AutismKB 2.0

Annotation Detail for ATP6V0A1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ATP6V0A1 ( ATP6N1,ATP6N1A,DKFZp781J1951,Stv1,VPP1,Vph1,a1 )
Gene Full Name: ATPase, H+ transporting, lysosomal V0 subunit a1
Band: 17q21.2
Quick LinksEntrez ID:535; OMIM: 192130; Uniprot ID:VPP1_HUMAN; ENSEMBL ID: ENSG00000033627; HGNC ID: 865
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
250Phosphothreonine (By similarity).
364Phosphotyrosine (By similarity).
Location(AA) Modifications Resource
250Phosphothreonine (By similarity).Swiss-Prot 53.0
273N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
365N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
488N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
153Phosphoserine(IKK)HMM predict
153Phosphoserine(CK1)HMM predict
250Phosphothreonine(CDK)HMM predict
250Phosphothreonine(CDC2)HMM predict
250Phosphothreonine(MAPK)HMM predict
273N-linkedHMM predict
341Phosphothreonine(PKA)HMM predict
346O-linkedHMM predict
358N-linkedHMM predict
360Phosphothreonine(MAPK)HMM predict
365N-linkedHMM predict
368N-linkedHMM predict
432Phosphoserine(PKG)HMM predict
432Phosphoserine(ATM)HMM predict
469Phosphoserine(CK1)HMM predict
480Phosphoserine(IKK)HMM predict
488N-linkedHMM predict
623Phosphoserine(ATM)HMM predict
625Phosphotyrosine(Syk)HMM predict
706Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005177
  • Location:chr17 37864387-37928121
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 37858626 37858769 143 5690
TAF k562GSE8489 37862497 37863506 1009 1386
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 37932736 37933166 430 4830
CTCF CD4SISSRdata 37932736 37933166 430 4830
CTCF HelaGSE12889 37932855 37933163 308 4888
CTCF JurkatGSE12889 37932865 37933053 188 4838
CTCF G2GSE9613 37932929 37933182 253 4934
Oct4 hESGSE17917 37932843 37933065 222 4833
TAFII hESGSE17917 37932656 37933315 659 4864
hScc1 BcellGSE12603 37932811 37933182 371 4875
hScc1 CdLSGSE12603 37932700 37933182 482 4820
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 37923008 37923360 352 0
CTCF CD4SISSRdata 37923008 37923360 352 0
CTCF G2GSE9613 37922902 37923512 610 0
H3K4me3 colorectalcancer 37864554 37865090 536 0
H3ac HepG2E 37864554 37866997 2443 0
NRSF JurkatGSE13047 37864706 37866049 1343 0
NRSF mAbJurkat 37864307 37866997 2690 0
NRSF-mono JurkatQuESTdata 37864097 37865958 1861 0
NRSF-poly JurkatQuESTdata 37864147 37866384 2237 0
Oct1 H2O2-HelaGSE14283 37907083 37907113 30 0
Oct1 HelaGSE14283 37907081 37907110 29 0
PHF8 293TGSE20725 37863868 37865065 1197 0
PolII HeLaGSE12783 37863897 37865203 1306 0
USF1 HepG2E 37924613 37926516 1903 0
hScc1 BcellGSE12603 37922902 37923439 537 0
hScc1 CdLSGSE12603 37922862 37923548 686 0
p130 shRbQuiescentGSE19898 37925882 37926388 506 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-155 hsa-mir-155 21 21097505
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 21097505
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
hsa-miR-375 hsa-mir-375 2 20584986
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
834 Unknown pSILAC let-7b ATP6V0A1 down <25% 18668040
1137 Unknown pSILAC miR-1 ATP6V0A1 down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000033627 n_a n_a n_a "lymphocyte, leukocyte, macrophage, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
ENSG00000033627 n_a n_a n_a "lymphocyte, leukocyte, macrophage, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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