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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]
GJA1 (Gap Junction Protein Alpha 1) is a Protein Coding gene. Diseases associated with GJA1 include Oculodentodigital Dysplasia and Syndactyly, Type Iii. Among its related pathways are Transport of connexins along the secretory pathway and Development Slit-Robo signaling. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and protein domain specific binding. An important paralog of this gene is GJA3.
Gap channels (gap junctions) are specialized cell-cell contacts that provide direct intracellular communication. They allow passive diffusion of molecules up to 1 kDa, including nutrients, metabolites (glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP).
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005243 | gap junction channel activity | IDA | 1696265 |
GO:0005515 | protein binding | IPI | 9707407 |
GO:0008013 | beta-catenin binding | IPI | 30992345 |
GO:0015075 | ion transmembrane transporter activity | IDA | 1696265 |
GO:0015562 | efflux transmembrane transporter activity | ISS | 26200696 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005623 | cell | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IDA | 30599359 |
GO:0005739 | mitochondrion | IDA | 15919068 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000132 | establishment of mitotic spindle orientation | IMP | 30992345 |
GO:0001937 | negative regulation of endothelial cell proliferation | IEA | -- |
GO:0002544 | chronic inflammatory response | IEA | -- |
GO:0002931 | response to ischemia | IEA | -- |
GO:0003104 | positive regulation of glomerular filtration | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Flufenamic acid | Approved | Pharma | Channel blocker, Inhibitor, Pore Blocker, Antagonist | Calcium-activated chloride channel blocker; NSAID. Also activates TRPC6 | 0 | |
Carvedilol | Approved, Investigational | Pharma | Antagonist, Target, other | 199 | ||
Carbenoxolone | Experimental | Pharma | Inhibitor | 0 | ||
octanol | Investigational | Pharma | Inhibitor | 0 | ||
Ca<sup>2+</sup> | Pharma | Activator, Agonist, Full agonist, Inhibitor, Antagonist, Channel blocker | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
8-Hydroxycarvedilol |
|
Compound | Action | Cas Number |
---|---|---|
10Panx | Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions | 955091-53-9 |
Carbenoxolone disodium | Gap junction blocker. Also inhibitor of 11 beta-hydroxysteroid dehydrogenase | 7421-40-1 |
Gap 26 | Gap junction blocker; inhibits smooth muscle contraction and IP3-mediated ATP release | 197250-15-0 |
Gap 27 | Selective gap junction blocker | 198284-64-9 |
Scrambled 10Panx | Scrambled version of 10Panx (Cat. No. 3348), Panx-1 mimetic inhibitory peptide | 1315378-72-3 |
Compound | Action | Cas Number |
---|---|---|
Gap19 | 1507930-57-5 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GJA1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GJA1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GJA1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GJA1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GJA1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gja1 30 17 |
|
||
Gja6 31 |
|
OneToOne | |||
Rat (Rattus norvegicus) |
Mammalia | Gja1 30 |
|
||
Chicken (Gallus gallus) |
Aves | GJA1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GJA1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gja1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | gja1-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cx43 30 |
|
||
cx40.8 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
16986 | Pathogenic: Oculodentodigital dysplasia | 121,447,000(+) | C/CTTT | INFRAME_INSERTION | |
16989 | Pathogenic: Oculodentodigital dysplasia | 121,447,624(+) | CTG/C | FRAMESHIFT_VARIANT | |
16994 | Pathogenic: Oculodentodigital dysplasia | 121,447,534(+) | CTA/C | FRAMESHIFT_VARIANT | |
645312 | Uncertain Significance: Oculodentodigital dysplasia, autosomal recessive | 121,447,743(+) | G/T | MISSENSE_VARIANT | |
651676 | Uncertain Significance: Oculodentodigital dysplasia, autosomal recessive | 121,447,212(+) | A/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3384624 | CNV | insertion | 20981092 |
esv3890934 | CNV | gain | 25118596 |
nsv969441 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
oculodentodigital dysplasia |
|
|
syndactyly, type iii |
|
|
palmoplantar keratoderma and congenital alopecia 1 |
|
|
erythrokeratodermia variabilis et progressiva 3 |
|
|
oculodentodigital dysplasia, autosomal recessive |
|