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    PKIA cAMP-dependent protein kinase inhibitor alpha [ Homo sapiens (human) ]

    Gene ID: 5569, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PKIAprovided by HGNC
    Official Full Name
    cAMP-dependent protein kinase inhibitor alphaprovided by HGNC
    Primary source
    HGNC:HGNC:9017
    See related
    Ensembl:ENSG00000171033 MIM:606059; AllianceGenome:HGNC:9017
    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
    PRKACN1
    Summary
    The protein encoded by this gene is a member of the cAMP-dependent protein kinase (PKA) inhibitor family. This protein was demonstrated to interact with and inhibit the activities of both C alpha and C beta catalytic subunits of the PKA. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in heart (RPKM 28.1), brain (RPKM 26.1) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PKIA in Genome Data Viewer
    Location:
    8q21.13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (78516340..78605267)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (78947862..79036793)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (79428575..79517502)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724874 Neighboring gene VISTA enhancer hs1422 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:78620650-78621248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:78791987-78792488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:78792489-78792988 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:78842304-78842937 Neighboring gene uncharacterized LOC105375911 Neighboring gene RNA, U6 small nuclear 1220, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:79350973-79351621 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:79357423-79358019 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27545 Neighboring gene PKIA antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:79577447-79577955 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:79577956-79578463 Neighboring gene zinc finger C2HC-type containing 1A Neighboring gene C4orf46 pseudogene 3 Neighboring gene interleukin 7

    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
    • 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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    Related articles in PubMed

    1. Inhibition of protein kinase-A by overexpression of the cloned human protein kinase inhibitor. Olsen SR, et al. Mol Endocrinol, 1991 Sep. PMID 1770951
    2. Primary-structure requirements for inhibition by the heat-stable inhibitor of the cAMP-dependent protein kinase. Scott JD, et al. Proc Natl Acad Sci U S A, 1986 Mar. PMID 3456605, Free PMC Article
    3. Exploring the methylation status of CFTR and PKIA genes as potential biomarkers for lung adenocarcinoma. Xu B, et al. Orphanet J Rare Dis, 2023 Aug 29. PMID 37644544, Free PMC Article
    4. Mutants of protein kinase A that mimic the ATP-binding site of protein kinase B (AKT). Gassel M, et al. J Mol Biol, 2003 Jun 20. PMID 12798691
    5. HIV Rev uses a conserved cellular protein export pathway for the nucleocytoplasmic transport of viral RNAs. Fritz CC, et al. Curr Biol, 1996 Jul 1. PMID 8805303

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Exploring the methylation status of CFTR and PKIA genes as potential biomarkers for lung adenocarcinoma.
      Title: Exploring the methylation status of CFTR and PKIA genes as potential biomarkers for lung adenocarcinoma.
    2. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: A genome-wide association study of bipolar disorder in Norwegian individuals, followed by replication in Icelandic sample.
    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

    EBI GWAS Catalog

    Description
    A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
    EBI GWAS Catalog
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    EBI GWAS Catalog

    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

    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 cAMP-dependent protein kinase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cAMP-dependent protein kinase inhibitor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase A catalytic subunit binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within negative regulation of cAMP-dependent protein kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cAMP/PKA signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		  
    involved_in regulation of G2/M transition of mitotic cell cycle 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 alpha
    Names
    PKI-alpha
    protein kinase (cAMP-dependent, catalytic) inhibitor alpha

    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_006823.4 → NP_006814.1  cAMP-dependent protein kinase inhibitor alpha

      See identical proteins and their annotated locations for NP_006814.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs the in the 5' UTR, as compared to variant 2. Both variants encode the same protein.
      Source sequence(s)
      BC022265, BI597731, BX419914, CR744438, DR763580
      Consensus CDS
      CCDS6222.1
      UniProtKB/Swiss-Prot
      P04541, P61925, Q6IAV2
      UniProtKB/TrEMBL
      B2R4K1
      Related
      ENSP00000379696.2, ENST00000396418.7
      Conserved Domains (1) summary
      pfam02827
      Location:2 → 70
      PKI; cAMP-dependent protein kinase inhibitor

    2. NM_181839.3 → NP_862822.1  cAMP-dependent protein kinase inhibitor alpha

      See identical proteins and their annotated locations for NP_862822.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' UTR, as compared to variant 1. Both variants encode the same protein.
      Source sequence(s)
      AC068700, DB480496
      Consensus CDS
      CCDS6222.1
      UniProtKB/Swiss-Prot
      P04541, P61925, Q6IAV2
      UniProtKB/TrEMBL
      B2R4K1
      Related
      ENSP00000336552.5, ENST00000352966.9
      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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      78516340..78605267
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013620.1 → XP_016869109.1  cAMP-dependent protein kinase inhibitor alpha isoform X1

      UniProtKB/Swiss-Prot
      P04541, P61925, Q6IAV2
      UniProtKB/TrEMBL
      B2R4K1
      Conserved Domains (1) summary
      pfam02827
      Location:2 → 70
      PKI; cAMP-dependent protein kinase inhibitor

    2. XM_047421953.1 → XP_047277909.1  cAMP-dependent protein kinase inhibitor alpha isoform X1

      UniProtKB/Swiss-Prot
      P04541, P61925, Q6IAV2

    3. XM_017013621.2 → XP_016869110.1  cAMP-dependent protein kinase inhibitor alpha isoform X1

      UniProtKB/Swiss-Prot
      P04541, P61925, Q6IAV2
      UniProtKB/TrEMBL
      B2R4K1
      Conserved Domains (1) summary
      pfam02827
      Location:2 → 70
      PKI; cAMP-dependent protein kinase inhibitor

    4. XM_017013622.2 → XP_016869111.1  cAMP-dependent protein kinase inhibitor alpha isoform X1

      UniProtKB/Swiss-Prot
      P04541, P61925, Q6IAV2
      UniProtKB/TrEMBL
      B2R4K1
      Related
      ENSP00000430887.1, ENST00000518467.1
      Conserved Domains (1) summary
      pfam02827
      Location:2 → 70
      PKI; cAMP-dependent protein kinase inhibitor

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      78947862..79036793
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360789.1 → XP_054216764.1  cAMP-dependent protein kinase inhibitor alpha isoform X1

      UniProtKB/Swiss-Prot
      P04541, P61925, Q6IAV2

    2. XM_054360791.1 → XP_054216766.1  cAMP-dependent protein kinase inhibitor alpha isoform X1

      UniProtKB/Swiss-Prot
      P04541, P61925, Q6IAV2

    3. XM_054360790.1 → XP_054216765.1  cAMP-dependent protein kinase inhibitor alpha isoform X1

      UniProtKB/Swiss-Prot
      P04541, P61925, Q6IAV2

    4. XM_054360788.1 → XP_054216763.1  cAMP-dependent protein kinase inhibitor alpha isoform X1

      UniProtKB/Swiss-Prot
      P04541, P61925, Q6IAV2

    5. XM_054360787.1 → XP_054216762.1  cAMP-dependent protein kinase inhibitor alpha isoform X1

      UniProtKB/Swiss-Prot
      P04541, P61925, Q6IAV2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P61925.2 GenPept UniProtKB/Swiss-Prot:P61925

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