KCNJ3 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
KCNJ3
Official Name
potassium inwardly rectifying channel subfamily J member 3 [Source:HGNC Symbol;Acc:HGNC:6264]
Ensembl ID
ENSG00000162989
Bio databases IDs NCBI: 3760 Ensembl: ENSG00000162989
Aliases potassium inwardly rectifying channel subfamily J member 3, G protein-activated inward rectifier potassium channel 1
Synonyms GIRK-1, Kcnf3, Kcnj1, KGA, KIR3.1, potassium inwardly rectifying channel subfamily J member 3, potassium inwardly-rectifying channel, subfamily J, member 3
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human KCNJ3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • phosphatidylinositol 4,5-biphosphate binding domain
  • inward rectifier potassium channel
  • G-protein activated inward rectifier potassium channel
  • Inward rectifier potassium channel C-terminal domain
  • phosphatidylinositol-4,5-bisphosphate binding
  • Inward rectifier potassium channel transmembrane domain
  • protein binding
  • voltage-gated ion channel
  • ion channel

Pathways

Biological processes and signaling networks where the KCNJ3 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • uveal melanoma
  • ocular melanoma
  • dental caries
  • Alzheimer disease
  • sepsis
  • pulmonary emphysema
  • alcoholic pancreatitis
regulated by
regulates
role in cell
  • function
  • replication in
  • depolarization in
  • depolarization

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • membrane fraction
  • cytoskeleton
  • cell surface
  • perinuclear region
  • cellular membrane
  • vesicles
  • Endoplasmic Reticulum
  • microtubules
  • plasma membrane extracellular face
  • presynaptic membrane
  • neurites
  • secretory vesicles
  • transverse tubules
  • perikaryon
  • excitatory synapses

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human KCNJ3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • potassium ion transport
  • potassium ion transmembrane transport
  • regulation of ion transmembrane transport
  • regulation of heart rate by cardiac conduction
  • response to electrical stimulus

Cellular Component

Where in the cell the gene product is active
  • presynaptic membrane
  • T-tubule
  • voltage-gated potassium channel complex
  • external side of plasma membrane
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • G-protein activated inward rectifier potassium channel activity
  • voltage-gated potassium channel activity involved in atrial cardiomyocyte action potential repolarization
  • protein binding
  • inward rectifier potassium channel activity

Gene-Specific Assays for Results You Can Trust

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