Details for: SLC6A1

Gene ID: 6529

Symbol: SLC6A1

Ensembl ID: ENSG00000157103

Description: solute carrier family 6 member 1

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: epidermal Langerhans cell (CL0002457)
    Fold Change: 5.1677
    Cell Significance Index: -11.3100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 3.5520
    Cell Significance Index: 218.3300
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 3.1902
    Cell Significance Index: 45.3300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 3.1244
    Cell Significance Index: 74.9300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 3.1182
    Cell Significance Index: 1118.4500
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 2.4407
    Cell Significance Index: 52.1700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 2.0533
    Cell Significance Index: 44.9600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.6725
    Cell Significance Index: 46.7400
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 1.2014
    Cell Significance Index: 15.5800
  • Cell Name: chandelier cell (CL4023083)
    Fold Change: 1.0899
    Cell Significance Index: 8.8000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.9749
    Cell Significance Index: 43.1200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.7793
    Cell Significance Index: 538.9600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.7281
    Cell Significance Index: 27.5700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4324
    Cell Significance Index: 85.8200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.1828
    Cell Significance Index: 11.2100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0866
    Cell Significance Index: 78.2200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0234
    Cell Significance Index: -35.9900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0289
    Cell Significance Index: -54.3600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0363
    Cell Significance Index: -7.2900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0380
    Cell Significance Index: -51.6700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0421
    Cell Significance Index: -77.5700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0794
    Cell Significance Index: -35.0900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0815
    Cell Significance Index: -51.7800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0838
    Cell Significance Index: -62.0500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0839
    Cell Significance Index: -63.4800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.1091
    Cell Significance Index: -59.5700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1114
    Cell Significance Index: -62.8300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1137
    Cell Significance Index: -14.5700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.1412
    Cell Significance Index: -64.0800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1692
    Cell Significance Index: -48.6700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: -0.1726
    Cell Significance Index: -32.8500
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: -0.1777
    Cell Significance Index: -2.4900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.2341
    Cell Significance Index: -38.0800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.2582
    Cell Significance Index: -46.5400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.3026
    Cell Significance Index: -63.7400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.3400
    Cell Significance Index: -58.0600
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.3414
    Cell Significance Index: -6.7500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.3534
    Cell Significance Index: -51.3700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3591
    Cell Significance Index: -7.2100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.3824
    Cell Significance Index: -37.8300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3864
    Cell Significance Index: -8.2000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.4183
    Cell Significance Index: -51.4300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.4209
    Cell Significance Index: -54.3800
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.4420
    Cell Significance Index: -9.5500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.4464
    Cell Significance Index: -61.3000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.4473
    Cell Significance Index: -51.2500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.4741
    Cell Significance Index: -6.7900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.4801
    Cell Significance Index: -56.6200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.5004
    Cell Significance Index: -17.5900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.5151
    Cell Significance Index: -56.0300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.5160
    Cell Significance Index: -60.1300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.5237
    Cell Significance Index: -53.5000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.5487
    Cell Significance Index: -57.1300
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.5922
    Cell Significance Index: -10.2400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.6805
    Cell Significance Index: -8.4400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.6869
    Cell Significance Index: -31.1400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.7249
    Cell Significance Index: -40.6800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.7390
    Cell Significance Index: -55.0800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.7655
    Cell Significance Index: -58.7400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.7879
    Cell Significance Index: -52.9800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.8071
    Cell Significance Index: -55.8200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.8331
    Cell Significance Index: -52.5100
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.8652
    Cell Significance Index: -21.6100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.8830
    Cell Significance Index: -46.3600
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.8993
    Cell Significance Index: -10.7600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.9102
    Cell Significance Index: -47.4100
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -1.0356
    Cell Significance Index: -45.0300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -1.0655
    Cell Significance Index: -49.6800
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -1.1374
    Cell Significance Index: -27.5500
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -1.1480
    Cell Significance Index: -23.9600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -1.1485
    Cell Significance Index: -53.9800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -1.1962
    Cell Significance Index: -32.5600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -1.2085
    Cell Significance Index: -62.7800
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -1.2410
    Cell Significance Index: -15.6600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -1.3803
    Cell Significance Index: -35.4800
  • Cell Name: neural cell (CL0002319)
    Fold Change: -1.3843
    Cell Significance Index: -16.1500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -1.3936
    Cell Significance Index: -48.8200
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: -1.4322
    Cell Significance Index: -11.4000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -1.4411
    Cell Significance Index: -52.9000
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: -1.4561
    Cell Significance Index: -11.4200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -1.4563
    Cell Significance Index: -47.6800
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -1.5133
    Cell Significance Index: -17.3200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -1.7391
    Cell Significance Index: -29.3000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -1.7679
    Cell Significance Index: -56.3100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -1.7980
    Cell Significance Index: -51.8100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -1.8845
    Cell Significance Index: -54.0200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.8846
    Cell Significance Index: -55.5100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -1.8861
    Cell Significance Index: -39.4800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -1.9220
    Cell Significance Index: -48.0500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -1.9725
    Cell Significance Index: -56.2900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -1.9730
    Cell Significance Index: -42.7500
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -2.0084
    Cell Significance Index: -39.5300
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: -2.0325
    Cell Significance Index: -21.0800
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -2.0619
    Cell Significance Index: -34.6800
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -2.0801
    Cell Significance Index: -41.4800
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -2.0832
    Cell Significance Index: -51.9500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -2.1044
    Cell Significance Index: -56.1900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -2.1216
    Cell Significance Index: -31.3200
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -2.1237
    Cell Significance Index: -22.7700
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -2.1327
    Cell Significance Index: -53.2000

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** 1. **Transmembrane Transporter**: The SLC6A1 gene encodes a transmembrane transporter that spans the plasma membrane and facilitates the transport of GABA across cell membranes. 2. **Na+/Cl- Dependent**: The transporter is dependent on sodium and chloride ions to drive the transport of GABA. 3. **High Expression in GABAergic Neurons**: The SLC6A1 gene is highly expressed in GABAergic neurons, which are responsible for regulating neuronal excitability and synaptic transmission. 4. **Regulation of Synaptic Transmission**: The SLC6A1 gene plays a crucial role in regulating synaptic transmission by modulating the release and uptake of GABA. **Pathways and Functions** 1. **Amino Acid Transport**: The SLC6A1 gene is involved in the transport of amino acids across cell membranes, including GABA, glutamate, and aspartate. 2. **GABAergic Synapse**: The SLC6A1 gene is essential for the regulation of GABAergic synapses, which are critical for inhibitory neurotransmission in the brain. 3. **Neurotransmitter Release Cycle**: The SLC6A1 gene is involved in the release and uptake of GABA, which is a critical component of the neurotransmitter release cycle. 4. **Memory and Learning**: The SLC6A1 gene is implicated in the regulation of memory and learning processes, which are dependent on GABAergic neurotransmission. **Clinical Significance** 1. **Neurological Disorders**: The SLC6A1 gene has been associated with various neurological disorders, including epilepsy, anxiety disorders, and schizophrenia. 2. **Cognitive Impairment**: Alterations in SLC6A1 gene expression have been linked to cognitive impairment and dementia. 3. **Therapeutic Potential**: The SLC6A1 gene has been targeted for therapeutic interventions, including the development of GABA-based medications for the treatment of neurological disorders. In conclusion, the SLC6A1 gene plays a critical role in GABA transport and neurotransmission, and its dysregulation has been implicated in various neurological disorders. Further research is needed to fully understand the mechanisms of SLC6A1 gene function and its therapeutic potential.

Genular Protein ID: 538905446

Symbol: SC6A1_HUMAN

Name: Sodium- and chloride-dependent GABA transporter 1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2387399

Title: Cloning of the human brain GABA transporter.

PubMed ID: 2387399

DOI: 10.1016/0014-5793(90)81149-i

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

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: 25865495

Title: Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.

PubMed ID: 25865495

DOI: 10.1016/j.ajhg.2015.02.016

PubMed ID: 30132828

Title: SLC6A1 variants identified in epilepsy patients reduce gamma-aminobutyric acid transport.

PubMed ID: 30132828

DOI: 10.1111/epi.14531

Sequence Information:

  • Length: 599
  • Mass: 67074
  • Checksum: 094DB39C1D3B75D2
  • Sequence:
  • MATNGSKVAD GQISTEVSEA PVANDKPKTL VVKVQKKAAD LPDRDTWKGR FDFLMSCVGY 
    AIGLGNVWRF PYLCGKNGGG AFLIPYFLTL IFAGVPLFLL ECSLGQYTSI GGLGVWKLAP 
    MFKGVGLAAA VLSFWLNIYY IVIISWAIYY LYNSFTTTLP WKQCDNPWNT DRCFSNYSMV 
    NTTNMTSAVV EFWERNMHQM TDGLDKPGQI RWPLAITLAI AWILVYFCIW KGVGWTGKVV 
    YFSATYPYIM LIILFFRGVT LPGAKEGILF YITPNFRKLS DSEVWLDAAT QIFFSYGLGL 
    GSLIALGSYN SFHNNVYRDS IIVCCINSCT SMFAGFVIFS IVGFMAHVTK RSIADVAASG 
    PGLAFLAYPE AVTQLPISPL WAILFFSMLL MLGIDSQFCT VEGFITALVD EYPRLLRNRR 
    ELFIAAVCII SYLIGLSNIT QGGIYVFKLF DYYSASGMSL LFLVFFECVS ISWFYGVNRF 
    YDNIQEMVGS RPCIWWKLCW SFFTPIIVAG VFIFSAVQMT PLTMGNYVFP KWGQGVGWLM 
    ALSSMVLIPG YMAYMFLTLK GSLKQRIQVM VQPSEDIVRP ENGPEQPQAG SSTSKEAYI

Genular Protein ID: 2508844085

Symbol: A0A2R8Y4I3_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

Sequence Information:

  • Length: 479
  • Mass: 54203
  • Checksum: 98F2E5E592B83DA1
  • Sequence:
  • MFKGVGLAAA VLSFWLNIYY IVIISWAIYY LYNSFTTTLP WKQCDNPWNT DRCFSNYSMV 
    NTTNMTSAVV EFWERNMHQM TDGLDKPGQI RWPLAITLAI AWILVYFCIW KGVGWTGKVV 
    YFSATYPYIM LIILFFRGVT LPGAKEGILF YITPNFRKLS DSEVWLDAAT QIFFSYGLGL 
    GSLIALGSYN SFHNNVYRDS IIVCCINSCT SMFAGFVIFS IVGFMAHVTK RSIADVAASG 
    PGLAFLAYPE AVTQLPISPL WAILFFSMLL MLGIDSQFCT VEGFITALVD EYPRLLRNRR 
    ELFIAAVCII SYLIGLSNIT QGGIYVFKLF DYYSASGMSL LFLVFFECVS ISWFYGVNRF 
    YDNIQEMVGS RPCIWWKLCW SFFTPIIVAG VFIFSAVQMT PLTMGNYVFP KWGQGVGWLM 
    ALSSMVLIPG YMAYMFLTLK GSLKQRIQVM VQPSEDIVRP ENGPEQPQAG SSTSKEAYI

Genular Protein ID: 17097954

Symbol: B7Z3C5_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

Sequence Information:

  • Length: 421
  • Mass: 47350
  • Checksum: BE1D3CF21B988F59
  • Sequence:
  • MVNTTNMTSA VVEFWERNMH QMTDGLDKPG QIRWPLAITL AIAWILVYFC IWKGVGWTGK 
    VVYFSATYPY IMLIILFFRG VTLPGAKEGI LFYITPNFRK LSDSEVWLDA ATQIFFSYGL 
    GLGSLIALGS YNSFHNNVYR DSIIVCCINS CTSMFAGFVI FSIVGFMAHV TKRSIADVAA 
    SGPGLAFLAY PEAVTQLPIS PLWAILFFSM LLMLGIDSQF CTVEGFITAL VDEYPRLLRN 
    RRELFIAAVC IISYLIGLSN ITQGGIYVFK LFDYYSASGM SLLFLVFFEC VSISWFYGVN 
    RFYDNIQEMV GSRPCIWWKL CWSFFTPIIV AGVFIFSAVQ MTPLTMGNYV FPKWGQGVGW 
    LMALSSMVLI PGYMAYMFLT LKGSLKQRIQ VMVQPSEDIV RPENGPEQPQ AGSSTSKEAY 
    I

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.