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    PPP1R14C protein phosphatase 1 regulatory inhibitor subunit 14C [ Homo sapiens (human) ]

    Gene ID: 81706, updated on 17-Jun-2024

    Summary

    Official Symbol
    PPP1R14Cprovided by HGNC
    Official Full Name
    protein phosphatase 1 regulatory inhibitor subunit 14Cprovided by HGNC
    Primary source
    HGNC:HGNC:14952
    See related
    Ensembl:ENSG00000198729 MIM:613242; AllianceGenome:HGNC:14952
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KEPI; NY-BR-81; CPI17-like
    Summary
    The degree of protein phosphorylation is regulated by a balance of protein kinase and phosphatase activities. Protein phosphatase-1 (PP1; see MIM 176875) is a signal-transducing phosphatase that influences neuronal activity, protein synthesis, metabolism, muscle contraction, and cell division. PPP1R14C is an inhibitor of PP1 (Liu et al., 2002 [PubMed 11812771]).[supplied by OMIM, Feb 2010]
    Expression
    Biased expression in thyroid (RPKM 22.2), heart (RPKM 17.2) and 9 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PPP1R14C in Genome Data Viewer
    Location:
    6q25.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (150143044..150250392)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (151342372..151450366)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (150464180..150571528)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25271 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25272 Neighboring gene uncharacterized LOC124901428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:150391279-150392146 Neighboring gene UL16 binding protein 3 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17676 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:150490206-150491405 Neighboring gene VISTA enhancer hs1922 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:150510887-150511092 Neighboring gene Sharpr-MPRA regulatory region 9319 Neighboring gene NANOG hESC enhancer GRCh37_chr6:150545903-150546404 Neighboring gene NANOG hESC enhancer GRCh37_chr6:150546582-150547564 Neighboring gene Sharpr-MPRA regulatory region 12981 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:150585269-150585769 Neighboring gene uncharacterized LOC105378054 Neighboring gene CRISPRi-validated cis-regulatory element chr6.5240 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:150594726-150595226 Neighboring gene RNA, U4 small nuclear 7, pseudogene

    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

    EBI GWAS Catalog

    Description
    Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
    EBI GWAS Catalog
    Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein serine/threonine phosphatase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in regulation of phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein phosphatase 1 regulatory subunit 14C
    Names
    PKC-potentiated PP1 inhibitory protein
    kinase C-enhanced PP1 inhibitor
    kinase-enhanced PP1 inhibitor
    serologically defined breast cancer antigen NY-BR-81

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_030949.3NP_112211.1  protein phosphatase 1 regulatory subunit 14C

      See identical proteins and their annotated locations for NP_112211.1

      Status: VALIDATED

      Source sequence(s)
      AF308297, AK096272, AL096708, AL355497, CB994599
      Consensus CDS
      CCDS5226.1
      UniProtKB/Swiss-Prot
      Q5VY83, Q8TAE6, Q96BB1, Q9H277
      Related
      ENSP00000355260.4, ENST00000361131.5
      Conserved Domains (1) summary
      pfam05361
      Location:71165
      PP1_inhibitor; PKC-activated protein phosphatase-1 inhibitor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      150143044..150250392
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      151342372..151450366
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)