ASPSCR1 - ASPSCR1 tether for SLC2A4, UBX domain containing Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79058

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	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18775313	GOA

Biological Process GO Annotation	Evidence	Verweise	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

ASPSCR1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	ASPSCR1	Q9BZE9	KRTAP10-8	Homo sapiens	P60410	Validated Y2H	25416956
Intra	ASPSCR1	Q9BZE9	KRTAP10-8	Homo sapiens	P60410	Y2H Array	25416956
Intra	ASPSCR1	Q9BZE9	ADAMTSL4	Homo sapiens	Q6UY14-3	Y2H Prey Pooling	25416956
Intra	ASPSCR1	Q9BZE9	ADAMTSL4	Homo sapiens	Q6UY14-3	Y2H Array	25416956
Intra	ASPSCR1	Q9BZE9	KRTAP1-1	Homo sapiens	Q07627	Y2H Array	32296183
Intra	ASPSCR1	Q9BZE9	KRTAP1-1	Homo sapiens	Q07627	Y2H Prey Pooling	32296183
Intra	ASPSCR1	Q9BZE9	TACC3	Homo sapiens	Q9Y6A5	Y2H Prey Pooling	25416956
Intra	ASPSCR1	Q9BZE9	VCP	Homo sapiens	P55072	Lumier	29997244
Intra	ASPSCR1	Q9BZE9	VCP	Homo sapiens	P55072	Y2H Prey Pooling	25416956
Intra	ASPSCR1	Q9BZE9	VCP	Homo sapiens	P55072	Validated Y2H	32814053
Intra	ASPSCR1	Q9BZE9	VCP	Homo sapiens	P55072	Y2H Prey Pooling	32296183
Intra	ASPSCR1	Q9BZE9	VCP	Homo sapiens	P55072	Y2H Array	32814053
Intra	ASPSCR1	Q9BZE9	VCP	Homo sapiens	P55072	Anti Tag CoIP	18775313
Intra	ASPSCR1	Q9BZE9	VCP	Homo sapiens	P55072	Y2H Pooling	32814053
Intra	ASPSCR1	Q9BZE9	VCP	Homo sapiens	P55072	Y2H Array	32296183
Intra	ASPSCR1	Q9BZE9	VCP	Homo sapiens	P55072	BRET	29997244
Intra	ASPSCR1	Q9BZE9	TCF4	Homo sapiens	P15884	Y2H Prey Pooling	25416956
Intra	ASPSCR1	Q9BZE9	INCA1	Homo sapiens	Q0VD86	Y2H Array	32296183
Intra	ASPSCR1	Q9BZE9	INCA1	Homo sapiens	Q0VD86	Y2H Prey Pooling	32296183
Intra	ASPSCR1	Q9BZE9	CLK2	Homo sapiens	P49760	Y2H Prey Pooling	32296183
Intra	ASPSCR1	Q9BZE9	CLK2	Homo sapiens	P49760	Y2H Array	32296183
Intra	ASPSCR1	Q9BZE9	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Prey Pooling	25416956
Intra	ASPSCR1	Q9BZE9	NOTCH2NLA	Homo sapiens	Q7Z3S9	Validated Y2H	25416956
Intra	ASPSCR1	Q9BZE9	KRT31	Homo sapiens	Q15323	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

ASPSCR1 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P84774	TUG Antibody (YA4471)	WB, ELISA	Mouse
HY-P84774A	TUG Antibody (YA4471)(PBS only)	WB, ELISA	Mouse
HY-P85401	TUG Antibody (YA5093)	WB; IHC-P; IHC-F; IF-Tissue	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS01107	ASPSCR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	ASPSCR1	NCBI