| Tag | Content |
|---|---|
| UniProt Accession | CXA1_HUMAN; P17302; |
| Entrez ID | 2697 |
| GenBank Protein ID | |
| GenBank Nucleotide ID | |
| Protein Name | Gap junction alpha-1 protein (Connexin-43) (Cx43) (Gap junction 43 kDa heart protein) |
| Gene Name | GJA1; GJAL |
| Organism | Homo sapiens |
| NCBI Taxa ID | 9606 |
| Functional Description | Gap junction protein that acts as a regulator of bladder capacity. A 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. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract (By similarity). May play a role in cell growth inhibition through the regulation of NOV expression and localization. Plays an essential role in gap junction communication in the ventricles (By similarity). |
| Sequence (Fasta) | MGDWSALGKL LDKVQAYSTA GGKVWLSVLF IFRILLLGTA VESAWGDEQS AFRCNTQQPG 60 CENVCYDKSF PISHVRFWVL QIIFVSVPTL LYLAHVFYVM RKEEKLNKKE EELKVAQTDG 120 VNVDMHLKQI EIKKFKYGIE EHGKVKMRGG LLRTYIISIL FKSIFEVAFL LIQWYIYGFS 180 LSAVYTCKRD PCPHQVDCFL SRPTEKTIFI IFMLVVSLVS LALNIIELFY VFFKGVKDRV 240 KGKSDPYHAT SGALSPAKDC GSQKYAYFNG CSSPTAPLSP MSPPGYKLVT GDRNNSSCRN 300 YNKQASEQNW ANYSAEQNRM GQAGSTISNS HAQPFDFPDD NQNSKKLAAG HELQPLAIVD 360 QRPSSRASSR ASSRPRPDDL EI 383 |
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| Database | Annotation |
|---|---|
| CTD (Curated) (count: 19) (view all) | MESH:D000236
; Adenoma MESH:D001145 ; Arrhythmias, Cardiac MESH:C562831 ; Atrioventricular Septal Defect MESH:D001321 ; Autistic Disorder MESH:C537660 ; Basaran Yilmaz syndrome MESH:D003323 ; Coronary Aneurysm |
| DisGeNet (Curated) (count: 269) (view all) | C0001430; Adenoma
C0002170; Alopecia C0003811; Cardiac Arrhythmia C0004352; Autistic Disorder C0005697; Neurogenic Urinary Bladder C0005744; Blepharophimosis |
| HGMD (count: 80) (view all) | CD073645; Deafness; Small deletions
CD050452; Oculodentodigital dysplasia; Small deletions CD078148; Oculodentodigital dysplasia; Small deletions CD055691; Oculodentodigital dysplasia; Small deletions CI092818; Oculodentodigital dysplasia; Small insertions CI030628; Oculodentodigital dysplasia; Small insertions |
| GWASdb (count: 3) | rs3805787; Relative hand skill; dyslexia
rs3805787; Smoking initiation; nicotine dependence rs11961755; Asthma; asthma |
| PTM | Modification Sites |
|---|---|
| Phosphorylation (count: 33) (view all) | 137 IEIKKFKYGIEEHGK dbPAF
244 KDRVKGKSDPYHATS dbPAF 247 VKGKSDPYHATSGAL dbPAF 250 KSDPYHATSGALSPA dbPAF 251 SDPYHATSGALSPAK dbPAF 255 HATSGALSPAKDCGS dbPAF |
| Ubiquitination (count: 10) (view all) | 114 NKKEEELKVAQTDGV PLMD
128 VNVDMHLKQIEIKKF PLMD 136 QIEIKKFKYGIEEHG PLMD 144 YGIEEHGKVKMRGGL PLMD 243 VKDRVKGKSDPYHAT PLMD 258 SGALSPAKDCGSQKY PLMD |
| Sumoylation (count: 1) | 345 PDDNQNSKKLAAGHE PLMD |
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