Annotation Detail for GAD1

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Basic Information Top

Gene Symbol:	GAD1 ( FLJ45882,GAD,SCP )
Gene Full Name:	glutamate decarboxylase 1 (brain, 67kDa)
Band:	2q31.1
Quick Links	Entrez ID:2571; OMIM: 605363; Uniprot ID:DCE1_HUMAN; ENSEMBL ID: ENSG00000128683; HGNC ID: 4092
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:1 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:20 results

Location(AA)	Modification
405	N6-(pyridoxal phosphate)lysine.

Location(AA)	Modification	Resource
5	Phosphothreonine(MAPK)	HMM predict
5	Phosphothreonine(CDK)	HMM predict
7	O-linked	HMM predict
11	O-linked	HMM predict
12	Phosphoserine(CK1)	HMM predict
20	N-linked	HMM predict
23	N-linked	HMM predict
56	Phosphoserine(CK1)	HMM predict
56	Phosphoserine	HMM predict
136	Phosphothreonine(PKA)	HMM predict
249	Phosphoserine(CDK)	HMM predict
249	Phosphoserine(CDC2)	HMM predict
336	Phosphotyrosine(INSR)	HMM predict
336	Phosphotyrosine(Jak)	HMM predict
342	N-linked	HMM predict
398	Phosphoserine(CK1)	HMM predict
442	Phosphotyrosine(Syk)	HMM predict
473	Phosphothreonine(PKC)	HMM predict
491	Phosphotyrosine(Jak)	HMM predict
528	Phosphoserine(CDC2)	HMM predict

Validated transcription factor binding site by ChIP-Chip and ChIP-Seq

RefSeq ID: NM_000817
Location:chr2 171381445-171425902
strand:+

Upstream the gene:0 results
Downstream the gene:6 results
Inside the gene:4 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	171438042	171438380	338	12309
CTCF	CD4	SISSRdata	171438042	171438380	338	12309
CTCF	Jurkat	GSE12889	171437987	171438368	381	12275
CTCF	G2	GSE9613	171437984	171438441	457	12310
RARA	MCF7	GSE15244	171437908	171438669	761	12386
hScc1	G2	GSE9613	171437954	171438331	377	12240

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
Myc	K562	GSE19551	171410144	171410528	384	0
PAX3-FKHR	Rh4	GSE19063	171412225	171413011	786	0
STAT1	HeLa	GSE12782	171408131	171409335	1204	0
STAT1	HeLa	GSE12783	171408165	171409256	1091	0

Validated miRNA targets

Cis-Nats regulation

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

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