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
gap junction protein, alpha 1, 43kDa
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
EGFR1 pathway
FSH pathway
REACTOME
Gap junction degradation pathway
Formation of annular gap junctions pathway
c-src mediated regulation of Cx43 function and closure of gap junctions pathway
Transport of connexons to the plasma membrane pathway
Gap junction trafficking pathway
Gap junction assembly pathway
Oligomerization of connexins into connexons pathway
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane pathway
Regulation of gap junction activity pathway
Gap junction trafficking and regulation pathway
Transport of connexins along the secretory pathway pathway
Membrane Trafficking pathway
KEGG
Gap junction pathway
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
INOH
PID BIOCARTA
Inactivation of gsk3 by akt causes accumulation of b-catenin in alveolar macrophages [Biocarta view]
PID NCI
Validated transcriptional targets of AP1 family members Fra1 and Fra2
AP-1 transcription factor network
N-cadherin signaling events
Cross-References
SwissProt P17302
TrEMBL B4DI81 B4DMC9 B4DN50
UniProt Splice Variant
Entrez Gene 2697
UniGene Hs.74471
RefSeq NM_000165
HUGO HGNC:4274
OMIM 121014
CCDS CCDS5123
HPRD
IMGT
EMBL AF151980 AK295460 AK297402 AK297764 AK312324 AK316159 AL139098 BC026329 CH471051 CR541660 M65188 X52947
GenPept AAA52131 AAD37802 AAH26329 BAG35246 BAG58393 BAG59841 BAG60112 BAH14530 CAA37122 CAG46461 CAI20002 EAW48178
RNA Seq Atlas 2697