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

    Gene ID: 18, updated on 27-Nov-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
    mouse all
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    Genomic context

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    See ABAT in Genome Data Viewer
    Location:
    16p13.2
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (8674617..8784570)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (8707289..8817330)
    RS_2024_09 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 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. Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. Parviz M, et al. J Pediatr Epilepsy, 2014 Nov 25. PMID 25485164, Free PMC Article
    2. Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism. Jaeken J, et al. Neuropediatrics, 1984 Aug. PMID 6148708
    3. The biochemical genetics of human gamma-aminobutyric acid transaminase. Jeremiah S, et al. Ann Hum Genet, 1981 Jul. PMID 7305280
    4. Screening and sequence determination of a cDNA encoding the human brain 4-aminobutyrate aminotransferase. Osei YD, et al. Gene, 1995 Apr 3. PMID 7721088
    5. Primary structure and tissue distribution of human 4-aminobutyrate aminotransferase. De Biase D, et al. Eur J Biochem, 1995 Jan 15. PMID 7851425

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ABAT targeted by miR-183-5p regulates cell functions in liver cancer.
      Title: ABAT targeted by miR-183-5p regulates cell functions in liver cancer.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    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)

    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:2-oxoglutarate 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 IEA
    Inferred from Electronic Annotation
    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 nervous system process ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    located_in mitochondrion HTP PubMed 
    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_2024_08

    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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