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Protein

4-aminobutyrate aminotransferase, mitochondrial

Gene

ABAT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerate and beta-alanine.

Catalytic activityi

4-aminobutanoate + 2-oxoglutarate = succinate semialdehyde + L-glutamate.
(S)-3-amino-2-methylpropanoate + 2-oxoglutarate = 2-methyl-3-oxopropanoate + L-glutamate.

Cofactori

pyridoxal 5'-phosphateBy similarity, [2Fe-2S] clusterBy similarityNote: Binds 1 [2Fe-2S] cluster per homodimer.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi163Iron-sulfur (2Fe-2S); shared with dimeric partnerBy similarity1
Metal bindingi166Iron-sulfur (2Fe-2S); shared with dimeric partnerBy similarity1
Binding sitei220SubstrateBy similarity1
Binding sitei381Pyridoxal phosphate; shared with dimeric partnerBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionAminotransferase, Transferase
Biological processNeurotransmitter degradation
LigandIron, Iron-sulfur, Metal-binding, Pyridoxal phosphate

Enzyme and pathway databases

BioCyciMetaCyc:HS02477-MONOMER
ReactomeiR-HSA-916853 Degradation of GABA
SABIO-RKiP80404

Names & Taxonomyi

Protein namesi
Recommended name:
4-aminobutyrate aminotransferase, mitochondrial (EC:2.6.1.19)
Alternative name(s):
(S)-3-amino-2-methylpropionate transaminase (EC:2.6.1.22)
GABA aminotransferase
Short name:
GABA-AT
Gamma-amino-N-butyrate transaminase
Short name:
GABA transaminase
Short name:
GABA-T
L-AIBAT
Gene namesi
Name:ABAT
Synonyms:GABAT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000183044.11
HGNCiHGNC:23 ABAT
MIMi137150 gene
neXtProtiNX_P80404

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

GABA transaminase deficiency (GABATD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn enzymatic deficiency resulting in psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities.
See also OMIM:613163
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_008883220R → K in GABATD; 25% reduction in activity. 1 PublicationCorresponds to variant dbSNP:rs121434578EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi321C → M, S, A, G or K: Loss of activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi18
MalaCardsiABAT
MIMi613163 phenotype
OpenTargetsiENSG00000183044
Orphaneti2066 Gamma-aminobutyric acid transaminase deficiency
PharmGKBiPA24372

Chemistry databases

ChEMBLiCHEMBL2044
DrugBankiDB01699 (4e)-4-Aminohex-4-Enoic Acid
DB04235 4-Amino Hexanoic Acid
DB00160 L-Alanine
DB00142 L-Glutamic Acid
DB00780 Phenelzine
DB00114 Pyridoxal Phosphate
DB00119 Pyruvic acid
DB00313 Valproic Acid
DB01080 Vigabatrin
GuidetoPHARMACOLOGYi2464

Polymorphism and mutation databases

BioMutaiABAT
DMDMi48429239

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 28MitochondrionAdd BLAST28
ChainiPRO_000000124929 – 5004-aminobutyrate aminotransferase, mitochondrialAdd BLAST472

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei231N6-succinyllysineBy similarity1
Modified residuei252N6-acetyllysine; alternateBy similarity1
Modified residuei252N6-succinyllysine; alternateBy similarity1
Modified residuei279N6-acetyllysineBy similarity1
Modified residuei318N6-acetyllysineBy similarity1
Disulfide bondi321Interchain
Modified residuei357N6-(pyridoxal phosphate)lysineBy similarity1
Modified residuei413N6-acetyllysine; alternateBy similarity1
Modified residuei413N6-succinyllysine; alternateBy similarity1
Modified residuei452N6-acetyllysineBy similarity1
Modified residuei470N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation, Disulfide bond

Proteomic databases

EPDiP80404
PaxDbiP80404
PeptideAtlasiP80404
PRIDEiP80404

PTM databases

iPTMnetiP80404
PhosphoSitePlusiP80404
SwissPalmiP80404

Expressioni

Tissue specificityi

Liver > pancreas > brain > kidney > heart > placenta.

Gene expression databases

BgeeiENSG00000183044
CleanExiHS_ABAT
ExpressionAtlasiP80404 baseline and differential
GenevisibleiP80404 HS

Organism-specific databases

HPAiHPA041528
HPA041690

Interactioni

Subunit structurei

Homodimer; disulfide-linked.1 Publication

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB
  • succinate-semialdehyde dehydrogenase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi106536, 37 interactors
IntActiP80404, 2 interactors
MINTiP80404
STRINGi9606.ENSP00000268251

Chemistry databases

BindingDBiP80404

Structurei

3D structure databases

ProteinModelPortaliP80404
SMRiP80404
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni164 – 165Pyridoxal phosphate bindingBy similarity2

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1405 Eukaryota
COG0160 LUCA
GeneTreeiENSGT00550000074885
HOVERGENiHBG000634
InParanoidiP80404
KOiK13524
PhylomeDBiP80404
TreeFamiTF105021

Family and domain databases

CDDicd00610 OAT_like, 1 hit
Gene3Di3.40.640.10, 1 hit
3.90.1150.10, 2 hits
InterProiView protein in InterPro
IPR004631 4NH2But_aminotransferase_euk
IPR005814 Aminotrans_3
IPR015424 PyrdxlP-dep_Trfase
IPR015422 PyrdxlP-dep_Trfase_dom1
IPR015421 PyrdxlP-dep_Trfase_major
PfamiView protein in Pfam
PF00202 Aminotran_3, 1 hit
PIRSFiPIRSF000521 Transaminase_4ab_Lys_Orn, 1 hit
SUPFAMiSSF53383 SSF53383, 1 hit
TIGRFAMsiTIGR00699 GABAtrns_euk, 1 hit
PROSITEiView protein in PROSITE
PS00600 AA_TRANSFER_CLASS_3, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P80404-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MASMLLAQRL ACSFQHSYRL LVPGSRHISQ AAAKVDVEFD YDGPLMKTEV
60 70 80 90 100
PGPRSQELMK QLNIIQNAEA VHFFCNYEES RGNYLVDVDG NRMLDLYSQI
110 120 130 140 150
SSVPIGYSHP ALLKLIQQPQ NASMFVNRPA LGILPPENFV EKLRQSLLSV
160 170 180 190 200
APKGMSQLIT MACGSCSNEN ALKTIFMWYR SKERGQRGFS QEELETCMIN
210 220 230 240 250
QAPGCPDYSI LSFMGAFHGR TMGCLATTHS KAIHKIDIPS FDWPIAPFPR
260 270 280 290 300
LKYPLEEFVK ENQQEEARCL EEVEDLIVKY RKKKKTVAGI IVEPIQSEGG
310 320 330 340 350
DNHASDDFFR KLRDIARKHG CAFLVDEVQT GGGCTGKFWA HEHWGLDDPA
360 370 380 390 400
DVMTFSKKMM TGGFFHKEEF RPNAPYRIFN TWLGDPSKNL LLAEVINIIK
410 420 430 440 450
REDLLNNAAH AGKALLTGLL DLQARYPQFI SRVRGRGTFC SFDTPDDSIR
460 470 480 490 500
NKLILIARNK GVVLGGCGDK SIRFRPTLVF RDHHAHLFLN IFSDILADFK
Length:500
Mass (Da):56,439
Last modified:June 7, 2004 - v3
Checksum:iF990B0B6B77BD3F5
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti17S → T in AAA74449 (PubMed:7721088).Curated1
Sequence conflicti109H → D in AAA74449 (PubMed:7721088).Curated1
Sequence conflicti113L → V in AAA74449 (PubMed:7721088).Curated1
Sequence conflicti132G → E in AAA74449 (PubMed:7721088).Curated1
Sequence conflicti155 – 171MSQLI…SNENA → CPSSSPWPACPAPMKTT in AAB38510 (Ref. 2) CuratedAdd BLAST17
Sequence conflicti191Q → K in AAA74449 (PubMed:7721088).Curated1
Sequence conflicti204G → W in AAA74449 (PubMed:7721088).Curated1
Sequence conflicti216A → S in AAA74449 (PubMed:7721088).Curated1
Sequence conflicti247P → T in AAB38510 (Ref. 2) Curated1
Sequence conflicti268R → G in AAA74449 (PubMed:7721088).Curated1
Sequence conflicti320G → C in AAA74449 (PubMed:7721088).Curated1
Sequence conflicti366H → L in AAA74449 (PubMed:7721088).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01897956Q → R1 PublicationCorresponds to variant dbSNP:rs1731017EnsemblClinVar.1
Natural variantiVAR_008883220R → K in GABATD; 25% reduction in activity. 1 PublicationCorresponds to variant dbSNP:rs121434578EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L32961 mRNA Translation: AAA74449.1
U80226 mRNA Translation: AAB38510.1
AK290501 mRNA Translation: BAF83190.1
BC015628 mRNA Translation: AAH15628.1
BC031413 mRNA Translation: AAH31413.1
S75578 mRNA Translation: AAD14176.1
CCDSiCCDS10534.1
PIRiJC4022
S67470
RefSeqiNP_000654.2, NM_000663.4
NP_001120920.1, NM_001127448.1
NP_065737.2, NM_020686.5
XP_011520702.1, XM_011522400.2
XP_011520703.1, XM_011522401.2
UniGeneiHs.336768

Genome annotation databases

EnsembliENST00000268251; ENSP00000268251; ENSG00000183044
ENST00000396600; ENSP00000379845; ENSG00000183044
ENST00000425191; ENSP00000411916; ENSG00000183044
GeneIDi18
KEGGihsa:18

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGABT_HUMAN
AccessioniPrimary (citable) accession number: P80404
Secondary accession number(s): A8K386
, Q16260, Q8N5W2, Q96BG2, Q99800
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: June 7, 2004
Last modified: May 23, 2018
This is version 173 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

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