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

    Gene ID: 5569, updated on 3-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    General protein information

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

    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_006823.4NP_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:270
      PKI; cAMP-dependent protein kinase inhibitor
    2. NM_181839.3NP_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:270
      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_017013620.1XP_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:270
      PKI; cAMP-dependent protein kinase inhibitor
    2. XM_047421953.1XP_047277909.1  cAMP-dependent protein kinase inhibitor alpha isoform X1

      UniProtKB/Swiss-Prot
      P04541, P61925, Q6IAV2
      UniProtKB/TrEMBL
      B2R4K1
    3. XM_017013621.2XP_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:270
      PKI; cAMP-dependent protein kinase inhibitor
    4. XM_017013622.2XP_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:270
      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_054360789.1XP_054216764.1  cAMP-dependent protein kinase inhibitor alpha isoform X1

      UniProtKB/Swiss-Prot
      P04541, P61925, Q6IAV2
      UniProtKB/TrEMBL
      B2R4K1
    2. XM_054360791.1XP_054216766.1  cAMP-dependent protein kinase inhibitor alpha isoform X1

      UniProtKB/Swiss-Prot
      P04541, P61925, Q6IAV2
      UniProtKB/TrEMBL
      B2R4K1
    3. XM_054360790.1XP_054216765.1  cAMP-dependent protein kinase inhibitor alpha isoform X1

      UniProtKB/Swiss-Prot
      P04541, P61925, Q6IAV2
      UniProtKB/TrEMBL
      B2R4K1
    4. XM_054360788.1XP_054216763.1  cAMP-dependent protein kinase inhibitor alpha isoform X1

      UniProtKB/Swiss-Prot
      P04541, P61925, Q6IAV2
      UniProtKB/TrEMBL
      B2R4K1
    5. XM_054360787.1XP_054216762.1  cAMP-dependent protein kinase inhibitor alpha isoform X1

      UniProtKB/Swiss-Prot
      P04541, P61925, Q6IAV2
      UniProtKB/TrEMBL
      B2R4K1