Tissue expression of ASPSCR1 - Summary - The Human Protein Atlas

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ASPSCR1

TISSUE

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CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
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

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

Protein expression

Cytoplasmic and nuclear expression in most tissues.

DATA RELIABILITY
Data reliability description	Antibody staining mainly consistent with RNA expression data.
Reliability score	Approved based on 1 antibody. HPA026749
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
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 83.38)
Entrez gene	79058
UniProt	Q9BZE9 (UniProt - Evidence at protein level)
neXtProt	NX_Q9BZE9
Antibodypedia	ASPSCR1 antibodies

PROTEIN BROWSER

ASPSCR1-001	ASPSCR1-002	ASPSCR1-003	ASPSCR1-009	ASPSCR1-011	ASPSCR1-012	ASPSCR1-013	ASPSCR1-014	ASPSCR1-018

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
ASPSCR1-001 ENSP00000302176 ENST00000306739	Q9BZE9 [Direct mapping] Tether containing UBX domain for GLUT4 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003674 [molecular_function] GO:0005515 [protein binding] GO:0005575 [cellular_component] GO:0005654 [nucleoplasm] GO:0005886 [plasma membrane] GO:0008150 [biological_process] GO:0012505 [endomembrane system] GO:0033116 [endoplasmic reticulum-Golgi intermediate compartment membrane] GO:0043231 [intracellular membrane-bounded organelle] GO:0061024 [membrane organization] Show all	553 aa 60.2 kDa	No	0
ASPSCR1-002 ENSP00000306625 ENST00000306729	Q9BZE9 [Direct mapping] Tether containing UBX domain for GLUT4 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003674 [molecular_function] GO:0005515 [protein binding] GO:0005575 [cellular_component] GO:0005654 [nucleoplasm] GO:0005829 [cytosol] GO:0005886 [plasma membrane] GO:0006886 [intracellular protein transport] GO:0008150 [biological_process] GO:0009898 [cytoplasmic side of plasma membrane] GO:0012505 [endomembrane system] GO:0012506 [vesicle membrane] GO:0019898 [extrinsic component of membrane] GO:0033116 [endoplasmic reticulum-Golgi intermediate compartment membrane] GO:0042593 [glucose homeostasis] GO:0043231 [intracellular membrane-bounded organelle] GO:0046324 [regulation of glucose import] GO:0048471 [perinuclear region of cytoplasm] GO:0061024 [membrane organization] Show all	647 aa 70 kDa	No	0
ASPSCR1-003 ENSP00000462329 ENST00000580534	Q9BZE9 [Direct mapping] Tether containing UBX domain for GLUT4 Show all	SCAMPI predicted membrane proteins Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0003674 [molecular_function] GO:0005515 [protein binding] GO:0005575 [cellular_component] GO:0005654 [nucleoplasm] GO:0005886 [plasma membrane] GO:0008150 [biological_process] GO:0012505 [endomembrane system] GO:0033116 [endoplasmic reticulum-Golgi intermediate compartment membrane] GO:0043231 [intracellular membrane-bounded organelle] GO:0061024 [membrane organization] Show all	501 aa 54.5 kDa	No	0
ASPSCR1-009 ENSP00000463316 ENST00000581484	J3QL04 [Direct mapping] Tether-containing UBX domain for GLUT4 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005654 [nucleoplasm] GO:0005886 [plasma membrane] GO:0043231 [intracellular membrane-bounded organelle] Show all	307 aa 32.8 kDa	No	0
ASPSCR1-011 ENSP00000463708 ENST00000582019		Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all		4 aa 0.5 kDa	No	0
ASPSCR1-012 ENSP00000464408 ENST00000581647	J3QRW3 [Direct mapping] Tether-containing UBX domain for GLUT4 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all		182 aa 19.8 kDa	No	0
ASPSCR1-013 ENSP00000461984 ENST00000579684	J3KRG1 [Direct mapping] Tether-containing UBX domain for GLUT4 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all		188 aa 21.2 kDa	No	0
ASPSCR1-014 ENSP00000462218 ENST00000582355	J3KRY8 [Direct mapping] Tether-containing UBX domain for GLUT4 Show all	SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005654 [nucleoplasm] GO:0005886 [plasma membrane] GO:0043231 [intracellular membrane-bounded organelle] Show all	353 aa 38.4 kDa	No	0
ASPSCR1-018 ENSP00000461980 ENST00000583744	J3KRF7 [Direct mapping] Tether-containing UBX domain for GLUT4 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] Show all	180 aa 19 kDa	No	0

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The Human Protein Atlas project is funded
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