InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: GJA1

Summary

InnateDB Gene

IDBG-95984.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GJA1

Gene Name

gap junction protein, alpha 1, 43kDa

Synonyms

AVSD3; CMDR; CX43; GJAL; HLHS1; HSS; ODDD

Species

Homo sapiens

Ensembl Gene

ENSG00000152661

Encoded Proteins

IDBP-95986

gap junction protein, alpha 1, 43kDa

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

InnateDB Annotation

Summary

PMID 19528242

GJA1 plays an important role in innate immune control of commensal-mediated intestinal epithelial wound repair.

Entrez Gene

Summary

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia and heart malformations. [provided by RefSeq, Jul 2008]
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 6:121435692-121449727

Strand

Forward strand

Band

q22.31

Transcripts

ENST00000282561

ENSP00000282561

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 34 experimentally validated interaction(s) in this database.
They are also associated with 18 interaction(s) predicted by orthology.

Experimentally validated
Total	34 [view]
Protein-Protein	32 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	18 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004871	signal transducer activity
GO:0005102	receptor binding
GO:0005243	gap junction channel activity
GO:0005515	protein binding
GO:0015075	ion transmembrane transporter activity
GO:0017124	SH3 domain binding
GO:0019904	protein domain specific binding
GO:0030165	PDZ domain binding
GO:0048487	beta-tubulin binding
GO:0071253	connexin binding
GO:0097110	scaffold protein binding

Biological Process

GO:0001649	osteoblast differentiation
GO:0001701	in utero embryonic development
GO:0001764	neuron migration
GO:0001937	negative regulation of endothelial cell proliferation
GO:0001947	heart looping
GO:0002070	epithelial cell maturation
GO:0002088	lens development in camera-type eye
GO:0002544	chronic inflammatory response
GO:0003104	positive regulation of glomerular filtration
GO:0003158	endothelium development
GO:0003294	atrial ventricular junction remodeling
GO:0006810	transport
GO:0006915	apoptotic process
GO:0006936	muscle contraction
GO:0007154	cell communication
GO:0007165	signal transduction
GO:0007204	positive regulation of cytosolic calcium ion concentration
GO:0007267	cell-cell signaling
GO:0007507	heart development
GO:0007512	adult heart development
GO:0008016	regulation of heart contraction
GO:0008285	negative regulation of cell proliferation
GO:0009268	response to pH
GO:0009749	response to glucose
GO:0010232	vascular transport
GO:0010628	positive regulation of gene expression
GO:0010629	negative regulation of gene expression
GO:0010643	cell communication by chemical coupling
GO:0010644	cell communication by electrical coupling
GO:0010652	positive regulation of cell communication by chemical coupling
GO:0015867	ATP transport
GO:0016264	gap junction assembly
GO:0030500	regulation of bone mineralization
GO:0032024	positive regulation of insulin secretion
GO:0034220	ion transmembrane transport
GO:0034405	response to fluid shear stress
GO:0035050	embryonic heart tube development
GO:0042733	embryonic digit morphogenesis
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043403	skeletal muscle tissue regeneration
GO:0043434	response to peptide hormone
GO:0045087	innate immune response (InnateDB)
GO:0045216	cell-cell junction organization
GO:0045732	positive regulation of protein catabolic process
GO:0045844	positive regulation of striated muscle tissue development
GO:0045907	positive regulation of vasoconstriction
GO:0045909	positive regulation of vasodilation
GO:0046850	regulation of bone remodeling
GO:0048514	blood vessel morphogenesis
GO:0048812	neuron projection morphogenesis
GO:0051259	protein oligomerization
GO:0051924	regulation of calcium ion transport
GO:0055085	transmembrane transport
GO:0060044	negative regulation of cardiac muscle cell proliferation
GO:0060156	milk ejection
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization
GO:0060371	regulation of atrial cardiac muscle cell membrane depolarization
GO:0060373	regulation of ventricular cardiac muscle cell membrane depolarization
GO:0061024	membrane organization
GO:0061045	negative regulation of wound healing
GO:0061337	cardiac conduction
GO:0071260	cellular response to mechanical stimulus
GO:0086014	atrial cardiac muscle cell action potential
GO:2000279	negative regulation of DNA biosynthetic process
GO:2000810	regulation of tight junction assembly
GO:2000987	positive regulation of behavioral fear response

Cellular Component

GO:0000139	Golgi membrane
GO:0005737	cytoplasm
GO:0005741	mitochondrial outer membrane
GO:0005764	lysosome
GO:0005768	endosome
GO:0005769	early endosome
GO:0005770	late endosome
GO:0005771	multivesicular body
GO:0005789	endoplasmic reticulum membrane
GO:0005794	Golgi apparatus
GO:0005829	cytosol
GO:0005882	intermediate filament
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0005911	cell-cell junction
GO:0005916	fascia adherens
GO:0005921	gap junction
GO:0005922	connexon complex
GO:0014704	intercalated disc
GO:0016020	membrane
GO:0016324	apical plasma membrane
GO:0016328	lateral plasma membrane
GO:0030054	cell junction
GO:0030660	Golgi-associated vesicle membrane
GO:0043292	contractile fiber
GO:0045121	membrane raft
GO:0070062	extracellular vesicular exosome