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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (11)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma - ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus - ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (42)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ablepharon Ablepharon BEFREE 30301382
★★★★★
★☆☆☆☆
Found in Text Mining only
Alveolar Soft Part Sarcoma Alveolar Sarcoma BEFREE 11244503, 11438465, 15952162, 17283122, 17543078, 18094412, 18382356, 18713311, 18714394, 19472090, 19636271, 20073616, 21279521, 21519815, 21552147
View all (16 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
Alveolar Soft Part Sarcoma Alveolar Sarcoma ORPHANET_DG 21279521
★★★★★
★☆☆☆☆
Found in Text Mining only
Alveolar Soft Part Sarcoma Alveolar Sarcoma CTD_human_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Alveolar Soft Part Sarcoma Alveolar Sarcoma HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Alveolar soft tissue sarcoma Alveolar Sarcoma Orphanet
★★★★★
★☆☆☆☆
Found in Text Mining only
Anodontia Anodontia Pubtator 35603147 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Calcinosis Calcinosis Pubtator 29713041 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 27673450 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 12459622, 12917640, 15316311, 20952280, 21602817
★★★★★
★☆☆☆☆
Found in Text Mining only