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    KCNJ3 potassium inwardly rectifying channel subfamily J member 3 [ Homo sapiens (human) ]

    Gene ID: 3760, updated on 9-Dec-2024

    Summary

    Official Symbol
    KCNJ3provided by HGNC
    Official Full Name
    potassium inwardly rectifying channel subfamily J member 3provided by HGNC
    Primary source
    HGNC:HGNC:6264
    See related
    Ensembl:ENSG00000162989 MIM:601534; AllianceGenome:HGNC:6264
    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
    KGA; GIRK1; KIR3.1
    Summary
    Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Down's syndrome, ataxia, and Parkinson's disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012]
    Expression
    Biased expression in brain (RPKM 10.3), heart (RPKM 5.7) and 8 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KCNJ3 in Genome Data Viewer
    Location:
    2q24.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (154698695..154858354)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (155151671..155311378)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (155555207..155714866)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373694 Neighboring gene uncharacterized LOC105373693 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:155439873-155440600 Neighboring gene RNA, 5S ribosomal pseudogene 107 Neighboring gene NANOG hESC enhancer GRCh37_chr2:155664041-155664542 Neighboring gene NANOG hESC enhancer GRCh37_chr2:155730474-155731098 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:155802299-155803017 Neighboring gene uncharacterized LOC105373696 Neighboring gene CBX3 pseudogene 6

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ22731

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of I(KACh) inward rectifier potassium channel complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in T-tubule IEA
    Inferred from Electronic Annotation
    more info
     
    located_in external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in parallel fiber to Purkinje cell synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of voltage-gated potassium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    G protein-activated inward rectifier potassium channel 1
    Names
    GIRK-1
    inward rectifier K(+) channel Kir3.1
    inward rectifier K+ channel KIR3.1
    potassium channel, inwardly rectifying subfamily J member 3
    potassium voltage-gated channel subfamily J member 3

    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_001260508.2NP_001247437.1  G protein-activated inward rectifier potassium channel 1 isoform 2

      See identical proteins and their annotated locations for NP_001247437.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, compared to variant 1. This difference results in a frameshift and a protein (isoform 2; also known as GIRK1d) with a truncated C-terminus, compared to isoform 1.
      Source sequence(s)
      AC093633, AK293824, U50964
      Consensus CDS
      CCDS58733.1
      UniProtKB/Swiss-Prot
      P48549
      Related
      ENSP00000438410.1, ENST00000544049.2
      Conserved Domains (2) summary
      pfam01007
      Location:47187
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:194234
      IRK_C; Inward rectifier potassium channel C-terminal domain
    2. NM_001260509.2NP_001247438.1  G protein-activated inward rectifier potassium channel 1 isoform 3

      See identical proteins and their annotated locations for NP_001247438.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks the 3' terminal exon and uses an alternate splice site in the upstream coding region, compared to variant 1. These differences result in a protein (isoform 3; also known as GIRK1c) with a truncated and novel C-terminus, compared to isoform 1.
      Source sequence(s)
      GU068048, U50964
      UniProtKB/TrEMBL
      D2X9V0
      Conserved Domains (1) summary
      cl21560
      Location:47307
      Ion_trans_2; Ion channel
    3. NM_001260510.2NP_001247439.1  G protein-activated inward rectifier potassium channel 1 isoform 4

      See identical proteins and their annotated locations for NP_001247439.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks multiple 3' terminal exons and contains an additional coding segment, compared to variant 1. These differences result in a protein (isoform 4; also known as GIRK1e) with a truncated and novel C-terminus, compared to isoform 1.
      Source sequence(s)
      GU074516, U50964
      UniProtKB/TrEMBL
      D2XBF0
      Conserved Domains (1) summary
      cl21560
      Location:47234
      Ion_trans_2; Ion channel
    4. NM_002239.4NP_002230.1  G protein-activated inward rectifier potassium channel 1 isoform 1

      See identical proteins and their annotated locations for NP_002230.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1; also known as GIRK1a).
      Source sequence(s)
      AC093633, U50964
      Consensus CDS
      CCDS2200.1
      UniProtKB/Swiss-Prot
      B4DEW7, P48549, Q8TBI0
      Related
      ENSP00000295101.2, ENST00000295101.3
      Conserved Domains (2) summary
      pfam01007
      Location:47187
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:194364
      IRK_C; Inward rectifier potassium channel C-terminal domain

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      154698695..154858354
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      155151671..155311378
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)