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Protein

4-aminobutyrate aminotransferase, mitochondrial

Gene

ABAT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi163Iron-sulfur (2Fe-2S); shared with dimeric partnerBy similarity1
Metal bindingi166Iron-sulfur (2Fe-2S); shared with dimeric partnerBy similarity1
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei220SubstrateBy similarity1
Binding sitei381Pyridoxal phosphate; shared with dimeric partnerBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS02477-MONOMER

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-916853 Degradation of GABA

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P80404

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ABAT
Synonyms:GABAT
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000183044.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:23 ABAT

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
137150 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P80404

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_008883220R → K in GABATD; 25% reduction in activity. 1 PublicationCorresponds to variant dbSNP:rs121434578EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi321C → M, S, A, G or K: Loss of activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
18

MalaCards human disease database

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MalaCardsi
ABAT
MIMi613163 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000183044

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
2066 Gamma-aminobutyric acid transaminase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24372

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2044

Drug and drug target database

More...
DrugBanki
DB01699 (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

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
2464

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ABAT

Domain mapping of disease mutations (DMDM)

More...
DMDMi
48429239

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 28MitochondrionAdd BLAST28
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000124929 – 5004-aminobutyrate aminotransferase, mitochondrialAdd BLAST472

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei231N6-succinyllysineBy similarity1
Modified residuei252N6-acetyllysine; alternateBy similarity1
Modified residuei252N6-succinyllysine; alternateBy similarity1
Modified residuei279N6-acetyllysineBy similarity1
Modified residuei318N6-acetyllysineBy similarity1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

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EPDi
P80404

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P80404

PeptideAtlas

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PeptideAtlasi
P80404

PRoteomics IDEntifications database

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PRIDEi
P80404

ProteomicsDB human proteome resource

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ProteomicsDBi
57683

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P80404

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P80404

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P80404

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000183044 Expressed in 228 organ(s), highest expression level in substantia nigra

CleanEx database of gene expression profiles

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CleanExi
HS_ABAT

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P80404 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P80404 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA041528
HPA041690

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer; disulfide-linked.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
106536, 38 interactors

Protein interaction database and analysis system

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IntActi
P80404, 2 interactors

Molecular INTeraction database

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MINTi
P80404

STRING: functional protein association networks

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STRINGi
9606.ENSP00000268251

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P80404

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P80404

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P80404

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni164 – 165Pyridoxal phosphate bindingBy similarity2

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1405 Eukaryota
COG0160 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00550000074885

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG000634

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P80404

KEGG Orthology (KO)

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KOi
K13524

Database for complete collections of gene phylogenies

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PhylomeDBi
P80404

TreeFam database of animal gene trees

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TreeFami
TF105021

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00610 OAT_like, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.640.10, 1 hit
3.90.1150.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR004631 4NH2But_aminotransferase_euk
IPR005814 Aminotrans_3
IPR015424 PyrdxlP-dep_Trfase
IPR015422 PyrdxlP-dep_Trfase_dom1
IPR015421 PyrdxlP-dep_Trfase_major

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00202 Aminotran_3, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF000521 Transaminase_4ab_Lys_Orn, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF53383 SSF53383, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR00699 GABAtrns_euk, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00600 AA_TRANSFER_CLASS_3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 8 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF990B0B6B77BD3F5
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BRN4H3BRN4_HUMAN
4-aminobutyrate aminotransferase, m...
ABAT
515Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BNQ7H3BNQ7_HUMAN
4-aminobutyrate aminotransferase, m...
ABAT
515Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BPW8H3BPW8_HUMAN
4-aminobutyrate aminotransferase, m...
ABAT
117Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BRT1H3BRT1_HUMAN
4-aminobutyrate aminotransferase, m...
ABAT
95Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BMJ9H3BMJ9_HUMAN
4-aminobutyrate aminotransferase, m...
ABAT
91Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BRJ1H3BRJ1_HUMAN
4-aminobutyrate aminotransferase, m...
ABAT
65Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BP84H3BP84_HUMAN
4-aminobutyrate aminotransferase, m...
ABAT
53Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BP74H3BP74_HUMAN
4-aminobutyrate aminotransferase, m...
ABAT
31Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS10534.1

Protein sequence database of the Protein Information Resource

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PIRi
JC4022
S67470

NCBI Reference Sequences

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RefSeqi
NP_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

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.336768

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000268251; ENSP00000268251; ENSG00000183044
ENST00000396600; ENSP00000379845; ENSG00000183044
ENST00000425191; ENSP00000411916; ENSG00000183044

Database of genes from NCBI RefSeq genomes

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GeneIDi
18

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:18

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

SHMPD

The Singapore human mutation and polymorphism database

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

3D structure databases

ProteinModelPortaliP80404
SMRiP80404
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106536, 38 interactors
IntActiP80404, 2 interactors
MINTiP80404
STRINGi9606.ENSP00000268251

Chemistry databases

BindingDBiP80404
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

PTM databases

iPTMnetiP80404
PhosphoSitePlusiP80404
SwissPalmiP80404

Polymorphism and mutation databases

BioMutaiABAT
DMDMi48429239

Proteomic databases

EPDiP80404
PaxDbiP80404
PeptideAtlasiP80404
PRIDEiP80404
ProteomicsDBi57683

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
18
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
18
DisGeNETi18
EuPathDBiHostDB:ENSG00000183044.11

GeneCards: human genes, protein and diseases

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GeneCardsi
ABAT
HGNCiHGNC:23 ABAT
HPAiHPA041528
HPA041690
MalaCardsiABAT
MIMi137150 gene
613163 phenotype
neXtProtiNX_P80404
OpenTargetsiENSG00000183044
Orphaneti2066 Gamma-aminobutyric acid transaminase deficiency
PharmGKBiPA24372

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1405 Eukaryota
COG0160 LUCA
GeneTreeiENSGT00550000074885
HOVERGENiHBG000634
InParanoidiP80404
KOiK13524
PhylomeDBiP80404
TreeFamiTF105021

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ABAT human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
18

Protein Ontology

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PROi
PR:P80404

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000183044 Expressed in 228 organ(s), highest expression level in substantia nigra
CleanExiHS_ABAT
ExpressionAtlasiP80404 baseline and differential
GenevisibleiP80404 HS

Family and domain databases

CDDicd00610 OAT_like, 1 hit
Gene3Di3.40.640.10, 1 hit
3.90.1150.10, 1 hit
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGABT_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P80404
Secondary accession number(s): A8K386
, Q16260, Q8N5W2, Q96BG2, Q99800
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: June 7, 2004
Last modified: December 5, 2018
This is version 178 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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