Annotation Detail for PSMG1

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Basic Information Top

Gene Symbol:	PSMG1 ( C21LRP,DSCR2,LRPC21,PAC1 )
Gene Full Name:	proteasome (prosome, macropain) assembly chaperone 1
Band:	21q22.2
Quick Links	Entrez ID:8624; OMIM: 605296; Uniprot ID:PSMG1_HUMAN; ENSEMBL ID: ENSG00000183527; HGNC ID: 3043
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:5 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:0 results

Location(AA)	Modification
2	N-acetylalanine.
18	Phosphothreonine (By similarity).
56	Phosphothreonine.
57	Phosphoserine.
264	N6-acetyllysine.

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

RefSeq ID: NM_003720
Location:chr21 39469263-39477309
strand:-

Upstream the gene:6 results
Downstream the gene:1 results
Inside the gene:8 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
H3K4me3	colorectal	cancer	39477859	39478450	591	845
H3ac	HepG2	E	39477833	39478702	869	958
PHF8	293T	GSE20725	39476651	39478115	1464	74
PHF8	HeLa	GSE20725	39476580	39478101	1521	31
TAF	k562	GSE8489	39477797	39478559	762	869
TFAP2C	MCF7	GSE21234	39477407	39477859	452	324

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
RARG	MCF7	GSE15244	39454224	39454854	630	14725

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
H3ac	HepG2	E	39475412	39475935	523	0
H3ac	HepG2	E	39476433	39477016	583	0
Myc	hES	GSE17917	39476775	39477308	533	0
PHF8	Hs68plusFBS	GSE20725	39476388	39477779	1391	0
TAF	k562	GSE8489	39475412	39475804	392	0
TAF	k562	GSE8489	39476433	39476940	507	0
TFAP2C	MCF7	GSE21234	39476972	39477301	329	0
hScc1	Bcell	GSE12603	39476746	39477423	677	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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