ASPSCR1 - ASPSCR1 tether for SLC2A4, UBX domain containing Gene

Homo sapiens

Also known as TUG; ASPL; ASPS; RCC17; UBXD9; UBXN9; ASPCR1

Gene ID: 79058 | Gene type: protein coding

About ASPSCR1

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:81,977,629-82,017,406 (from NCBI)

This gene has 21 transcripts (splice variants), 200 orthologues, 1 paralogue and is associated with 83 phenotypes. Ubiquitous expression in placenta (RPKM 4.3), testis (RPKM 4.3) and 25 other tissues.

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]

ASPSCR1 Products(3)

mRNA	Protein	Name
NM_001251888.2	NP_001238817.1	tether containing UBX domain for GLUT4 isoform 2
NM_001330528.2	NP_001317457.1	tether containing UBX domain for GLUT4 isoform 3
NM_024083.4	NP_076988.1	tether containing UBX domain for GLUT4 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18775313	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of protein modification process	IMP IMP: Inferred from mutant phenotype	23349634	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ASPSCR1 Protein Structure

TUG-UBL1

UBX

0
100
200
300
400
500
553 a.a.

Protein Preferred Names

Protein Names

tether containing UBX domain for GLUT4

ASPSCR1, UBX domain containing tether for SLC2A4

Related Diseases

Diseases

Alias

Alveolar Soft Part Sarcoma

ASPS	Alveolar Soft-Part Sarcoma
Sarcoma, Alveolar Soft Part	Alveolar Soft Tissue Sarcoma
Sarcoma Alveolar Soft Part	Adult Alveolar Soft-Part Sarcoma
Childhood Alveolar Soft-Part Sarcoma

Renal Cell Carcinoma, Xp11-Associated

RCCX1	Mit Family Translocation Renal Cell Carcinoma
Renal Cell Carcinoma, Papillary, 1	Carcinoma Associated With Mitf/Tfe Translocation
Translocation Renal Cell Carcinoma	Renal Cell Carcinoma Xp11-Associated
Renal Cell Carcinoma Papillary 1	Carcinoma, Renal Cell, Xp11-Associated

Sarcoma

Connective And Soft Tissue Neoplasm	Tumor Of Soft Tissue And Skeleton
Sarcomas	Sarcoma - Category

Childhood Kidney Cell Carcinoma

Pediatric Renal Cell Carcinoma

Childhood Renal Cell Carcinoma

Perivascular Epithelioid Cell Tumor

Pecoma	Perivascular Epithelioid Cell Neoplasms
Neoplasm With Perivascular Epithelioid Cell Differentiation

Skeletal Muscle Cancer

Malignant Tumor Of Skeletal Muscle

Skeletal Muscle Neoplasm

Perivascular Tumor

Malignant Perivascular Cancer

Muscle Cancer

Myosarcoma	Malignant Neoplasm Of Muscle
Malignant Tumor Of Muscle	Malignant Tumor Of The Muscle
Muscle Neoplasms	Myomatous Neoplasm

Myoblastoma

Benign Granular Cell Tumor

Epithelioid Type Angiomyolipoma

Epithelioid Angiomyolipoma

Collecting Duct Carcinoma

Kidney Medullary Carcinoma	Renal Medullary Carcinoma
Bdc	Bellini Carcinoma
Bellini Duct Carcinoma	Cdc
Collecting Duct Carcinoma Of The Kidney	Renal Cell Adenocarcinoma
Carcinoma Of Renal Collecting Duct	Renal Carcinoma, Collecting Duct Type
Renal Cell Carcinoma	Bellini'S Duct Carcinoma
Renal Collecting Duct Carcinoma	Adenocarcinoma Of Kidney

Renal Cell Carcinoma, Papillary, 1

Papillary Renal Cell Carcinoma	Hereditary Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma, Sporadic	Papillary Renal Cell Adenocarcinoma
RCCP	RCCP1
Renal Cell Carcinoma, Papillary	Renal Cell Carcinoma, Papillary, 1, Familial And Somatic
Chromophil Carcinoma Of Kidney	Papillary Kidney Carcinoma
Sporadic Papillary Renal Cell Carcinoma	Chromophil Renal Cell Carcinoma
Papillary Renal Carcinoma, Malignant -	Papillary Renal Cell Carcinoma, Bilateral -
Papillary Renal Cell Carcinoma, Familial -	Papillary Renal Cell Carcinoma, Multiple -
Papillary Renal Cell Carcinoma, Sporadic -	Renal Adenocarcinoma
Chromophil Rcc	Hprcc
Renal Cell Carcinoma Papillary	Chromophilic Renal Cell Carcinoma
Prcc	Carcinoma, Renal Cell, Papillary, Type 1
Type 1 Papillary Renal Cell Carcinoma	Renal Cell Carcinoma
Hereditary Papillary Renal Carcinoma

Vascular Cancer

Blood Vessel Tumors	Malignant Vascular Neoplasm
Renal Vein Leiomyosarcoma	Vascular Neoplasms
Blood Vessel Neoplasm	Blood Vessel Tumor
Blood Vessel Tumour Disorder	Haemangiomatous Tumour
Leiomyosarcoma Of The Renal Vein	Malignant Great Vessel Tumor
Malignant Tumor Of Pulmonary Artery	Malignant Tumor Of Pulmonary Vein
Malignant Vascular Tumor	Neoplasm Of Great Vessel
Pulmonary Artery Malignant Neoplasm	Pulmonary Vein Malignant Neoplasm
Vascular Tissue Neoplasm	Vascular Tumors
Blood Vessel Cancer	Neoplasms, Vascular Tissue
Malignant Neoplasm Of Great Vessels

Myxoid Liposarcoma

Myxoid/Round Cell Liposarcoma	Liposarcoma, Myxoid
Mrcls	Myxoliposarcoma
MXLIPO	Liposarcoma Myxoid
Liposarcoma

Rhabdomyosarcoma 2

Alveolar Rhabdomyosarcoma	Rhabdomyosarcoma, Alveolar
Rhabdomyosarcoma Alveolar	RMS2
Rmsa	Rhabdomyosarcoma 2, Alveolar
Alveolar Childhood Rhabdomyosarcoma	Arms
Rhabdomyosarcoma, Type 2

Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia

Ibmpfd	Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia
Pagetoid Amyotrophic Lateral Sclerosis	Pagetoid Neuroskeletal Syndrome
Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia	Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia
Multisystem Proteinopathy	Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone
Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia	Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement
Lower Motor Neuron Degeneration With Paget-Like Bone Disease	Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone
Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia

Chromophobe Renal Cell Carcinoma

Chromophobe Adenocarcinoma	Chromophobe Carcinoma Of Kidney
Kidney Chromophobe	Renal Cell Carcinoma, Chromophobe Cell
Crcc	Chrcc
Chromophobe Renal Cell Adenocarcinoma	Chromophobe Renal Carcinoma
Chromophobe Carcinoma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01107	ASPSCR1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ASPSCR1	VGNC	VGNC:38191
Felis catus	ASPSCR1	VGNC	VGNC:98763
Bos taurus	ASPSCR1	VGNC	VGNC:97242
Macaca mulatta	ASPSCR1	VGNC	VGNC:84873
Mus musculus	ASPSCR1	MGD	MGI:1916188
Rattus norvegicus	ASPSCR1	RGD	RGD:1588666

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