| UniProt ID | CXB1_HUMAN | |
|---|---|---|
| UniProt AC | P08034 | |
| Protein Name | Gap junction beta-1 protein | |
| Gene Name | GJB1 | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 283 | |
| Subcellular Localization |
Cell membrane Multi-pass membrane protein. Cell junction, gap junction. |
|
| Protein Description | One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.. | |
| Protein Sequence | MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVRLWSLQLILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLSPEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC | |
| Overview of Protein Modification Sites with Functional and Structural Information | ||
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* ASA = Accessible Surface Area
| Locations | Modification | Substrate Peptides & Secondary Structure |
ASA (%) | Reference | Orthologous Protein Cluster |
|---|---|---|---|---|---|
| 4 | Phosphorylation | ----MNWTGLYTLLS ----CCCHHHHHHHH | 16.59 | 24043423 | |
| 7 | Phosphorylation | -MNWTGLYTLLSGVN -CCCHHHHHHHHCCC | 9.18 | 24043423 | |
| 8 | Phosphorylation | MNWTGLYTLLSGVNR CCCHHHHHHHHCCCC | 26.68 | 24043423 | |
| 176 | Phosphorylation | DVYPCPNTVDCFVSR EEEECCCCEEEEECC | 11.67 | - | |
| 182 | Phosphorylation | NTVDCFVSRPTEKTV CCEEEEECCCCCHHH | 16.58 | 22817900 | |
| 185 | Phosphorylation | DCFVSRPTEKTVFTV EEEECCCCCHHHHHH | 49.34 | 22817900 | |
| 225 | Phosphorylation | ARRAQRRSNPPSRKG HHHHHHHCCCCCCCC | 56.74 | 27470641 | |
| 229 | Phosphorylation | QRRSNPPSRKGSGFG HHHCCCCCCCCCCCC | 48.13 | 27470641 | |
| 233 | Phosphorylation | NPPSRKGSGFGHRLS CCCCCCCCCCCCCCC | 33.70 | 26657352 | |
| 240 | Phosphorylation | SGFGHRLSPEYKQNE CCCCCCCCHHHHHHH | 18.68 | 27470641 | |
| 243 | Phosphorylation | GHRLSPEYKQNEINK CCCCCHHHHHHHHHH | 22.66 | 27470641 | |
| 250 | Ubiquitination | YKQNEINKLLSEQDG HHHHHHHHHHHCCCC | 57.37 | - | |
| 253 | Phosphorylation | NEINKLLSEQDGSLK HHHHHHHHCCCCCHH | 43.58 | 23312004 | |
| 258 | Phosphorylation | LLSEQDGSLKDILRR HHHCCCCCHHHHHHH | 40.30 | 29255136 | |
| 260 | Ubiquitination | SEQDGSLKDILRRSP HCCCCCHHHHHHHCC | 44.41 | - | |
| 266 | Phosphorylation | LKDILRRSPGTGAGL HHHHHHHCCCCCCCH | 22.65 | 29255136 | |
| 269 | Phosphorylation | ILRRSPGTGAGLAEK HHHHCCCCCCCHHHH | 27.52 | 27470641 | |
| 276 | Ubiquitination | TGAGLAEKSDRCSAC CCCCHHHHCCCCCCC | 52.64 | - | |
| 277 | Phosphorylation | GAGLAEKSDRCSAC- CCCHHHHCCCCCCC- | 23.07 | 11723288 | |
| 281 | Phosphorylation | AEKSDRCSAC----- HHHCCCCCCC----- | 33.30 | 23312004 |
| Modified Location | Modified Residue | Modification | Type of Upstream Proteins | Gene Name of Upstream Proteins | UniProt AC of Upstream Proteins | Sources |
|---|---|---|---|---|---|---|
| 229 | S | Phosphorylation | Kinase | PKC-FAMILY | - | GPS |
| 229 | S | Phosphorylation | Kinase | PKC_GROUP | - | PhosphoELM |
| 233 | S | Phosphorylation | Kinase | PKA-FAMILY | - | GPS |
| 233 | S | Phosphorylation | Kinase | PKC-FAMILY | - | GPS |
| 233 | S | Phosphorylation | Kinase | PKA_GROUP | - | PhosphoELM |
| 233 | S | Phosphorylation | Kinase | PKC_GROUP | - | PhosphoELM |
| 243 | Y | Phosphorylation | Kinase | EPHA1 | P21709 | PSP |
| 243 | Y | Phosphorylation | Kinase | EPHB1 | P54762 | PSP |
| 243 | Y | Phosphorylation | Kinase | RON | Q04912 | PSP |
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of CXB1_HUMAN !! | ||||||
* Distance = the distance between SAP position and PTM sites.
| Modified Location | Modification | Variant Position (Distance <= 10) |
Residue Change | SAP | Related Disease | Reference |
|---|---|---|---|---|---|---|
Oops, there are no SNP-PTM records of CXB1_HUMAN !! | ||||||
| Interacting Protein | Gene Name | Interaction Type | PPI Reference | Domain-Domain Interactions |
|---|---|---|---|---|
| PLAK_HUMAN | JUP | physical | 7971964 | |
| CAV1_HUMAN | CAV1 | physical | 11980479 | |
| A4_HUMAN | APP | physical | 21832049 |
| Kegg Disease | ||||||
|---|---|---|---|---|---|---|
| H00264 | Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atroph | |||||
| OMIM Disease | ||||||
| 302800 | Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) | |||||
| 145900 | Dejerine-Sottas syndrome (DSS) | |||||
| Kegg Drug | ||||||
| There are no disease associations of PTM sites. | ||||||
| DrugBank | ||||||
| There are no disease associations of PTM sites. | ||||||
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