AutismKB 2.0

Annotation Detail for AP3B1


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Basic Information Top
Gene Symbol:AP3B1 ( ADTB3,ADTB3A,HPS,HPS2,PE )
Gene Full Name: adaptor-related protein complex 3, beta 1 subunit
Band: 5q14.1
Quick LinksEntrez ID:8546; OMIM: 603401; Uniprot ID:AP3B1_HUMAN; ENSEMBL ID: ENSG00000132842; HGNC ID: 566
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
276Phosphoserine.
592N6-acetyllysine.
609Phosphoserine.
661Phosphothreonine.
Location(AA) Modifications Resource
276Phosphoserine.Swiss-Prot 53.0
276PhosphoserinePhospho.ELM 6.0
609Phosphoserine.Swiss-Prot 53.0
609PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
25O-linkedHMM predict
27O-linkedHMM predict
29Phosphoserine(CDC2)HMM predict
274Phosphotyrosine(Syk)HMM predict
564Phosphotyrosine(INSR)HMM predict
568Phosphotyrosine(Syk)HMM predict
609Phosphoserine(CDC2)HMM predict
633Phosphotyrosine(Jak)HMM predict
677Phosphoserine(CK2)HMM predict
679PhosphoserineHMM predict
685Phosphoserine(IKK)HMM predict
685Phosphoserine(CK1)HMM predict
686Phosphoserine(ATM)HMM predict
686Phosphoserine(CK1)HMM predict
688Phosphoserine(CK1)HMM predict
690Phosphoserine(ATM)HMM predict
690Phosphoserine(CK1)HMM predict
692Phosphoserine(IKK)HMM predict
694Phosphoserine(CK1)HMM predict
694Phosphoserine(IKK)HMM predict
696Phosphoserine(IKK)HMM predict
696Phosphoserine(ATM)HMM predict
698Phosphoserine(CK2)HMM predict
698Phosphoserine(CK1)HMM predict
700Phosphoserine(ATM)HMM predict
706Phosphoserine(ATM)HMM predict
706O-linkedHMM predict
716Phosphoserine(CK1)HMM predict
720Phosphoserine(CK1)HMM predict
720Phosphoserine(CK2)HMM predict
720Phosphoserine(IKK)HMM predict
721Phosphoserine(CK1)HMM predict
722Phosphoserine(CK1)HMM predict
728Phosphoserine(CK1)HMM predict
728Phosphoserine(ATM)HMM predict
732Phosphoserine(PKG)HMM predict
750Phosphoserine(CK2)HMM predict
762Phosphoserine(CK1)HMM predict
764Phosphothreonine(PKC)HMM predict
765Phosphoserine(CK2)HMM predict
767Phosphoserine(CK2)HMM predict
768Phosphoserine(IKK)HMM predict
768Phosphoserine(CK2)HMM predict
773Phosphoserine(CK1)HMM predict
773Phosphoserine(CK2)HMM predict
774Phosphoserine(CK1)HMM predict
780Phosphoserine(ATM)HMM predict
780Phosphoserine(CK2)HMM predict
780Phosphoserine(CK1)HMM predict
782Phosphoserine(IKK)HMM predict
784Phosphoserine(CK1)HMM predict
784Phosphoserine(IKK)HMM predict
786Phosphoserine(ATM)HMM predict
786Phosphoserine(CK2)HMM predict
786Phosphoserine(IKK)HMM predict
786Phosphoserine(CK1)HMM predict
790Phosphoserine(IKK)HMM predict
798Phosphothreonine(PKC)HMM predict
798Phosphothreonine(PKG)HMM predict
798Phosphothreonine(PKA)HMM predict
810Phosphothreonine(MAPK)HMM predict
835O-linkedHMM predict
835O-linkedHMM predict
835Phosphothreonine(MAPK)HMM predict
854Phosphoserine(CK1)HMM predict
859Phosphoserine(CK1)HMM predict
862O-linkedHMM predict
907N-linkedHMM predict
908N-linkedHMM predict
944Phosphoserine(CK1)HMM predict
1004N-linkedHMM predict
1016N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003664
  • Location:chr5 77333906-77626283
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 77632100 77632336 236 5935
CTCF CD4SISSRdata 77632100 77632336 236 5935
H3K4me3 colorectalcancer 77626219 77626778 559 215
Nanog ESGSE20650 77638770 77639129 359 12666
Oct1 HelaGSE14283 77636696 77636725 29 10427
PHF8 Hs68plusFBSGSE20725 77625808 77627210 1402 226
TAF HelaGSE8489 77626361 77626778 417 286
TAF k562GSE8489 77626465 77626778 313 338
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 77317800 77318127 327 15943
FOXA1 MCF7GSE15244 77328449 77329177 728 5094
FoxA1 MCF7MACSdata 77328819 77329121 302 4937
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 77382382 77383004 622 0
CTCF JurkatGSE12889 77509933 77510021 88 0
CTCF G2GSE9613 77339932 77340246 314 0
CTCF G2GSE9613 77459463 77459716 253 0
CTCF G2GSE9613 77553713 77553927 214 0
CTCF G2GSE9613 77625900 77626465 565 0
ER Fulvestrant-MCF7GSE14664 77415535 77415629 94 0
FOXA1 MCF7GSE15244 77336436 77337116 680 0
FoxA1 MCF7MACSdata 77382455 77382816 361 0
FoxA1 MCF7MACSdata 77426740 77427030 290 0
GABP k562GSE8489 77497762 77498116 354 0
H3K4me3 colorectalcancer 77625265 77625941 676 0
H3ac HepG2E 77625414 77626146 732 0
KLF4 hESGSE17917 77339538 77339814 276 0
KLF4 hESGSE17917 77509931 77510092 161 0
Nanog hESGSE18292 77340018 77340348 330 0
Nanog hESGSE18292 77459579 77459783 204 0
Nanog hESGSE18292 77493928 77494156 228 0
Nanog hESGSE18292 77603415 77603868 453 0
Oct1 HelaGSE14283 77489766 77489797 31 0
Oct1 HelaGSE14283 77490147 77490189 42 0
Oct1 HelaGSE14283 77597500 77597542 42 0
Oct1 HelaGSE14283 77612871 77612901 30 0
Oct4 ESGSE20650 77348780 77349158 378 0
Oct4 hESGSE21916 77348657 77349279 622 0
P300 T30-glioblastomaGSE21026 77382248 77383068 820 0
P300 T30-glioblastomaGSE21026 77625318 77627043 1725 0
PHF8 293TGSE20725 77625719 77626756 1037 0
hScc1 BcellGSE12603 77340012 77340286 274 0
hScc1 BcellGSE12603 77553713 77553960 247 0
hScc1 CdLSGSE12603 77339896 77340324 428 0
hScc1 CdLSGSE12603 77493968 77494293 325 0
hScc1 CdLSGSE12603 77553713 77554177 464 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 18668040
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
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
1130 Unknown pSILAC miR-1 AP3B1 down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000132842 n_a n_a n_a "lymphoblast, lymphocyte, 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


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