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GJA1 gap junction protein, alpha 1, 43kDa [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu24686 NM_000165 Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu24686C NM_000165 Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA. Customized vector In-stock 5-7 $149.00

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Gene Symbol GJA1
Entrez Gene ID 2697
Full Name gap junction protein, alpha 1, 43kDa
Synonyms AVSD3, CMDR, CX43, GJAL, HLHS1, HSS, ODDD
General protein information
Preferred Names
gap junction alpha-1 protein
Names
gap junction alpha-1 protein
connexin 43
connexin-43
gap junction 43 kDa heart protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

6

6q22.31

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, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014].
Disorder

MIM: 121014

Oculodentodigital dysplasia, 164200 (3); Syndactyly, type III,

mRNA Protein Product Sequence Price Select
NM_000165, 635574611 NP_000156, 4504001 gap junction alpha-1 protein ORF Sequence $269.00
KEGG
hsa04540Gap junction
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
WikiPathways
WP437EGFR1 Signaling Pathway
WP289Myometrial Relaxation and Contraction Pathways
WP706SIDS Susceptibility Pathways
WP536Calcium Regulation in the Cardiac Cell
WP2118Arrhythmogenic right ventricular cardiomyopathy
WP2431Spinal Cord Injury
WP2355Corticotropin-releasing hormone
Pathway Interaction Database
ncadherinpathwayN-cadherin signaling events
fra_pathwayValidated transcriptional targets of AP1 family members Fra1 and Fra2
Reactome
REACT_9411Gap junction trafficking
REACT_11039Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
REACT_11049Formation of annular gap junctions
REACT_11043c-src mediated regulation of Cx43 function and closure of gap junctions
REACT_9480Gap junction trafficking and regulation
REACT_11035Gap junction degradation
REACT_11034Regulation of gap junction activity
REACT_9392Transport of connexins along the secretory pathway
REACT_9398Oligomerization of connexins into connexons
REACT_9509Gap junction assembly
REACT_11050Transport of connexons to the plasma membrane
REACT_11123Membrane Trafficking
Homo sapiens (human)GJA1NP_000156.1
Pan troglodytes (chimpanzee)GJA1XP_001164338.1
Macaca mulatta (Rhesus monkey)GJA1XP_001109617.1
Canis lupus familiaris (dog)GJA1NP_001002951.2
Bos taurus (cattle)GJA1NP_776493.1
Mus musculus (house mouse)Gja1NP_034418.1
Rattus norvegicus (Norway rat)Gja1NP_036699.1
Gallus gallus (chicken)GJA1NP_989917.1
Danio rerio (zebrafish)cx43NP_571113.1
Xenopus (Silurana) tropicalis (western clawed frog)gja1NP_988856.1
Process
IDNameEvidence
GO:0002544chronic inflammatory responseIEA
GO:0003104positive regulation of glomerular filtrationIEA
GO:0003158endothelium developmentIEA
GO:0006810transportTAS
GO:0006915apoptotic processIEA
GO:0006936muscle contractionTAS
GO:0007165signal transductionIMP
GO:0007204positive regulation of cytosolic calcium ion concentrationIEA
GO:0007267cell-cell signalingTAS
GO:0007507heart developmentIEA
GO:0009268response to pHIEA
GO:0010232vascular transportIEA
GO:0010644cell communication by electrical couplingIDA
GO:0010652positive regulation of cell communication by chemical couplingIEA
GO:0015867ATP transportIEA
GO:0016264gap junction assemblyTAS
GO:0034220ion transmembrane transportTAS
GO:0034405response to fluid shear stressIEA
GO:0043123positive regulation of I-kappaB kinase/NF-kappaB signalingIMP
GO:0043434response to peptide hormoneIEA
GO:0045732positive regulation of protein catabolic processIEA
GO:0045907positive regulation of vasoconstrictionIEA
GO:0045909positive regulation of vasodilationIEA
GO:0048812neuron projection morphogenesisIEA
GO:0051259protein oligomerizationIEA
GO:0051924regulation of calcium ion transportIEA
GO:0055085transmembrane transportIDA
GO:0060044negative regulation of cardiac muscle cell proliferationIEA
GO:0061024membrane organizationTAS
GO:0071260cellular response to mechanical stimulusIEA
GO:0086014atrial cardiac muscle cell action potentialTAS
GO:2000810regulation of tight junction assemblyIEA
GO:2000987positive regulation of behavioral fear responseIEA
Component
IDNameEvidence
GO:0000139Golgi membraneTAS
GO:0005741mitochondrial outer membraneIEA
GO:0005764lysosomeIEA
GO:0005769early endosomeIEA
GO:0005771multivesicular bodyIEA
GO:0005789endoplasmic reticulum membraneTAS
GO:0005794Golgi apparatusISS
GO:0005886plasma membraneISS
GO:0005886plasma membraneTAS
GO:0005887integral component of plasma membraneTAS
GO:0005916fascia adherensIEA
GO:0005921gap junctionIDA
GO:0005921gap junctionISS
GO:0005922connexon complexIEA
GO:0014704intercalated discIDA
GO:0014704intercalated discISS
GO:0030660Golgi-associated vesicle membraneTAS
GO:0045121membrane raftISS
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0004871signal transducer activityIMP
GO:0005243gap junction channel activityIDA
GO:0005515protein bindingIPI
GO:0015075ion transmembrane transporter activityTAS
GO:0017124SH3 domain bindingIEA
GO:0030165PDZ domain bindingIEA
GO:0071253connexin bindingIEA
GeneCards GJA1
PDB 2LL2
UniProt P17302
Vega OTTHUMG00000015479
MIM 121014
Ensembl ENSG00000152661
HGNC 4274
HPRD 00414

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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