ASPSCR1

GENERAL INFORMATION

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Gene name

ASPSCR1

Gene description

Alveolar soft part sarcoma chromosome region, candidate 1

Protein class

Cancer-related genes
Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

9
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Most normal tissues showed weak to moderate cytoplasmic and/or nuclear staining. Ovarian follicle cells displayed strong cytoplasmic immunoreactivity.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA026749
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

ASPSCR1 (HGNC Symbol)

Synonyms

ASPL, ASPS, UBXD9, UBXN9

Description

Alveolar soft part sarcoma chromosome region, candidate 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

17

Cytoband

q25.3

Chromosome location (bp)

81976807 - 82017406

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000169696 (version 78.38)

Entrez gene

79058

UniProt

Q9BZE9 (UniProt - Evidence at protein level)

neXtProt

NX_Q9BZE9

Antibodypedia

ASPSCR1 antibodies


PROTEIN BROWSER

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ENST00000306729
 
ENST00000306739
 
ENST00000579684
 
ENST00000580534
 
ENST00000581484
 
ENST00000581647
 
ENST00000582019
 
ENST00000582355
 
ENST00000583744
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ASPSCR1-001 ENSP00000302176
ENST00000306739
Q9BZE9
Show all »
Show » Show » 553 60.2 No 0
ASPSCR1-002 ENSP00000306625
ENST00000306729
Q9BZE9
Show all »
Show » Show » 647 70 No 0
ASPSCR1-003 ENSP00000462329
ENST00000580534
Q9BZE9
Show all »
Show » Show » 501 54.5 No 0
ASPSCR1-009 ENSP00000463316
ENST00000581484
J3QL04
Show all »
Show » 307 32.8 No 0
ASPSCR1-011 ENSP00000463708
ENST00000582019
Show » 4 0.5 No 0
ASPSCR1-012 ENSP00000464408
ENST00000581647
J3QRW3
Show all »
Show » 182 19.8 No 0
ASPSCR1-013 ENSP00000461984
ENST00000579684
Show » 188 21.2 No 0
ASPSCR1-014 ENSP00000462218
ENST00000582355
J3KRY8
Show all »
Show » Show » 353 38.4 No 0
ASPSCR1-018 ENSP00000461980
ENST00000583744
J3KRF7
Show all »
Show » Show » 180 19 No 0