Version 5.4
Mus musculus Gene: Gja1
Summary
InnateDB Gene IDBG-152172.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Gja1
Gene Name gap junction protein, alpha 1
Synonyms AU042049; AW546267; Cnx43; connexin43; Cx43; Cx43alpha1; Gja-1; Npm1
Species Mus musculus
Ensembl Gene ENSMUSG00000050953
Encoded Proteins
IDBP-152174
gap junction protein, alpha 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation from Orthologs
Summary
PMID 19528242
[Homo sapiens] GJA1 plays an important role in innate immune control of commensal-mediated intestinal epithelial wound repair.
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000152661:
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 10:56377300-56390419
Strand Forward strand
Band B4
Transcripts
ENSMUST00000068581 ENSMUSP00000064536
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 36 experimentally validated interaction(s) in this database.
They are also associated with 18 interaction(s) predicted by orthology.
Experimentally validated
Total 36 [view]
Protein-Protein 34 [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: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:0003347 epicardial cell to mesenchymal cell transition
GO:0006915 apoptotic process
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:0030500 regulation of bone mineralization
GO:0032024 positive regulation of insulin secretion
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: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:0060312 regulation of blood vessel remodeling
GO:0060371 regulation of atrial cardiac muscle cell membrane depolarization
GO:0060373 regulation of ventricular cardiac muscle cell membrane depolarization
GO:0061045 negative regulation of wound healing
GO:0061337 cardiac conduction
GO:0071260 cellular response to mechanical stimulus
GO:0090162 establishment of epithelial cell polarity
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: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:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005882 intermediate filament
GO:0005886 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:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0016328 lateral plasma membrane
GO:0030054 cell junction
GO:0043292 contractile fiber
GO:0045121 membrane raft
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000152661
View Gene Order
ENSBTAG00000001835
Not yet available
Pathways
NETPATH
REACTOME
REACT_224389
Gap junction trafficking and regulation pathway
REACT_227366
Gap junction assembly pathway
REACT_209837
Membrane Trafficking pathway
REACT_220352
Formation of annular gap junctions pathway
REACT_224600
c-src mediated regulation of Cx43 function and closure of gap junctions pathway
REACT_218773
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane pathway
REACT_209040
Gap junction degradation pathway
REACT_226013
Transport of connexins along the secretory pathway pathway
REACT_208406
Transport of connexons to the plasma membrane pathway
REACT_217189
Gap junction trafficking pathway
REACT_216289
Oligomerization of connexins into connexons pathway
REACT_214111
Regulation of gap junction activity pathway
KEGG
mmu04540
Gap junction pathway
mmu05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
NetPath_4
EGFR1 pathway
NetPath_25
FSH pathway
REACTOME
REACT_11039
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane pathway
REACT_11050
Transport of connexons to the plasma membrane pathway
REACT_11049
Formation of annular gap junctions pathway
REACT_11035
Gap junction degradation pathway
REACT_11043
c-src mediated regulation of Cx43 function and closure of gap junctions pathway
REACT_9398
Oligomerization of connexins into connexons pathway
REACT_9392
Transport of connexins along the secretory pathway pathway
REACT_9509
Gap junction assembly pathway
REACT_9411
Gap junction trafficking pathway
REACT_11034
Regulation of gap junction activity pathway
REACT_9480
Gap junction trafficking and regulation pathway
REACT_11123
Membrane Trafficking pathway
REACT_205130
Regulation of gap junction activity pathway
REACT_222229
c-src mediated regulation of Cx43 function and closure of gap junctions pathway
REACT_226816
Oligomerization of connexins into connexons pathway
REACT_203998
Gap junction trafficking pathway
REACT_207055
Gap junction assembly pathway
REACT_202965
Formation of annular gap junctions pathway
REACT_224535
Gap junction trafficking and regulation pathway
REACT_226670
Transport of connexins along the secretory pathway pathway
REACT_204570
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane pathway
REACT_220423
Transport of connexons to the plasma membrane pathway
REACT_207353
Gap junction degradation pathway
REACT_213260
Membrane Trafficking pathway
KEGG
hsa04540
Gap junction pathway
hsa05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
INOH
PID NCI
fra_pathway
Validated transcriptional targets of AP1 family members Fra1 and Fra2
ap1_pathway
AP-1 transcription factor network
ncadherinpathway
N-cadherin signaling events
Cross-References
SwissProt P23242
TrEMBL Q6T9D4 Q7TMQ1 Q8C4N2 Q9CT20
UniProt Splice Variant
Entrez Gene 14609
UniGene Mm.472795
RefSeq NM_010288 XM_006512541
OMIM
CCDS CCDS23851
HPRD
IMGT
MGI ID MGI:95713
MGI Symbol Gja1
EMBL AK011459 AK029291 AK036979 AK081668 AK145692 AK165986 AY427554 AY427555 AY427556 AY427557 AY427558 AY427559 AY427560 AY427561 BC006894 BC055375 CH466540 CT010327 M61896 M63801 X61576 X62836
GenPept AAA37444 AAA53027 AAH06894 AAH55375 AAR06891 AAR06892 AAR06893 AAR06894 AAR06895 AAR06896 AAR06897 AAR06898 BAB27632 BAC26375 BAC29656 BAC38285 BAE26592 BAE38502 CAA43778 CAA44640 CAJ18535 EDL05108
RNA Seq Atlas 14609

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca