Details for: GAD1

Gene ID: 2571

Symbol: GAD1

Ensembl ID: ENSG00000128683

Description: glutamate decarboxylase 1

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: inhibitory interneuron (CL0000498)
    Fold Change: 3.47
    Marker Score: 16071
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 3.3
    Marker Score: 1281.5
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 2.96
    Marker Score: 6015
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.6
    Marker Score: 51788
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.44
    Marker Score: 36435
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.41
    Marker Score: 91384
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.32
    Marker Score: 85657
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.31
    Marker Score: 17732
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 2.17
    Marker Score: 73427
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.15
    Marker Score: 2597
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.15
    Marker Score: 8893
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 2.11
    Marker Score: 8798
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.97
    Marker Score: 7626
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.8
    Marker Score: 1053
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.79
    Marker Score: 2407
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.77
    Marker Score: 1625
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1170
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.45
    Marker Score: 556
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 870
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.26
    Marker Score: 855
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.17
    Marker Score: 486
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.12
    Marker Score: 1380
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.09
    Marker Score: 502
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 1.05
    Marker Score: 1514.5
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71820
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48045
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 508
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 462
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5339
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 373
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2739
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 325
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5286
  • Cell Name: T-helper 17 cell (CL0000899)
    Fold Change: 0.86
    Marker Score: 565.5
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.81
    Marker Score: 620
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.8
    Marker Score: 1632
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 709
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1261
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.77
    Marker Score: 3242
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 396
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.76
    Marker Score: 1435.5
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 462
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.72
    Marker Score: 2933.5
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.72
    Marker Score: 11268
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.61
    Marker Score: 404
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.61
    Marker Score: 319
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.6
    Marker Score: 633
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.59
    Marker Score: 557
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.59
    Marker Score: 470
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.57
    Marker Score: 343
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.55
    Marker Score: 173
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 173
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.51
    Marker Score: 1368
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.49
    Marker Score: 1405
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.46
    Marker Score: 557
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.45
    Marker Score: 253
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.43
    Marker Score: 319
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.42
    Marker Score: 696
  • Cell Name: starburst amacrine cell (CL0004232)
    Fold Change: 0.42
    Marker Score: 119
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.41
    Marker Score: 101
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.4
    Marker Score: 184
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.39
    Marker Score: 184
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.37
    Marker Score: 118
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.36
    Marker Score: 209
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.34
    Marker Score: 3553
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.34
    Marker Score: 339
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.34
    Marker Score: 211
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.34
    Marker Score: 613
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.33
    Marker Score: 690
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.33
    Marker Score: 136
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.32
    Marker Score: 10951
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.31
    Marker Score: 1081
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.31
    Marker Score: 177
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.31
    Marker Score: 81
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.3
    Marker Score: 313
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.3
    Marker Score: 78
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.29
    Marker Score: 251
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.28
    Marker Score: 313
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.28
    Marker Score: 89
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.27
    Marker Score: 307
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.26
    Marker Score: 742
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.26
    Marker Score: 83
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.25
    Marker Score: 5280
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.25
    Marker Score: 123
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.25
    Marker Score: 580
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.23
    Marker Score: 80
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.23
    Marker Score: 113
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.23
    Marker Score: 101
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 65
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.23
    Marker Score: 944
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 74
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.21
    Marker Score: 356
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.21
    Marker Score: 516
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.21
    Marker Score: 307
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.2
    Marker Score: 133
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.2
    Marker Score: 773
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.2
    Marker Score: 105

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Other Information

**Key characteristics:** * The GAD1 gene is located on chromosome 17q23.1. * It is a single-exon gene with a length of approximately 15.6 kb. * The protein encoded by GAD1 is a transmembrane protein with a molecular weight of approximately 120 kDa. * It is a key enzyme in the synthesis and release of GABA. **Pathways and functions:** * The GAD1 gene is involved in the chemical synaptic transmission of GABA. * It is a key enzyme in the synthesis of GABA from glutamate. * It is also involved in the reuptake of GABA into the neuron. * The product of the GAD1 gene, GABA, is a potent inhibitory neurotransmitter that modulates various neuronal and behavioral functions. **Clinical significance:** * Mutations in the GAD1 gene have been linked to several neurological disorders, including autism, schizophrenia, and epilepsy. * These disorders are characterized by abnormal GABAergic neurotransmission. * Drugs that target the GAD1 enzyme are being investigated as potential treatments for these disorders.

Genular Protein ID: 1804459099

Symbol: DCE1_HUMAN

Name: Glutamate decarboxylase 1

UniProtKB Accession Codes:

Q99259 Q49AK1 Q53TQ7 Q9BU91 Q9UHH4

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 7 ChEMBL 1 ChiTaRS 1 ComplexPortal 2 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EC 1 EMBL 16 EPD 1 Ensembl 5 EvolutionaryTrace 1 ExpressionAtlas 1 GO 18 Gene3D 2 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 4 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 2 PIR 4 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 3 RefSeq 6 Rhea 2 SAM 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 1549570

Title: Two human glutamate decarboxylases, 65-kDa GAD and 67-kDa GAD, are each encoded by a single gene.

PubMed ID: 1549570

DOI: 10.1073/pnas.89.6.2115

PubMed ID: 8088791

Title: The exon-intron organization of the genes (GAD1 and GAD2) encoding two human glutamate decarboxylases (GAD67 and GAD65) suggests that they derive from a common ancestral GAD.

PubMed ID: 8088791

DOI: 10.1006/geno.1994.1246

PubMed ID: 1683462

Title: Cloning of large isoform of human brain glutamic acid decarboxylase.

PubMed ID: 1683462

DOI: 10.1016/0140-6736(91)92780-6

PubMed ID: 1339255

Title: Nucleotide sequence and chromosomal assignment of a cDNA encoding the large isoform of human glutamate decarboxylase.

PubMed ID: 1339255

DOI: 10.1111/j.1469-1809.1992.tb01150.x

PubMed ID: 8507202

Title: Molecular cloning of full-length glutamic acid decarboxylase 67 from human pancreas and islets.

PubMed ID: 8507202

DOI: 10.1006/bbrc.1993.1564

PubMed ID: 8507203

Title: Cloning and expression of large isoform of glutamic acid decarboxylase from human pancreatic islet.

PubMed ID: 8507203

DOI: 10.1006/bbrc.1993.1565

PubMed ID: 10671565

Title: Alternative splicing of GAD67 results in the synthesis of a third form of glutamic-acid decarboxylase in human islets and other non-neural tissues.

PubMed ID: 10671565

DOI: 10.1074/jbc.275.7.5188

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

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: 2039509

Title: Cloning and partial nucleotide sequence of human glutamic acid decarboxylase cDNA from brain and pancreatic islets.

PubMed ID: 2039509

DOI: 10.1016/0006-291x(91)90418-7

PubMed ID: 1697032

Title: Expression of the neurotransmitter-synthesizing enzyme glutamic acid decarboxylase in male germ cells.

PubMed ID: 1697032

DOI: 10.1128/mcb.10.9.4701-4711.1990

PubMed ID: 32282878

Title: Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

PubMed ID: 32282878

DOI: 10.1093/brain/awaa085

PubMed ID: 17384644

Title: GABA production by glutamic acid decarboxylase is regulated by a dynamic catalytic loop.

PubMed ID: 17384644

DOI: 10.1038/nsmb1228

PubMed ID: 23126365

Title: Structural characterization of the mechanism through which human glutamic acid decarboxylase auto-activates.

PubMed ID: 23126365

DOI: 10.1042/bsr20120111

PubMed ID: 15571623

Title: Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders.

PubMed ID: 15571623

DOI: 10.1186/1471-2377-4-20

PubMed ID: 33634263

Title: Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL.

PubMed ID: 33634263

DOI: 10.1093/braincomms/fcab002

Sequence Information:

  • Length: 594
  • Mass: 66897
  • Checksum: 6D761C471C81FDAE
  • Sequence:
    • MASSTPSSSA TSSNAGADPN TTNLRPTTYD TWCGVAHGCT RKLGLKICGF LQRTNSLEEK 
SRLVSAFKER QSSKNLLSCE NSDRDARFRR TETDFSNLFA RDLLPAKNGE EQTVQFLLEV 
VDILLNYVRK TFDRSTKVLD FHHPHQLLEG MEGFNLELSD HPESLEQILV DCRDTLKYGV 
RTGHPRFFNQ LSTGLDIIGL AGEWLTSTAN TNMFTYEIAP VFVLMEQITL KKMREIVGWS 
SKDGDGIFSP GGAISNMYSI MAARYKYFPE VKTKGMAAVP KLVLFTSEQS HYSIKKAGAA 
LGFGTDNVIL IKCNERGKII PADFEAKILE AKQKGYVPFY VNATAGTTVY GAFDPIQEIA 
DICEKYNLWL HVDAAWGGGL LMSRKHRHKL NGIERANSVT WNPHKMMGVL LQCSAILVKE 
KGILQGCNQM CAGYLFQPDK QYDVSYDTGD KAIQCGRHVD IFKFWLMWKA KGTVGFENQI 
NKCLELAEYL YAKIKNREEF EMVFNGEPEH TNVCFWYIPQ SLRGVPDSPQ RREKLHKVAP 
KIKALMMESG TTMVGYQPQG DKANFFRMVI SNPAATQSDI DFLIEEIERL GQDL

Genular Protein ID: 3603765977

Symbol: Q8IVA8_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q8IVA8

Database IDs:

ARBA 11 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 5 ChiTaRS 1 DNASU 1 DrugBank 1 EC 1 EMBL 2 GO 3 Gene3D 2 Genevisible 1 GenomeRNAi 1 IntAct 1 InterPro 4 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSR 1 PROSITE 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 RefSeq 1 Rhea 2 RuleBase 1 SAM 1 SUPFAM 1

Citations:

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

Sequence Information:

  • Length: 594
  • Mass: 66917
  • Checksum: 580F11F932F8B1F3
  • Sequence:
    • MASSTPSSSA TSSNAGADPN TTNLRPTTYD TWCGVAHGCT RKLGLKICGF LQRTNSLEEK 
SRLVSAFKER QSSKNLLSCE NSDRDARFRR TETDFSNLFA RDLLPAKNGE EQTVQFLLEV 
VDILLNYVRK TFDRSTKVLD FHHPHQLLEG MEGFNLELSD HPESLEQILV DCRDTLKYGV 
RTGHPRFFNQ LSTGLDIIGL AGEWLTSTAN TNMFTYEIAP VFVLMEQITL KKMREIVGWS 
SKDGDGIFSP GGAISNMYSI MAARYKYFPE VKTKGMAAVP KLVLFTSEQS RYSIKKAGAA 
LGFGTDNVIL IKCNERGEII PADFEAKILE AKQKGYVPFY VNATAGTTVY GAFDPIQEIA 
DICEKYNLWL HVDAAWGGGL LMSRKHRHKL NGIERANSVT WNPHKMMGVL LQCSAILVKE 
KGILQGCNQM CAGYLFQPDK QYDVSYDTGD KAIQCGRHVD IFKFWLMWKA KGTVGFENQI 
NKCLELAEYL YAKIKNREEF EMVFNGEPEH TNVCFWYIPQ SLRGVPDSPQ RREKLHKVAP 
KIKALMMESG TTMVGYQPQG DKANFFRMVI SNPAATQSDI DFLIEEIERL GQDL

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.