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

Gene ID: 5569, updated on 2-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
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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 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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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)

Genotypes

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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