Annotation Detail for ATP6V1E1

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Basic Information Top

Gene Symbol:	ATP6V1E1 ( ATP6E,ATP6E2,ATP6V1E,P31,Vma4 )
Gene Full Name:	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
Band:	22q11.21
Quick Links	Entrez ID:529; OMIM: 108746; Uniprot ID:VATE1_HUMAN; ENSEMBL ID: ENSG00000131100; HGNC ID: 857
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:2 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:3 results

Location(AA)	Modification
2	N-acetylalanine.
56	Phosphotyrosine.

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

RefSeq ID: NM_001039366
Location:chr22 16454902-16491587
strand:-

Upstream the gene:5 results
Downstream the gene:0 results
Inside the gene:14 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
FOXA1	MCF7	GSE15244	16496284	16496565	281	4837
Fos	K562	GSE19551	16491048	16492291	1243	82
RARA	MCF7	GSE15244	16496216	16496565	349	4803
TAF	k562	GSE8489	16495827	16496901	1074	4777
TAFII	hES	GSE17917	16491322	16491902	580	25

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
ETS1	Jurkat	GSE17954	16491100	16492053	953	0
FOXA1	MCF7	GSE15244	16463819	16464180	361	0
FOXA1	MCF7	GSE15244	16491034	16491591	557	0
H3K4me3	colorectal	cancer	16491034	16491489	455	0
H3ac	HepG2	E	16491034	16491720	686	0
Myc	hES	GSE17917	16491142	16491676	534	0
PHF8	HeLa	GSE20725	16491047	16491963	916	0
PHF8	Hs68plusFBS	GSE20725	16490733	16492288	1555	0
RARA	MCF7	GSE15244	16463495	16464180	685	0
RARA	MCF7	GSE15244	16491034	16491591	557	0
RARG	MCF7	GSE15244	16463529	16464180	651	0
RARG	MCF7	GSE15244	16491034	16491720	686	0
USF1	HepG2	E	16491034	16491720	686	0
USF2	HepG2	E	16491259	16491720	461	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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