Q6TYA7

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession CXA1_RABIT; Q6TYA7;
Entrez ID 100008935
GenBank Protein ID NM_001198948.1; XM_008263297.2;
GenBank Nucleotide ID NP_001185877.1; XP_008261519.1;
Protein Name Gap junction alpha-1 protein (Connexin-43) (Cx43)
Gene Name GJA1
Organism Oryctolagus cuniculus
NCBI Taxa ID 9986
Functional DescriptionGap 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. 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
VNVEMHLKQI EIKKFKYGIE EHGKVKMRGG LLRTYIISIL FKSVFEVAFL LIQWYIYGFS 180
LSAVYTCKRD PCPHQVDCFL SRPTEKTIFI IFMLVVSLVS LALNIIELFY VFFKGVKDRV 240
KGKSDPYHAT TGPLSPSKDC GSPKYAYFNG CSSPTAPLSP MSPPGYKLVT GDRNNSSCRN 300
YNKQASEQNW ANYSAEQNRM GQAGSTISNS HAQPFDFPDD NQNSKKLAAG HELQPLAIVD 360
QRPSSRASSR ASSRPRPDDL EI 383

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1Serine PhosphorylationCervical cancer/carcinomaUS27915958277
[Reference]: Phosphorylation of the gap junction protein Connexin45 in CIN III lesions and cervical carcinomas.;Phosphorylation of the gap junction protein Connexin43 in CIN III lesions and cervical carcinomas.
2Serine PhosphorylationCervical cancer/carcinomaUS28215958277
[Reference]: Phosphorylation of the gap junction protein Connexin46 in CIN III lesions and cervical carcinomas.;Phosphorylation of the gap junction protein Connexin44 in CIN III lesions and cervical carcinomas.

※ Disease Cross-ref Annotation

DatabaseAnnotation
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

※ PTM Sites

PTM Modification Sites