Gene: GAD1

Basic information

Tag Content
Uniprot ID Q99259; Q49AK1; Q53TQ7; Q9BU91; Q9UHH4;
Entrez ID 2571
Genbank protein ID AAA52512.1; AAH36552.1; AAH02815.1; AAA35900.1; AAP88035.1; AAB26937.1; AAY24237.1; EAX11228.1; AAB26938.1; CAA80435.1; AAF18390.2; EAX11229.1; AAH26349.1; AAA72938.1; AAA62368.1; AAB59427.1;
Genbank nucleotide ID XM_005246444.2; XM_017003758.1; NM_000817.2; XM_017003756.1; NM_013445.3; XM_011510922.1;
Ensembl protein ID ENSP00000434696; ENSP00000486612; ENSP00000364421; ENSP00000341167; ENSP00000350928;
Ensembl nucleotide ID ENSG00000128683
Gene name Glutamate decarboxylase 1
Gene symbol GAD1
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type CL/P
Developmental stage
Data sources Manually collected
Reference 15103710
Functional description Catalyzes the production of GABA.
Sequence
MASSTPSSSA TSSNAGADPN TTNLRPTTYD TWCGVAHGCT RKLGLKICGF LQRTNSLEEK 60
SRLVSAFKER QSSKNLLSCE NSDRDARFRR TETDFSNLFA RDLLPAKNGE EQTVQFLLEV 120
VDILLNYVRK TFDRSTKVLD FHHPHQLLEG MEGFNLELSD HPESLEQILV DCRDTLKYGV 180
RTGHPRFFNQ LSTGLDIIGL AGEWLTSTAN TNMFTYEIAP VFVLMEQITL KKMREIVGWS 240
SKDGDGIFSP GGAISNMYSI MAARYKYFPE VKTKGMAAVP KLVLFTSEQS HYSIKKAGAA 300
LGFGTDNVIL IKCNERGKII PADFEAKILE AKQKGYVPFY VNATAGTTVY GAFDPIQEIA 360
DICEKYNLWL HVDAAWGGGL LMSRKHRHKL NGIERANSVT WNPHKMMGVL LQCSAILVKE 420
KGILQGCNQM CAGYLFQPDK QYDVSYDTGD KAIQCGRHVD IFKFWLMWKA KGTVGFENQI 480
NKCLELAEYL YAKIKNREEF EMVFNGEPEH TNVCFWYIPQ SLRGVPDSPQ RREKLHKVAP 540
KIKALMMESG TTMVGYQPQG DKANFFRMVI SNPAATQSDI DFLIEEIERL GQDL 594

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)