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

Gene ID: 3760, updated on 5-Jul-2020

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
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

Genomic context

See KCNJ3 in Genome Data Viewer
Location:
2q24.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (154698581..154858354)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (155555093..155714864)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373694 Neighboring gene uncharacterized LOC105373693 Neighboring gene RNA, 5S ribosomal pseudogene 107 Neighboring gene uncharacterized LOC105373696 Neighboring gene chromobox 3 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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22731

Gene Ontology Provided by GOA

Component Evidence Code Pubs
T-tubule IEA
Inferred from Electronic Annotation
more info
 
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
parallel fiber to Purkinje cell synapse IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
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 inwardly-rectifying channel subfamily J member 3 splice variant 1e
potassium voltage-gated channel subfamily J member 3

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_001260508.1NP_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 (1) summary
    cl21560
    Location:47234
    Ion_trans_2; Ion channel
  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/Swiss-Prot
    P48549
    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/Swiss-Prot
    P48549
    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
    P48549
    Related
    ENSP00000295101.2, ENST00000295101.3
    Conserved Domains (1) summary
    pfam01007
    Location:47364
    IRK; Inward rectifier potassium channel

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    154698581..154858354
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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