| URN | urn:agi-llid:2697 |
|---|---|
| Total Entities | 0 |
| Connectivity | 1524 |
| Name | Gja1 |
| Description | gap junction protein, alpha 1, 43kDa |
| Notes | 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] |
| Ariadne Ontology | Gap junction assembly |
|---|---|
| Secreted proteins | |
| Biofluids assayable substances |
| GO Molecular Function | receptor binding |
|---|---|
| protein domain specific binding | |
| beta-tubulin binding | |
| SH3 domain binding | |
| PDZ domain binding | |
| signal transducer activity | |
| transmembrane transporter activity | |
| ion transmembrane transporter activity | |
| gap junction channel activity |
| GO Cellular Component | cell junction |
|---|---|
| membrane | |
| Golgi membrane | |
| endoplasmic reticulum membrane | |
| Golgi-associated vesicle membrane | |
| mitochondrial outer membrane | |
| intermediate filament | |
| membrane raft | |
| lateral plasma membrane | |
| apical plasma membrane | |
| connexon complex | |
| integral to plasma membrane | |
| integral to membrane | |
| plasma membrane | |
| cytoplasm | |
| endosome | |
| cytosol | |
| contractile fiber | |
| Golgi apparatus | |
| lysosome | |
| early endosome | |
| late endosome | |
| multivesicular body | |
| cell-cell junction | |
| gap junction | |
| fascia adherens | |
| intercalated disc |
| GO Biological Process | transmembrane transport |
|---|---|
| cell communication | |
| cellular membrane organization | |
| cell communication by chemical coupling | |
| cell communication by electrical coupling | |
| cell-cell signaling | |
| positive regulation of I-kappaB kinase-NF-kappaB cascade | |
| signal transduction | |
| regulation of tight junction assembly | |
| negative regulation of cell proliferation | |
| regulation of atrial cardiac muscle cell membrane depolarization | |
| regulation of ventricular cardiac muscle cell membrane depolarization | |
| regulation of ventricular cardiac muscle cell membrane repolarization | |
| epicardial cell to mesenchymal cell transition | |
| neuron projection morphogenesis | |
| osteoblast differentiation | |
| epithelial cell maturation | |
| ion transmembrane transport | |
| neuron migration | |
| establishment of epithelial cell polarity | |
| apoptotic process | |
| cell-cell junction organization | |
| gap junction assembly | |
| response to peptide hormone stimulus | |
| milk ejection | |
| response to pH | |
| negative regulation of gene expression | |
| positive regulation of striated muscle tissue development | |
| regulation of bone mineralization | |
| regulation of heart contraction | |
| cardiac conduction | |
| regulation of blood vessel remodeling | |
| regulation of bone remodeling | |
| positive regulation of gene expression | |
| positive regulation of protein catabolic process | |
| regulation of calcium ion transport | |
| heart looping | |
| limb bud formation | |
| skeletal muscle tissue regeneration | |
| lens development in camera-type eye | |
| embryonic heart tube development | |
| heart development | |
| adult heart development | |
| in utero embryonic development | |
| blood vessel morphogenesis | |
| vascular transport | |
| atrial ventricular junction remodeling | |
| muscle contraction | |
| transport | |
| ATP transport | |
| protein oligomerization |
| Pathway | Gap Junction Assembly |
|---|---|
| TGFB1-TGFBR2 Expression Targets | |
| WNT1 Expression Targets | |
| WNT3A Expression Targets | |
| GH1-GHR/NF-kB/ELK-SRF/MYC Expression Targets | |
| GH1-GHR/STAT Expression Targets | |
| PRL-GHR/NF-kB/ELK-SRF/MYC Expression Targets | |
| PRL-GHR/STAT Expression Targets | |
| GH1-PRLR Expression Targets | |
| PRL-PRLR Expression Targets | |
| KITLG/STAT Expression Targets | |
| VEGFA/CTNNB/CTNND Expression Targets | |
| VEGFA/ATF/CREB/ELK-SRF Expression Targets | |
| FGF8/AP-1/CREB/MYC Expression Targets | |
| OXT Expression Targets | |
| Adenosine Expression Targets | |
| GNRH1 Expression Targets | |
| S1P Expression Targets | |
| FSHR Expression Targets | |
| EDN1 Expression Targets | |
| FGF2/AP-1/CREB/CREBBP/ELK-SRF/MYC Expression Targets | |
| IGF1/STAT Expression Targets | |
| VEGFA/STAT Expression Targets | |
| FGF2/STAT Expression Targets | |
| IL1B/PGE2 Expression Targets | |
| AGT/CREB Expression Targets | |
| AGT/STAT Expression Targets | |
| EGF/AP-1/ATF Expression Targets | |
| EGF/CREB/CREBBP/ELK-SRF/MYC Expression Targets | |
| EGF/MEF/MYOD/NFATC Expression Targets | |
| EGF/STAT Expression Targets | |
| IGF1/ELK-SRF/HIF1A/MYC/SREBF Expression Targets | |
| IGF1/MEF/MYOD/MYOG Expression Targets | |
| KITLG/AP-1/CREB/CREBBP/MYC Expression Targets | |
| PDGF/AP-1/CREB/CREBBP/MYC Expression Targets | |
| PDGF/STAT Expression Targets | |
| TGFB1-ACVRL1 Expression Targets | |
| TGFB1-TGFBR1/AP-1 Expression Targets | |
| VEGFA/AP-1/CREBBP/MYC Expression Targets | |
| IL1B Expression Targets | |
| EGF/CTNN Expression Targets | |
| drug-gene, gene-chemical, gene-gene interaction pathway | |
| losartan_expanded2 | |
| losartan_expanded3 | |
| losartan-gene, gene-chemical, gene-gene interaction pathway | |
| losartan-gene, gene-chemical, gene-gene interaction pathway | |
| losartan-gene, gene-chemical, gene-gene interaction pathway |
| Group | Gap junction assembly |
|---|---|
| transmembrane transport | |
| cell communication | |
| cellular membrane organization | |
| cell communication by chemical coupling | |
| cell communication by electrical coupling | |
| cell-cell signaling | |
| positive regulation of I-kappaB kinase-NF-kappaB cascade | |
| signal transduction | |
| regulation of tight junction assembly | |
| negative regulation of cell proliferation | |
| regulation of atrial cardiac muscle cell membrane depolarization | |
| regulation of ventricular cardiac muscle cell membrane depolarization | |
| regulation of ventricular cardiac muscle cell membrane repolarization | |
| epicardial cell to mesenchymal cell transition | |
| neuron projection morphogenesis | |
| osteoblast differentiation | |
| epithelial cell maturation | |
| ion transmembrane transport | |
| neuron migration | |
| establishment of epithelial cell polarity | |
| apoptotic process | |
| cell-cell junction organization | |
| gap junction assembly | |
| response to peptide hormone stimulus | |
| milk ejection | |
| response to pH | |
| negative regulation of gene expression | |
| positive regulation of striated muscle tissue development | |
| regulation of bone mineralization | |
| regulation of heart contraction | |
| cardiac conduction | |
| regulation of blood vessel remodeling | |
| regulation of bone remodeling | |
| positive regulation of gene expression | |
| positive regulation of protein catabolic process | |
| regulation of calcium ion transport | |
| heart looping | |
| limb bud formation | |
| skeletal muscle tissue regeneration | |
| lens development in camera-type eye | |
| embryonic heart tube development | |
| heart development | |
| adult heart development | |
| in utero embryonic development | |
| blood vessel morphogenesis | |
| vascular transport | |
| atrial ventricular junction remodeling | |
| muscle contraction | |
| transport | |
| ATP transport | |
| protein oligomerization | |
| receptor binding | |
| protein domain specific binding | |
| beta-tubulin binding | |
| SH3 domain binding | |
| PDZ domain binding | |
| signal transducer activity | |
| transmembrane transporter activity | |
| ion transmembrane transporter activity | |
| gap junction channel activity | |
| cell junction | |
| membrane | |
| Golgi membrane | |
| endoplasmic reticulum membrane | |
| Golgi-associated vesicle membrane | |
| mitochondrial outer membrane | |
| intermediate filament | |
| membrane raft | |
| lateral plasma membrane | |
| apical plasma membrane | |
| connexon complex | |
| integral to plasma membrane | |
| integral to membrane | |
| plasma membrane | |
| cytoplasm | |
| endosome | |
| cytosol | |
| contractile fiber | |
| Golgi apparatus | |
| lysosome | |
| early endosome | |
| late endosome | |
| multivesicular body | |
| cell-cell junction | |
| gap junction | |
| fascia adherens | |
| intercalated disc | |
| Secreted proteins | |
| Biofluids assayable substances |
| MedScan ID | 2697 |
|---|
| Hugo ID | 4274 |
|---|
| Human chromosome position | 6q21-q23.2 |
|---|
| LocusLink ID | 2697 |
|---|---|
| 14609 | |
| 24392 |
| Alias | HSS |
|---|---|
| CX43 | |
| GJAL | |
| ODDD | |
| AVSD3 | |
| HLHS1 | |
| DFNB38 | |
| gap junction alpha-1 protein | |
| connexin 43 | |
| connexin-43 | |
| gap junction 43 kDa heart protein | |
| Npm1 | |
| Cnx43 | |
| Gja-1 | |
| AU042049 | |
| AW546267 | |
| Cx43alpha1 | |
| connexin43 | |
| alpha 1 connexin | |
| gap junction membrane channel protein alpha 1 | |
| Cxn-43 | |
| Gja1 | |
| Gja I | |
| gap junction protein, alpha-like | |
| LOC360329 | |
| gap junction protein, alpha 1, 43kDa | |
| ODOD protein | |
| gap junction protein, alpha 1, 43kDa (connexin 43) | |
| MGC93610 | |
| oculodentodigital dysplasia (syndactyly type III) | |
| oculodentodigital dysplasia gene | |
| ODOD | |
| SDTY3 | |
| OTTHUMP00000017111 | |
| gap junction protein, alpha 1, 43kD | |
| 43 kDa gap junction protein, alpha 1 | |
| Gap junction protein, alpha 1, 43 kD (connexin 43) | |
| 43 kDa gap junction protein, alpha I | |
| gap junction membrane channel protein alpha I | |
| Gap junction alpha-6 protein (Connexin 33) | |
| gap junction membrane channel protein alpha 6 | |
| gap junction membrane channel protein alpha VI |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 121014 |
|---|---|
| 600309 | |
| 234100 | |
| 241550 | |
| 164200 | |
| 257850 | |
| 186100 |
| Unigene ID | Hs.74471 |
|---|---|
| Mm.378921 | |
| Rn.10346 | |
| Mm.477216 |
| KEGG ID | hsa:2697 |
|---|---|
| mmu:14609 | |
| rno:24392 |
| Swiss-Prot Accession | P17302 |
|---|---|
| P23242 | |
| Q8C4N2 | |
| P08050 | |
| Q544I7 | |
| Q8CE05 | |
| B2R5U9 | |
| Q6FHU1 | |
| Q9Y5I8 | |
| Q53ZE1 | |
| Q53FJ6 | |
| Q3UTR0 | |
| Q6T9D4 | |
| Q7TMQ1 | |
| Q9CT20 | |
| Q6Q6S2 |
| GO ID | 0030165 |
|---|---|
| 0017124 | |
| 0005243 | |
| 0015075 | |
| 0005102 | |
| 0004871 | |
| 0015867 | |
| 0007512 | |
| 0006915 | |
| 0048514 | |
| 0007267 | |
| 0016044 | |
| 0002070 | |
| 0016264 | |
| 0007507 | |
| 0001947 | |
| 0001701 | |
| 0034220 | |
| 0060174 | |
| 0006936 | |
| 0008285 | |
| 0010629 | |
| 0001764 | |
| 0048812 | |
| 0043123 | |
| 0010628 | |
| 0045732 | |
| 0045844 | |
| 0051259 | |
| 0051924 | |
| 0008016 | |
| 0009268 | |
| 0043434 | |
| 0007165 | |
| 0043403 | |
| 0006810 | |
| 0010232 | |
| 0005794 | |
| 0000139 | |
| 0030660 | |
| 0005922 | |
| 0043292 | |
| 0005829 | |
| 0005769 | |
| 0005789 | |
| 0005916 | |
| 0005921 | |
| 0005887 | |
| 0014704 | |
| 0005764 | |
| 0045121 | |
| 0005741 | |
| 0005771 | |
| 0005886 | |
| 0048487 | |
| 0019904 | |
| 0022857 | |
| 0003294 | |
| 0061337 | |
| 0007154 | |
| 0010643 | |
| 0010644 | |
| 0045216 | |
| 0035050 | |
| 0003347 | |
| 0090162 | |
| 0002088 | |
| 0060156 | |
| 0001649 | |
| 0060371 | |
| 0060312 | |
| 0030500 | |
| 0046850 | |
| 2000810 | |
| 0060373 | |
| 0060307 | |
| 0055085 | |
| 0016324 | |
| 0030054 | |
| 0005911 | |
| 0005737 | |
| 0005768 | |
| 0016021 | |
| 0005882 | |
| 0005770 | |
| 0016328 | |
| 0016020 | |
| 0005783 |
| PIR ID | A39802 |
|---|---|
| A35853 | |
| A24047 | |
| S00532 |
| Swiss-Prot ID | CXA1_MOUSE |
|---|---|
| CXA1_HUMAN | |
| CXA1_RAT | |
| Q544I7_MOUSE | |
| Q8C4N2_MOUSE |
| Cell Localization | Cell membrane |
|---|---|
| Cell junction | |
| gap junction | |
| Plasma membrane | |
| Membrane |
| IPI ID | IPI00989666 |
|---|---|
| IPI00218487 | |
| IPI00231746 | |
| IPI00380273 |
| Mouse chromosome position | 10 29.0 cM |
|---|
| Rat chromosome position | 20q11 |
|---|
| Homologene ID | 136 |
|---|
| MGI ID | 95713 |
|---|
| RGD ID | 2690 |
|---|
| Primary Cell Localization | Plasma membrane |
|---|