AutismKB 2.0

Annotation Detail for KPNA1


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Basic Information Top
Gene Symbol:KPNA1 ( IPOA5,NPI-1,RCH2,SRP1 )
Gene Full Name: karyopherin alpha 1 (importin alpha 5)
Band: 3q21.1
Quick LinksEntrez ID:3836; OMIM: 600686; Uniprot ID:IMA1_HUMAN; ENSEMBL ID: ENSG00000114030; HGNC ID: 6394
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
3Phosphothreonine (By similarity).
51Nuclear localization signal (By
Location(AA) Modifications Resource
3Phosphothreonine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
16N-linkedHMM predict
20N-linkedHMM predict
57Phosphothreonine(CK2)HMM predict
140N-linkedHMM predict
253Phosphoserine(IKK)HMM predict
310Phosphotyrosine(Syk)HMM predict
310Phosphotyrosine(Jak)HMM predict
349Phosphoserine(CDC2)HMM predict
349Phosphoserine(ATM)HMM predict
364N-linkedHMM predict
369N-linkedHMM predict
406N-linkedHMM predict
408O-linkedHMM predict
461N-linkedHMM predict
463Phosphothreonine(PKA)HMM predict
466N-linkedHMM predict
493Phosphotyrosine(EGFR)HMM predict
503SulfotyrosineHMM predict
511Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002264
  • Location:chr3 123623437-123716473
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 123716069 123717025 956 74
PHF8 Hs68minusFBSGSE20725 123716035 123716923 888 6
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 123684386 123685171 785 0
CTCF G2GSE9613 123661053 123661372 319 0
CTCF G2GSE9613 123715698 123716596 898 0
H3K4me3 colorectalcancer 123715456 123715777 321 0
Myc hESGSE17917 123716319 123716581 262 0
NFkBII GM12878GSE19485 123684079 123685436 1357 0
P300 T30-glioblastomaGSE21026 123684356 123685101 745 0
P300 T30-glioblastomaGSE21026 123698921 123699432 511 0
PHF8 HeLaGSE20725 123715682 123716911 1229 0
PHF8 Hs68plusFBSGSE20725 123715337 123716876 1539 0
RARA MCF7GSE15244 123659943 123660310 367 0
RARG MCF7GSE15244 123660935 123661372 437 0
Rb GrowingGSE19898 123715565 123715773 208 0
TFAP2C MCF7GSE21234 123645179 123645962 783 0
hScc1 BcellGSE12603 123715566 123716596 1030 0
hScc1 CdLSGSE12603 123660428 123661053 625 0
hScc1 CdLSGSE12603 123684464 123684824 360 0
hScc1 CdLSGSE12603 123715566 123716901 1335 0
p130 SenescentGSE19898 123715385 123715750 365 0
p130 shRbSenescentGSE19898 123715439 123715867 428 0
Validated miRNA targets Top
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
18591 EST chr3 123628258 123628777 451 mRNA KPNA1 chr3 123627216 123716335Sense/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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