ASPSCR1 Gene (Protein Coding)

ASPSCR1 Tether For SLC2A4, UBX Domain Containing

GC17P081976
GIFtS:
43
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 t... See more...

Aliases for ASPSCR1 Gene

Aliases for ASPSCR1 Gene

  • ASPSCR1 Tether For SLC2A4, UBX Domain Containing 2 3 5
  • Tether Containing UBX Domain For GLUT4 2 3 4
  • UBXD9 2 3 4
  • UBXN9 2 3 4
  • ASPL 2 3 4
  • TUG 2 3 4
  • Alveolar Soft Part Sarcoma Chromosomal Region Candidate Gene 1 Protein 3 4
  • Alveolar Soft Part Sarcoma Chromosome Region, Candidate 1 2 3
  • ASPSCR1, UBX Domain Containing Tether For SLC2A4 2 3
  • Renal Papillary Cell Carcinoma Protein 17 3 4
  • Alveolar Soft Part Sarcoma Locus 3 4
  • UBX Domain-Containing Protein 9 3 4
  • UBX Domain Protein 9 2 3
  • RCC17 3 4
  • ASPS 2 3
  • Renal Cell Carcinoma Gene On Chromosome 17 3
  • Renal Cell Carcinoma, Papillary, 17 3
  • ASPSCR1 5
  • ASPCR1 3

External Ids for ASPSCR1 Gene

Previous GeneCards Identifiers for ASPSCR1 Gene

  • GC17M079495
  • GC17M9J0113
  • GC17P080471
  • GC17P080614
  • GC17P077529
  • GC17P079935
  • GC17P075336

Summaries for ASPSCR1 Gene

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 (ASPSCR1 Tether For SLC2A4, UBX Domain Containing) is a Protein Coding gene. Diseases associated with ASPSCR1 include Alveolar Soft Part Sarcoma and Renal Cell Carcinoma, Xp11-Associated. Among its related pathways are Vesicle-mediated transport and Translocation of GLUT4 to the plasma membrane. An important paralog of this gene is UBXN6.

UniProtKB/Swiss-Prot Summary for ASPSCR1 Gene

  • 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

Additional gene information for ASPSCR1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASPSCR1 Gene

Genomics for ASPSCR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ASPSCR1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASPSCR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASPSCR1

Top Transcription factor binding sites by QIAGEN in the ASPSCR1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • p53
  • YY1

Genomic Locations for ASPSCR1 Gene

Latest Assembly
chr17:81,976,807-82,017,669
(GRCh38/hg38)
Size:
40,863 bases
Orientation:
Plus strand

Previous Assembly
chr17:79,935,505-79,975,282
(GRCh37/hg19 by Entrez Gene)
Size:
39,778 bases
Orientation:
Plus strand

chr17:79,934,683-79,975,282
(GRCh37/hg19 by Ensembl)
Size:
40,600 bases
Orientation:
Plus strand

Genomic View for ASPSCR1 Gene

Genes around ASPSCR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASPSCR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASPSCR1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ASPSCR1 Gene

Proteins for ASPSCR1 Gene

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  • Protein details for ASPSCR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZE9-ASPC1_HUMAN
    Recommended name:
    Tether containing UBX domain for GLUT4
    Protein Accession:
    Q9BZE9
    Secondary Accessions:
    • A8K3K9
    • Q7Z6N7
    • Q8WV59
    • Q96LS5
    • Q96M40

    Protein attributes for ASPSCR1 Gene

    Size:
    553 amino acids
    Molecular mass:
    60183 Da
    Quaternary structure:
    • Interacts with GLUT4 (By similarity). Interacts with VCPKMT. Interacts with VCP.

    Three dimensional structures from OCA and Proteopedia for ASPSCR1 Gene

    Alternative splice isoforms for ASPSCR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASPSCR1 Gene

Protein Expression for ASPSCR1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ASPSCR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASPSCR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ASPSCR1 Gene

Domains & Families for ASPSCR1 Gene

Gene Families for ASPSCR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ASPSCR1 Gene

InterPro:
Blocks:
  • UBX domain
ProtoNet:

Suggested Antigen Peptide Sequences for ASPSCR1 Gene

GenScript: Design optimal peptide antigens:
  • UBX domain-containing protein 9 (ASPC1_HUMAN)
genes like me logo Genes that share domains with ASPSCR1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ASPSCR1 Gene

Function for ASPSCR1 Gene

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  6. Cell Lines for research

Molecular function for ASPSCR1 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for ASPSCR1 Gene

Gene Ontology (GO) - Molecular Function for ASPSCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 18775313
genes like me logo Genes that share ontologies with ASPSCR1: view
genes like me logo Genes that share phenotypes with ASPSCR1: view

Human Phenotype Ontology for ASPSCR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

miRNA for ASPSCR1 Gene

miRTarBase miRNAs that target ASPSCR1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASPSCR1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ASPSCR1 Gene

Localization for ASPSCR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASPSCR1 Gene

Endomembrane system. Peripheral membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane. Peripheral membrane protein. Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASPSCR1 gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytosol 3
cytoskeleton 2
mitochondrion 2
extracellular 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (3)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ASPSCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with ASPSCR1: view

Pathways & Interactions for ASPSCR1 Gene

genes like me logo Genes that share pathways with ASPSCR1: view

Pathways by source for ASPSCR1 Gene

1 KEGG pathway for ASPSCR1 Gene
1 Cell Signaling Technology pathway for ASPSCR1 Gene

SIGNOR curated interactions for ASPSCR1 Gene

Activates:

Gene Ontology (GO) - Biological Process for ASPSCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0031401 positive regulation of protein modification process IMP 23349634
GO:0042593 glucose homeostasis IEA --
GO:0046324 regulation of glucose import IEA --
genes like me logo Genes that share ontologies with ASPSCR1: view

Drugs & Compounds for ASPSCR1 Gene

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No Compound Related Data Available

Transcripts for ASPSCR1 Gene

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mRNA/cDNA for ASPSCR1 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASPSCR1

Alternative Splicing Database (ASD) splice patterns (SP) for ASPSCR1 Gene

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: - - - - - -
SP6: - - -
SP7: - - -
SP8: - - - -
SP9: -
SP10:
SP11:

ExUns: 16a · 16b ^ 17 ^ 18a · 18b ^ 19
SP1: -
SP2: - -
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for ASPSCR1 Gene

GeneLoc Exon Structure for
ASPSCR1

Expression for ASPSCR1 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ASPSCR1 Gene

mRNA expression in normal human tissues for ASPSCR1 Gene
mRNA expression by BioGPS for ASPSCR1 GenemRNA expression by GTEx for ASPSCR1 Gene

Protein differential expression in normal tissues from HIPED for ASPSCR1 Gene

This gene is overexpressed in Testis (12.8) and Peripheral blood mononuclear cells (12.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ASPSCR1 Gene



Protein tissue co-expression partners for ASPSCR1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASPSCR1

SOURCE GeneReport for Unigene cluster for ASPSCR1 Gene:

Hs.298351

mRNA Expression by UniProt/SwissProt for ASPSCR1 Gene:

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

Evidence on tissue expression from TISSUES for ASPSCR1 Gene

  • Nervous system(4.6)
  • Liver(4.4)
  • Skin(4.4)
  • Heart(4.3)
  • Eye(4.2)
  • Kidney(2.2)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ASPSCR1 Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • respiratory
  • urinary
Regions:
Thorax:
  • lung
Abdomen:
  • kidney
genes like me logo Genes that share expression patterns with ASPSCR1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ASPSCR1 Gene

Orthologs for ASPSCR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASPSCR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ASPSCR1 30 31
  • 98.45 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Aspscr1 30 17 31
  • 82.09 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ASPSCR1 30 31
  • 81.9 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ASPSCR1 30 31
  • 81.52 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Aspscr1 30
  • 81.41 (n)
Chicken
(Gallus gallus)
 Aves ASPSCR1 30
  • 61.29 (n)
gga-mir-6599 31
  • 51 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ASPSCR1 31
  • 55 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia aspscr1 30
  • 57.86 (n)
Str.1031 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.16681 30
Zebrafish
(Danio rerio)
 Actinopterygii aspscr1 30 31 31
  • 57.21 (n)
 OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.14193 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG33722 31
  • 28 (a)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea B0024.10 31
  • 20 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 29 (a)
 OneToMany
CSA.1140 31
  • 28 (a)
 OneToMany
Species where no ortholog for ASPSCR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ASPSCR1 Gene

ENSEMBL:
Gene Tree for ASPSCR1 (if available)
TreeFam:
Gene Tree for ASPSCR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASPSCR1: view image

Paralogs for ASPSCR1 Gene

Paralogs for ASPSCR1 Gene

(6) SIMAP similar genes for ASPSCR1 Gene using alignment to 9 proteins:

  • ASPC1_HUMAN
  • C9JAL9_HUMAN
  • J3KRF7_HUMAN
  • J3KRG1_HUMAN
  • J3KRY8_HUMAN
  • J3QL04_HUMAN
  • J3QR12_HUMAN
  • J3QR50_HUMAN
  • J3QRW3_HUMAN
genes like me logo Genes that share paralogs with ASPSCR1: view

Variants for ASPSCR1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASPSCR1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs13087 - p.Asp487Glu
rs34085048 - p.Val318Met
rs8074498 - p.Leu252Gln

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ASPSCR1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ASPSCR1 Gene

Variant ID Type Subtype PubMed ID
dgv5800n54 CNV loss 21841781
esv1006218 CNV insertion 20482838
esv21913 CNV gain+loss 19812545
esv3641410 CNV loss 21293372
esv3641412 CNV loss 21293372
esv3641413 CNV gain 21293372
nsv428351 CNV gain 18775914
nsv457975 CNV loss 19166990
nsv470620 CNV loss 18288195
nsv576183 CNV loss 21841781
nsv833569 CNV loss 17160897
nsv833571 CNV loss 17160897
nsv952392 CNV deletion 24416366

Variation tolerance for ASPSCR1 Gene

Residual Variation Intolerance Score: 19.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.21; 90.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASPSCR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASPSCR1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASPSCR1 Gene

Disorders for ASPSCR1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for ASPSCR1 Gene - From: OMI, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
alveolar soft part sarcoma
  • asps
renal cell carcinoma, xp11-associated
  • rccx1
sarcoma
  • connective and soft tissue neoplasm
childhood kidney cell carcinoma
  • pediatric renal cell carcinoma
skeletal muscle cancer
  • malignant tumor of skeletal muscle
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ASPC1_HUMAN
  • 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. {ECO:0000269 PubMed:11244503}.
  • 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). {ECO:0000269 PubMed:11358836}.

Additional Disease Information for ASPSCR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ASPSCR1: view

No data available for Genatlas for ASPSCR1 Gene

Publications for ASPSCR1 Gene

  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. (PMID: 11244503) Ladanyi M … Bridge J (Oncogene 2001) 2 3 4 23
  2. Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas. (PMID: 11358836) Heimann P … Vassart G (Cancer research 2001) 3 4 23
  3. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. (PMID: 23349634) Cloutier P … Coulombe B (PLoS genetics 2013) 3 4
  4. The ubiquitin regulatory X (UBX) domain-containing protein TUG regulates the p97 ATPase and resides at the endoplasmic reticulum-golgi intermediate compartment. (PMID: 22207755) Orme CM … Bogan JS (The Journal of biological chemistry 2012) 3 4
  5. Identification of type 2 diabetes-associated combination of SNPs using support vector machine. (PMID: 20416077) Ban HJ … Park KJ (BMC genetics 2010) 3 41

ExternalLinks

View latest publications for ASPSCR1 gene in Mastermind

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