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    PKIG cAMP-dependent protein kinase inhibitor gamma [ Homo sapiens (human) ]

    Gene ID: 11142, updated on 14-Nov-2024

    Summary

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    Official Symbol
    PKIGprovided by HGNC
    Official Full Name
    cAMP-dependent protein kinase inhibitor gammaprovided by HGNC
    Primary source
    HGNC:HGNC:9019
    See related
    Ensembl:ENSG00000168734 MIM:604932; AllianceGenome:HGNC:9019
    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
    PKI-gamma
    Summary
    This gene encodes a member of the protein kinase inhibitor family. Studies of a similar protein in mice suggest that this protein acts as a potent competitive cAMP-dependent protein kinase inhibitor, and is a predominant form of inhibitor in various tissues. The encoded protein may be involved in osteogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in heart (RPKM 51.1), urinary bladder (RPKM 28.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PKIG in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (44531875..44619037)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (46267641..46354809)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (43160516..43247678)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17925 Neighboring gene alpha tocopherol transfer protein like Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:43124829-43126028 Neighboring gene serine incorporator 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:43149922-43150474 Neighboring gene Sharpr-MPRA regulatory region 7879 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:43152936-43153812 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:43154689-43155564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43160105-43160605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43226219-43226966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43229479-43229980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:43237694-43238268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17933 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:43246415-43247142 Neighboring gene adenosine deaminase intronic regulatory elements Neighboring gene adenosine deaminase Neighboring gene proximal ADA Alu-mediated recombination region Neighboring gene distal ADA Alu-mediated recombination region Neighboring gene long intergenic non-protein coding RNA 1260 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:43299119-43299620 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:43299621-43300120

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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?
    1. Results show that endogenous levels of Pkig reciprocally regulate osteoblast and adipocyte differentiation and that this reciprocal regulation is mediated in part by LIF.
      Title: Protein kinase inhibitor γ reciprocally regulates osteoblast and adipocyte differentiation by downregulating leukemia inhibitory factor.
    2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    4. These results indicate that the downregulation of PKIgamma may be prerequisite for the PKA activation during the osteoblastic differentiation of precursor cells.
      Title: Downregulation of cAMP-dependent protein kinase inhibitor gamma is required for BMP-2-induced osteoblastic differentiation.
    5. Functional studies of the mouse homolog
      Title: Characterization of PKIgamma, a novel isoform of the protein kinase inhibitor of cAMP-dependent protein kinase.
    6. Functional studies of the mouse homolog
      Title: Vascular endothelial cells express isoforms of protein kinase A inhibitor.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC126458, MGC126459

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cAMP-dependent protein kinase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of protein import into nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    cAMP-dependent protein kinase inhibitor gamma
    Names
    protein kinase (cAMP-dependent, catalytic) inhibitor gamma

    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)

    1. NM_001281444.2 → NP_001268373.1  cAMP-dependent protein kinase inhibitor gamma

      See identical proteins and their annotated locations for NP_001268373.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the longest transcript. Variants 1-5 encode the same protein.
      Source sequence(s)
      AI140360, BG388302, BI461377, CD244921, CN354542
      Consensus CDS
      CCDS13334.1
      UniProtKB/Swiss-Prot
      Q9Y2B9
      UniProtKB/TrEMBL
      Q549H9
      Related
      ENSP00000361980.1, ENST00000372889.5
      Conserved Domains (1) summary
      pfam02827
      Location:2 → 70
      PKI; cAMP-dependent protein kinase inhibitor

    2. NM_001281445.2 → NP_001268374.1  cAMP-dependent protein kinase inhibitor gamma

      See identical proteins and their annotated locations for NP_001268374.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 4. Variants 1-5 encode the same protein.
      Source sequence(s)
      AA463287, BQ010165, DN994035
      Consensus CDS
      CCDS13334.1
      UniProtKB/Swiss-Prot
      Q9Y2B9
      UniProtKB/TrEMBL
      Q549H9
      Related
      ENSP00000361977.1, ENST00000372886.6
      Conserved Domains (1) summary
      pfam02827
      Location:2 → 70
      PKI; cAMP-dependent protein kinase inhibitor

    3. NM_007066.5 → NP_008997.1  cAMP-dependent protein kinase inhibitor gamma

      See identical proteins and their annotated locations for NP_008997.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 4. Variants 1-5 encode the same protein.
      Source sequence(s)
      BC104257, Z97053
      Consensus CDS
      CCDS13334.1
      UniProtKB/Swiss-Prot
      Q9Y2B9
      UniProtKB/TrEMBL
      Q549H9
      Related
      ENSP00000361985.3, ENST00000372894.7
      Conserved Domains (1) summary
      pfam02827
      Location:2 → 70
      PKI; cAMP-dependent protein kinase inhibitor

    4. NM_181804.3 → NP_861520.1  cAMP-dependent protein kinase inhibitor gamma

      See identical proteins and their annotated locations for NP_861520.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 4. Variants 1-5 encode the same protein.
      Source sequence(s)
      AI140360, CD244921, CN354542
      Consensus CDS
      CCDS13334.1
      UniProtKB/Swiss-Prot
      Q9Y2B9
      UniProtKB/TrEMBL
      Q549H9
      Related
      ENSP00000361983.3, ENST00000372892.7
      Conserved Domains (1) summary
      pfam02827
      Location:2 → 70
      PKI; cAMP-dependent protein kinase inhibitor

    5. NM_181805.3 → NP_861521.1  cAMP-dependent protein kinase inhibitor gamma

      See identical proteins and their annotated locations for NP_861521.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR, compared to variant 4. Variants 1-5 encode the same protein.
      Source sequence(s)
      BG717090, BQ010165, CN354542
      Consensus CDS
      CCDS13334.1
      UniProtKB/Swiss-Prot
      Q9Y2B9
      UniProtKB/TrEMBL
      Q549H9
      Related
      ENSP00000361981.3, ENST00000372891.7
      Conserved Domains (1) summary
      pfam02827
      Location:2 → 70
      PKI; cAMP-dependent protein kinase inhibitor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      44531875..44619037
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439851.1 → XP_047295807.1  cAMP-dependent protein kinase inhibitor gamma isoform X1

      UniProtKB/Swiss-Prot
      Q9Y2B9
      UniProtKB/TrEMBL
      Q549H9

    2. XM_047439850.1 → XP_047295806.1  cAMP-dependent protein kinase inhibitor gamma isoform X1

      UniProtKB/Swiss-Prot
      Q9Y2B9
      UniProtKB/TrEMBL
      Q549H9

    3. XM_017027615.2 → XP_016883104.1  cAMP-dependent protein kinase inhibitor gamma isoform X1

      UniProtKB/Swiss-Prot
      Q9Y2B9
      UniProtKB/TrEMBL
      Q549H9
      Conserved Domains (1) summary
      pfam02827
      Location:2 → 70
      PKI; cAMP-dependent protein kinase inhibitor

    4. XM_047439849.1 → XP_047295805.1  cAMP-dependent protein kinase inhibitor gamma isoform X1

      UniProtKB/Swiss-Prot
      Q9Y2B9
      UniProtKB/TrEMBL
      Q549H9

    5. XM_017027616.2 → XP_016883105.1  cAMP-dependent protein kinase inhibitor gamma isoform X1

      UniProtKB/Swiss-Prot
      Q9Y2B9
      UniProtKB/TrEMBL
      Q549H9
      Conserved Domains (1) summary
      pfam02827
      Location:2 → 70
      PKI; cAMP-dependent protein kinase inhibitor

    6. XM_047439852.1 → XP_047295808.1  cAMP-dependent protein kinase inhibitor gamma isoform X1

      UniProtKB/Swiss-Prot
      Q9Y2B9
      UniProtKB/TrEMBL
      Q549H9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      46267641..46354809
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322885.1 → XP_054178860.1  cAMP-dependent protein kinase inhibitor gamma isoform X1

      UniProtKB/Swiss-Prot
      Q9Y2B9
      UniProtKB/TrEMBL
      Q549H9

    2. XM_054322883.1 → XP_054178858.1  cAMP-dependent protein kinase inhibitor gamma isoform X1

      UniProtKB/Swiss-Prot
      Q9Y2B9
      UniProtKB/TrEMBL
      Q549H9

    3. XM_054322884.1 → XP_054178859.1  cAMP-dependent protein kinase inhibitor gamma isoform X1

      UniProtKB/Swiss-Prot
      Q9Y2B9
      UniProtKB/TrEMBL
      Q549H9

    4. XM_054322881.1 → XP_054178856.1  cAMP-dependent protein kinase inhibitor gamma isoform X1

      UniProtKB/Swiss-Prot
      Q9Y2B9
      UniProtKB/TrEMBL
      Q549H9

    5. XM_054322882.1 → XP_054178857.1  cAMP-dependent protein kinase inhibitor gamma isoform X1

      UniProtKB/Swiss-Prot
      Q9Y2B9
      UniProtKB/TrEMBL
      Q549H9

    6. XM_054322886.1 → XP_054178861.1  cAMP-dependent protein kinase inhibitor gamma isoform X1

      UniProtKB/Swiss-Prot
      Q9Y2B9
      UniProtKB/TrEMBL
      Q549H9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2B9.1 GenPept UniProtKB/Swiss-Prot:Q9Y2B9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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