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Aliases for ASPSCR1 Gene

Aliases for ASPSCR1 Gene

  • Alveolar Soft Part Sarcoma Chromosome Region, Candidate 1 2 3
  • RCC17 3 4 6
  • ASPL 3 4 6
  • Alveolar Soft Part Sarcoma Chromosomal Region Candidate Gene 1 Protein 3 4
  • 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
  • UBXD9 3 4
  • UBXN9 3 4
  • ASPS 3 6
  • TUG 3 4
  • Renal Cell Carcinoma Gene On Chromosome 17 3
  • Tether Containing UBX Domain For GLUT4 3
  • Renal Cell Carcinoma, Papillary, 17 3
  • 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 (Alveolar Soft Part Sarcoma Chromosome Region, Candidate 1) is a Protein Coding gene. Diseases associated with ASPSCR1 include alveolar soft-part sarcoma and translocation renal cell carcinoma. Among its related pathways are Glucose / Energy Metabolism and Clathrin derived vesicle budding.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASPSCR1 Gene

Genomics for ASPSCR1 Gene

Regulatory Elements for ASPSCR1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ASPSCR1 Gene

Start:
81,976,807 bp from pter
End:
82,017,406 bp from pter
Size:
40,600 bases
Orientation:
Plus strand

Genomic View for ASPSCR1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ASPSCR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASPSCR1 Gene

Proteins for ASPSCR1 Gene

  • 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.

    Alternative splice isoforms for ASPSCR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASPSCR1 Gene

Proteomics data for ASPSCR1 Gene at MOPED

Post-translational modifications for ASPSCR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ASPSCR1 (ASPSCR1)

No data available for DME Specific Peptides for ASPSCR1 Gene

Domains for ASPSCR1 Gene

Gene Families for ASPSCR1 Gene

HGNC:
  • UBXN :UBX domain containing

Protein Domains for ASPSCR1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ASPSCR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BZE9

UniProtKB/Swiss-Prot:

ASPC1_HUMAN :
  • Q9BZE9
Domain:
  • Contains 1 UBX domain.
genes like me logo Genes that share domains with ASPSCR1: view

Function for ASPSCR1 Gene

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.

Gene Ontology (GO) - Molecular Function for ASPSCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 18775313
genes like me logo Genes that share ontologies with ASPSCR1: view

Animal Model Products

CRISPR Products

miRNA for ASPSCR1 Gene

miRTarBase miRNAs that target ASPSCR1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ASPSCR1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for ASPSCR1 Gene COMPARTMENTS Subcellular localization image for ASPSCR1 gene
Compartment Confidence
cytosol 2
mitochondrion 2
nucleus 2
plasma membrane 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ASPSCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with ASPSCR1: view

Pathways for ASPSCR1 Gene

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

Pathways by source for ASPSCR1 Gene

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

Gene Ontology (GO) - Biological Process for ASPSCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0008150 biological_process ND --
GO:0042593 glucose homeostasis IEA --
GO:0046324 regulation of glucose import IEA --
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with ASPSCR1: view

Transcripts for ASPSCR1 Gene

Unigene Clusters for ASPSCR1 Gene

Alveolar soft part sarcoma chromosome region, candidate 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ASPSCR1

Primer Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
ASPSCR1

Expression for ASPSCR1 Gene

mRNA expression in normal human tissues for ASPSCR1 Gene

Protein differential expression in normal tissues for ASPSCR1 Gene

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ASPSCR1 Gene

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.
genes like me logo Genes that share expressions with ASPSCR1: view

Expression partners for ASPSCR1 Gene

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia ASPSCR1 35
  • 81.9 (n)
  • 79.35 (a)
ASPSCR1 36
  • 64 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASPSCR1 35
  • 81.52 (n)
  • 78.65 (a)
ASPSCR1 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aspscr1 35
  • 82.09 (n)
  • 82.03 (a)
Aspscr1 16
Aspscr1 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ASPSCR1 35
  • 98.45 (n)
  • 97.48 (a)
ASPSCR1 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aspscr1 35
  • 81.41 (n)
  • 81.44 (a)
chicken
(Gallus gallus)
Aves ASPSCR1 35
  • 61.29 (n)
  • 57.23 (a)
gga-mir-6599 36
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASPSCR1 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aspscr1 35
  • 57.86 (n)
  • 54.79 (a)
Str.1031 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.16681 35
zebrafish
(Danio rerio)
Actinopterygii aspscr1 35
  • 57.21 (n)
  • 56.14 (a)
aspscr1 36
  • 44 (a)
OneToMany
aspscr1 36
  • 48 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14193 35
fruit fly
(Drosophila melanogaster)
Insecta CG33722 36
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea B0024.10 36
  • 20 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
OneToMany
CSA.1140 36
  • 28 (a)
OneToMany
Species with no ortholog for ASPSCR1:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for ASPSCR1 Gene

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

No data available for Paralogs for ASPSCR1 Gene

Variants for ASPSCR1 Gene

Sequence variations from dbSNP and Humsavar for ASPSCR1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs13087 - 82,016,855(+) GCCGA(C/T)GTGCT synonymous-codon, reference, nc-transcript-variant
rs2277707 -- 81,978,925(+) GTTGC(G/T)GTACT intron-variant
rs2277708 -- 81,983,465(+) GGGGC(A/G)TGGAT intron-variant
rs4075239 -- 82,000,266(-) GGCTG(C/G)GAGCC intron-variant
rs4461144 -- 82,005,321(-) GCCCC(A/G)CAGGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv909052 CNV Loss 21882294
nsv428351 CNV Gain 18775914
dgv3330n71 CNV Loss 21882294
dgv3332n71 CNV Loss 21882294
nsv470620 CNV Loss 18288195
dgv3333n71 CNV Loss 21882294
nsv909134 CNV Loss 21882294
esv21913 CNV Gain+Loss 19812545
nsv909128 CNV Gain+Loss 21882294
nsv833569 CNV Loss 17160897
dgv3337n71 CNV Loss 21882294
dgv3338n71 CNV Loss 21882294
dgv3339n71 CNV Loss 21882294
nsv909151 CNV Gain+Loss 21882294
dgv3340n71 CNV Loss 21882294
dgv3341n71 CNV Loss 21882294
nsv909160 CNV Gain 21882294
nsv909161 CNV Loss 21882294
nsv833571 CNV Loss 17160897
dgv3343n71 CNV Loss 21882294
nsv909166 CNV Loss 21882294
nsv457975 CNV Loss 19166990
nsv909167 CNV Gain+Loss 21882294
dgv3344n71 CNV Loss 21882294
dgv3345n71 CNV Loss 21882294
dgv3346n71 CNV Loss 21882294
esv1006218 CNV Insertion 20482838
dgv3347n71 CNV Loss 21882294

Relevant External Links for ASPSCR1 Gene

HapMap Linkage Disequilibrium report
ASPSCR1

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

Disorders for ASPSCR1 Gene

(1) OMIM Diseases for ASPSCR1 Gene (606236)

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.
  • 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).

Relevant External Links for ASPSCR1

Genetic Association Database (GAD)
ASPSCR1
Human Genome Epidemiology (HuGE) Navigator
ASPSCR1
genes like me logo Genes that share disorders with ASPSCR1: view

No data available for Novoseek inferred disease relationships and 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 Res. 2001) 3 4 23
  3. 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 C.M. … Bogan J.S. (J. Biol. Chem. 2012) 3 4
  4. 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 Genet. 2013) 3 4
  5. Chromosome rearrangement at 17q25 and xp11.2 in alveolar soft-part sarcoma: A case report and review of the literature. (PMID: 10506710) Joyama S. … Yoshikawa H. (Cancer 1999) 2 3

Products for ASPSCR1 Gene

Sources for ASPSCR1 Gene

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