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

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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PEComa with ASPSCR1::TFE3 fusion: expanding the molecular genetic spectrum of TFE3-rearranged PEComa with an emphasis on overlap with alveolar soft part sarcoma.
Title: PEComa with ASPSCR1::TFE3 fusion: expanding the molecular genetic spectrum of TFE3-rearranged PEComa with an emphasis on overlap with alveolar soft part sarcoma.
The intracellular helical bundle of human glucose transporter GLUT4 is important for complex formation with ASPL.
Title: The intracellular helical bundle of human glucose transporter GLUT4 is important for complex formation with ASPL.
Structural remodeling of AAA+ ATPase p97 by adaptor protein ASPL facilitates posttranslational methylation by METTL21D.
Title: Structural remodeling of AAA+ ATPase p97 by adaptor protein ASPL facilitates posttranslational methylation by METTL21D.
Ubiquitin-like processing of TUG proteins as a mechanism to regulate glucose uptake and energy metabolism in fat and muscle.
Title: Ubiquitin-like processing of TUG proteins as a mechanism to regulate glucose uptake and energy metabolism in fat and muscle.
Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma.
Title: Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma.
Common mode of remodeling of human and Arabidopsis thaliana AAA ATPases p97/CDC48 by their disassembling cofactors ASPL/PUX1 has been described.
Title: Common Mode of Remodeling AAA ATPases p97/CDC48 by Their Disassembling Cofactors ASPL/PUX1.
By morphologic, immunohistochemical, genetic, and prognostic similarities, alveolar soft-part sarcoma with the ASPSCR1-TFE3 gene fusion has a closer relationship with Xp11 neoplasm with melanocytic differentiation/TFE3 rearrangement-associated PEComa/melanotic Xp11 translocation renal cancer/melanotic Xp11 neoplasm
Title: Xp11 Translocation Renal Cell Carcinoma and the Mesenchymal Counterparts: An Evolving Concept with Novel Insights on Clinicopathologic Features, Prognosis, Treatment, and Classification.
ASPL efficiently promotes p97 hexamer disassembly, resulting in the formation of stable p97:ASPL. Overproduction of ASPL disrupts p97 hexamer function in endoplasmic reticulum-associated protein degradation.
Title: Quantitative interaction mapping reveals an extended UBX domain in ASPL that disrupts functional p97 hexamers.
These results show that ASPL-TFE3 regulates cell cycle progression and induces cellular senescence by up-regulating p21 expression.
Title: ASPL-TFE3 Oncoprotein Regulates Cell Cycle Progression and Induces Cellular Senescence by Up-Regulating p21.
Studies indicate that alveolar soft part sarcoma showed a specific chromosomal alteration, der(17)t(X:17)(p11:q25), resulting in the fusion of the TFE3 transcription factor gene (Xp11) with alveolar soft part sarcoma critical region 1 (ASPSCR1) at 17q25.
Title: Alveolar Soft Part Sarcoma.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Alveolar soft part sarcoma MedGen: C0206657 OMIM: 606243 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79793 (e-PCR)
- UniSTS:85347

D17S704 (e-PCR)
- UniSTS:49126

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

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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)

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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.

Genomic

NG_030375.2 RefSeqGene

Range

5080..44857

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001251888.2 → NP_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:15 → 78

TUG-UBL1; TUG ubiquitin-like domain

cl00155
Location:388 → 449

UBQ; Ubiquitin-like proteins
NM_001330528.2 → NP_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:314 → 411

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
NM_024083.4 → NP_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:15 → 78

TUG-UBL1; TUG ubiquitin-like domain

cl00155
Location:388 → 460

UBQ; Ubiquitin-like proteins

RNA

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