![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 34892 |
FusionGeneSummary for SMG1_KPNA3 |
![]() |
Fusion gene information | Fusion gene name: SMG1_KPNA3 | Fusion gene ID: 34892 | Hgene | Tgene | Gene symbol | SMG1 | KPNA3 | Gene ID | 23049 | 3839 |
Gene name | SMG1, nonsense mediated mRNA decay associated PI3K related kinase | karyopherin subunit alpha 3 | |
Synonyms | 61E3.4|ATX|LIP | IPOA4|SRP1|SRP1gamma|SRP4|hSRP1 | |
Cytomap | 16p12.3 | 13q14.2 | |
Type of gene | protein-coding | protein-coding | |
Description | serine/threonine-protein kinase SMG1PI-3-kinase-related kinase SMG-1SMG1 phosphatidylinositol 3-kinase-related kinaselambda-interacting proteinlambda/iota protein kinase C-interacting proteinsmg-1 homolog, phosphatidylinositol 3-kinase-related kinase | importin subunit alpha-4SRP1-gammaimportin alpha 4importin alpha Q2importin alpha-3importin subunit alpha-3karyopherin alpha 3 (importin alpha 4)qip2 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q96Q15 | O00505 | |
Ensembl transtripts involved in fusion gene | ENST00000389467, ENST00000446231, ENST00000565224, ENST00000567737, | ENST00000261667, | |
Fusion gene scores | * DoF score | 14 X 10 X 7=980 | 3 X 3 X 2=18 |
# samples | 16 | 3 | |
** MAII score | log2(16/980*10)=-2.61470984411521 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: SMG1 [Title/Abstract] AND KPNA3 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | SMG1 | GO:0000184 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 11544179 |
Hgene | SMG1 | GO:0018105 | peptidyl-serine phosphorylation | 11544179|15175154 |
Hgene | SMG1 | GO:0046777 | protein autophosphorylation | 11331269|11544179 |
Hgene | SMG1 | GO:0046854 | phosphatidylinositol phosphorylation | 11331269 |
Hgene | SMG1 | GO:2001020 | regulation of response to DNA damage stimulus | 15175154 |
![]() (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | DA481995 | SMG1 | chr16 | 18937326 | + | KPNA3 | chr13 | 50366697 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-5UTR | ENST00000389467 | ENST00000261667 | SMG1 | chr16 | 18937326 | + | KPNA3 | chr13 | 50366697 | - |
intron-5UTR | ENST00000446231 | ENST00000261667 | SMG1 | chr16 | 18937326 | + | KPNA3 | chr13 | 50366697 | - |
intron-5UTR | ENST00000565224 | ENST00000261667 | SMG1 | chr16 | 18937326 | + | KPNA3 | chr13 | 50366697 | - |
intron-5UTR | ENST00000567737 | ENST00000261667 | SMG1 | chr16 | 18937326 | + | KPNA3 | chr13 | 50366697 | - |
Top |
FusionProtFeatures for SMG1_KPNA3 |
![]() |
Hgene | Tgene |
SMG1 | KPNA3 |
Serine/threonine protein kinase involved in both mRNAsurveillance and genotoxic stress response pathways. Recognizesthe substrate consensus sequence [ST]-Q. Plays a central role innonsense-mediated decay (NMD) of mRNAs containing premature stopcodons by phosphorylating UPF1/RENT1. Recruited by release factorsto stalled ribosomes together with SMG8 and SMG9 (forming theSMG1C protein kinase complex), and UPF1 to form the transient SURF(SMG1-UPF1-eRF1-eRF3) complex. In EJC-dependent NMD, the SURFcomplex associates with the exon junction complex (EJC) throughUPF2 and allows the formation of an UPF1-UPF2-UPF3 surveillancecomplex which is believed to activate NMD. Also acts as agenotoxic stress-activated protein kinase that displays somefunctional overlap with ATM. Can phosphorylate p53/TP53 and isrequired for optimal p53/TP53 activation after cellular exposureto genotoxic stress. Its depletion leads to spontaneous DNA damageand increased sensitivity to ionizing radiation (IR). May activatePRKCI but not PRKCZ. {ECO:0000269|PubMed:11331269,ECO:0000269|PubMed:11544179, ECO:0000269|PubMed:15175154,ECO:0000269|PubMed:16452507}. | Functions in nuclear protein import as an adapterprotein for nuclear receptor KPNB1. Binds specifically anddirectly to substrates containing either a simple or bipartite NLSmotif. Docking of the importin/substrate complex to the nuclearpore complex (NPC) is mediated by KPNB1 through binding tonucleoporin FxFG repeats and the complex is subsequentlytranslocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ranbinds to importin-beta and the three components separate andimportin-alpha and -beta are re-exported from the nucleus to thecytoplasm where GTP hydrolysis releases Ran from importin. Thedirectionality of nuclear import is thought to be conferred by anasymmetric distribution of the GTP- and GDP-bound forms of Ranbetween the cytoplasm and nucleus. In vitro, mediates the nuclearimport of human cytomegalovirus UL84 by recognizing a non-classical NLS. Recognizes NLSs of influenza A virus nucleoproteinprobably through ARM repeats 7-9. |
![]() * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Top |
FusionGeneSequence for SMG1_KPNA3 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for SMG1_KPNA3 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for SMG1_KPNA3 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for SMG1_KPNA3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | KPNA3 | C0036341 | Schizophrenia | 3 | PSYGENET |
Tgene | KPNA3 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
Tgene | KPNA3 | C0041696 | Unipolar Depression | 1 | PSYGENET |
Tgene | KPNA3 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |