Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4659
Gene name Gene Name - the full gene name approved by the HGNC.
Protein phosphatase 1 regulatory subunit 12A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PPP1R12A
Synonyms (NCBI Gene) Gene synonyms aliases
GUBS, M130, MBS, MYPT1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
GUBS
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q21.2-q21.31
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1356631664 G>A,T Pathogenic Synonymous variant, stop gained, coding sequence variant
rs1592629980 GA>- Pathogenic Stop gained, coding sequence variant
rs1592661703 T>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT024772 hsa-miR-215-5p Microarray 19074876
MIRT026571 hsa-miR-192-5p Microarray 19074876
MIRT027917 hsa-miR-96-5p Sequencing 20371350
MIRT028611 hsa-miR-30a-5p Proteomics 18668040
MIRT047894 hsa-miR-30c-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle TAS
GO:0000278 Process Mitotic cell cycle IMP 18477460
GO:0000776 Component Kinetochore IDA 18477460
GO:0004857 Function Enzyme inhibitor activity IBA 21873635
GO:0004857 Function Enzyme inhibitor activity IDA 19245366
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602021 7618 ENSG00000058272
Protein
UniProt ID O14974
Protein name Protein phosphatase 1 regulatory subunit 12A (Myosin phosphatase-targeting subunit 1) (Myosin phosphatase target subunit 1) (Protein phosphatase myosin-binding subunit)
Protein function Key regulator of protein phosphatase 1C (PPP1C). Mediates binding to myosin. As part of the PPP1C complex, involved in dephosphorylation of PLK1. Capable of inhibiting HIF1AN-dependent suppression of HIF1A activity. {ECO:0000269|PubMed:18477460,
PDB 2KJY , 5HUZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00023 Ank 72 104 Ankyrin repeat Repeat
PF00023 Ank 105 137 Ankyrin repeat Repeat
PF00023 Ank 198 230 Ankyrin repeat Repeat
PF00023 Ank 231 263 Ankyrin repeat Repeat
PF15898 PRKG1_interact 931 1030 cGMP-dependent protein kinase interacting domain Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Expressed in striated muscles, specifically in type 2a fibers (at protein level). {ECO:0000269|PubMed:20634291}.
Sequence
MKMADAKQKRNEQLKRWIGSETDLEPPVVKRQKTKVKFDDGAVFLAACSSGDTDEVLKLL
HRGADINYANVDGLTALHQACIDDNVDMVKFLVENGANINQPDNEGWIPLHAAASCGYLD
IAEFLIGQGAHVGAVNS
EGDTPLDIAEEEAMEELLQNEVNRQGVDIEAARKEEERIMLRD
ARQWLNSGHINDVRHAKSGGTALHVAAAKGYTEVLKLLIQAGYDVNIKDYDGWTPLHAAA
HWGKEEACRILVDNLCDMEMVNK
VGQTAFDVADEDILGYLEELQKKQNLLHSEKRDKKSP
LIESTANMDNNQSQKTFKNKETLIIEPEKNASRIESLEQEKVDEEEEGKKDESSCSSEED
EEDDSESEAETDKTKPLASVTNANTSSTQAAPVAVTTPTVSSGQATPTSPIKKFPTTATK
ISPKEEERKDESPATWRLGLRKTGSYGALAEITASKEGQKEKDTAGVTRSASSPRLSSSL
DNKEKEKDSKGTRLAYVAPTIPRRLASTSDIEEKENRDSSSLRTSSSYTRRKWEDDLKKN
SSVNEGSTYHKSCSFGRRQDDLISSSVPSTTSTPTVTSAAGLQKSLLSSTSTTTKITTGS
SSAGTQSSTSNRLWAEDSTEKEKDSVPTAVTIPVAPTVVNAAASTTTLTTTTAGTVSSTT
EVRERRRSYLTPVRDEESESQRKARSRQARQSRRSTQGVTLTDLQEAEKTIGRSRSTRTR
EQENEEKEKEEKEKQDKEKQEEKKESETSREDEYKQKYSRTYDETYQRYRPVSTSSSTTP
SSSLSTMSSSLYASSQLNRPNSLVGITSAYSRGITKENEREGEKREEEKEGEDKSQPKSI
RERRRPREKRRSTGVSFWTQDSDENEQEQQSDTEEGSNKKETQTDSISRYETSSTSAGDR
YDSLLGRSGSYSYLEERKPYSSRLEKDDSTDFKKLYEQILAENEKLKAQLHDTNMELTDL
KLQLEKATQRQERFADRSLLEMEKRERRALERRISEMEEELKMLPDLKADNQRLKDENGA
LIRVISKLSK
Sequence length 1030
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  cGMP-PKG signaling pathway
cAMP signaling pathway
Vascular smooth muscle contraction
Focal adhesion
Platelet activation
Regulation of actin cytoskeleton
Oxytocin signaling pathway
Proteoglycans in cancer
  Regulation of PLK1 Activity at G2/M Transition
RHO GTPases activate PKNs
RHO GTPases activate PAKs
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Holoprosencephaly Holoprosencephaly rs121917878, rs121917879, rs121917880, rs1572624159, rs137853021, rs397515364, rs397515365, rs2147483647, rs121909067, rs121909070, rs199476093, rs28936675, rs104894044, rs104894045, rs104894040
View all (76 more)
31883643
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
31883643
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 29183848, 37957190
Carcinoma Hepatocellular Associate 28074910
Carcinoma Non Small Cell Lung Stimulate 36053953
Carcinoma Renal Cell Associate 30946934
Carcinoma Renal Cell Inhibit 36106411
Colorectal Neoplasms Associate 26113782
Convulsions benign familial neonatal dominant form Associate 39334371
Diabetes Mellitus Associate 29955616
Disorders of Sex Development Associate 31883643
Endometrial Neoplasms Associate 17451460, 34180758