Details for: ABAT

Gene ID: 18

Symbol: ABAT

Ensembl ID: ENSG00000183044

Description: 4-aminobutyrate aminotransferase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.27
    Marker Score: 45161
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.2
    Marker Score: 81023.5
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 2.14
    Marker Score: 9907
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.12
    Marker Score: 31654
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.02
    Marker Score: 76766
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.98
    Marker Score: 8221
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.98
    Marker Score: 7665
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.85
    Marker Score: 14186
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.8
    Marker Score: 1993.5
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.8
    Marker Score: 16886
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.76
    Marker Score: 37469
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.71
    Marker Score: 6949
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.66
    Marker Score: 17169
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.64
    Marker Score: 101113
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 1.64
    Marker Score: 849
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.64
    Marker Score: 14068
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.63
    Marker Score: 15531
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 1.59
    Marker Score: 526
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.58
    Marker Score: 5164
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.55
    Marker Score: 9946
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.53
    Marker Score: 2363
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.53
    Marker Score: 6595
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.47
    Marker Score: 7925.5
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168766
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.4
    Marker Score: 47310.5
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.32
    Marker Score: 3106
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.3
    Marker Score: 414
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 1.28
    Marker Score: 4946
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.26
    Marker Score: 738
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.19
    Marker Score: 21184
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.18
    Marker Score: 1464
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.11
    Marker Score: 3944
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.09
    Marker Score: 458
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.07
    Marker Score: 1300
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.07
    Marker Score: 2169
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.05
    Marker Score: 16406
  • Cell Name: granule cell (CL0000120)
    Fold Change: 1.01
    Marker Score: 7594
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71781.5
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48006
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30403
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.96
    Marker Score: 538
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.96
    Marker Score: 494
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.95
    Marker Score: 448
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2409
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.93
    Marker Score: 1513
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2725
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.91
    Marker Score: 1017
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.89
    Marker Score: 5080
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.88
    Marker Score: 600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.88
    Marker Score: 1057
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 314
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.87
    Marker Score: 3631
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.87
    Marker Score: 3621
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.86
    Marker Score: 1756
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.86
    Marker Score: 4519
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.83
    Marker Score: 1391
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.82
    Marker Score: 225
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.82
    Marker Score: 315
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.82
    Marker Score: 770
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.78
    Marker Score: 596
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.78
    Marker Score: 672
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.77
    Marker Score: 447
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.76
    Marker Score: 306
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.75
    Marker Score: 220
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.74
    Marker Score: 383
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.74
    Marker Score: 486
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.74
    Marker Score: 3083.5
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.73
    Marker Score: 3925
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.73
    Marker Score: 245
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.72
    Marker Score: 477
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.72
    Marker Score: 1514
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.71
    Marker Score: 1048
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.71
    Marker Score: 948.5
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.7
    Marker Score: 496
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.7
    Marker Score: 640
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.69
    Marker Score: 542
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.68
    Marker Score: 944
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.68
    Marker Score: 321
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.67
    Marker Score: 3977.5
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.66
    Marker Score: 1615
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.65
    Marker Score: 323
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.65
    Marker Score: 699
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.65
    Marker Score: 242
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.64
    Marker Score: 204
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.64
    Marker Score: 556
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.64
    Marker Score: 2671
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.63
    Marker Score: 729
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.63
    Marker Score: 1799
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.63
    Marker Score: 658
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.62
    Marker Score: 1362.5
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.61
    Marker Score: 415
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.58
    Marker Score: 1386
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.58
    Marker Score: 618
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.57
    Marker Score: 333
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.57
    Marker Score: 115
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.56
    Marker Score: 180
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.55
    Marker Score: 3322
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.55
    Marker Score: 1265

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Other Information

**Key characteristics:** - It is a protein of the cytochrome P450 family. - It is expressed in a wide range of brain regions, including the cerebral cortex, hippocampus, and cerebellum. - It is a key enzyme in the degradation of GABA. - It is also involved in the synthesis of gaba and the reuptake of GABA into neurons. **Pathways and functions:** - The ABAT gene is involved in the (-)-3-amino-2-methylpropionate transaminase (AMPA) pathway, which is responsible for the synthesis of GABA from glutamate. - It is also involved in the degradation of gaba through the gamma-aminobutyric acid (GABA) catabolism pathway. - It is also involved in the regulation of synaptic plasticity and learning and memory. **Clinical significance:** - Mutations in the ABAT gene have been linked to autism, schizophrenia, and other neurodevelopmental disorders. - ABAT inhibitors are being investigated as potential treatments for these disorders. **Additional information:** - The ABAT gene is also involved in the regulation of blood pressure and blood sugar levels. - It is a highly conserved protein, with a similar sequence in mammals and humans. - It is a well-characterized protein that has been extensively studied in models of neurodegenerative diseases.

Genular Protein ID: 3750774859

Symbol: GABT_HUMAN

Name: 4-aminobutyrate aminotransferase, mitochondrial

UniProtKB Accession Codes:

P80404 A8K386 Q16260 Q8N5W2 Q96BG2 Q99800

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CPTAC 2 CTD 1 ChEBI 14 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 8 DrugCentral 1 EC 2 EMBL 6 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 33 Gene3D 2 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 PANTHER 2 PIR 2 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 5 Rhea 4 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7721088

Title: Screening and sequence determination of a cDNA encoding the human brain 4-aminobutyrate aminotransferase.

PubMed ID: 7721088

DOI: 10.1016/0378-1119(94)00858-p

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7851425

Title: Primary structure and tissue distribution of human 4-aminobutyrate aminotransferase.

PubMed ID: 7851425

DOI: 10.1111/j.1432-1033.1995.tb20412.x

PubMed ID: 15528998

Title: Cysteine-321 of human brain GABA transaminase is involved in intersubunit cross-linking.

PubMed ID: 15528998

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 10407778

Title: 4-aminobutyrate aminotransferase (GABA-transaminase) deficiency.

PubMed ID: 10407778

DOI: 10.1023/a:1005500122231

Sequence Information:

  • Length: 500
  • Mass: 56439
  • Checksum: F990B0B6B77BD3F5
  • Sequence:
    • MASMLLAQRL ACSFQHSYRL LVPGSRHISQ AAAKVDVEFD YDGPLMKTEV PGPRSQELMK 
QLNIIQNAEA VHFFCNYEES RGNYLVDVDG NRMLDLYSQI SSVPIGYSHP ALLKLIQQPQ 
NASMFVNRPA LGILPPENFV EKLRQSLLSV APKGMSQLIT MACGSCSNEN ALKTIFMWYR 
SKERGQRGFS QEELETCMIN QAPGCPDYSI LSFMGAFHGR TMGCLATTHS KAIHKIDIPS 
FDWPIAPFPR LKYPLEEFVK ENQQEEARCL EEVEDLIVKY RKKKKTVAGI IVEPIQSEGG 
DNHASDDFFR KLRDIARKHG CAFLVDEVQT GGGCTGKFWA HEHWGLDDPA DVMTFSKKMM 
TGGFFHKEEF RPNAPYRIFN TWLGDPSKNL LLAEVINIIK REDLLNNAAH AGKALLTGLL 
DLQARYPQFI SRVRGRGTFC SFDTPDDSIR NKLILIARNK GVVLGGCGDK SIRFRPTLVF 
RDHHAHLFLN IFSDILADFK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.