• Gene id: 54776

Gene Summary

• Gene Symbol: PPP1R12C   Gene   UCSC   Ensembl
• Aliases: AAVS1, LENG3, MBS85, p84, p85
• Gene name: protein phosphatase 1 regulatory subunit 12C
• Alternate names: protein phosphatase 1 regulatory subunit 12C, leukocyte receptor cluster (LRC) encoded novel gene 3, leukocyte receptor cluster (LRC) member 3, myosin-binding subunit 85, protein phosphatase 1 myosin-binding subunit of 85 kDa, protein phosphatase 1 myosin-bind,
• Gene location: 19q13.42 (55117636: 55090912)     Exons: 22     NC_000019.10
• Gene summary(Entrez): The gene encodes a subunit of myosin phosphatase. The encoded protein regulates the catalytic activity of protein phosphatase 1 delta and assembly of the actin cytoskeleton. Alternatively spliced transcript variants encoding multiple isoforms have been ob

Protein Summary

• Protein general information: Q9BZL4  
  • Name: Protein phosphatase 1 regulatory subunit 12C (Protein phosphatase 1 myosin binding subunit of 85 kDa) (Protein phosphatase 1 myosin binding subunit p85)
  • Length: 782  
  • Mass: 84881
  • Tissue specificity: Ubiquitously expressed. Highly expressed in heart. {ECO
• Sequence:

  MSGEDGPAAGPGAAAAAARERRREQLRQWGARAGAEPGPGERRARTVRFERAAEFLAACAGGDLDEARLMLRAAD
  PGPGAELDPAAPPPARAVLDSTNADGISALHQACIDENLEVVRFLVEQGATVNQADNEGWTPLHVAASCGYLDIA
  RYLLSHGANIAAVNSDGDLPLDLAESDAMEGLLKAEIARRGVDVEAAKRAEEELLLHDTRCWLNGGAMPEARHPR
  TGASALHVAAAKGYIEVMRLLLQAGYDPELRDGDGWTPLHAAAHWGVEDACRLLAEHGGGMDSLTHAGQRPCDLA
  DEEVLSLLEELARKQEDLRNQKEASQSRGQEPQAPSSSKHRRSSVCRLSSREKISLQDLSKERRPGGAGGPPIQD
  EDEGEEGPTEPPPAEPRTLNGVSSPPHPSPKSPVQLEEAPFSRRFGLLKTGSSGALGPPERRTAEGAPGAGLQRS
  ASSSWLEGTSTQAKELRLARITPTPSPKLPEPSVLSEVTKPPPCLENSSPPSRIPEPESPAKPNVPTASTAPPAD
  SRDRRRSYQMPVRDEESESQRKARSRLMRQSRRSTQGVTLTDLKEAEKAAGKAPESEKPAQSLDPSRRPRVPGVE
  NSDSPAQRAEAPDGQGPGPQAAREHRKVGKEWRGPAEGEEAEPADRSQESSTLEGGPSARRQRWQRDLNPEPEPE
  SEEPDGGFRTLYAELRRENERLREALTETTLRLAQLKVELERATQRQERFAERPALLELERFERRALERKAAELE
  EELKALSDLRADNQRLKDENAALIRVISKLSK

• Structural information:
  • Interpro: IPR002110  IPR020683  IPR036770  IPR017401  IPR031205   IPR031775  
  • Prosite: PS50297 PS50088
  • STRING: ENSP00000263433
• Other Databases: GeneCards:  PPP1R12C  Malacards:  PPP1R12C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019208	phosphatase regulator activity	IBA	molecular function
GO:0004857	enzyme inhibitor activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005515	protein 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: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: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: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:0005515	protein binding	IPI	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0043086	negative regulation of catalytic activity	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04810	Regulation of actin cytoskeleton
hsa04510	Focal adhesion
hsa05205	Proteoglycans in cancer
hsa04921	Oxytocin signaling pathway
hsa04270	Vascular smooth muscle contraction

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq