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

Summary

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

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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.

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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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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)

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

Status: VALIDATED

Source sequence(s)

AL663030
NM_001425435.1 → NP_001412364.1 tether containing UBX domain for GLUT4 isoform 6

Status: VALIDATED

Source sequence(s)

AL663030
NM_001425436.1 → NP_001412365.1 tether containing UBX domain for GLUT4 isoform 7

Status: VALIDATED

Source sequence(s)

AL663030
NM_001425437.1 → NP_001412366.1 tether containing UBX domain for GLUT4 isoform 8

Status: VALIDATED

Source sequence(s)

AL663030
NM_001425438.1 → NP_001412367.1 tether containing UBX domain for GLUT4 isoform 9

Status: VALIDATED

Source sequence(s)

AL663030
NM_001425439.1 → NP_001412368.1 tether containing UBX domain for GLUT4 isoform 10

Status: VALIDATED

Source sequence(s)

AL663030
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
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

NR_189301.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL663030
NR_189302.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL663030
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

NC_000077.7 Reference GRCm39 C57BL/6J

Range

120563878..120600273

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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