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Aliases for ASPSCR1 Gene

Aliases for ASPSCR1 Gene

  • Alveolar Soft Part Sarcoma Chromosome Region, Candidate 1 2 3 5
  • 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
  • RCC17 3 4
  • UBXD9 3 4
  • UBXN9 3 4
  • ASPL 3 4
  • TUG 3 4
  • Renal Cell Carcinoma Gene On Chromosome 17 3
  • Renal Cell Carcinoma, Papillary, 17 3
  • ASPCR1 3
  • ASPS 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 advanced sleep-phase syndrome, familial, 2. Among its related pathways are Transcriptional misregulation in cancer and Glucose / Energy Metabolism. An important paralog of this gene is UBXN6.

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

Enhancers for ASPSCR1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ASPSCR1 on UCSC Golden Path with GeneCards custom track

Promoters for ASPSCR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ASPSCR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ASPSCR1 Gene

Chromosome:
17
Start:
81,976,807 bp from pter
End:
82,017,563 bp from pter
Size:
40,757 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 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 & Families for ASPSCR1 Gene

Gene Families for ASPSCR1 Gene

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 :
  • Contains 1 UBX domain.
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.
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 Model Products

CRISPR Products

miRNA for ASPSCR1 Gene

miRTarBase miRNAs that target ASPSCR1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for ASPSCR1 Gene COMPARTMENTS Subcellular localization image for ASPSCR1 gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytosol 3
mitochondrion 2
cytoskeleton 1
endosome 1

Gene Ontology (GO) - Cellular Components for ASPSCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA --
GO:0012506 vesicle membrane IEA --
GO:0019898 extrinsic component of membrane IEA --
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane IEA --
GO:0043231 intracellular membrane-bounded organelle 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 Cell Signaling Technology pathway for ASPSCR1 Gene
1 KEGG 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:0046324 regulation of glucose import IEA --
genes like me logo Genes that share ontologies with ASPSCR1: view

Drugs & Compounds for ASPSCR1 Gene

No Compound Related Data Available

Transcripts for ASPSCR1 Gene

Unigene Clusters for ASPSCR1 Gene

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

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 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, 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 expression patterns with ASPSCR1: view

Protein tissue co-expression partners for ASPSCR1 Gene

- Elite partner

Primer Products

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

Paralogs for ASPSCR1 Gene

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

Variants for ASPSCR1 Gene

Sequence variations from dbSNP and Humsavar for ASPSCR1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs8074498 - 81,996,668(+) GAGAC(A/T)GGGGG nc-transcript-variant, reference, missense
rs13087 - 82,016,855(+) GCCGA(C/T)GTGCT nc-transcript-variant, reference, synonymous-codon
rs34085048 - 82,009,055(+) AGCCC(A/G)TGGAC nc-transcript-variant, reference, missense
rs2277708 -- 81,983,465(+) GGGGC(A/G)TGGAT intron-variant
rs4075239 -- 82,000,266(-) GGCTG(C/G)GAGCC 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

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)

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

MalaCards: The human disease database

(12) MalaCards diseases for ASPSCR1 Gene - From: OMIM, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
alveolar soft-part sarcoma
  • alveolar soft part sarcoma
advanced sleep-phase syndrome, familial, 2
  • advanced sleep phase syndrome, familial, 2
alveolar soft-tissue sarcoma
  • alveolar soft-part sarcoma
translocation renal cell carcinoma
  • carcinoma associated with mitf/tfe translocation
sarcoma
  • connective and soft tissue neoplasm
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ASPC1_HUMAN
  • 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}.
  • 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}.

Relevant External Links for ASPSCR1

Genetic Association Database (GAD)
ASPSCR1
Human Genome Epidemiology (HuGE) Navigator
ASPSCR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASPSCR1
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 67
  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 23
  3. 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
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for ASPSCR1 Gene

Sources for ASPSCR1 Gene

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