4-aminobutyrate aminotransferase, mitochondrial precursor

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Reviewed, UniProtKB/Swiss-Prot P80404 (GABT_HUMAN)

Last modified July 22, 2008. Version 80. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
    4-aminobutyrate aminotransferase, mitochondrial
    EC=2.6.1.19
Alternative name(s):
    Gamma-amino-N-butyrate transaminase
      Short name=GABA transaminase
      Short name=GABA-T
    GABA aminotransferase
      Short name=GABA-AT
    L-AIBAT
    (S)-3-amino-2-methylpropionate transaminase
    EC=2.6.1.22

Gene names

Name:	ABAT
Synonyms:	GABAT

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	500 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Function	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 activity	4-aminobutanoate + 2-oxoglutarate = succinate semialdehyde + L-glutamate. (S)-3-amino-2-methylpropanoate + 2-oxoglutarate = 2-methyl-3-oxopropanoate + L-glutamate.
Cofactor	Pyridoxal phosphate.
Subunit structure	Homodimer By similarity.
Subcellular location	Mitochondrion matrix.
Tissue specificity	Liver > pancreas > brain > kidney > heart > placenta.
Involvement in disease	Defects in ABAT are a cause of GABA-AT deficiency [MIM:137150]. The phenotype of this deficiency includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities.
Sequence similarities	Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.

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Ontologies

Keywords
Biological process	Neurotransmitter degradation
Cellular component	Mitochondrion
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Transit peptide
Ligand	Pyridoxal phosphate
Molecular function	Aminotransferase Transferase
PTM	Acetylation
Technical term	Direct protein sequencing
Gene Ontology (GO)
Biological process	behavioral response to cocaine Inferred from sequence or structural similarity. Source: UniProtKB gamma-aminobutyric acid catabolic process Non-traceable author statement. Source: UniProtKB neurotransmitter catabolic process Non-traceable author statement. Source: UniProtKB
Cellular component	4-aminobutyrate transaminase complex Inferred from direct assay. Source: UniProtKB mitochondrion Inferred from sequence or structural similarity. Source: UniProtKB
Molecular function	protein homodimerization activity Inferred from physical interaction. Source: UniProtKB pyridoxal phosphate binding Inferred from direct assay. Source: UniProtKB succinate-semialdehyde dehydrogenase binding Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Molecule processing

Transit peptide

1 – 28

Mitochondrion

Chain

29 – 500

472

4-aminobutyrate aminotransferase, mitochondrial

Sites

Binding site

357

Pyridoxal phosphate (covalent)

Amino acid modifications

Modified residue

318

N6-acetyllysine By similarity

Natural variations

Natural variant

Q → R: dbSNP rs1731017.

Natural variant

220

R → K in GABA-AT deficiency; 25% reduction in activity.

Experimental info

Sequence conflict

S → T in AAA74449. Ref.1

Sequence conflict

109

H → D in AAA74449. Ref.1

Sequence conflict

113

L → V in AAA74449. Ref.1

Sequence conflict

132

G → E in AAA74449. Ref.1

Sequence conflict

155 – 171

MSQLI…SNENA → CPSSSPWPACPAPMKTT in AAB38510. Ref.2

Sequence conflict

191

Q → K in AAA74449. Ref.1

Sequence conflict

204

G → W in AAA74449. Ref.1

Sequence conflict

216

A → S in AAA74449. Ref.1

Sequence conflict

247

P → T in AAB38510. Ref.2

Sequence conflict

268

R → G in AAA74449. Ref.1

Sequence conflict

320

G → C in AAA74449. Ref.1

Sequence conflict

366

H → L in AAA74449. Ref.1

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Sequences

Sequence

Length

Mass (Da)

Tools

P80404-1 [UniParc].

Last modified June 7, 2004. Version 3.
Checksum: F990B0B6B77BD3F5
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FASTA

500

56,439

        10         20         30         40         50         60 
MASMLLAQRL ACSFQHSYRL LVPGSRHISQ AAAKVDVEFD YDGPLMKTEV PGPRSQELMK 

        70         80         90        100        110        120 
QLNIIQNAEA VHFFCNYEES RGNYLVDVDG NRMLDLYSQI SSVPIGYSHP ALLKLIQQPQ 

       130        140        150        160        170        180 
NASMFVNRPA LGILPPENFV EKLRQSLLSV APKGMSQLIT MACGSCSNEN ALKTIFMWYR 

       190        200        210        220        230        240 
SKERGQRGFS QEELETCMIN QAPGCPDYSI LSFMGAFHGR TMGCLATTHS KAIHKIDIPS 

       250        260        270        280        290        300 
FDWPIAPFPR LKYPLEEFVK ENQQEEARCL EEVEDLIVKY RKKKKTVAGI IVEPIQSEGG 

       310        320        330        340        350        360 
DNHASDDFFR KLRDIARKHG CAFLVDEVQT GGGCTGKFWA HEHWGLDDPA DVMTFSKKMM 

       370        380        390        400        410        420 
TGGFFHKEEF RPNAPYRIFN TWLGDPSKNL LLAEVINIIK REDLLNNAAH AGKALLTGLL 

       430        440        450        460        470        480 
DLQARYPQFI SRVRGRGTFC SFDTPDDSIR NKLILIARNK GVVLGGCGDK SIRFRPTLVF 

       490        500 
RDHHAHLFLN IFSDILADFK

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Screening and sequence determination of a cDNA encoding the human brain 4-aminobutyrate aminotransferase." Osei Y.D., Churchich J.E. Gene 155:185-187(1995) [PubMed: 7721088] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Brain.
[2]	Medina-Kauwe L.K., Gibson K.M., Nyhan W.L., Tobin A.J. Submitted (NOV-1996) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Pancreatic islet.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ARG-56. Tissue: Brain and Eye.
[4]	"Primary structure and tissue distribution of human 4-aminobutyrate aminotransferase." de Biase D., Barra D., Simmaco M., John R.A., Bossa F. Eur. J. Biochem. 227:476-480(1995) [PubMed: 7851425] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 36-485, PARTIAL PROTEIN SEQUENCE. Tissue: Liver.
[5]	"4-aminobutyrate aminotransferase (GABA-transaminase) deficiency." Medina-Kauwe L.K., Tobin A.J., De Meirleir L., Jaeken J., Jakobs C., Nyhan W.L., Gibson K.M. J. Inherit. Metab. Dis. 22:414-427(1999) [PubMed: 10407778] [Abstract] Cited for: VARIANT LYS-220.
+	Additional computationally mapped references.

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Web resources

GeneReviews

SHMPD

The Singapore human mutation and polymorphism database

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Cross-references

Sequence databases
	L32961 mRNA. Translation: AAA74449.1. U80226 mRNA. Translation: AAB38510.1. BC015628 mRNA. Translation: AAH15628.1. BC031413 mRNA. Translation: AAH31413.1. S75578 mRNA. Translation: AAD14176.1.
PIR	JC4022. S67470.
RefSeq	NP_000654.2. NP_001120920.1. NP_065737.2.
UniGene	Hs.336768 Hs.657401
3D structure databases
HSSP	HSSP built from PDB template 1GTX based on UniProtKB P80147.
SMR	P80404. Positions 39-499.
ModBase	Search...
PTM databases
PhosphoSite	P80404.
Proteomic databases
PeptideAtlas	P80404.
Genome annotation databases
Ensembl	ENSG00000183044. Homo sapiens. [Contig view]
GeneID	18.
KEGG	hsa:18.
Organism-specific databases
H-InvDB	HIX0012805. HIX0079770.
HGNC	HGNC:23. ABAT.
MIM	137150. gene+phenotype.
Orphanet	2066. Gamma aminobutyric acid transaminase deficiency.
PharmGKB	PA24372.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	P80404.
HOVERGEN	P80404.
Enzyme and pathway databases
BioCyc	MetaCyc:MON-11538.
Gene expression databases
ArrayExpress	P80404.
CleanEx	HS_ABAT.
Family and domain databases
InterPro	IPR004631. 4NH2But_aminotransferase_euk. IPR005814. Aminotrans_3. IPR015421. PyrdxlP-dep_Trfase_major_sub1. [Graphical view]
Gene3D	G3DSA:3.40.640.10. PyrdxlP-dep_Trfase_major_sub1. 1 hit.
PANTHER	PTHR11986. Aminotrans_3. 1 hit. PTHR11986:SF6. GABAtrns_euk. 1 hit.
Pfam	PF00202. Aminotran_3. 1 hit. [Graphical view]
TIGRFAMs	TIGR00699. GABAtrns_euk. 1 hit.
PROSITE	PS00600. AA_TRANSFER_CLASS_3. 1 hit. [Graphical view]
ProDom	P80404. [Graphical view] [Entries sharing at least one domain]
BLOCKS	Search...
Other Resources
DrugBank	DB00510. Divalproex sodium. DB00951. Isoniazid. DB00160. L-Alanine. DB00142. L-Glutamic Acid. DB00114. Pyridoxal Phosphate. DB00119. Pyruvic acid. DB00906. Tiagabine. DB00313. Valproic Acid. DB01080. Vigabatrin.
SOURCE	Search...
ProtoNet	Search...

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Entry information

Entry name

GABT_HUMAN

Accession

Primary (citable) accession number: P80404
Secondary accession number(s): Q16260

Q99800

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1995
Last sequence update:	June 7, 2004
Last modified:	July 22, 2008
This is version 80 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

UniProtKB secondary accession numbers

Index of UniProtKB secondary accession numbers

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Keywords

Gene Ontology (GO)

Sequence annotation (Features)

Molecule processing

Sites

Amino acid modifications

Natural variations

Experimental info

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

PTM databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents