• Gene id: 4659

Gene Summary

• Gene Symbol: PPP1R12A   Gene   UCSC   Ensembl
• Aliases: GUBS, M130, MBS, MYPT1
• Gene name: protein phosphatase 1 regulatory subunit 12A
• Alternate names: protein phosphatase 1 regulatory subunit 12A, 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,
• Gene location: 12q21.2-q21.31 (79935454: 79773562)     Exons: 27     NC_000012.12
• Gene summary(Entrez): 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 triphosp
• OMIM: 602021

Protein Summary

• Protein general information: O14974  
  • Name: Protein phosphatase 1 regulatory subunit 12A (Myosin phosphatase targeting subunit 1) (Myosin phosphatase target subunit 1) (Protein phosphatase myosin binding subunit)
  • Length: 1030  
  • Mass: 115281
  • Tissue specificity: Expressed in striated muscles, specifically in type 2a fibers (at protein level). {ECO
• Sequence:

  MKMADAKQKRNEQLKRWIGSETDLEPPVVKRQKTKVKFDDGAVFLAACSSGDTDEVLKLLHRGADINYANVDGLT
  ALHQACIDDNVDMVKFLVENGANINQPDNEGWIPLHAAASCGYLDIAEFLIGQGAHVGAVNSEGDTPLDIAEEEA
  MEELLQNEVNRQGVDIEAARKEEERIMLRDARQWLNSGHINDVRHAKSGGTALHVAAAKGYTEVLKLLIQAGYDV
  NIKDYDGWTPLHAAAHWGKEEACRILVDNLCDMEMVNKVGQTAFDVADEDILGYLEELQKKQNLLHSEKRDKKSP
  LIESTANMDNNQSQKTFKNKETLIIEPEKNASRIESLEQEKVDEEEEGKKDESSCSSEEDEEDDSESEAETDKTK
  PLASVTNANTSSTQAAPVAVTTPTVSSGQATPTSPIKKFPTTATKISPKEEERKDESPATWRLGLRKTGSYGALA
  EITASKEGQKEKDTAGVTRSASSPRLSSSLDNKEKEKDSKGTRLAYVAPTIPRRLASTSDIEEKENRDSSSLRTS
  SSYTRRKWEDDLKKNSSVNEGSTYHKSCSFGRRQDDLISSSVPSTTSTPTVTSAAGLQKSLLSSTSTTTKITTGS
  SSAGTQSSTSNRLWAEDSTEKEKDSVPTAVTIPVAPTVVNAAASTTTLTTTTAGTVSSTTEVRERRRSYLTPVRD
  EESESQRKARSRQARQSRRSTQGVTLTDLQEAEKTIGRSRSTRTREQENEEKEKEEKEKQDKEKQEEKKESETSR
  EDEYKQKYSRTYDETYQRYRPVSTSSSTTPSSSLSTMSSSLYASSQLNRPNSLVGITSAYSRGITKENEREGEKR
  EEEKEGEDKSQPKSIRERRRPREKRRSTGVSFWTQDSDENEQEQQSDTEEGSNKKETQTDSISRYETSSTSAGDR
  YDSLLGRSGSYSYLEERKPYSSRLEKDDSTDFKKLYEQILAENEKLKAQLHDTNMELTDLKLQLEKATQRQERFA
  DRSLLEMEKRERRALERRISEMEEELKMLPDLKADNQRLKDENGALIRVISKLSK

• Structural information:
  • Interpro: IPR002110  IPR020683  IPR036770  IPR017401  IPR031775  
  • Prosite: PS50297 PS50088
  • PDB: 2KJY 5HUZ
  • PDBsum: 2KJY 5HUZ
  • DIP: 33186
  • STRING: ENSP00000389168
• Other Databases: GeneCards:  PPP1R12A  Malacards:  PPP1R12A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004857	enzyme inhibitor activity	IBA	molecular function
GO:0019208	phosphatase regulator activity	IBA	molecular function
GO:0035508	positive regulation of myosin-light-chain-phosphatase activity	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0030018	Z disc	IBA	cellular component
GO:0031672	A band	IBA	cellular component
GO:0071889	14-3-3 protein binding	IDA	molecular function
GO:0030155	regulation of cell adhesion	IDA	biological process
GO:0019208	phosphatase regulator activity	IDA	molecular function
GO:0005813	centrosome	IDA	cellular component
GO:0000776	kinetochore	IDA	cellular component
GO:0072357	PTW/PP1 phosphatase complex	IDA	cellular component
GO:0035507	regulation of myosin-light-chain-phosphatase activity	IDA	biological process
GO:0019208	phosphatase regulator activity	IMP	molecular function
GO:0000278	mitotic cell cycle	IMP	biological process
GO:0006470	protein dephosphorylation	IMP	biological process
GO:0030018	Z disc	ISS	cellular component
GO:0031672	A band	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0007098	centrosome cycle	IMP	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0019208	phosphatase regulator activity	IEA	molecular function
GO:0019901	protein kinase binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000086	G2/M transition of mitotic cell cycle	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046822	regulation of nucleocytoplasmic transport	IEA	biological process
GO:0035690	cellular response to drug	IEA	biological process
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0031672	A band	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0043086	negative regulation of catalytic activity	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0043292	contractile fiber	IDA	cellular component
GO:0004857	enzyme inhibitor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1903140	regulation of establishment of endothelial barrier	IMP	NOT|biological process
GO:0005925	focal adhesion	HDA	cellular component
GO:0035508	positive regulation of myosin-light-chain-phosphatase activity	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04810	Regulation of actin cytoskeleton
hsa04024	cAMP signaling pathway
hsa04510	Focal adhesion
hsa05205	Proteoglycans in cancer
hsa04022	cGMP-PKG signaling pathway
hsa04921	Oxytocin signaling pathway
hsa04270	Vascular smooth muscle contraction
hsa04611	Platelet activation

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray