AutismKB 2.0

Annotation Detail for PAK1


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Basic Information Top
Gene Symbol:PAK1 ( MGC130000,MGC130001,PAKalpha )
Gene Full Name: p21 protein (Cdc42/Rac)-activated kinase 1
Band: 11q13.5-q14.1
Quick LinksEntrez ID:5058; OMIM: 602590; Uniprot ID:PAK1_HUMAN; ENSEMBL ID: ENSG00000149269; HGNC ID: 8590
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
21Phosphoserine; by autocatalysis (By
57Phosphoserine; by autocatalysis (By
84Phosphothreonine; by OXSR1 (By
144Phosphoserine; by autocatalysis (By
149Phosphoserine; by autocatalysis (By
199Phosphoserine; by autocatalysis (By
204Phosphoserine; by autocatalysis (By
212Phosphothreonine.
219Phosphothreonine.
220Phosphoserine.
223Phosphoserine (By similarity).
225Phosphothreonine.
229Phosphothreonine.
230Phosphothreonine.
256N6-acetyllysine.
423Phosphothreonine; by autocatalysis
474Phosphotyrosine.
Location(AA) Modifications Resource
21Phosphoserine (by autocatalysis) (Bysimilarity).Swiss-Prot 53.0
57Phosphoserine (by autocatalysis) (Bysimilarity).Swiss-Prot 53.0
84Phosphothreonine (by OXSR1) (Bysimilarity).Swiss-Prot 53.0
144Phosphoserine (by autocatalysis) (Bysimilarity).Swiss-Prot 53.0
149Phosphoserine (by autocatalysis) (Bysimilarity).Swiss-Prot 53.0
199Phosphoserine (by autocatalysis) (Bysimilarity).Swiss-Prot 53.0
204Phosphoserine (by autocatalysis) (Bysimilarity).Swiss-Prot 53.0
212Phosphothreonine.Swiss-Prot 53.0
212Phosphothreonine (MAPK1;CDK
220Phosphoserine (By similarity).Swiss-Prot 53.0
223Phosphoserine (By similarity).Swiss-Prot 53.0
225Phosphothreonine (By similarity).Swiss-Prot 53.0
423Phosphothreonine (by autocatalysis)(Probable).Swiss-Prot 53.0
423Phosphothreonine (PAK1;PDK-1)Phospho.ELM 6.0
Location(AA) Modification Resource
55Phosphotyrosine(EGFR)HMM predict
111N-linkedHMM predict
154N-linkedHMM predict
157N-linkedHMM predict
160N-linkedHMM predict
167O-linkedHMM predict
174Phosphoserine(CK2)HMM predict
185Phosphothreonine(MAPK)HMM predict
212Phosphothreonine(MAPK)HMM predict
212Phosphothreonine(CDC2)HMM predict
212Phosphothreonine(CDK)HMM predict
214Phosphothreonine(MAPK)HMM predict
220Phosphoserine(CDC2)HMM predict
220Phosphoserine(CDK)HMM predict
220O-linkedHMM predict
223Phosphoserine(CDC2)HMM predict
227N-linkedHMM predict
228N-linkedHMM predict
285Phosphotyrosine(INSR)HMM predict
285Phosphotyrosine(Abl)HMM predict
423Phosphothreonine(PKA)HMM predict
437Phosphothreonine(PKC)HMM predict
479N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002576
  • Location:chr11 76710708-76862580
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 76862633 76863486 853 479
ER E2-MCF7GSE14664 76874295 76874334 39 11734
ER Fulvestrant-MCF7GSE14664 76867489 76867522 33 4925
FOXA1 MCF7GSE15244 76863060 76863348 288 624
Myc K562GSE19551 76862542 76863363 821 372
NRSF pAbJurkat 76862106 76863060 954 3
Nanog ESGSE20650 76868529 76869123 594 6246
Nanog hESGSE18292 76868561 76868979 418 6190
P300 T30-glioblastomaGSE21026 76862633 76863605 972 539
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 76701315 76701351 36 9376
Oct1 HelaGSE14283 76701321 76701358 37 9369
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 76798895 76798928 33 0
ER Fulvestrant-MCF7GSE14664 76798894 76798927 33 0
ER Fulvestrant-MCF7GSE14664 76861286 76861322 36 0
FOXA1 DLD1GSE12801 76762921 76763157 236 0
FOXA1 DLD1GSE12801 76847958 76848349 391 0
FOXA1 DLD1GSE12801 76860423 76861058 635 0
FOXA1 MCF7GSE15244 76860161 76861093 932 0
GATA3 MCF7GSE15244 76730229 76731287 1058 0
H3K4me3 colorectalcancer 76860770 76861634 864 0
Nanog ESGSE20650 76837788 76838345 557 0
Oct1 H2O2-HelaGSE14283 76716117 76716162 45 0
Oct1 H2O2-HelaGSE14283 76723562 76723588 26 0
Oct1 H2O2-HelaGSE14283 76750112 76750153 41 0
Oct1 HelaGSE14283 76716117 76716162 45 0
Oct1 HelaGSE14283 76748419 76748454 35 0
Oct1 HelaGSE14283 76750113 76750154 41 0
Oct1 HelaGSE14283 76800425 76800462 37 0
Oct1 HelaGSE14283 76819834 76819867 33 0
Oct1 HelaGSE14283 76840938 76840986 48 0
Oct1 HelaGSE14283 76850526 76850559 33 0
Oct1 HelaGSE14283 76856045 76856085 40 0
Oct1 HelaGSE14283 76861267 76861335 68 0
RARA MCF7GSE15244 76859433 76861274 1841 0
RARG MCF7GSE15244 76860459 76861093 634 0
Rb GrowingGSE19898 76800524 76800868 344 0
Rb SenescentGSE19898 76800451 76800931 480 0
Rb shRbSenescenceGSE19898 76742541 76742746 205 0
hScc1 BcellGSE12603 76861877 76862627 750 0
hScc1 CdLSGSE12603 76837671 76838057 386 0
hScc1 CdLSGSE12603 76861973 76863168 1195 0
p130 SenescentGSE19898 76796274 76796689 415 0
p130 SenescentGSE19898 76800529 76800943 414 0
p130 shRbSenescentGSE19898 76796210 76796636 426 0
p130 shRbSenescentGSE19898 76800513 76800967 454 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7f hsa-let-7f-1 9 20716115
hsa-let-7f hsa-let-7f-2 X 20716115
hsa-miR-126 hsa-mir-126 9 21148433
hsa-miR-126* hsa-mir-126 9 21148433
hsa-miR-145 hsa-mir-145 5 20716115
hsa-miR-145* hsa-mir-145 5 20716115
hsa-miR-182 hsa-mir-182 7 20716115
hsa-miR-182* hsa-mir-182 7 20716115
hsa-miR-200c hsa-mir-200c 12 20716115
hsa-miR-200c* hsa-mir-200c 12 20716115
hsa-miR-210 hsa-mir-210 11 20716115
hsa-miR-214 hsa-mir-214 1 20716115
hsa-miR-214* hsa-mir-214 1 20716115
hsa-miR-222 hsa-mir-222 X 20716115
hsa-miR-222* hsa-mir-222 X 20716115
hsa-miR-23a hsa-mir-23a 19 20716115
hsa-miR-23a* hsa-mir-23a 19 20716115
hsa-miR-29a hsa-mir-29a 7 20507733
hsa-miR-29a* hsa-mir-29a 7 20507733
hsa-miR-29b hsa-mir-29b-1 7 20507733
hsa-miR-29b hsa-mir-29b-2 1 20507733
hsa-miR-29b-1* hsa-mir-29b-1 7 20507733
hsa-miR-29b-2* hsa-mir-29b-2 1 20507733
hsa-miR-29c hsa-mir-29c 1 20507733
hsa-miR-29c* hsa-mir-29c 1 20507733
hsa-miR-377 hsa-mir-377 14 18716028
hsa-miR-377* hsa-mir-377 14 18716028
hsa-miR-7 hsa-mir-7-1 9 21156648
hsa-miR-7 hsa-mir-7-2 15 21156648
hsa-miR-7 hsa-mir-7-3 19 21156648
hsa-miR-7 hsa-mir-7-1 9 18922890
hsa-miR-7 hsa-mir-7-2 15 18922890
hsa-miR-7 hsa-mir-7-3 19 18922890
hsa-miR-7-1* hsa-mir-7-1 9 18922890
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
4931 mRNA DKFZp434E1119 chr11 76862063 76865722 337 mRNA PAK1 chr11 76710708 76862581Sense/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