AutismKB 2.0

Annotation Detail for ACE


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Basic Information Top
Gene Symbol:ACE ( ACE1,CD143,DCP,DCP1,MGC26566,MVCD3 )
Gene Full Name: angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
Band: 17q23.3
Quick LinksEntrez ID:1636; OMIM: 106180; Uniprot ID:ACE_HUMAN; ENSEMBL ID: ENSG00000159640; HGNC ID: 2707
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
38N-linked (GlcNAc...) (Probable).
54N-linked (GlcNAc...).
74N-linked (GlcNAc...).
111N-linked (GlcNAc...).
146N-linked (GlcNAc...).
160N-linked (GlcNAc...) (Potential).
318N-linked (GlcNAc...).
445N-linked (GlcNAc...).
509N-linked (GlcNAc...).
677N-linked (GlcNAc...) (Potential).
695N-linked (GlcNAc...) (complex).
714N-linked (GlcNAc...) (complex).
716Phosphothreonine.
760N-linked (GlcNAc...); partial.
942N-linked (GlcNAc...); partial.
1191N-linked (GlcNAc...); partial.
1299Phosphoserine.
Location(AA) Modifications Resource
38N-linked (GlcNAc...) (Probable).Swiss-Prot 53.0
54N-linked (GlcNAc...).Swiss-Prot 53.0
74N-linked (GlcNAc...).Swiss-Prot 53.0
111N-linked (GlcNAc...) (Probable).Swiss-Prot 53.0
146N-linked (GlcNAc...).Swiss-Prot 53.0
160N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
318N-linked (GlcNAc...).Swiss-Prot 53.0
445N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
509N-linked (GlcNAc...).Swiss-Prot 53.0
677N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
695N-linked (GlcNAc...).Swiss-Prot 53.0
714N-linked (GlcNAc...).Swiss-Prot 53.0
760N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
942N-linked (GlcNAc...) (Probable).Swiss-Prot 53.0
1191N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1299Phosphoserine.Swiss-Prot 53.0
1299PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
54N-linkedHMM predict
55Phosphoserine(CK2)HMM predict
55Phosphoserine(CDK)HMM predict
74N-linkedHMM predict
79N-linkedHMM predict
111N-linkedHMM predict
160N-linkedHMM predict
215Phosphotyrosine(Syk)HMM predict
233Phosphoserine(CDC2)HMM predict
270Phosphotyrosine(INSR)HMM predict
318N-linkedHMM predict
381Phosphothreonine(PKA)HMM predict
401Phosphotyrosine(Syk)HMM predict
445N-linkedHMM predict
483Phosphothreonine(MAPK)HMM predict
483Phosphothreonine(CDK)HMM predict
509N-linkedHMM predict
523N-linkedHMM predict
550Phosphotyrosine(Syk)HMM predict
602Phosphotyrosine(Jak)HMM predict
677N-linkedHMM predict
695N-linkedHMM predict
714N-linkedHMM predict
751Phosphotyrosine(SRC)HMM predict
752Phosphoserine(SRC)HMM predict
755O-linkedHMM predict
760N-linkedHMM predict
776Phosphothreonine(PKC)HMM predict
903Phosphoserine(IKK)HMM predict
916Phosphothreonine(MAPK)HMM predict
999Phosphotyrosine(Syk)HMM predict
1039Phosphoserine(CK1)HMM predict
1044Phosphoserine(ATM)HMM predict
1158Phosphotyrosine(EGFR)HMM predict
1169Phosphothreonine(PKC)HMM predict
1225N-linkedHMM predict
1229N-linkedHMM predict
1277Phosphoserine(ATM)HMM predict
1294GlycineHMM predict
1306SerineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000789
  • Location:chr17 58908165-58928710
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
RARA MCF7GSE15244 58902745 58903067 322 5260
RARG MCF7GSE15244 58902782 58903173 391 5188
TFAP2C MCF7GSE21234 58893583 58894147 564 14301
hScc1 CdLSGSE12603 58907701 58907976 275 327
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 58910076 58910338 262 0
CTCF CD4SISSRdata 58910076 58910338 262 0
CTCF HelaGSE12889 58910066 58910430 364 0
CTCF G2GSE9613 58908266 58908666 400 0
CTCF G2GSE9613 58909896 58910743 847 0
CTCF G2GSE9613 58910981 58911302 321 0
CTCF G2GSE9613 58914944 58915414 470 0
ER MCF7GSE19013 58913197 58913989 792 0
TFAP2C MCF7GSE21234 58911657 58912493 836 0
TFAP2C MCF7GSE21234 58913290 58913870 580 0
hScc1 BcellGSE12603 58907598 58908874 1276 0
hScc1 BcellGSE12603 58909896 58910583 687 0
hScc1 CdLSGSE12603 58909896 58910466 570 0
hScc1 G2GSE9613 58909896 58910437 541 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-128 hsa-mir-128-1 2 21035445
hsa-miR-128 hsa-mir-128-2 3 21035445
hsa-miR-132 hsa-mir-132 17 21035445
hsa-miR-132* hsa-mir-132 17 21035445
hsa-miR-138 hsa-mir-138-2 16 21035445
hsa-miR-138 hsa-mir-138-1 3 21035445
hsa-miR-16 hsa-mir-16-1 13 21278583
hsa-miR-16 hsa-mir-16-2 3 21278583
hsa-miR-195 hsa-mir-195 17 21278583
hsa-miR-195* hsa-mir-195 17 21278583
hsa-miR-218 hsa-mir-218-1 4 21035445
hsa-miR-218 hsa-mir-218-2 5 21035445
hsa-miR-22 hsa-mir-22 17 21035445
hsa-miR-22* hsa-mir-22 17 21035445
hsa-miR-222 hsa-mir-222 X 21035445
hsa-miR-222* hsa-mir-222 X 21035445
hsa-miR-29c hsa-mir-29c 1 21035445
hsa-miR-29c* hsa-mir-29c 1 21035445
hsa-miR-429 hsa-mir-429 1 21130492
No data
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


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