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Aspscr1 ASPSCR1 tether for SLC2A4, UBX domain containing [ Mus musculus (house mouse) ]

Gene ID: 68938, updated on 11-Apr-2024

Summary

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Official Symbol
Aspscr1provided by MGI
Official Full Name
ASPSCR1 tether for SLC2A4, UBX domain containingprovided by MGI
Primary source
MGI:MGI:1916188
See related
Ensembl:ENSMUSG00000025142 AllianceGenome:MGI:1916188
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
TUG; ASPC; ASPL; ASPS; RCC17; ASPCR1; 1190006K01Rik
Summary
Acts upstream of or within glucose homeostasis; intracellular protein transport; and regulation of glucose import. Located in several cellular components, including cytoplasmic side of plasma membrane; perinuclear region of cytoplasm; and vesicle membrane. Is extrinsic component of membrane. Human ortholog(s) of this gene implicated in alveolar soft part sarcoma. Orthologous to human ASPSCR1 (ASPSCR1 tether for SLC2A4, UBX domain containing). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 52.7), duodenum adult (RPKM 26.9) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
11 E2; 11 84.41 cM
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (120563878..120600273)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (120672973..120709447)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene myeloid-associated differentiation marker-like 2 Neighboring gene notum palmitoleoyl-protein carboxylesterase Neighboring gene STARR-seq mESC enhancer starr_31365 Neighboring gene STARR-positive B cell enhancer ABC_E472 Neighboring gene centromere protein X Neighboring gene STARR-positive B cell enhancer ABC_E10737 Neighboring gene leucine rich repeat containing 45

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. The glucose transporter 4-regulating protein TUG is essential for highly insulin-responsive glucose uptake in 3T3-L1 adipocytes. Yu C, et al. J Biol Chem, 2007 Mar 9. PMID 17202135, Free PMC Article
  2. Solution structure and backbone dynamics of an N-terminal ubiquitin-like domain in the GLUT4-regulating protein, TUG. Tettamanzi MC, et al. Protein Sci, 2006 Mar. PMID 16501224, Free PMC Article
  3. Enhanced fasting glucose turnover in mice with disrupted action of TUG protein in skeletal muscle. Löffler MG, et al. J Biol Chem, 2013 Jul 12. PMID 23744065, Free PMC Article
  4. TUG is a calpain-10 substrate involved in the translocation of GLUT4 in adipocytes. Pánico P, et al. J Mol Endocrinol, 2020 Oct. PMID 32698137
  5. Coordinated Regulation of Vasopressin Inactivation and Glucose Uptake by Action of TUG Protein in Muscle. Habtemichael EN, et al. J Biol Chem, 2015 Jun 5. PMID 25944897, Free PMC Article

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TUG is a calpain-10 substrate involved in the translocation of GLUT4 in adipocytes.
    Title: TUG is a calpain-10 substrate involved in the translocation of GLUT4 in adipocytes.
  2. Insulin acts through TUG proteins to control IRAP targeting, similar to GLUT4; the activity of vasopressin, an IRAP substrate, is reduced in mice with disrupted TUG action in muscle.
    Title: Coordinated Regulation of Vasopressin Inactivation and Glucose Uptake by Action of TUG Protein in Muscle.
  3. A conditional expression in mice of the fusion gene ASPSCR1-TFE3 from human alveolar soft part sarcoma (ASPS) generated a model that recapitulates the human tumor histologically and by expression profile.
    Title: Modeling alveolar soft part sarcomagenesis in the mouse: a role for lactate in the tumor microenvironment.
  4. Data indicate that insulin stimulates proteolysis of TUG (tether containing a ubiquitin regulatory X (UBX) domain for glucose transporter 4 (GLUT4)) to translocate GLUT4 in muscle.
    Title: Enhanced fasting glucose turnover in mice with disrupted action of TUG protein in skeletal muscle.
  5. Data suggest a model whereby insulin stimulates TUG cleavage to liberate GLUT4 storage vesicles from the Golgi matrix, which promotes GLUT4 translocation to the cell surface and enhances glucose uptake.
    Title: Endoproteolytic cleavage of TUG protein regulates GLUT4 glucose transporter translocation.
  6. TUG traps endocytosed GLUT4 and tethers it intracellularly, and insulin mobilizes this pool of retained GLUT4 by releasing this tether
    Title: Functional cloning of TUG as a regulator of GLUT4 glucose transporter trafficking.
  7. insulin-stimulated dissociation of TUG and GLUT4 as an important action by which insulin stimulates glucose uptake.
    Title: The glucose transporter 4-regulating protein TUG is essential for highly insulin-responsive glucose uptake in 3T3-L1 adipocytes.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Endonuclease-mediated (1) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by MGI

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
  
acts_upstream_of_or_within glucose homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within intracellular protein transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of protein modification process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within regulation of glucose import IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasmic side of plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasmic vesicle membrane TAS
Traceable Author Statement
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  
is_active_in vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in vesicle membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
tether containing UBX domain for GLUT4
Names
alveolar soft part sarcoma chromosomal region candidate gene 1 protein homolog
alveolar soft part sarcoma chromosome region, candidate 1
tether, containing a UBX domain, for GLUT4

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001164224.1 → NP_001157696.1  tether containing UBX domain for GLUT4 isoform 3

    See identical proteins and their annotated locations for NP_001157696.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents use of an alternate promoter and 5' UTR, uses a downstream start codon, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (3) has a shorter N-terminus and lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AK146061, AY349132
    Consensus CDS
    CCDS49008.1
    UniProtKB/Swiss-Prot
    Q8VBT9
    Related
    ENSMUSP00000101766.3, ENSMUST00000106160.9
    Conserved Domains (2) summary
    cd16118
    Location:310 → 361
    UBX2_UBXN9; Ubiquitin regulatory domain X (UBX) 2 found in UBX domain protein 9 (UBXN9, UBXD9, or ASPSCR1) and similar proteins
    cd17075
    Location:13 → 94
    UBX1_UBXN9; Ubiquitin regulatory domain X (UBX) 1 found in UBX domain protein 9 (UBXN9, UBXD9, or ASPSCR1) and similar proteins

  2. NM_001363055.2 → NP_001349984.1  tether containing UBX domain for GLUT4 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL663030
    Conserved Domains (1) summary
    pfam11470
    Location:15 → 78
    TUG-UBL1; TUG ubiquitin-like domain

  3. NM_001363056.1 → NP_001349985.1  tether containing UBX domain for GLUT4 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL663030, AY349133
    Conserved Domains (2) summary
    pfam11470
    Location:4 → 63
    TUG-UBL1; TUG ubiquitin-like domain
    cl00155
    Location:370 → 441
    UBQ; Ubiquitin-like proteins

  4. NM_001425434.1 → NP_001412363.1  tether containing UBX domain for GLUT4 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL663030

  5. NM_001425435.1 → NP_001412364.1  tether containing UBX domain for GLUT4 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AL663030

  6. NM_001425436.1 → NP_001412365.1  tether containing UBX domain for GLUT4 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AL663030

  7. NM_001425437.1 → NP_001412366.1  tether containing UBX domain for GLUT4 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AL663030

  8. NM_001425438.1 → NP_001412367.1  tether containing UBX domain for GLUT4 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AL663030

  9. NM_001425439.1 → NP_001412368.1  tether containing UBX domain for GLUT4 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AL663030

  10. NM_026877.3 → NP_081153.1  tether containing UBX domain for GLUT4 isoform 1

    See identical proteins and their annotated locations for NP_081153.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1), also known as the long isoform.
    Source sequence(s)
    AL663030
    Consensus CDS
    CCDS25751.1
    UniProtKB/Swiss-Prot
    A2ABZ7, A2AC06, Q3UKD1, Q6V7K5, Q8VBT9, Q9CT64
    Related
    ENSMUSP00000026135.9, ENSMUST00000026135.15
    Conserved Domains (2) summary
    pfam11470
    Location:15 → 78
    TUG-UBL1; TUG ubiquitin-like domain
    cl00155
    Location:385 → 456
    UBQ; Ubiquitin-like proteins

  11. NM_198223.2 → NP_937866.1  tether containing UBX domain for GLUT4 isoform 2

    See identical proteins and their annotated locations for NP_937866.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR and uses a downstream start codon, compared to variant 1. The resulting isoform (2), also known as the short isoform, has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK146061, AY349132
    Consensus CDS
    CCDS25752.1
    UniProtKB/Swiss-Prot
    Q8VBT9
    Related
    ENSMUSP00000101765.4, ENSMUST00000106159.10
    Conserved Domains (2) summary
    cd16118
    Location:310 → 382
    UBX2_UBXN9; Ubiquitin regulatory domain X (UBX) 2 found in UBX domain protein 9 (UBXN9, UBXD9, or ASPSCR1) and similar proteins
    cd17075
    Location:13 → 94
    UBX1_UBXN9; Ubiquitin regulatory domain X (UBX) 1 found in UBX domain protein 9 (UBXN9, UBXD9, or ASPSCR1) and similar proteins

RNA

  1. NR_189301.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL663030

  2. NR_189302.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL663030

  3. NR_189303.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL663030

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    120563878..120600273
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036156943.1 → XP_036012836.1  tether containing UBX domain for GLUT4 isoform X2

    Conserved Domains (2) summary
    cd16118
    Location:310 → 382
    UBX2_UBXN9; Ubiquitin regulatory domain X (UBX) 2 found in UBX domain protein 9 (UBXN9, UBXD9, or ASPSCR1) and similar proteins
    cd17075
    Location:13 → 94
    UBX1_UBXN9; Ubiquitin regulatory domain X (UBX) 1 found in UBX domain protein 9 (UBXN9, UBXD9, or ASPSCR1) and similar proteins

  2. XM_006534087.4 → XP_006534150.1  tether containing UBX domain for GLUT4 isoform X2

    See identical proteins and their annotated locations for XP_006534150.1

    UniProtKB/Swiss-Prot
    Q8VBT9
    Conserved Domains (2) summary
    cd16118
    Location:310 → 382
    UBX2_UBXN9; Ubiquitin regulatory domain X (UBX) 2 found in UBX domain protein 9 (UBXN9, UBXD9, or ASPSCR1) and similar proteins
    cd17075
    Location:13 → 94
    UBX1_UBXN9; Ubiquitin regulatory domain X (UBX) 1 found in UBX domain protein 9 (UBXN9, UBXD9, or ASPSCR1) and similar proteins
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8VBT9.1 GenPept UniProtKB/Swiss-Prot:Q8VBT9

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