AutismKB 2.0

Annotation Detail for ATP5A1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ATP5A1 ( ATP5A,ATP5AL2,ATPM,MOM2,OMR,ORM,hATP1 )
Gene Full Name: ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
Band: 18q21.1
Quick LinksEntrez ID:498; OMIM: 164360; Uniprot ID:ATPA_HUMAN; ENSEMBL ID: ENSG00000152234; HGNC ID: 823
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
44Pyrrolidone carboxylic acid (By
76Phosphoserine (By similarity).
132N6-acetyllysine (By similarity).
161N6-acetyllysine.
230N6-acetyllysine (By similarity).
239N6-acetyllysine (By similarity).
261N6-acetyllysine.
305N6-acetyllysine.
427N6-acetyllysine (By similarity).
434N6-acetyllysine.
498N6-acetyllysine.
506N6-acetyllysine.
531N6-acetyllysine (By similarity).
539N6-acetyllysine.
Location(AA) Modifications Resource
44Pyrrolidone carboxylic acid (Bysimilarity).Swiss-Prot 53.0
76Phosphoserine (By similarity).Swiss-Prot 53.0
132N6-acetyllysine (By similarity).Swiss-Prot 53.0
230N6-acetyllysine (By similarity).Swiss-Prot 53.0
239N6-acetyllysine (By similarity).Swiss-Prot 53.0
261N6-acetyllysine (By similarity).Swiss-Prot 53.0
305N6-acetyllysine (By similarity).Swiss-Prot 53.0
427N6-acetyllysine (By similarity).Swiss-Prot 53.0
498N6-acetyllysine (By similarity).Swiss-Prot 53.0
531N6-acetyllysine (By similarity).Swiss-Prot 53.0
539N6-acetyllysine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
168Phosphothreonine(PKC)HMM predict
255Phosphothreonine(PKC)HMM predict
255O-linkedHMM predict
276O-linkedHMM predict
276O-linkedHMM predict
292Phosphoserine(IKK)HMM predict
311SulfotyrosineHMM predict
321Phosphotyrosine(Abl)HMM predict
334MethylarginineHMM predict
372PhosphothreonineHMM predict
423Phosphothreonine(PKC)HMM predict
476Phosphotyrosine(INSR)HMM predict
476Phosphotyrosine(SRC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001001937
  • Location:chr18 41918107-41938196
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 41933085 41933362 277 0
PHF8 293TGSE20725 41931778 41932851 1073 0
USF1 HepG2E 41933085 41933362 277 0
p130 QuiescentGSE19898 41932304 41932956 652 0
p130 SenescentGSE19898 41932471 41933021 550 0
p130 shRbQuiescentGSE19898 41932286 41932902 616 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved