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

Gene ID: 79058, updated on 15-Jun-2019

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
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

Genomic context

See ASPSCR1 in Genome Data Viewer
Location:
17q25.3
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (81977546..82017669)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79935426..79975282)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene notum, palmitoleoyl-protein carboxylesterase Neighboring gene uncharacterized LOC105371939 Neighboring gene centromere protein X 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ45380

Gene Ontology Provided by GOA

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

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
    5001..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
  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
    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_045351.1 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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    81977550..82017669
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025036.2XP_016880525.1  tether containing UBX domain for GLUT4 isoform X1

  2. XM_017025037.2XP_016880526.1  tether containing UBX domain for GLUT4 isoform X2

  3. XM_011523601.3XP_011521903.1  tether containing UBX domain for GLUT4 isoform X3

    Conserved Domains (2) summary
    pfam11470
    Location:1578
    TUG-UBL1; TUG ubiquitin-like domain
    cl00155
    Location:388460
    UBQ; Ubiquitin-like proteins
  4. XM_011523602.3XP_011521904.1  tether containing UBX domain for GLUT4 isoform X4

    Conserved Domains (2) summary
    pfam11470
    Location:1578
    TUG-UBL1; TUG ubiquitin-like domain
    cl00155
    Location:388460
    UBQ; Ubiquitin-like proteins
  5. XM_017025042.1XP_016880531.1  tether containing UBX domain for GLUT4 isoform X6

  6. XM_017025038.2XP_016880527.1  tether containing UBX domain for GLUT4 isoform X5

  7. XM_017025044.1XP_016880533.1  tether containing UBX domain for GLUT4 isoform X8

    Related
    ENSP00000463992.1, ENST00000584454.5
  8. XM_017025041.2XP_016880530.1  tether containing UBX domain for GLUT4 isoform X5

  9. XM_024450926.1XP_024306694.1  tether containing UBX domain for GLUT4 isoform X7

    Conserved Domains (1) summary
    cl25424
    Location:311383
    TGS; The TGS domain, named after the ThrRS, GTPase, and SpoT/RelA proteins where it occurs, is structurally similar to ubiquitin. TGS is a small domain of about 50 amino acid residues with a predominantly beta-sheet structure. There is no direct information ...
  10. XM_017025039.2XP_016880528.1  tether containing UBX domain for GLUT4 isoform X5

  11. XM_017025040.2XP_016880529.1  tether containing UBX domain for GLUT4 isoform X5

RNA

  1. XR_001752618.2 RNA Sequence

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