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: skeletal muscle satellite stem cell (CL0008011)
    CSI Score: 11.1
  • Cell Name: type B pancreatic cell (CL0000169)
    CSI Score: 7.8
  • Cell Name: hepatocyte (CL0000182)
    CSI Score: 7.0
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    CSI Score: 7.0
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    CSI Score: 6.4
  • Cell Name: conjunctival epithelial cell (CL1000432)
    CSI Score: 6.2
  • Cell Name: astrocyte (CL0000127)
    CSI Score: 5.9
  • Cell Name: amacrine cell (CL0000561)
    CSI Score: 5.8
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    CSI Score: 5.6
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    CSI Score: 5.5
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    CSI Score: 5.3
  • Cell Name: GABAergic neuron (CL0000617)
    CSI Score: 5.2
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    CSI Score: 5.1
  • Cell Name: pancreatic acinar cell (CL0002064)
    CSI Score: 4.9
  • Cell Name: corneal epithelial cell (CL0000575)
    CSI Score: 4.8
  • Cell Name: macroglial cell (CL0000126)
    CSI Score: 4.7
  • Cell Name: glutamatergic neuron (CL0000679)
    CSI Score: 4.7
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    CSI Score: 4.6
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    CSI Score: 4.5
  • Cell Name: oligodendrocyte (CL0000128)
    CSI Score: 4.4
  • Cell Name: inhibitory interneuron (CL0000498)
    CSI Score: 4.4
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    CSI Score: 4.4
  • Cell Name: pancreatic A cell (CL0000171)
    CSI Score: 4.3
  • Cell Name: Mueller cell (CL0000636)
    CSI Score: 4.3
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    CSI Score: 4.2
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    CSI Score: 4.0
  • Cell Name: lung ciliated cell (CL1000271)
    CSI Score: 4.0
  • Cell Name: retinal ganglion cell (CL0000740)
    CSI Score: 3.9
  • Cell Name: forebrain radial glial cell (CL0013000)
    CSI Score: 3.8
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    CSI Score: 3.8
  • Cell Name: OFF-bipolar cell (CL0000750)
    CSI Score: 3.8
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    CSI Score: 3.7
  • Cell Name: neuron (CL0000540)
    CSI Score: 3.3
  • Cell Name: ON-bipolar cell (CL0000749)
    CSI Score: 3.3
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    CSI Score: 3.2
  • Cell Name: peripheral nervous system neuron (CL2000032)
    CSI Score: 3.2
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    CSI Score: 3.1
  • Cell Name: myeloid cell (CL0000763)
    CSI Score: 3.0
  • Cell Name: neural progenitor cell (CL0011020)
    CSI Score: 3.0
  • Cell Name: mononuclear phagocyte (CL0000113)
    CSI Score: 2.9
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    CSI Score: 2.8
  • Cell Name: neuroblast (sensu Nematoda and Protostomia) (CL0000338)
    CSI Score: 2.8
  • Cell Name: glioblast (CL0000030)
    CSI Score: 2.8
  • Cell Name: ciliated cell (CL0000064)
    CSI Score: 2.7
  • Cell Name: cardiac muscle cell (CL0000746)
    CSI Score: 2.6
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    CSI Score: 2.6
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    CSI Score: 2.6
  • Cell Name: squamous epithelial cell (CL0000076)
    CSI Score: 2.5
  • Cell Name: stem cell (CL0000034)
    CSI Score: 2.5
  • Cell Name: malignant cell (CL0001064)
    CSI Score: 2.5
  • Cell Name: pancreatic ductal cell (CL0002079)
    CSI Score: 2.4
  • Cell Name: mesenchymal cell (CL0008019)
    CSI Score: 2.4
  • Cell Name: goblet cell (CL0000160)
    CSI Score: 2.4
  • Cell Name: enterocyte (CL0000584)
    CSI Score: 2.3
  • Cell Name: basal cell (CL0000646)
    CSI Score: 2.3
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    CSI Score: 2.2
  • Cell Name: colon epithelial cell (CL0011108)
    CSI Score: 2.2
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    CSI Score: 2.2
  • Cell Name: glial cell (CL0000125)
    CSI Score: 2.2
  • Cell Name: epithelial cell (CL0000066)
    CSI Score: 2.1
  • Cell Name: central nervous system macrophage (CL0000878)
    CSI Score: 2.1
  • Cell Name: alveolar macrophage (CL0000583)
    CSI Score: 2.1
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    CSI Score: 2.1
  • Cell Name: helper T cell (CL0000912)
    CSI Score: 2.0
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    CSI Score: 2.0
  • Cell Name: T cell (CL0000084)
    CSI Score: 2.0
  • Cell Name: retina horizontal cell (CL0000745)
    CSI Score: 1.9
  • Cell Name: cardiac endothelial cell (CL0010008)
    CSI Score: 1.9
  • Cell Name: thymocyte (CL0000893)
    CSI Score: 1.9
  • Cell Name: interneuron (CL0000099)
    CSI Score: 1.9
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    CSI Score: 1.8
  • Cell Name: microglial cell (CL0000129)
    CSI Score: 1.8
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    CSI Score: 1.8
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    CSI Score: 1.7
  • Cell Name: obsolete animal cell (CL0000548)
    CSI Score: 1.6
  • Cell Name: ciliated epithelial cell (CL0000067)
    CSI Score: 1.6
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    CSI Score: 1.5
  • Cell Name: common lymphoid progenitor (CL0000051)
    CSI Score: 1.5
  • Cell Name: retinal rod cell (CL0000604)
    CSI Score: 1.5
  • Cell Name: macrophage (CL0000235)
    CSI Score: 1.5
  • Cell Name: secretory cell (CL0000151)
    CSI Score: 1.5
  • Cell Name: pancreatic D cell (CL0000173)
    CSI Score: 1.4
  • Cell Name: mature NK T cell (CL0000814)
    CSI Score: 1.4
  • Cell Name: retinal bipolar neuron (CL0000748)
    CSI Score: 1.4
  • Cell Name: stromal cell (CL0000499)
    CSI Score: 1.4
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    CSI Score: 1.4
  • Cell Name: rod bipolar cell (CL0000751)
    CSI Score: 1.4
  • Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
    CSI Score: 1.3
  • Cell Name: intestinal epithelial cell (CL0002563)
    CSI Score: 1.3
  • Cell Name: myeloid leukocyte (CL0000766)
    CSI Score: 1.2
  • Cell Name: type I NK T cell (CL0000921)
    CSI Score: 1.2
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    CSI Score: 1.0
  • Cell Name: mesenchymal stem cell (CL0000134)
    CSI Score: 1.0
  • Cell Name: exhausted T cell (CL0011025)
    CSI Score: 1.0
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    CSI Score: 0.9
  • Cell Name: CD4-positive, alpha-beta T cell (CL0000624)
    CSI Score: 0.9
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    CSI Score: 0.9
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    CSI Score: 0.9
  • Cell Name: melanocyte (CL0000148)
    CSI Score: 0.9
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    CSI Score: 0.8

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:

Database IDs:

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.