AutismKB 2.0

Annotation Detail for ABCA1


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Basic Information Top
Gene Symbol:ABCA1 ( ABC-1,ABC1,CERP,FLJ14958,HDLDT1,MGC164864,MGC165011,TGD )
Gene Full Name: ATP-binding cassette, sub-family A (ABC1), member 1
Band: 9q31.1
Quick LinksEntrez ID:19; OMIM: 600046; Uniprot ID:ABCA1_HUMAN; ENSEMBL ID: ENSG00000165029; HGNC ID: 29
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
14N-linked (GlcNAc...) (Potential).
98N-linked (GlcNAc...).
151N-linked (GlcNAc...) (Potential).
161N-linked (GlcNAc...) (Potential).
196N-linked (GlcNAc...) (Potential).
244N-linked (GlcNAc...).
292N-linked (GlcNAc...) (Potential).
337N-linked (GlcNAc...) (Potential).
349N-linked (GlcNAc...) (Potential).
400N-linked (GlcNAc...) (Potential).
478N-linked (GlcNAc...) (Potential).
489N-linked (GlcNAc...) (Potential).
521N-linked (GlcNAc...) (Potential).
820N-linked (GlcNAc...) (Potential).
1042Phosphoserine; by PKA.
1141Phosphoserine (By similarity).
1144N-linked (GlcNAc...) (Potential).
1147Phosphoserine (By similarity).
1294N-linked (GlcNAc...) (Potential).
1453N-linked (GlcNAc...) (Potential).
1504N-linked (GlcNAc...) (Potential).
1637N-linked (GlcNAc...) (Potential).
2044N-linked (GlcNAc...) (Potential).
2054Phosphoserine; by PKA.
2238N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
14N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
98N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
151N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
161N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
196N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
244N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
292N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
337N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
349N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
400N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
478N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
489N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
521N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
820N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1042Phosphoserine (by PKA).Swiss-Prot 53.0
1042Phosphoserine (PKA
1141Phosphoserine (By similarity).Swiss-Prot 53.0
1144N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1147Phosphoserine (By similarity).Swiss-Prot 53.0
1242Phosphothreonine (CK2 alpha)Phospho.ELM 6.0
1243Phosphothreonine (CK2 alpha)Phospho.ELM 6.0
1255Phosphoserine (CK2 alpha)Phospho.ELM 6.0
1286PhosphothreoninePhospho.ELM 6.0
1294N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1305PhosphothreoninePhospho.ELM 6.0
1453N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1504N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1637N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2044N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2054Phosphoserine (by PKA).Swiss-Prot 53.0
2054Phosphoserine (PKA
2238N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
14N-linkedHMM predict
22Phosphothreonine(PKA)HMM predict
45Phosphoserine(PKG)HMM predict
46Phosphotyrosine(PKG)HMM predict
116Phosphoserine(ATM)HMM predict
151N-linkedHMM predict
161N-linkedHMM predict
196N-linkedHMM predict
244N-linkedHMM predict
247Phosphoserine(CDK)HMM predict
247Phosphoserine(CDC2)HMM predict
292N-linkedHMM predict
294O-linkedHMM predict
295Phosphoserine(CK1)HMM predict
296Phosphoserine(CK1)HMM predict
301Phosphotyrosine(SRC)HMM predict
301Phosphotyrosine(Syk)HMM predict
330Phosphotyrosine(Syk)HMM predict
337N-linkedHMM predict
347SulfotyrosineHMM predict
349N-linkedHMM predict
365Phosphoserine(CDC2)HMM predict
365Phosphoserine(CDK)HMM predict
389Phosphothreonine(MAPK)HMM predict
400N-linkedHMM predict
476Phosphoserine(CK1)HMM predict
478N-linkedHMM predict
480Phosphoserine(CK1)HMM predict
489N-linkedHMM predict
492N-linkedHMM predict
515Phosphothreonine(PKC)HMM predict
783Phosphoserine(MAPK)HMM predict
812Phosphoserine(CDC2)HMM predict
820N-linkedHMM predict
850Phosphotyrosine(Abl)HMM predict
874Phosphoserine(CK1)HMM predict
874Phosphoserine(IKK)HMM predict
958Phosphotyrosine(INSR)HMM predict
1028Phosphoserine(IKK)HMM predict
1028Phosphoserine(CK1)HMM predict
1042Phosphoserine(PKA)HMM predict
1042Phosphoserine(PKG)HMM predict
1129Phosphothreonine(PKC)HMM predict
1137Phosphoserine(CK1)HMM predict
1140Phosphoserine(CK1)HMM predict
1144N-linkedHMM predict
1145Phosphoserine(PKG)HMM predict
1151Phosphotyrosine(Jak)HMM predict
1157Phosphoserine(CK1)HMM predict
1157Phosphoserine(IKK)HMM predict
1159O-linkedHMM predict
1159Phosphoserine(ATM)HMM predict
1159Phosphoserine(IKK)HMM predict
1206Phosphotyrosine(INSR)HMM predict
1230Phosphoserine(CK1)HMM predict
1294N-linkedHMM predict
1343Phosphoserine(PKG)HMM predict
1453N-linkedHMM predict
1458N-linkedHMM predict
1548Phosphoserine(ATM)HMM predict
1623N-linkedHMM predict
1637N-linkedHMM predict
1767Phosphotyrosine(SRC)HMM predict
1767Phosphotyrosine(Jak)HMM predict
1780N-linkedHMM predict
2041Phosphotyrosine(INSR)HMM predict
2054Phosphoserine(PKG)HMM predict
2054Phosphoserine(PKA)HMM predict
2195Phosphoserine(ATM)HMM predict
2207Phosphoserine(IKK)HMM predict
2209Phosphoserine(ATM)HMM predict
2225PhosphoserineHMM predict
2225Phosphoserine(CK2)HMM predict
2238N-linkedHMM predict
2240Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005502
  • Location:chr9 106583106-106730256
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 106736012 106736039 27 5769
Oct1 HelaGSE14283 106735137 106735169 32 4897
Sox2 hESGSE18292 106743437 106744076 639 13500
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 CdLSGSE12603 106582832 106583268 436 57
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 106665349 106665642 293 0
CTCF CD4GSE12889 106728629 106728767 138 0
CTCF CD4SISSRdata 106665349 106665642 293 0
CTCF CD4SISSRdata 106728629 106728767 138 0
ER E2-MCF7GSE14664 106627277 106627313 36 0
ER Fulvestrant-MCF7GSE14664 106653427 106653461 34 0
FOXA1 MCF7GSE15244 106593836 106594324 488 0
FOXA1 MCF7GSE15244 106612684 106613337 653 0
FOXA1 MCF7GSE15244 106658065 106659085 1020 0
FOXA1 MCF7GSE15244 106688387 106689027 640 0
Fos K562GSE19551 106593809 106594362 553 0
FoxA1 MCF7MACSdata 106658599 106658871 272 0
FoxA1 MCF7MACSdata 106688629 106688769 140 0
H3K4me3 colorectalcancer 106729333 106730119 786 0
H3ac HepG2E 106704979 106706325 1346 0
H3ac HepG2E 106708232 106709487 1255 0
H3ac HepG2E 106727499 106727762 263 0
H3ac HepG2E 106729333 106730149 816 0
Myc K562GSE19551 106665281 106665754 473 0
Nanog hESGSE18292 106671229 106671472 243 0
Oct1 H2O2-HelaGSE14283 106589630 106589683 53 0
Oct1 HelaGSE14283 106589629 106589683 54 0
Oct1 HelaGSE14283 106611119 106611151 32 0
Oct1 HelaGSE14283 106623167 106623206 39 0
Oct1 HelaGSE14283 106651070 106651104 34 0
Oct1 HelaGSE14283 106694955 106694989 34 0
Oct1 HelaGSE14283 106699468 106699503 35 0
Oct4 hESGSE21916 106687957 106688787 830 0
P300 T30-glioblastomaGSE21026 106593594 106594424 830 0
P300 T30-glioblastomaGSE21026 106631832 106632794 962 0
RARA MCF7GSE15244 106658168 106659085 917 0
Rb SenescentGSE19898 106666907 106667212 305 0
Rb shRbSenescenceGSE19898 106602248 106602387 139 0
Sox2 hESGSE18292 106688210 106688713 503 0
hScc1 BcellGSE12603 106619286 106619463 177 0
hScc1 BcellGSE12603 106665087 106665854 767 0
hScc1 BcellGSE12603 106728420 106728984 564 0
hScc1 BcellGSE12603 106729416 106729840 424 0
hScc1 CdLSGSE12603 106665087 106665818 731 0
hScc1 CdLSGSE12603 106728300 106728984 684 0
hScc1 G2GSE9613 106664970 106665854 884 0
p130 SenescentGSE19898 106666576 106667021 445 0
p130 SenescentGSE19898 106667023 106667203 180 0
p130 SenescentGSE19898 106670772 106671172 400 0
p130 shRbSenescentGSE19898 106670934 106671212 278 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-33a hsa-mir-33a 22 20732877
hsa-miR-33a hsa-mir-33a 22 20466885
hsa-miR-33a hsa-mir-33a 22 20466882
hsa-miR-33a hsa-mir-33a 22 20566875
hsa-miR-33a* hsa-mir-33a 22 20732877
hsa-miR-33a* hsa-mir-33a 22 20466885
hsa-miR-33a* hsa-mir-33a 22 20466882
hsa-miR-33a* hsa-mir-33a 22 20566875
hsa-miR-33b hsa-mir-33b 17 20466882
hsa-miR-33b* hsa-mir-33b 17 20466882
No data
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
26853 mRNA chr9 104606005 104632730 368 mRNA ABCA1 chr9 104622837 104769991Sense/Antisense (SA) pairs

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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