AutismKB 2.0

Annotation Detail for PSMC3


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Basic Information Top
Gene Symbol:PSMC3 ( MGC8487,TBP1 )
Gene Full Name: proteasome (prosome, macropain) 26S subunit, ATPase, 3
Band: 11p11.2
Quick LinksEntrez ID:5702; OMIM: 186852; Uniprot ID:PRS6A_HUMAN; ENSEMBL ID: ENSG00000165916; HGNC ID: 9549
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
9Phosphoserine.
Location(AA) Modifications Resource
1N-acetylmethionine.Swiss-Prot 53.0
9Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
83N-linkedHMM predict
158Phosphotyrosine(Jak)HMM predict
185Phosphotyrosine(SRC)HMM predict
185Phosphotyrosine(Syk)HMM predict
293Phosphothreonine(PKC)HMM predict
381Phosphotyrosine(Syk)HMM predict
420Phosphotyrosine(INSR)HMM predict
420SulfotyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002804
  • Location:chr11 47396895-47404564
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 47403999 47405197 1198 34
PHF8 HeLaGSE20725 47403757 47405473 1716 51
USF1 HepG2E 47404798 47405086 288 378
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 47402087 47402630 543 0
H3ac HepG2E 47402087 47404577 2490 0
LIN9 G0GSE7516 47404154 47404831 677 0
P300 T30-glioblastomaGSE21026 47403795 47405141 1346 0
PHF8 293TGSE20725 47403952 47404685 733 0
TAF HelaGSE8489 47402159 47404636 2477 0
TAF k562GSE8489 47402087 47404671 2584 0
hScc1 BcellGSE12603 47403754 47404636 882 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

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