P28472

PTMD Annotation Information


※ Protein Information

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 DescriptionComponent 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

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1N-linked glycosylationChildhood absence epilepsyCN3322303015
[Reference]: We evaluated the possibility that this mutation, which is located adjacent to the most N-terminal of three 3 subunit N-glycosylation sites, might reduce GABAergic inhibition by increasing glycosylation of 3 subunits.

※ Disease Cross-ref Annotation

DatabaseAnnotation
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 Sites

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

※ Protein-Protein Interaction

NetworkInteraction
ABSource