ASPSCR1

Protein-coding gene in the species Homo sapiens

ASPSCR1

Available structures

PDB

Ortholog search: PDBe RCSB

List of PDB id codes
2AL3

Identifiers

Aliases

ASPSCR1, ASPCR1, ASPL, ASPS, RCC17, TUG, UBXD9, UBXN9, alveolar soft part sarcoma chromosome region, candidate 1, UBX domain containing tether for SLC2A4, ASPSCR1 tether for SLC2A4, UBX domain containing

External IDs

OMIM: 606236; MGI: 1916188; HomoloGene: 41550; GeneCards: ASPSCR1; OMA:ASPSCR1 - orthologs

Gene location (Human)

Chr.	Chromosome 17 (human)^[1]

Band	17q25.3	Start	81,976,807 bp^[1]
Band	17q25.3	End	82,017,406 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 11 (mouse)^[2]

Band	11\|11 E2	Start	120,563,799 bp^[2]
Band	11\|11 E2	End	120,600,273 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

right lobe of liver

apex of heart

anterior pituitary

right hemisphere of cerebellum

muscle of thigh

right lobe of thyroid gland

left lobe of thyroid gland

gastrocnemius muscle

right testis

gonad

Top expressed in

spermatid

spermatocyte

granulocyte

right kidney

seminiferous tubule

yolk sac

duodenum

muscle of thigh

left lobe of liver

More reference expression data

BioGPS

n/a

Gene ontology
Molecular function	protein binding
Cellular component	extrinsic component of membrane cytoplasm perinuclear region of cytoplasm membrane cytosol cytoplasmic side of plasma membrane plasma membrane endoplasmic reticulum-Golgi intermediate compartment membrane intracellular membrane-bounded organelle endomembrane system nucleus nucleoplasm vesicle membrane
Biological process	intracellular protein transport glucose homeostasis regulation of glucose import positive regulation of protein modification process
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


79058


68938

Ensembl


ENSG00000169696


ENSMUSG00000025142

UniProt


Q9BZE9


Q8VBT9

RefSeq (mRNA)


NM_001251888 NM_024083 NM_001330528


NM_001164224 NM_026877 NM_198223 NM_001363055 NM_001363056

RefSeq (protein)


NP_001238817 NP_001317457 NP_076988


NP_001157696 NP_081153 NP_937866 NP_001349984 NP_001349985

Location (UCSC)

Chr 17: 81.98 – 82.02 Mb

Chr 11: 120.56 – 120.6 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Tether containing UBX domain for GLUT4 (TUG) is a protein that in humans is encoded by the ASPSCR1 gene.^[5]^[6]^[7]

This gene is a candidate gene for alveolar soft part sarcoma (ASPS). It has been found that ASPSCR1 can undergo oncogenic rearrangement with transcription factor TFE3 gene, creating an aberrant gene that is a stronger transcriptional activator than TFE3 alone.^[8] This fusion oncogene encodes for a chimeric transcription factor, which is responsible for the production of multiple molecules that contribute to ASPS and also to renal cell carcinomas.^[9] Several alternatively spliced transcript variants of this gene have been described, but their full length nature has not been determined.^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000169696 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000025142 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Ladanyi M, Lui MY, Antonescu CR, Krause-Boehm A, Meindl A, Argani P, Healey JH, Ueda T, Yoshikawa H, Meloni-Ehrig A, Sorensen PH, Mertens F, Mandahl N, van den Berghe H, Sciot R, Dal Cin P, Bridge J (Mar 2001). "The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25". Oncogene. 20 (1): 48–57. doi:10.1038/sj.onc.1204074. PMID 11244503.
^ Joyama S, Ueda T, Shimizu K, Kudawara I, Mano M, Funai H, Takemura K, Yoshikawa H (Oct 1999). "Chromosome rearrangement at 17q25 and xp11.2 in alveolar soft-part sarcoma: A case report and review of the literature". Cancer. 86 (7): 1246–50. doi:10.1002/(SICI)1097-0142(19991001)86:7<1246::AID-CNCR20>3.0.CO;2-4. PMID 10506710. S2CID 44905777.
^ ^a ^b "Entrez Gene: ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1".
^ Kobos R, Nagai M, Tsuda M, Merl MY, Saito T, Laé M, Mo Q, Olshen A, Lianoglou S, Leslie C, Ostrovnaya I, Antczak C, Djaballah H, Ladanyi M (Jan 2013). "Combining integrated genomics and functional genomics to dissect the biology of a cancer-associated, aberrant transcription factor, the ASPSCR1-TFE3 fusion oncoprotein". The Journal of Pathology. 229 (5): 743–754. doi:10.1002/path.4158. PMC 4083568. PMID 23288701.
^ Lazar AJ, Lahat G, Myers SE, Smith KD, Changye Z, Wei-Lien W, Lopez-Terrada D, Lev D (Dec 2009). "Validation of potential therapeutic targets in alveolar soft part sarcoma: an immunohistochemical study utilizing tissue microarray". Histopathology. 55 (6): 750–755. doi:10.1111/j.1365-2559.2009.03436.x. PMID 20002771. S2CID 23287961.

External links

Human ASPSCR1 genome location and ASPSCR1 gene details page in the UCSC Genome Browser.

Heimann P, El Housni H, Ogur G, et al. (2001). "Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas". Cancer Res. 61 (10): 4130–5. PMID 11358836.
Argani P, Antonescu CR, Illei PB, et al. (2001). "Primary renal neoplasms with the ASPL-TFE3 gene fusion of alveolar soft part sarcoma: a distinctive tumor entity previously included among renal cell carcinomas of children and adolescents". Am. J. Pathol. 159 (1): 179–92. doi:10.1016/S0002-9440(10)61684-7. PMC 1850400. PMID 11438465.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Bogan JS, Hendon N, McKee AE, et al. (2003). "Functional cloning of TUG as a regulator of GLUT4 glucose transporter trafficking". Nature. 425 (6959): 727–33. Bibcode:2003Natur.425..727B. doi:10.1038/nature01989. PMID 14562105. S2CID 4417524.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.