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

Gene ID: 5569, updated on 7-Dec-2018

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
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

Genomic context

See PKIA in Genome Data Viewer
Location:
8q21.13
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (78516101..78605267)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (79428336..79517502)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724874 Neighboring gene VISTA enhancer hs1422 Neighboring gene uncharacterized LOC105375911 Neighboring gene RNA, U6 small nuclear 1220, pseudogene Neighboring gene PKIA antisense RNA 1 Neighboring gene chromosome 4 open reading frame 46 pseudogene Neighboring gene zinc finger C2HC-type containing 1A 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

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Alcoholism, organism-specific biosystem (from KEGG)
    Alcoholism, organism-specific biosystemAlcoholism, also called dependence on alcohol (ethanol), is a chronic relapsing disorder that is progressive and has serious detrimental health outcomes. As one of the primary mediators of the reward...
  • Alcoholism, conserved biosystem (from KEGG)
    Alcoholism, conserved biosystemAlcoholism, also called dependence on alcohol (ethanol), is a chronic relapsing disorder that is progressive and has serious detrimental health outcomes. As one of the primary mediators of the reward...
  • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
    Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
  • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
  • Myometrial Relaxation and Contraction Pathways, organism-specific biosystem (from WikiPathways)
    Myometrial Relaxation and Contraction Pathways, organism-specific biosystemThis pathway illustrates signaling networks implicated in uterine muscle contraction at labor and quiescence throughout gestation (pregnancy). The muscle of the uterus, responsible for contractile ac...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cAMP-dependent protein kinase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cAMP-dependent protein kinase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
cAMP-dependent protein kinase inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase A catalytic subunit binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
cAMP-dependent protein kinase inhibitor alpha
Names
PKI-alpha
cAMP-dependent protein kinase inhibitor, muscle/brain isoform
protein kinase (cAMP-dependent, catalytic) inhibitor alpha

NCBI Reference Sequences (RefSeq)

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
    P61925
    UniProtKB/TrEMBL
    A0A024R7Y9
    Related
    ENSP00000379696.2, ENST00000396418.6
    Conserved Domains (1) summary
    pfam02827
    Location:270
    PKI; cAMP-dependent protein kinase inhibitor
  2. NM_181839.2NP_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
    P61925
    UniProtKB/TrEMBL
    A0A024R7Y9
    Related
    ENSP00000336552.5, ENST00000352966.9
    Conserved Domains (1) summary
    pfam02827
    Location:270
    PKI; cAMP-dependent protein kinase inhibitor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    78516101..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
    P61925
    UniProtKB/TrEMBL
    A0A024R7Y9
    Conserved Domains (1) summary
    pfam02827
    Location:270
    PKI; cAMP-dependent protein kinase inhibitor
  2. XM_017013621.1XP_016869110.1  cAMP-dependent protein kinase inhibitor alpha isoform X1

    UniProtKB/Swiss-Prot
    P61925
    UniProtKB/TrEMBL
    A0A024R7Y9
    Conserved Domains (1) summary
    pfam02827
    Location:270
    PKI; cAMP-dependent protein kinase inhibitor
  3. XM_017013622.2XP_016869111.1  cAMP-dependent protein kinase inhibitor alpha isoform X1

    UniProtKB/Swiss-Prot
    P61925
    UniProtKB/TrEMBL
    A0A024R7Y9
    Related
    ENSP00000430887.1, ENST00000518467.1
    Conserved Domains (1) summary
    pfam02827
    Location:270
    PKI; cAMP-dependent protein kinase inhibitor
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