Details for: ABAT

Gene ID: 18

Symbol: ABAT

Ensembl ID: ENSG00000183044

Description: 4-aminobutyrate aminotransferase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 211.5140
    Cell Significance Index: -32.9000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 129.1577
    Cell Significance Index: -32.7600
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 75.9320
    Cell Significance Index: -31.2800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 70.1089
    Cell Significance Index: -33.1000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 66.0665
    Cell Significance Index: -26.8400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 28.1332
    Cell Significance Index: -26.8600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 26.6838
    Cell Significance Index: -32.9000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 12.0648
    Cell Significance Index: -32.3200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 10.6855
    Cell Significance Index: -32.8200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 8.3957
    Cell Significance Index: -33.1300
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 4.9712
    Cell Significance Index: -10.8800
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 2.2337
    Cell Significance Index: 27.7100
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 2.2084
    Cell Significance Index: 37.2000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 2.1775
    Cell Significance Index: 96.3200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 2.1615
    Cell Significance Index: 81.8500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 2.0804
    Cell Significance Index: 116.7400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.8343
    Cell Significance Index: 657.9200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.6887
    Cell Significance Index: 338.7500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.6141
    Cell Significance Index: 320.3300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.2768
    Cell Significance Index: 30.6200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.1968
    Cell Significance Index: 73.5600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.1750
    Cell Significance Index: 70.5400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.0096
    Cell Significance Index: 698.2800
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.8377
    Cell Significance Index: 8.9000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.7578
    Cell Significance Index: 20.3100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6711
    Cell Significance Index: 73.0000
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.6654
    Cell Significance Index: 14.5700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.5744
    Cell Significance Index: 30.1600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5544
    Cell Significance Index: 12.0100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.5456
    Cell Significance Index: 98.3600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4247
    Cell Significance Index: 22.0600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3524
    Cell Significance Index: 57.3200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3499
    Cell Significance Index: 24.2000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3252
    Cell Significance Index: 9.3700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3209
    Cell Significance Index: 39.4600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.2646
    Cell Significance Index: 3.6100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2564
    Cell Significance Index: 11.6200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2114
    Cell Significance Index: 16.2300
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 0.1642
    Cell Significance Index: 2.1300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1176
    Cell Significance Index: 11.6400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0962
    Cell Significance Index: 6.4700
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.0894
    Cell Significance Index: 1.3200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0774
    Cell Significance Index: 14.7400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0748
    Cell Significance Index: 115.1300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0739
    Cell Significance Index: 66.7200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0694
    Cell Significance Index: 1.1900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0658
    Cell Significance Index: 123.9200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0570
    Cell Significance Index: 9.7300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.0466
    Cell Significance Index: 1.3300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0461
    Cell Significance Index: 62.6200
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.0457
    Cell Significance Index: 0.6500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0378
    Cell Significance Index: 24.0000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0329
    Cell Significance Index: 60.7000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0250
    Cell Significance Index: 0.8800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0074
    Cell Significance Index: -3.3600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0127
    Cell Significance Index: -9.4300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0142
    Cell Significance Index: -7.7500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0240
    Cell Significance Index: -10.6200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0295
    Cell Significance Index: -16.6600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0302
    Cell Significance Index: -22.1300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0302
    Cell Significance Index: -18.8500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0462
    Cell Significance Index: -34.9500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0501
    Cell Significance Index: -7.2800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0859
    Cell Significance Index: -18.1000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0970
    Cell Significance Index: -27.9100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1070
    Cell Significance Index: -2.2700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1113
    Cell Significance Index: -3.1100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1152
    Cell Significance Index: -15.8200
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1320
    Cell Significance Index: -2.6100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1453
    Cell Significance Index: -16.9300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1468
    Cell Significance Index: -3.6700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1693
    Cell Significance Index: -17.2900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1846
    Cell Significance Index: -13.7600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2056
    Cell Significance Index: -2.9500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.2094
    Cell Significance Index: -24.7000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.2144
    Cell Significance Index: -27.4900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2187
    Cell Significance Index: -25.0500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2287
    Cell Significance Index: -29.5500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2341
    Cell Significance Index: -15.1100
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2492
    Cell Significance Index: -28.4500
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.2508
    Cell Significance Index: -1.5800
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2560
    Cell Significance Index: -5.1400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2607
    Cell Significance Index: -27.1500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2894
    Cell Significance Index: -22.9200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3001
    Cell Significance Index: -13.9900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.3013
    Cell Significance Index: -2.7800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3094
    Cell Significance Index: -8.1400
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.3777
    Cell Significance Index: -8.1600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3840
    Cell Significance Index: -12.3000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4151
    Cell Significance Index: -13.5900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4229
    Cell Significance Index: -25.9300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.4260
    Cell Significance Index: -30.1300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4267
    Cell Significance Index: -13.5900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.4926
    Cell Significance Index: -31.0500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.5071
    Cell Significance Index: -26.4200
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.5199
    Cell Significance Index: -8.9900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.5247
    Cell Significance Index: -24.6600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.5844
    Cell Significance Index: -12.4500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.5906
    Cell Significance Index: -8.7200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.6037
    Cell Significance Index: -20.9800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The ABAT gene exhibits several key characteristics that distinguish it from other genes: 1. **Highly expressed in GABAergic neurons**: ABAT is predominantly expressed in GABAergic neurons, including cortical interneurons, which are involved in regulating neural circuits and modulating synaptic transmission. 2. **Mitochondrial localization**: The ABAT enzyme is localized to the mitochondrial matrix, suggesting a role in energy metabolism and GABA biosynthesis. 3. **Dual function**: ABAT catalyzes both the biosynthesis and degradation of GABA, highlighting its potential role in regulating GABA levels and synaptic function. 4. **Regulation by various factors**: ABAT is regulated by multiple factors, including ethanol, hypoxia, iron ions, and xenobiotics, which may impact its activity and expression. **Pathways and Functions** The ABAT gene is involved in several key pathways and processes: 1. **GABA biosynthesis**: ABAT catalyzes the conversion of 4-aminobutyrate to succinate and glutamate, which are essential precursors for GABA synthesis. 2. **GABA degradation**: ABAT also participates in the degradation of GABA, regulating its levels and synaptic function. 3. **Neurotransmitter release cycle**: ABAT is involved in the regulation of neurotransmitter release, including GABA, dopamine, and aspartate. 4. **Mitochondrial energy metabolism**: As a mitochondrial enzyme, ABAT contributes to energy metabolism and oxidative stress regulation. 5. **Neurodevelopmental processes**: ABAT is expressed in developing neurons and plays a role in cerebellum development and neuronal system maturation. **Clinical Significance** Dysregulation of the ABAT gene has been implicated in various neurological disorders, including: 1. **Epilepsy**: Alterations in ABAT expression and activity have been linked to epilepsy, a disorder characterized by seizures and altered neuronal excitability. 2. **Mood disorders**: ABAT dysfunction has been implicated in mood disorders, such as depression and bipolar disorder, which are characterized by altered GABA levels and synaptic function. 3. **Neurodegenerative diseases**: ABAT has been identified as a potential therapeutic target for neurodegenerative diseases, such as Alzheimer's and Parkinson's, which are characterized by altered GABA and energy metabolism. 4. **Addiction**: ABAT is also involved in the regulation of dopamine release and has been implicated in addiction, particularly in the context of cocaine use disorder. In conclusion, the ABAT gene plays a critical role in regulating GABA levels, synaptic function, and energy metabolism. Its dysregulation has been implicated in various neurological disorders, highlighting the importance of this gene in understanding human brain function and disease.

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 Ensembl 3 ExpressionAtlas 1 GO 33 Gene3D 2 GeneCards 1 GeneTree 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 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 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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.