AutismKB 2.0

Annotation Detail for PTBP1


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Basic Information Top
Gene Symbol:PTBP1 ( HNRNP-I,HNRNPI,HNRPI,MGC10830,MGC8461,PTB,PTB-1,PTB-T,PTB2,PTB3,PTB4,pPTB )
Gene Full Name: polypyrimidine tract binding protein 1
Band: 19p13.3
Quick LinksEntrez ID:5725; OMIM: 600693; Uniprot ID:PTBP1_HUMAN; ENSEMBL ID: ENSG00000011304; HGNC ID: 9583
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
16Phosphoserine.
127Phosphotyrosine.
141Phosphoserine.
433Phosphoserine.
Location(AA) Modifications Resource
1N-acetylmethionine (By similarity).Swiss-Prot 53.0
16Phosphoserine (PKA
127PhosphotyrosinePhospho.ELM 6.0
141PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
127Phosphotyrosine(EGFR)HMM predict
275Phosphotyrosine(INSR)HMM predict
285Phosphoserine(IKK)HMM predict
350Phosphothreonine(PKA)HMM predict
350Phosphothreonine(MAPK)HMM predict
350Phosphothreonine(CDK)HMM predict
433Phosphoserine(CDK)HMM predict
466PhosphoserineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002819
  • Location:chr19 748410-763326
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 747358 749408 2050 28
FOXA1 MCF7GSE15244 733307 734377 1070 14569
Fos K562GSE19551 747823 748758 935 120
HIF1 HypoHepG2 747940 748286 346 298
HIF1 NormHepG2 747841 748495 654 243
Nanog hESGSE18292 733564 733814 250 14722
P300 T0-glioblastomaGSE21026 747722 748530 808 285
PHF8 293TGSE20725 747513 748854 1341 227
Rb SenescentGSE19898 747711 748546 835 282
Sox2 hESGSE18292 733571 734005 434 14623
USF1 HepG2E 747102 748286 1184 717
USF2 HepG2E 746869 748165 1296 894
p130 QuiescentGSE19898 747756 748225 469 420
p130 SenescentGSE19898 747693 748394 701 367
p130 shRbQuiescentGSE19898 733420 733848 428 14777
p130 shRbQuiescentGSE19898 747445 748436 991 470
p130 shRbSenescentGSE19898 747639 748324 685 429
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 757040 757618 578 0
H3ac HepG2E 749393 750886 1493 0
Myc hESGSE17917 748421 748984 563 0
P300 T30-glioblastomaGSE21026 747419 749450 2031 0
Rb GrowingGSE19898 754596 754772 176 0
Rb shRbSenescenceGSE19898 748752 749042 290 0
TAF k562GSE8489 750599 750886 287 0
VDR GM10855-UnstimGSE22484 747504 749831 2327 0
VDR GM10855-stimGSE22484 747529 749510 1981 0
VDR GM10861-UnstimGSE22484 747262 750630 3368 0
VDR GM10861-stimGSE22484 747465 750041 2576 0
hScc1 BcellGSE12603 748853 748995 142 0
hScc1 BcellGSE12603 752380 752768 388 0
hScc1 BcellGSE12603 755211 755605 394 0
hScc1 BcellGSE12603 757262 757582 320 0
hScc1 BcellGSE12603 758064 758269 205 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 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-124 hsa-mir-124-1 8 21062284
hsa-miR-124 hsa-mir-124-2 8 21062284
hsa-miR-124 hsa-mir-124-3 20 21062284
hsa-miR-124 hsa-mir-124-1 8 17679093
hsa-miR-124 hsa-mir-124-2 8 17679093
hsa-miR-124 hsa-mir-124-3 20 17679093
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-124* hsa-mir-124-1 8 21062284
hsa-miR-133a hsa-mir-133a-1 18 20520763
hsa-miR-133a hsa-mir-133a-2 20 20520763
hsa-miR-133a hsa-mir-133a-1 18 17210790
hsa-miR-133a hsa-mir-133a-2 20 17210790
hsa-miR-133b hsa-mir-133b 6 17210790
hsa-miR-146a hsa-mir-146a 5 20520763
hsa-miR-146a* hsa-mir-146a 5 20520763
hsa-miR-146b-3p hsa-mir-146b 10 20520763
hsa-miR-146b-5p hsa-mir-146b 10 20520763
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-206 hsa-mir-206 6 17210790
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-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
374 Unknown MicroArray miR-124 PTBP1 n_a 15685193
1185 Unknown pSILAC miR-1 PTBP1 down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000011304 G1-to-S transition n_a n_a "epithelium, lymphocyte, lymphoblast" "benign tumour, malignant tumour, carcinoma, leukaemia, non-Hodgkin's, sarcoma"
ENSG00000011304 n_a n_a n_a "epithelium, lymphocyte, lymphoblast" "benign tumour, malignant tumour, carcinoma, leukaemia, non-Hodgkin's, 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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