AutismKB 2.0

Annotation Detail for ATP1A3


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Basic Information Top
Gene Symbol:ATP1A3 ( DYT12,MGC13276,RDP )
Gene Full Name: ATPase, Na+/K+ transporting, alpha 3 polypeptide
Band: 19q13.2
Quick LinksEntrez ID:478; OMIM: 182350; Uniprot ID:AT1A3_HUMAN; ENSEMBL ID: ENSG00000105409; HGNC ID: 801
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
265Phosphoserine (By similarity).
368Phosphothreonine (By similarity).
493Phosphotyrosine (By similarity).
548Phosphotyrosine (By similarity).
549Phosphotyrosine (By similarity).
933Phosphoserine; by PKA (By similarity).
Location(AA) Modifications Resource
265Phosphoserine (By similarity).Swiss-Prot 53.0
368Phosphothreonine (By similarity).Swiss-Prot 53.0
933Phosphoserine (by PKA) (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
10Phosphoserine(CDC2)HMM predict
37Phosphoserine(CK1)HMM predict
71Phosphothreonine(CDK)HMM predict
71Phosphothreonine(MAPK)HMM predict
75O-linkedHMM predict
116Phosphoserine(CK2)HMM predict
150Phosphoserine(PKC)HMM predict
205N-linkedHMM predict
207Phosphoserine(CK1)HMM predict
218Phosphoserine(CDC2)HMM predict
231N-linkedHMM predict
262Phosphothreonine(PKC)HMM predict
362O-linkedHMM predict
368PhosphothreonineHMM predict
424MethyllysineHMM predict
473N-linkedHMM predict
476N-linkedHMM predict
549Phosphotyrosine(Jak)HMM predict
567N-linkedHMM predict
572N-linkedHMM predict
628N-linkedHMM predict
674N-linkedHMM predict
933Phosphoserine(PKA)HMM predict
933Phosphoserine(PKG)HMM predict
933Phosphoserine(CAMK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_152296
  • Location:chr19 47162575-47190221
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 47191066 47191865 799 1244
Fos K562GSE19551 47190036 47190428 392 11
H3K27me3 colorectalcancer 47190852 47192146 1294 1278
NRSF mAbJurkat 47190602 47193307 2705 1733
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 47189039 47189554 515 0
NRSF mAbJurkat 47189590 47189944 354 0
Oct1 H2O2-HelaGSE14283 47170293 47170319 26 0
Oct1 HelaGSE14283 47170293 47170321 28 0
SRF GMOGSE8489 47183051 47183639 588 0
hScc1 BcellGSE12603 47170824 47171018 194 0
hScc1 BcellGSE12603 47188863 47189379 516 0
hScc1 BcellGSE12603 47189794 47190318 524 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