ASPSCR1 (ASPSCR1 tether for SLC2A4, UBX domain containing)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 79058
Gene name ASPSCR1 tether for SLC2A4, UBX domain containing
Gene symbol ASPSCR1
Synonyms (NCBI Gene)
ASPCR1ASPLASPSRCC17TUGUBXD9UBXN9
Chromosome 17
Chromosome location 17q25.3
Summary 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 redistribut
miRNA miRNA information provided by mirtarbase database.
5
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
miRTarBase ID miRNA Experiments Reference
MIRT052077 hsa-let-7b-5p CLASH 23622248
MIRT2384532 hsa-miR-3652 CLIP-seq
MIRT2384533 hsa-miR-4430 CLIP-seq
MIRT2384534 hsa-miR-4505 CLIP-seq
MIRT2384535 hsa-miR-4730 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (22)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 18775313, 21900206, 23349634, 25416956, 26496610, 29997244, 31515488, 32296183, 32814053, 33961781, 35271311, 37776851
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606236 13825 ENSG00000169696
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BZE9
Protein name Tether containing UBX domain for GLUT4 (Alveolar soft part sarcoma chromosomal region candidate gene 1 protein) (Alveolar soft part sarcoma locus) (Renal papillary cell carcinoma protein 17) (UBX domain-containing protein 9)
Protein 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. {ECO:00002
PDB 5IFS , 5IFW , 7OAT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11470 TUG-UBL1 15 → 78 TUG ubiquitin-like domain Family
PF00789 UBX 386 → 463 UBX domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highly expressed in testis, heart, skeletal muscle and pancreas. {ECO:0000269|PubMed:11244503, ECO:0000269|PubMed:11358836}.
Sequence 
MAAPAGGGGSAVSVLAPNGRRHTVKVTPSTVLLQVLEDTCRRQDFNPCEYDLKFQRSVLD
LSLQWRFANLPNNAKLEMVPASRSREGPENMVRIALQLDDGSRLQDSFCSGQTLWELLSH
FPQIRECLQHPGGATPVCVYTRDEVTGEAALRGTTLQSLGLTGGSATIRFVMKCYDPVGK
TPGSLGSSASAGQAAASAPLPLESGELSRGDLSRPEDADTSGPCCEHTQEKQSTRAPAAA
PFVPFSGGGQRLGGPPGPTRPLTSSSAKLPKSLSSPGGPSKPKKSKSGQDPQQEQEQERE
RDPQQEQERERPVDREPVDREPVVCHPDLEERLQAWPAELPDEFFELTVDDVRRRLAQLK
SERKRLEEAPLVTKAFREAQIKEKLERYPKVALRVLFPDRYVLQGFFRPSETVGDLRDFV
RSHLGNPELSFYLFITPPKTVLDDHTQTLFQANLFPAALVHLGAEEPAGVYLEPGLLEHA
ISPSAADVLVARYMSRAAGSPSPLPAPDPAPKSEPAAEEGALVPPEPIPGTAQPVKRSLG
KVPKWLKLPASKR
Sequence length 553
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Transcriptional misregulation in cancer  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatocellular carcinoma - rs143008575 RCV006126163
Malignant tumor of esophagus - rs143008575 RCV006126164
Sarcoma - rs143008575 RCV006126165
Thyroid cancer, nonmedullary, 1 - rs143008575 RCV006126166
Show/Hide Text Mining Associations (12)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anodontia Associate 35603147
Calcinosis Associate 29713041
Carcinogenesis Associate 27673450
Carcinoma Renal Cell Associate 11438465, 23828314, 25984679, 34489456
Kidney Neoplasms Associate 11438465, 15992428
Malignant Hyperthermia Associate 37510264
Mental Retardation X Linked 17 Associate 21602817
Neoplasms Associate 11438465, 21602817, 23226201, 26975036, 35848761
Perivascular Epithelioid Cell Neoplasms Associate 35848761
Rhabdomyosarcoma Associate 37510264