| Gene Information | |
|---|---|
| Gene Name | GJB1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 283 |
| Protein Names | Gap junction beta-1 protein (Connexin-32) (Cx32) (GAP junction 28 kDa liver protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000169562 ) |
| Evolutionary Stage | Vertebrata |
| AlphaFoldDB | P08034 |
| Gene Card | GJB1 |
| Uniprot ID | P08034 |
| Pfam | PF00029 |
| In ASD | no |
| Allosteric Prediction | no (-1.000018871) |
| Ortholog in Animals | Alpaca_ GJB1 ( ortholog_one2one ) Dog_ GJB1 ( ortholog_one2one ) Macaque_ GJB1 ( ortholog_one2one ) Mouse_ Gjb1 ( ortholog_one2one ) Pig_ GJB1 ( ortholog_one2one ) Rat_ Gjb1 ( ortholog_one2one ) Rabbit_ GJB1 ( ortholog_one2one ) |
| Ohnologs | GJB6, GJA9, GJA10, GJB7, GJB2, GJB3, GJB5, GJB4 |
| Paralogs | GJB2, GJB6, GJB3, GJB5, GJB4, GJB7, GJA4, GJA1, GJA8, GJA5, GJA3, GJA10, GJA9, GJD2, GJD3, GJC3, GJC2, GJC1, GJD4, GJE1 |
| Tissue | NA |
| Tissue Specificity | NA |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 5KK9 (NMR - ) |
| DBSNP | rs1555936989 rs1555936999 rs104894820 rs104894820 rs863224974 rs116840815 rs1060501002 rs587777876 rs768834663 rs768834663 rs104894817 rs1060501000 rs1060500998 rs879254012 rs786204095 rs116840817 rs913934445 rs863224613 rs104894824 rs1555937077 rs116840818 rs104894819 rs878853697 rs863224972 rs116840819 rs199570177 rs879254097 rs104894823 rs587777877 rs1555937122 rs756928158 rs756000896 rs104894821 rs779696968 rs1131691322 rs863224973 rs1555937161 rs876661119 rs879253995 rs104894813 rs104894826 rs104894812 rs1555937180 rs786204123 rs104894810 rs104894818 rs1555937194 rs1555937197 rs1241595912 rs139643362 rs1555937218 rs104894811 rs879253909 rs863224471 rs1555937233 rs116840821 rs1555937244 rs1064794244 rs770116247 rs771579861 rs587777878 rs104894822 rs1555937270 rs753503984 rs864622215 rs879254099 rs144381053 rs199834862 rs104894814 rs587781246 rs780335726 rs104894825 rs776206757 rs587777879 |
| Subcellular location [CC] | Cell membrane; Multi-pass membrane protein. Cell junction, gap junction. |
| Mouse PG classification | NA |
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