Gene: Gad1

Basic information

Tag Content
Uniprot ID P48318; O08685;
Entrez ID 14415
Genbank protein ID AAH27059.1; CAA90277.1; CAA72934.1; AAL90767.1; AAL90766.1;
Genbank nucleotide ID XM_006498765.3; XM_006498766.3; NM_008077.5;
Ensembl protein ID ENSMUSP00000092539
Ensembl nucleotide ID ENSMUSG00000070880
Gene name Glutamate decarboxylase 1
Gene symbol Gad1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 10211762; 20333300; 9326630; 9177246;
Functional description Catalyzes the production of GABA.
Sequence
MASSTPSPAT SSNAGADPNT TNLRPTTYDT WCGVAHGCTR KLGLKICGFL QRTNSLEEKS 60
RLVSAFRERQ SSKNLLSCEN SDQGARFRRT ETDFSNLFAQ DLLPAKNGEE QTAQFLLEVV 120
DILLNYVRKT FDRSTKVLDF HHPHQLLEGM EGFNLELSDH PESLEQILVD CRDTLKYGVR 180
TGHPRFFNQL STGLDIIGLA GEWLTSTANT NMFTYEIAPV FVLMEQITLK KMREIVGWSN 240
KDGDGIFSPG GAISNMYSIM AARYKYFPEV KTKGMAAVPK LVLFTSEHSH YSIKKAGAAL 300
GFGTDNVILI KCNERGKIIP ADLEAKILDA KQKGYVPLYV NATAGTTVYG AFDPIQEIAD 360
ICEKYNLWLH VDAAWGGGLL MSRKHRHKLS GIERANSVTW NPHKMMGVLL QCSAILVKEK 420
GILQGCNQMC AGYLFQPDKQ YDVSYDTGDK AIQCGRHVDI FKFWLMWKAK GTVGFENQIN 480
KCLELADYLY AKIKNREEFE MVFDGEPEHT NVCFWYIPQS LRGVPDSPER REKLHRVAPK 540
IKALMMESGT TMVGYQPQGD KANFFRMVIS NPAATQSDID FLIEEIERLG QDL 593

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.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologGAD1517552Q0VCA1Bos taurusPredictionMore>>
1:1 orthologGAD1J9P2A8Canis lupus familiarisPredictionMore>>
1:1 orthologGAD1A0A452F295Capra hircusPredictionMore>>
1:1 orthologGAD1100052860F6ZIC0Equus caballusPredictionMore>>
1:1 orthologGAD12571Q99259CL/PHomo sapiensPublicationMore>>
1:1 orthologGad114415P48318CPOMus musculusPublicationMore>>
1:1 orthologGAD1468557Q5IS68Pan troglodytesPredictionMore>>
1:1 orthologGAD1396928P48319Sus scrofaPredictionMore>>
1:1 orthologGAD1100344727G1T3T2Oryctolagus cuniculusPredictionMore>>
1:1 orthologGad124379P18088Rattus norvegicusPredictionMore>>
1:1 orthologgad1bF1Q5U5Danio rerioPredictionMore>>

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0004351 glutamate decarboxylase activityISO
GO:0016595 glutamate bindingISO
GO:0030170 pyridoxal phosphate bindingISO
GO:0044877 protein-containing complex bindingISO
GO:0047485 protein N-terminus bindingISO

GO:Biological Process

GO ID GO Term Evidence
GO:0009449 gamma-aminobutyric acid biosynthetic processISO
GO:0035176 social behaviorIMP
GO:0035641 locomotory exploration behaviorIMP
GO:0042493 response to drugIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005737 cytoplasmIDA
GO:0005739 mitochondrionHDA
GO:0005938 cell cortexIDA
GO:0030424 axonIDA
GO:0043679 axon terminusIDA
GO:0044306 neuron projection terminusIDA
GO:0045202 synapseIDA
GO:0048786 presynaptic active zoneIDA
GO:0048786 presynaptic active zoneISO
GO:0060077 inhibitory synapseIDA
GO:0061202 clathrin-sculpted gamma-aminobutyric acid transport vesicle membraneTAS

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-112310 Neurotransmitter release cycleIEA
R-MMU-112315 Transmission across Chemical SynapsesIEA
R-MMU-112316 Neuronal SystemIEA
R-MMU-888568 GABA synthesisIEA
R-MMU-888590 GABA synthesis, release, reuptake and degradationIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0210 Decarboxylase
KW-0456 Lyase
KW-0530 Neurotransmitter biosynthesis
KW-0597 Phosphoprotein
KW-0663 Pyridoxal phosphate
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR002129 PyrdxlP-dep_de-COase
IPR015424 PyrdxlP-dep_Trfase
IPR015421 PyrdxlP-dep_Trfase_major
IPR021115 Pyridoxal-P_BS

PROSITE

PROSITE ID PROSITE Term
PS00392 DDC_GAD_HDC_YDC

Pfam

Pfam ID Pfam Term
PF00282 Pyridoxal_deC

Protein-miRNA interaction