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ABAT 4-aminobutyrate aminotransferase [ Homo sapiens (human) ]

Gene ID: 18, updated on 3-Apr-2024

Summary

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Official Symbol
ABATprovided by HGNC
Official Full Name
4-aminobutyrate aminotransferaseprovided by HGNC
Primary source
HGNC:HGNC:23
See related
Ensembl:ENSG00000183044 MIM:137150; AllianceGenome:HGNC:23
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GABAT; NPD009; GABA-AT
Summary
4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Biased expression in liver (RPKM 93.2), kidney (RPKM 61.6) and 11 other tissues See more
Orthologs
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Genomic context

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Location:
16p13.2
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (8674617..8784570)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (8707289..8817330)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (8768474..8878427)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene transmembrane protein 114 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:8602648-8603380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10352 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:8733020-8733520 Neighboring gene methyltransferase 22, Kin17 lysine Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:8767471-8767972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:8767973-8768472 Neighboring gene RNA, 7SL, cytoplasmic 743, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:8813960-8814460 Neighboring gene RNA, U7 small nuclear 63 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr16:8821022-8821250 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:8825911-8826496 Neighboring gene uncharacterized LOC107984840 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:8845208-8845952 Neighboring gene uncharacterized LOC124903642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7177 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:8891090-8891784 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:8891785-8892479 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7178 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7179 Neighboring gene transmembrane protein 186 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7180 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:8923335-8923936 Neighboring gene phosphomannomutase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:8929774-8930308 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:8930309-8930841 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:8940347-8940938

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Exploring the Genetic Association of the ABAT Gene with Alzheimer's Disease. Zheng Q, et al. Mol Neurobiol, 2021 May. PMID 33404980
  2. Gamma-aminobutyric acid transaminase genetic polymorphism is a candidate locus for responsiveness to opioid analgesics in patients with cancer pain: An exploratory study. Yokoshima Y, et al. Neuropsychopharmacol Rep, 2018 Dec. PMID 30277654, Free PMC Article
  3. Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. Parviz M, et al. J Pediatr Epilepsy, 2014 Nov 25. PMID 25485164, Free PMC Article
  4. Variants within the GABA transaminase (ABAT) gene region are associated with somatosensory evoked EEG potentials in families at high risk for affective disorders. Wegerer M, et al. Psychol Med, 2013 Jun. PMID 22225676
  5. A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. Tsuji M, et al. J Inherit Metab Dis, 2010 Feb. PMID 20052547, Free PMC Article

See all (55) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A crucial exosome-related gene pair (AAMP and ABAT) is associated with inflammatory cells in intervertebral disc degeneration.
    Title: A crucial exosome-related gene pair (AAMP and ABAT) is associated with inflammatory cells in intervertebral disc degeneration.
  2. Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on plasma concentration of valproic acid in Chinese epilepsy patients.
    Title: Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on plasma concentration of valproic acid in Chinese epilepsy patients.
  3. Exploring the Genetic Association of the ABAT Gene with Alzheimer's Disease.
    Title: Exploring the Genetic Association of the ABAT Gene with Alzheimer's Disease.
  4. ABAT SNP rs1641025 is a potential candidate locus for responsiveness to opioid analgesics in patients with cancer pain.
    Title: Gamma-aminobutyric acid transaminase genetic polymorphism is a candidate locus for responsiveness to opioid analgesics in patients with cancer pain: An exploratory study.
  5. This study utilized ER+ IBC to identify a metagene including ABAT and STC2 as predictive biomarkers for endocrine therapy resistance.
    Title: Decreased expression of ABAT and STC2 hallmarks ER-positive inflammatory breast cancer and endocrine therapy resistance in advanced disease.
  6. A-to-G transition at nucleotide 754 of the human ABAT gene identified in lymphoblast cDNA (c.754A>G) results in substitution of an invariant arginine at amino acid 220 by lysine (p.Arg220Lys). This point mutation results in destabilization of the binding of pyridoxal-5'-phosphate to GABA-transaminase (required for transamination of GABA to succinic semialdehyde) and thus results in GABA-transaminase deficiency.
    Title: Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.
  7. Findings point to a possible role of ABAT gene-regulated GABA catabolism for an altered processing of somatosensory stimuli as a potential vulnerability marker for affective disorders.
    Title: Variants within the GABA transaminase (ABAT) gene region are associated with somatosensory evoked EEG potentials in families at high risk for affective disorders.
  8. direct involvement of ABAT in pathways affecting lower esophageal sphincter (LES) control in gastro esophageal reflux disease
    Title: 4-aminobutyrate aminotransferase (ABAT): genetic and pharmacological evidence for an involvement in gastro esophageal reflux disease.
  9. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Common variants conferring risk of schizophrenia: a pathway analysis of GWAS data.
  10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of proneness to anger.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ17813, FLJ30272

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables (S)-3-amino-2-methylpropionate transaminase activity IEA
Inferred from Electronic Annotation
more info
  
contributes_to 4-aminobutyrate transaminase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables 4-aminobutyrate:2-oxoglutarate transaminase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables iron-sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables pyridoxal phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables pyridoxal phosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables succinate-semialdehyde dehydrogenase binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in behavioral response to cocaine ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cerebellum development IEA
Inferred from Electronic Annotation
more info
  
involved_in copulation IEA
Inferred from Electronic Annotation
more info
  
involved_in exploration behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in gamma-aminobutyric acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in gamma-aminobutyric acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in gamma-aminobutyric acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in locomotory behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of blood pressure IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of dopamine secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of gamma-aminobutyric acid secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of aspartate secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of dopamine metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of heat generation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of inhibitory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of prolactin secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of uterine smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
  
involved_in response to ethanol IEA
Inferred from Electronic Annotation
more info
  
involved_in response to hypoxia IEA
Inferred from Electronic Annotation
more info
  
involved_in response to iron ion IEA
Inferred from Electronic Annotation
more info
  
involved_in response to nicotine IEA
Inferred from Electronic Annotation
more info
  
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of 4-aminobutyrate transaminase complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
4-aminobutyrate aminotransferase, mitochondrial
Names
(S)-3-amino-2-methylpropionate transaminase
4-aminobutyrate transaminase
GABA aminotransferase
GABA transaminase
GABA transferase
gamma-amino-N-butyrate transaminase
gamma-aminobutyrate aminotransferase
NP_000654.2
NP_001120920.1
NP_001373529.1
NP_001373530.1
NP_001373531.1
NP_001373532.1
NP_001373533.1
NP_001373534.1
NP_001373535.1
NP_001373536.1
NP_001373537.1
NP_001373538.1
NP_001373539.1
NP_001373540.1
NP_001373541.1
NP_001373542.1
NP_001373543.1
NP_001373544.1
NP_001373545.1
NP_065737.2
XP_047289641.1
XP_047289642.1
XP_047289643.1
XP_047289644.1
XP_054235700.1
XP_054235701.1
XP_054235702.1
XP_054235703.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008432.1 RefSeqGene

    Range
    5031..114984
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000663.5 → NP_000654.2  4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_000654.2

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Consensus CDS
    CCDS10534.1
    UniProtKB/Swiss-Prot
    A8K386, P80404, Q16260, Q8N5W2, Q96BG2, Q99800
    UniProtKB/TrEMBL
    H3BRN4, X5D8S1
    Related
    ENSP00000379845.2, ENST00000396600.6
    Conserved Domains (1) summary
    TIGR00699
    Location:34 → 496
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type

  2. NM_001127448.2 → NP_001120920.1  4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_001120920.1

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173, AK290501, BC015628
    Consensus CDS
    CCDS10534.1
    UniProtKB/Swiss-Prot
    A8K386, P80404, Q16260, Q8N5W2, Q96BG2, Q99800
    UniProtKB/TrEMBL
    H3BRN4, X5D8S1
    Related
    ENSP00000411916.2, ENST00000425191.6
    Conserved Domains (1) summary
    TIGR00699
    Location:34 → 496
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type

  3. NM_001386600.1 → NP_001373529.1  4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Consensus CDS
    CCDS10534.1
    UniProtKB/Swiss-Prot
    A8K386, P80404, Q16260, Q8N5W2, Q96BG2, Q99800
    UniProtKB/TrEMBL
    H3BRN4, X5D8S1
    Conserved Domains (1) summary
    TIGR00699
    Location:34 → 496
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type

  4. NM_001386601.1 → NP_001373530.1  4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Consensus CDS
    CCDS10534.1
    UniProtKB/Swiss-Prot
    A8K386, P80404, Q16260, Q8N5W2, Q96BG2, Q99800
    UniProtKB/TrEMBL
    H3BRN4, X5D8S1
    Conserved Domains (1) summary
    TIGR00699
    Location:34 → 496
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type

  5. NM_001386602.1 → NP_001373531.1  4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Consensus CDS
    CCDS10534.1
    UniProtKB/Swiss-Prot
    A8K386, P80404, Q16260, Q8N5W2, Q96BG2, Q99800
    UniProtKB/TrEMBL
    H3BRN4, X5D8S1
    Conserved Domains (1) summary
    TIGR00699
    Location:34 → 496
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type

  6. NM_001386603.1 → NP_001373532.1  4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Consensus CDS
    CCDS10534.1
    UniProtKB/Swiss-Prot
    A8K386, P80404, Q16260, Q8N5W2, Q96BG2, Q99800
    UniProtKB/TrEMBL
    H3BRN4, X5D8S1
    Conserved Domains (1) summary
    TIGR00699
    Location:34 → 496
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type

  7. NM_001386604.1 → NP_001373533.1  4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Consensus CDS
    CCDS10534.1
    UniProtKB/Swiss-Prot
    A8K386, P80404, Q16260, Q8N5W2, Q96BG2, Q99800
    UniProtKB/TrEMBL
    H3BRN4, X5D8S1
    Conserved Domains (1) summary
    TIGR00699
    Location:34 → 496
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type

  8. NM_001386605.1 → NP_001373534.1  4-aminobutyrate aminotransferase, mitochondrial isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    UniProtKB/TrEMBL
    H3BRN4
    Conserved Domains (1) summary
    TIGR00699
    Location:34 → 483
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type

  9. NM_001386606.1 → NP_001373535.1  4-aminobutyrate aminotransferase, mitochondrial isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    UniProtKB/TrEMBL
    H3BRN4
    Conserved Domains (1) summary
    TIGR00699
    Location:34 → 475
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type

  10. NM_001386607.1 → NP_001373536.1  4-aminobutyrate aminotransferase, mitochondrial isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    UniProtKB/TrEMBL
    H3BRN4
    Conserved Domains (1) summary
    TIGR00699
    Location:34 → 475
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type

  11. NM_001386608.1 → NP_001373537.1  4-aminobutyrate aminotransferase, mitochondrial isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    UniProtKB/TrEMBL
    H3BRN4
    Conserved Domains (1) summary
    cl18945
    Location:34 → 465
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...

  12. NM_001386609.1 → NP_001373538.1  4-aminobutyrate aminotransferase, mitochondrial isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    UniProtKB/TrEMBL
    H3BRN4
    Conserved Domains (1) summary
    cl18945
    Location:34 → 423
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...

  13. NM_001386610.1 → NP_001373539.1  4-aminobutyrate aminotransferase, mitochondrial isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    UniProtKB/TrEMBL
    H3BRN4
    Conserved Domains (1) summary
    cl18945
    Location:25 → 451
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...

  14. NM_001386611.1 → NP_001373540.1  4-aminobutyrate aminotransferase, mitochondrial isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    UniProtKB/TrEMBL
    H3BRN4
    Conserved Domains (1) summary
    TIGR00699
    Location:1 → 451
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type

  15. NM_001386612.1 → NP_001373541.1  4-aminobutyrate aminotransferase, mitochondrial isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    UniProtKB/TrEMBL
    H3BRN4
    Conserved Domains (1) summary
    cl18945
    Location:1 → 430
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...

  16. NM_001386613.1 → NP_001373542.1  4-aminobutyrate aminotransferase, mitochondrial isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    UniProtKB/TrEMBL
    H3BRN4
    Conserved Domains (1) summary
    cl18945
    Location:1 → 430
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...

  17. NM_001386614.1 → NP_001373543.1  4-aminobutyrate aminotransferase, mitochondrial isoform 9 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    UniProtKB/TrEMBL
    H3BRN4
    Conserved Domains (1) summary
    cl18945
    Location:24 → 414
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...

  18. NM_001386615.1 → NP_001373544.1  4-aminobutyrate aminotransferase, mitochondrial isoform 10 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    UniProtKB/TrEMBL
    H3BRN4
    Conserved Domains (1) summary
    TIGR00699
    Location:34 → 528
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type

  19. NM_001386616.1 → NP_001373545.1  4-aminobutyrate aminotransferase, mitochondrial isoform 11 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Consensus CDS
    CCDS92104.1
    UniProtKB/TrEMBL
    H3BNQ7, H3BRN4
    Related
    ENSP00000454963.1, ENST00000569156.5
    Conserved Domains (1) summary
    cl18945
    Location:34 → 460
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...

  20. NM_020686.6 → NP_065737.2  4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_065737.2

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173, BC015628, DB443567
    Consensus CDS
    CCDS10534.1
    UniProtKB/Swiss-Prot
    A8K386, P80404, Q16260, Q8N5W2, Q96BG2, Q99800
    UniProtKB/TrEMBL
    H3BRN4, X5D8S1
    Related
    ENSP00000268251.8, ENST00000268251.13
    Conserved Domains (1) summary
    TIGR00699
    Location:34 → 496
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    8674617..8784570
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047433688.1 → XP_047289644.1  4-aminobutyrate aminotransferase, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    A8K386, P80404, Q16260, Q8N5W2, Q96BG2, Q99800
    UniProtKB/TrEMBL
    X5D8S1

  2. XM_047433687.1 → XP_047289643.1  4-aminobutyrate aminotransferase, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    A8K386, P80404, Q16260, Q8N5W2, Q96BG2, Q99800
    UniProtKB/TrEMBL
    X5D8S1

  3. XM_047433685.1 → XP_047289641.1  4-aminobutyrate aminotransferase, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    A8K386, P80404, Q16260, Q8N5W2, Q96BG2, Q99800
    UniProtKB/TrEMBL
    X5D8S1

  4. XM_047433686.1 → XP_047289642.1  4-aminobutyrate aminotransferase, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    A8K386, P80404, Q16260, Q8N5W2, Q96BG2, Q99800
    UniProtKB/TrEMBL
    X5D8S1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    8707289..8817330
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379728.1 → XP_054235703.1  4-aminobutyrate aminotransferase, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    A8K386, P80404, Q16260, Q8N5W2, Q96BG2, Q99800
    UniProtKB/TrEMBL
    X5D8S1

  2. XM_054379727.1 → XP_054235702.1  4-aminobutyrate aminotransferase, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    A8K386, P80404, Q16260, Q8N5W2, Q96BG2, Q99800
    UniProtKB/TrEMBL
    X5D8S1

  3. XM_054379725.1 → XP_054235700.1  4-aminobutyrate aminotransferase, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    A8K386, P80404, Q16260, Q8N5W2, Q96BG2, Q99800
    UniProtKB/TrEMBL
    X5D8S1

  4. XM_054379726.1 → XP_054235701.1  4-aminobutyrate aminotransferase, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    A8K386, P80404, Q16260, Q8N5W2, Q96BG2, Q99800
    UniProtKB/TrEMBL
    X5D8S1
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P80404.3 GenPept UniProtKB/Swiss-Prot:P80404

Gene LinkOut

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