Tag | Content |
---|---|
UniProt Accession | GBRB3_HUMAN; P28472; |
Entrez ID | 2562 |
GenBank Protein ID | NM_000814.5; NM_001191320.1; NM_001191321.2; NM_001278631.1; NM_021912.4; |
GenBank Nucleotide ID | NP_000805.1; NP_001178249.1; NP_001178250.1; NP_001265560.1; NP_068712.1; |
Protein Name | Gamma-aminobutyric acid receptor subunit beta-3 (GABA(A) receptor subunit beta-3) |
Gene Name | GABRB3 |
Organism | Homo sapiens |
NCBI Taxa ID | 9606 |
Functional Description | Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel. |
Sequence (Fasta) | MWGLAGGRLF GIFSAPVLVA VVCCAQSVND PGNMSFVKET VDKLLKGYDI RLRPDFGGPP 60 VCVGMNIDIA SIDMVSEVNM DYTLTMYFQQ YWRDKRLAYS GIPLNLTLDN RVADQLWVPD 120 TYFLNDKKSF VHGVTVKNRM IRLHPDGTVL YGLRITTTAA CMMDLRRYPL DEQNCTLEIE 180 SYGYTTDDIE FYWRGGDKAV TGVERIELPQ FSIVEHRLVS RNVVFATGAY PRLSLSFRLK 240 RNIGYFILQT YMPSILITIL SWVSFWINYD ASAARVALGI TTVLTMTTIN THLRETLPKI 300 PYVKAIDMYL MGCFVFVFLA LLEYAFVNYI FFGRGPQRQK KLAEKTAKAK NDRSKSESNR 360 VDAHGNILLT SLEVHNEMNE VSGGIGDTRN SAISFDNSGI QYRKQSMPRE GHGRFLGDRS 420 LPHKKTHLRR RSSQLKIKIP DLTDVNAIDR WSRIVFPFTF SLFNLVYWLY YVN 474 |
|
Database | Annotation |
---|---|
CTD (Curated) (count: 10) (view all) | MESH:D017204
; Angelman Syndrome MESH:D000067877 ; Autism Spectrum Disorder MESH:D001321 ; Autistic Disorder MESH:D001930 ; Brain Injuries MESH:D019465 ; Craniofacial Abnormalities MESH:D004827 ; Epilepsy |
DisGeNet (Curated) (count: 38) (view all) | C0001807; Aggressive behavior
C0001973; Alcoholic Intoxication, Chronic C0004352; Autistic Disorder C0005586; Bipolar Disorder C0011570; Mental Depression C0011581; Depressive disorder |
HGMD (count: 4) | CG015537; Neurological deficits of Angelman syndrome; Gross deletions
CM021606; Chronic insomnia ?; Missense/nonsense CR066663; Epilepsy, childhood absence, association with; Regulatory CS077846; Autism, association with ?; Splicing |
GWASdb (count: 43) (view all) | rs61996546; Response to methotrexate in juvenile idiopathic arthritis; juvenile rheumatoid arthritis
rs8030011; Response to taxane treatment (placlitaxel); lung cancer rs8030011; Response to methotrexate in juvenile idiopathic arthritis; juvenile rheumatoid arthritis rs17646474; Blood pressure; hypertension rs8024723; Response to taxane treatment (placlitaxel); lung cancer rs17646555; Blood pressure; hypertension |
PTM | Modification Sites |
---|---|
Phosphorylation (count: 5) | 309 YVKAIDMYLMGCFVF dbPAF
35 VNDPGNMSFVKETVD dbPAF 40 NMSFVKETVDKLLKG dbPAF 432 KTHLRRRSSQLKIKI dbPAF 433 THLRRRSSQLKIKIP dbPAF |
Ubiquitination (count: 3) | 198 FYWRGGDKAVTGVER PLMD
43 FVKETVDKLLKGYDI PLMD 46 ETVDKLLKGYDIRLR PLMD |
Network | Interaction | ||
---|---|---|---|
A | B | Source | |