regulating CTNNB1 via sponging miR-375.
Haplotype-based, case-control study of myosin phosphatase target subunit 1 (PPP1R12A) gene and hypertensive disorders of pregnancy.
Title: Haplotype-based, case-control study of myosin phosphatase target subunit 1 (PPP1R12A) gene and hypertensive disorders of pregnancy.

Submit: New GeneRIF Correction See all GeneRIFs (66)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Genitourinary and/or brain malformation syndrome MedGen: C5394158 OMIM: 618820 GeneReviews: PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome	Compare labs

EBI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A009E41 (e-PCR)
- UniSTS:7482

RH46293 (e-PCR)
- UniSTS:49993

G32488 (e-PCR)
- UniSTS:117073

PPP1R12A_1515 (e-PCR)
- UniSTS:277601

PPP1R12A_v511 (e-PCR)
- UniSTS:277601

RH91540 (e-PCR)
- UniSTS:85896

RH44805 (e-PCR)
- UniSTS:60561

SHGC-56584 (e-PCR)
- UniSTS:38804

RH11236 (e-PCR)
- UniSTS:20421

RH70109 (e-PCR)
- UniSTS:23268

SHGC-84164 (e-PCR)
- UniSTS:104678

SHGC-84179 (e-PCR)
- UniSTS:104679

WI-16785 (e-PCR)
- UniSTS:76267

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 14-3-3 protein binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables enzyme inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables myosin phosphatase regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatase regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatase regulator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in centrosome cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of catalytic activity	IDA Inferred from Direct Assay more info	PubMed
involved_in neuron projection morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in protein dephosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell adhesion	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in regulation of establishment of endothelial barrier	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of nucleocytoplasmic transport	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in A band	IBA Inferred from Biological aspect of Ancestor more info
located_in A band	ISS Inferred from Sequence or Structural Similarity more info
part_of PTW/PP1 phosphatase complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info
located_in Z disc	ISS Inferred from Sequence or Structural Similarity more info
located_in actin cytoskeleton	IDA Inferred from Direct Assay more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in contractile muscle fiber	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in focal adhesion	HDA more info	PubMed
located_in kinetochore	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in stress fiber	IEA Inferred from Electronic Annotation more info

General protein information

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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)

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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)

NM_001143885.2 → NP_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

B4DZ09, F8VWB4, O14974, Q2NKL4, Q569H0, Q86WU3, Q8NFR6, Q9BYH0

UniProtKB/TrEMBL

B2RAH5

Related

ENSP00000261207.5, ENST00000261207.9

Conserved Domains (5) summary

cd00204
Location:67 → 252

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:47 → 136

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:199 → 252

Ank_4; Ankyrin repeats (many copies)

pfam15898
Location:931 → 1029

PRKG1_interact; cGMP-dependent protein kinase interacting domain

sd00045
Location:72 → 103

ANK; ANK repeat [structural motif]
NM_001143886.2 → NP_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/TrEMBL

B2RAH5

Related

ENSP00000449514.1, ENST00000546369.5

Conserved Domains (5) summary

cd00204
Location:13 → 165

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:112 → 165

Ank_4; Ankyrin repeats (many copies)

pfam13857
Location:5 → 58

Ank_5; Ankyrin repeats (many copies)

pfam15898
Location:844 → 942

PRKG1_interact; cGMP-dependent protein kinase interacting domain

sd00045
Location:18 → 49

ANK; ANK repeat [structural motif]
NM_001244990.2 → NP_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/TrEMBL

B2RAH5

Related

ENSP00000416769.2, ENST00000437004.6

Conserved Domains (5) summary

cd00204
Location:67 → 252

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:47 → 136

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:199 → 252

Ank_4; Ankyrin repeats (many copies)

pfam15898
Location:933 → 994

PRKG1_interact; cGMP-dependent protein kinase interacting domain

sd00045
Location:72 → 103

ANK; ANK repeat [structural motif]
NM_001244992.1 → NP_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/TrEMBL

B2RAH5

Related

ENSP00000446855.1, ENST00000550107.5

Conserved Domains (5) summary

cd00204
Location:67 → 252

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:47 → 136

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:199 → 252

Ank_4; Ankyrin repeats (many copies)

pfam15898
Location:875 → 973

PRKG1_interact; cGMP-dependent protein kinase interacting domain

sd00045
Location:72 → 103

ANK; ANK repeat [structural motif]
NM_002480.3 → NP_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

B4DZ09, F8VWB4, O14974, Q2NKL4, Q569H0, Q86WU3, Q8NFR6, Q9BYH0

UniProtKB/TrEMBL

B2RAH5

Related

ENSP00000389168.2, ENST00000450142.7

Conserved Domains (5) summary

cd00204
Location:67 → 252

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:47 → 136

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:199 → 252

Ank_4; Ankyrin repeats (many copies)

pfam15898
Location:931 → 1029

PRKG1_interact; cGMP-dependent protein kinase interacting domain

sd00045
Location:72 → 103

ANK; ANK repeat [structural motif]