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    ASPSCR1 ASPSCR1 tether for SLC2A4, UBX domain containing [ Homo sapiens (human) ]

    Gene ID: 79058, updated on 17-Jun-2024

    Summary

    Official Symbol
    ASPSCR1provided by HGNC
    Official Full Name
    ASPSCR1 tether for SLC2A4, UBX domain containingprovided by HGNC
    Primary source
    HGNC:HGNC:13825
    See related
    Ensembl:ENSG00000169696 MIM:606236; AllianceGenome:HGNC:13825
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TUG; ASPL; ASPS; RCC17; UBXD9; UBXN9; ASPCR1
    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 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]
    Expression
    Ubiquitous expression in placenta (RPKM 4.3), testis (RPKM 4.3) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ASPSCR1 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81977629..82017406)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82844788..82884565)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79935505..79975282)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79914359-79914943 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79914944-79915527 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr17:79917211-79917773 and GRCh37_chr17:79917774-79918336 Neighboring gene notum, palmitoleoyl-protein carboxylesterase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9175 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79925163-79925740 Neighboring gene uncharacterized LOC124904087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9177 Neighboring gene uncharacterized LOC105371939 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79934117-79934890 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79934891-79935662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79947643-79948352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79949063-79949770 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79951899-79952606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79958937-79959584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79961033-79961554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79961555-79962076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79962077-79962598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79963388-79963894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79966024-79966524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79972873-79973594 Neighboring gene Sharpr-MPRA regulatory region 10297 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79974318-79975039 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79979009-79979681 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79981231-79982154 Neighboring gene centromere protein X Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79987649-79988172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9180 Neighboring gene leucine rich repeat containing 45

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ45380

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in glucose homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of protein modification process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of glucose import IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasmic side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endomembrane system IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum-Golgi intermediate compartment membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    is_active_in vesicle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    tether containing UBX domain for GLUT4
    Names
    ASPSCR1, UBX domain containing tether for SLC2A4
    UBX domain protein 9
    UBX domain-containing protein 9
    alveolar soft part sarcoma chromosomal region candidate gene 1 protein
    alveolar soft part sarcoma chromosome region, candidate 1
    alveolar soft part sarcoma locus
    renal cell carcinoma gene on chromosome 17
    renal cell carcinoma, papillary, 17
    renal papillary cell carcinoma protein 17

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_030375.2 RefSeqGene

      Range
      5080..44857
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001251888.2NP_001238817.1  tether containing UBX domain for GLUT4 isoform 2

      See identical proteins and their annotated locations for NP_001238817.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (2) is longer than isoform 1.
      Source sequence(s)
      AF324219, AK057403, AK290624
      Consensus CDS
      CCDS58611.1
      UniProtKB/Swiss-Prot
      Q9BZE9
      Related
      ENSP00000306625.7, ENST00000306729.11
      Conserved Domains (2) summary
      pfam11470
      Location:1578
      TUG-UBL1; TUG ubiquitin-like domain
      cl00155
      Location:388449
      UBQ; Ubiquitin-like proteins
    2. NM_001330528.2NP_001317457.1  tether containing UBX domain for GLUT4 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC137723, AC145207, AF324219
      Consensus CDS
      CCDS82222.1
      UniProtKB/Swiss-Prot
      Q9BZE9
      Related
      ENSP00000462329.1, ENST00000580534.5
      Conserved Domains (2) summary
      cd16118
      Location:314411
      UBX2_UBXN9; Ubiquitin regulatory domain X (UBX) 2 found in UBX domain protein 9 (UBXN9, UBXD9, or ASPSCR1) and similar proteins
      cd17075
      Location:1394
      UBX1_UBXN9; Ubiquitin regulatory domain X (UBX) 1 found in UBX domain protein 9 (UBXN9, UBXD9, or ASPSCR1) and similar proteins
    3. NM_024083.4NP_076988.1  tether containing UBX domain for GLUT4 isoform 1

      See identical proteins and their annotated locations for NP_076988.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the predominant protein (isoform 1).
      Source sequence(s)
      AF324219, AK290624
      Consensus CDS
      CCDS11796.1
      UniProtKB/Swiss-Prot
      A8K3K9, Q7Z6N7, Q8WV59, Q96LS5, Q96M40, Q9BZE9
      Related
      ENSP00000302176.4, ENST00000306739.9
      Conserved Domains (2) summary
      pfam11470
      Location:1578
      TUG-UBL1; TUG ubiquitin-like domain
      cl00155
      Location:388460
      UBQ; Ubiquitin-like proteins

    RNA

    1. NR_045351.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal exon in the 5' region, which results in a frame-shift and premature translation termination, compared to variant 1. The resulting transcript is a nonsense-mediated mRNA decay candidate.
      Source sequence(s)
      AF324219, AK057403, AK057851, AK290624

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      81977629..82017406
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001752618.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      82844788..82884565
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008484932.1 RNA Sequence