ASPSCR1 (ASPSCR1 tether for SLC2A4, UBX domain containing)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79058
Gene name Gene Name - the full gene name approved by the HGNC.
ASPSCR1 tether for SLC2A4, UBX domain containing
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ASPSCR1
Synonyms (NCBI Gene) Gene synonyms aliases
ASPCR1, ASPL, ASPS, RCC17, TUG, UBXD9, UBXN9
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
Summary Summary of gene provided in NCBI Entrez 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 redistribut
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606236 13825 ENSG00000169696
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Insomnia Insomnia N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Restless Legs Syndrome Restless legs syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease 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