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Abat Gene Detail
Summary
  • Symbol
    Abat
  • Name
    4-aminobutyrate aminotransferase
  • Synonyms
    9630038C02Rik, GABA-T
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443582
    NCBI Gene: 268860
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:8331293-8439432 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 4.06 cM, cytoband A3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3298 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2443582
 protein coding gene Chr16:8331293-8439432 (+)
129S1/SvImJ MGP_129S1SvImJ_G0022493
 protein coding gene Chr16:5171768-5285918 (+)
A/J MGP_AJ_G0022455
 protein coding gene Chr16:4862018-4976277 (+)
AKR/J MGP_AKRJ_G0022432
 protein coding gene Chr16:5144302-5251339 (+)
BALB/cJ MGP_BALBcJ_G0022460
 protein coding gene Chr16:5030026-5146914 (+)
C3H/HeJ MGP_C3HHeJ_G0022227
 protein coding gene Chr16:5174448-5289590 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022909
 protein coding gene Chr16:5314101-5436231 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020430
 protein coding gene Chr16:5072389-5177052 (+)
CAST/EiJ MGP_CASTEiJ_G0021753
 protein coding gene Chr16:5198476-5309651 (+)
CBA/J MGP_CBAJ_G0022196
 protein coding gene Chr16:5521510-5640888 (+)
DBA/2J MGP_DBA2J_G0022327
 protein coding gene Chr16:4915837-5023390 (+)
FVB/NJ MGP_FVBNJ_G0022302
 protein coding gene Chr16:4897802-5004167 (+)
LP/J MGP_LPJ_G0022395
 protein coding gene Chr16:5144918-5261482 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022324
 protein coding gene Chr16:5321710-5435000 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022921
 protein coding gene Chr16:5089782-5201749 (+)
PWK/PhJ MGP_PWKPhJ_G0021493
 protein coding gene Chr16:5082615-5194013 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021324
 protein coding gene Chr16:5137954-5257410 (+)
WSB/EiJ MGP_WSBEiJ_G0021802
 protein coding gene Chr16:5123442-5239062 (+)



Homology
more
  • Human Ortholog
    ABAT, 4-aminobutyrate aminotransferase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ABAT, 4-aminobutyrate aminotransferase
  • Synonyms
    GABA-AT, GABAT, NPD009
  • Links
    NCBI Gene ID: 18
    neXtProt AC: NX_P80404
    UniProt: P80404

  • Chr Location
    16p13.2; chr16:8674596-8784575 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with human ABAT associations

Human Disease Mouse Models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 2 alleles in 2 genetic backgrounds
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice with loss of expression in T cells show T cell differentiation abnormalities in vitro and decreased susceptibility to experimental autoimmune encephalomyelitis.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    64
  • GO References
    12
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    1057
  • Tissues
    122
  • cDNA Data
    123
  • Literature Summary
    7
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 268860 NCBI Gene Model | MGI Sequence Detail 108140 C57BL/6J ±  kb
transcript NM_172961 RefSeq | MGI Sequence Detail 4653 C57BL/6  
polypeptide P61922 UniProt | EBI | MGI Sequence Detail 500 Not Applicable  
For the selected sequence
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000003536 4-aminobutyrate aminotransferase, mitochondrial
    (term hierarchy)
  • EC
    2.6.1.19, 2.6.1.22
  • InterPro Domains
    IPR004631 4-aminobutyrate aminotransferase, eukaryotic
    IPR005814 Aminotransferase class-III
    IPR049704 Aminotransferases class-III pyridoxal-phosphate attachment site
    IPR015424 Pyridoxal phosphate-dependent transferase
    IPR015421 Pyridoxal phosphate-dependent transferase, major domain
    IPR015422 Pyridoxal phosphate-dependent transferase, small domain
  • GlyGen
    P61922 1 site, 1 O-linked glycan (1 site)
Molecular
Reagents
less
  • All nucleic 124
    cDNA 123
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
less
MGI:1930903, MGI:2146392
References
more
  • Summaries
    All 55
    Developmental Gene Expression 7
    Gene Ontology 12
    Phenotypes 13
  • Earliest
    J:15086 Kato K, A collection of cDNA clones with specific expression patterns in mouse brain. Eur J Neurosci. 1990;2(8):704-11
  • Latest
    J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory