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ASPSCR1 Gene

protein-coding   GIFtS: 60
GCID: GC17P079935

Alveolar Soft Part Sarcoma Chromosome Region, Candidate...

  See ASPSCR1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Alveolar Soft Part Sarcoma Chromosome Region, Candidate 11 2     UBXD92 3
ASPL2 3 5     UBXN92 3
RCC172 3 5     UBX Domain-Containing Protein 92 3
UBX Domain Protein 91 2     ASPS2 5
Alveolar Soft Part Sarcoma Chromosomal Region Candidate Gene 1 Protein2 3     ASPCR12
Alveolar Soft Part Sarcoma Locus2 3     Renal Cell Carcinoma Gene On Chromosome 172
Renal Papillary Cell Carcinoma Protein 172 3     Renal Cell Carcinoma, Papillary, 172
TUG2 3     Tether Containing UBX Domain For GLUT42

External Ids:    HGNC: 138251   Entrez Gene: 790582   Ensembl: ENSG000001696967   OMIM: 6062365   UniProtKB: Q9BZE93   

Export aliases for ASPSCR1 gene to outside databases

Previous GC identifers: GC17M079495 GC17M9J0113 GC17P080471 GC17P080614 GC17P077529 GC17P075336


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ASPSCR1 Gene:
The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This
protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence
of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation.
Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion
protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript
variants have been found. (provided by RefSeq, Oct 2011)

GeneCards Summary for ASPSCR1 Gene:
ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1) is a protein-coding gene. Diseases associated with ASPSCR1 include alveolar soft part sarcoma, and renal cell carcinoma, papillary, 1.

UniProtKB/Swiss-Prot: ASPC1_HUMAN, Q9BZE9
Function: Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin.
Modulates the amount of GLUT4 that is available at the cell surface (By similarity). Enhances VCP methylation
catalyzed by VCPKMT

Gene Wiki entry for ASPSCR1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010663.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the ASPSCR1 gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F   E2F-1   p53   E2F-2   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidASPSCR1 promoter sequence
   Search Chromatin IP Primers for ASPSCR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ASPSCR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q25.3   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25

ASPSCR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASPSCR1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P079935:  view genomic region     (about GC identifiers)

Start:
79,934,683 bp from pter      End:
79,975,282 bp from pter
Size:
40,600 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ASPC1_HUMAN, Q9BZE9 (See protein sequence)
Recommended Name: Tether containing UBX domain for GLUT4  
Size: 553 amino acids; 60183 Da
Subunit: Interacts with GLUT4 (By similarity). Interacts with VCPKMT
Secondary accessions: A8K3K9 Q7Z6N7 Q8WV59 Q96LS5 Q96M40
Alternative splicing: 4 isoforms:  Q9BZE9-1   Q9BZE9-2   Q9BZE9-3   Q9BZE9-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ASPSCR1: NX_Q9BZE9

Explore proteomics data for ASPSCR1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ASPSCR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001238817.1  NP_076988.1  

    ENSEMBL proteins: 
     ENSP00000463316   ENSP00000306625   ENSP00000302176   ENSP00000344020   ENSP00000464408  
     ENSP00000462329   ENSP00000464044   ENSP00000461984   ENSP00000463708   ENSP00000463992  
     ENSP00000462218   ENSP00000461980  
    Reactome Protein details: Q9BZE9

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    UBXN: UBX domain containing

    2 InterPro protein domains:
     IPR021569 TUG/UBX4
     IPR001012 UBX

    Graphical View of Domain Structure for InterPro Entry Q9BZE9

    ProtoNet protein and cluster: Q9BZE9

    1 Blocks protein domain: IPB001012 UBX domain

    UniProtKB/Swiss-Prot: ASPC1_HUMAN, Q9BZE9
    Similarity: Contains 1 UBX domain


    Find genes that share domains with ASPSCR1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ASPC1_HUMAN, Q9BZE9
    Function: Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin.
    Modulates the amount of GLUT4 that is available at the cell surface (By similarity). Enhances VCP methylation
    catalyzed by VCPKMT

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding IPI18775313
         
    Find genes that share ontologies with ASPSCR1           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ASPSCR1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ASPC1_HUMAN, Q9BZE9: Endomembrane system; Peripheral membrane protein (By similarity). Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    mitochondrion2
    nucleus2
    plasma membrane2
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005634nucleus IEA--
    GO:0005829cytosol IEA--
    GO:0009898cytoplasmic side of plasma membrane IEA--
    GO:0012505endomembrane system IEA--

    Find genes that share ontologies with ASPSCR1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ASPSCR1 About    
    See pathways by source

    SuperPathContained pathways About
    1Clathrin derived vesicle budding
    Membrane Trafficking0.32
    Translocation of GLUT4 to the Plasma Membrane0.32
    2Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer
    3Glucose / Energy Metabolism
    Glucose / Energy Metabolism


    Find genes that share SuperPaths with ASPSCR1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for ASPSCR1
        Glucose / Energy Metabolism

    1 Reactome Pathway for ASPSCR1
        Translocation of GLUT4 to the plasma membrane


    1 Kegg Pathway  (Kegg details for ASPSCR1):
        Transcriptional misregulation in cancer

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ASPSCR1
    Interactions:

        GeneGlobe Interaction Network for ASPSCR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ASPSCR1 (Q9BZE91, 2, 3 ENSP000003021764) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VCPP550721, 2, 3, ENSP000003517774EBI-1993677,EBI-355164 MINT-8249113 I2D: score=3 STRING: ENSP00000351777
    PHAXQ9H8142, 3, ENSP000002975404MINT-8249102 I2D: score=2 STRING: ENSP00000297540
    ALPPP051873, ENSP000003758814I2D: score=1 STRING: ENSP00000375881
    UFD1LQ928903, ENSP000002632024I2D: score=1 STRING: ENSP00000263202
    VCPIP1Q96JH73, ENSP000003090314I2D: score=1 STRING: ENSP00000309031
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IEA--
    GO:0008150biological_process ND--
    GO:0042593glucose homeostasis IEA--
    GO:0046324regulation of glucose import IEA--
    GO:0061024membrane organization TAS--

    Find genes that share ontologies with ASPSCR1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ASPSCR1 (ASPC1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ASPSCR1 gene (2 alternative transcripts): 
    NM_001251888.1  NM_024083.3  

    Unigene Cluster for ASPSCR1:

    Alveolar soft part sarcoma chromosome region, candidate 1
    Hs.298351  [show with all ESTs]
    Unigene Representative Sequence: NM_001251888
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000581484 ENST00000306729(uc002kcy.3) ENST00000306739(uc002kcx.3 uc021ufj.1 uc002kda.3)
    ENST00000344865 ENST00000581647 ENST00000580534 ENST00000583503 ENST00000579684
    ENST00000582019 ENST00000584454(uc002kdb.1) ENST00000582355 ENST00000577733
    ENST00000578236 ENST00000581608 ENST00000585274 ENST00000583744 ENST00000578361
    ENST00000583142
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    Additional mRNA sequence: 

    AF324219.2 AK057403.1 AK057851.1 AK226086.1 AK290624.1 BC006152.1 BC018722.1 NR_045351.1 

    20 DOTS entries:

    DT.413398  DT.40309662  DT.100780203  DT.100780207  DT.95286567  DT.101962130  DT.97834292  DT.86846714 
    DT.97764475  DT.99946794  DT.95288013  DT.102826369  DT.65286530  DT.95286565  DT.95286569  DT.100829967 
    DT.92434097  DT.101980795  DT.101980796  DT.120902709 

    Selected AceView cDNA sequences (see all 198):

    CR616428 BI818865 BX346410 CR619809 AK057403 CR590197 AA303109 AF324219 
    BX418883 BQ892910 BM904949 AA303110 BM553913 BQ068530 BM926898 H54571 
    BU162446 AK090682 AI865917 CR622246 BX332908 BM463744 CR624042 NM_024083 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ASPSCR1 (see all 11)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d · 10e · 10f ^ 11a · 11b · 11c · 11d ^ 12 ^ 13 ^ 14 ^ 15 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                        -     -                                                                                             
    SP4:                                                                                                                                                            
    SP5:        -     -     -           -                       -     -                                                                                             

    ExUns: 16a · 16b ^ 17 ^ 18a · 18b ^ 19
    SP1:  -                                 
    SP2:  -                       -         
    SP3:                                    
    SP4:  -                                 
    SP5:                                    


    ECgene alternative splicing isoforms for ASPSCR1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ASPSCR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCAGGGCCG
    ASPSCR1 Expression
    About this image

    ASPSCR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ASPSCR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.298351

    UniProtKB/Swiss-Prot: ASPC1_HUMAN, Q9BZE9
    Tissue specificity: Ubiquitous. Highly expressed in testis, heart, skeletal muscle and pancreas

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ASPSCR1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aspscr11 , 5 alveolar soft part sarcoma chromosome region, candidate more1, 5 82.09(n)1
    82.03(a)1
      11 (84.41 cM)5
    689381  NM_026877.21  NP_081153.11 
     1206729735 
    chicken
    (Gallus gallus)
    Aves ASPSCR11 alveolar soft part sarcoma chromosome region, candidate more 61.29(n)
    57.23(a)
      417384  XM_415639.4  XP_415639.4 
    lizard
    (Anolis carolinensis)
    Reptilia ASPSCR16
    alveolar soft part sarcoma chromosome region, cand...
    55(a)
    1 ↔ 1
    2(118261684-118357322)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.166812 Xenopus laevis transcribed sequence with weak similarity more 78.31(n)    CD302135.1 
    zebrafish
    (Danio rerio)
    Actinopterygii aspscr11 alveolar soft part sarcoma chromosome region, candidate more 57.21(n)
    56.14(a)
      550237  NM_001017575.1  NP_001017575.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG337226
    --
    28(a)
    1 ↔ 1
    3R(4069781-4073577)
    worm
    (Caenorhabditis elegans)
    Secernentea B0024.106
    Protein B0024.10 (B0024.10) mRNA, complete cds
    20(a)
    1 ↔ 1
    V(10315250-10317394) WBGene00007100


    ENSEMBL Gene Tree for ASPSCR1 (if available)
    TreeFam Gene Tree for ASPSCR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ASPSCR1 gene
    6 SIMAP similar genes for ASPSCR1 using alignment to 9 protein entries:     ASPC1_HUMAN (see all proteins):
    CALCOCO2    ARL6IP5    ZNF799    PARK2    DCAF17    DYNC2LI1

    Find genes that share paralogs with ASPSCR1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ASPSCR1 (see all 1028)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3690172251,2
    C--79942919(+) ACACC-/CCCCCC 3 -- int10--------
    rs72097491,2
    C,A--79954981(+) GTGTCC/GGCTCC 3 -- int10--------
    rs711661831,2
    C--79959880(+) TTTTT-/TGAGAC 3 -- int11Minor allele frequency- T:0.00NA 2
    rs556906101,2
    C--79964088(+) CACAG-/GTGTGTG 3 -- int10--------
    rs1116992441,2
    C--79967497(+) CCCCCG/-TGAGG 3 -- int11Minor allele frequency- -:0.50CSA 2
    rs1139735671,2
    C,F--81048423(+) GTCCCG/AAATAG 3 -- us2k11Minor allele frequency- A:0.50NA 2
    rs2015904271,2
    --81048473(+) TGTAC-/TTTTTT 3 -- us2k10--------
    rs752328641,2
    C--81048639(+) GACAGA/TGTCTT 3 -- us2k10--------
    rs1383127891,2
    --81048693(+) ACTGCA/GAGCTC 3 -- us2k10--------
    rs1408435851,2
    C--81048707(+) CTCCCA/GGATTC 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for ASPSCR1 (79934683 - 79975282 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ASPSCR1 (see all 28):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1006218CNV Insertion20482838
    nsv909134CNV Loss21882294
    dgv3346n71CNV Loss21882294
    dgv3341n71CNV Loss21882294
    dgv3333n71CNV Loss21882294
    nsv833569CNV Loss17160897
    nsv909161CNV Loss21882294
    dgv3340n71CNV Loss21882294
    dgv3332n71CNV Loss21882294
    dgv3344n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ASPSCR1
    DNA2.0 Custom Variant and Variant Library Synthesis for ASPSCR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606236   
    OMIM disorders: 606243  
    UniProtKB/Swiss-Prot: ASPC1_HUMAN, Q9BZE9
  • Note=A chromosomal aberration involving ASPSCR1 is found in patients with alveolar soft part sarcoma.
    Translocation t(X;17)(p11;q25) with TFE3 forms a ASPSCR1-TFE3 fusion protein
  • Note=A chromosomal aberration involving ASPSCR1 has been found in two patients with of papillary renal
    cell carcinoma. Translocation t(X;17)(p11.2;q25)

  • 5 diseases for ASPSCR1:    
    About MalaCards
    alveolar soft part sarcoma    renal cell carcinoma, papillary, 1    favism    sarcoma
    renal cell carcinoma

    4 diseases from the University of Copenhagen DISEASES database for ASPSCR1:
    Alveolar soft part sarcoma     Cerebral palsy     Osteoarthritis     Cerebrovascular accident

    Find genes that share disorders with ASPSCR1           About GenesLikeMe

    Genetic Association Database (GAD): ASPSCR1
    Human Genome Epidemiology (HuGE) Navigator: ASPSCR1 (1 document)

    Export disorders for ASPSCR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ASPSCR1 gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with ASPSCR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25. (PubMed id 11244503)1, 2, 3, 9 Ladanyi M.... Bridge J. (Oncogene 2001)
    2. Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas. (PubMed id 11358836)1, 2, 9 Heimann P....Vassart G. (Cancer Res. 2001)
    3. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. (PubMed id 23349634)1, 2 Cloutier P.... Coulombe B. (PLoS Genet. 2013)
    4. Identification of type 2 diabetes-associated combination of SNPs using support vector machine. (PubMed id 20416077)1, 4 Ban H.J....Park K.J. (BMC Genet. 2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Chromosome rearrangement at 17q25 and xp11.2 in alveolar soft-part sarcoma: A case report and review of the literature. (PubMed id 10506710)1, 3 Joyama S....Yoshikawa H. (Cancer 1999)
    8. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (PLoS ONE 2013)
    9. Combining integrated genomics and functional genomics to dissect the biology of a cancer-associated, aberrant transcription factor, the ASPSCR1-TFE3 fusion oncoprotein. (PubMed id 23288701)1 Kobos R....Ladanyi M. (J. Pathol. 2013)
    10. Exploring the role of p97 and its UBX-domain cofactors through identification of their interacting proteins. (PubMed id 22350894)1 Alexandru G. (Methods Mol. Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79058 HGNC: 13825 AceView: ASPSCR1 Ensembl:ENSG00000169696 euGenes: HUgn79058
    ECgene: ASPSCR1 Kegg: 79058 H-InvDB: ASPSCR1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ASPSCR1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ASPSCR1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ASPSCR1 gene:
    Search GeneIP for patents involving ASPSCR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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