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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000165 Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA. GenEZ ORF Cloning In-stock $418.00 $369.00 10

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Related Services

Gene Symbol GJA1
Entrez Gene ID 2697
Full Name gap junction protein, alpha 1, 43kDa
Synonyms CX43, DFNB38, GJAL, HSS, ODDD
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

6

6q21-q23.2

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].
Disorder

MIM: 121014

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

mRNA Protein Product Sequence Price Select
NM_000165, 122939163 NP_000156, 4504001 gap junction alpha-1 protein ORF Sequence $269.00
KEGG
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa04540Gap junction
Pathway Interaction Database
fra_pathwayValidated transcriptional targets of AP1 family members Fra1 and Fra2
ncadherinpathwayN-cadherin signaling events
WikiPathways
WP289Myometrial Relaxation and Contraction Pathways
WP437EGFR1 Signaling Pathway
WP536Calcium Regulation in the Cardiac Cell
WP2118Arrhythmogenic right ventricular cardiomyopathy
WP706SIDS Susceptibility Pathways
Reactome
REACT_11050Transport of connexons to the plasma membrane
REACT_11035Gap junction degradation
REACT_9480Gap junction trafficking and regulation
REACT_11049Formation of annular gap junctions
REACT_11123Membrane Trafficking
REACT_11039Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
REACT_11034Regulation of gap junction activity
REACT_9509Gap junction assembly
REACT_9398Oligomerization of connexins into connexons
REACT_11043c-src mediated regulation of Cx43 function and closure of gap junctions
REACT_9392Transport of connexins along the secretory pathway
REACT_9411Gap junction 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
GeneCards GJA1
PDB 2LL2
UniProt P17302
MIM 121014
Ensembl ENSG00000152661
HGNC 4274
HPRD 00414

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

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

Interactant



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