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.