Q9BZE9 (ASPC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Tether containing UBX domain for GLUT4

Alternative name(s):
Alveolar soft part sarcoma chromosomal region candidate gene 1 protein
Alveolar soft part sarcoma locus
Renal papillary cell carcinoma protein 17
UBX domain-containing protein 9

Gene names

Name:	ASPSCR1
Synonyms:	ASPL, RCC17, TUG, UBXD9, UBXN9

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	553 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface By similarity.
Subunit structure	Interacts with GLUT4 By similarity.
Subcellular location	Endomembrane system; Peripheral membrane protein By similarity.
Tissue specificity	Ubiquitous. Highly expressed in testis, heart, skeletal muscle and pancreas. Ref.1 Ref.4
Involvement in disease	A chromosomal aberration involving ASPSCR1 is found in patients with alveolar soft part sarcoma. Translocation t(X;17)(p11;q25) with TFE3 forms a ASPSCR1-TFE3 fusion protein. A chromosomal aberration involving ASPSCR1 has been found in two patients with of papillary renal cell carcinoma. Translocation t(X;17)(p11.2;q25).
Sequence similarities	Contains 1 UBX domain.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Chromosomal rearrangement Polymorphism
Disease	Proto-oncogene
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	glucose homeostasis Inferred from electronic annotation. Source: Compara intracellular protein transport Inferred from electronic annotation. Source: Compara regulation of glucose import Inferred from electronic annotation. Source: Compara
Cellular_component	cytosol Inferred from electronic annotation. Source: Compara extrinsic to membrane Inferred from electronic annotation. Source: Compara internal side of plasma membrane Inferred from electronic annotation. Source: Compara perinuclear region of cytoplasm Inferred from electronic annotation. Source: Compara vesicle membrane Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
VCP	P55072	2	EBI-1993677,EBI-355164

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9BZE9-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9BZE9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     451-451: Q → QPQLGDRVAP...AGHKHVGTGR

Isoform 3 (identifier: Q9BZE9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-77: Missing.
     434-434: F → CLSSFGRMDGRGPRCFLTRRCLLSSV

Isoform 4 (identifier: Q9BZE9-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-77: Missing.
     390-425: KVALRVLFPDRYVLQGFFRPSETVGDLRDFVRSHLG → RRSLSLSPRLESVVPSQLTASSASRVQVVLLPQPPK
     426-553: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 553	553	Tether containing UBX domain for GLUT4		PRO_0000249885
Regions
	Domain	386 – 462	77	UBX
	Region	317 – 380	64	Interaction with GLUT4 By similarity
Sites
	Site	311 – 312	2	Breakpoint for translocation to form ASPSCR1-TFE3
Amino acid modifications
	Modified residue	500	1	Phosphoserine Ref.6
Natural variations
	Alternative sequence	1 – 77	77	Missing in isoform 3 and isoform 4.		VSP_020574
	Alternative sequence	390 – 425	36	KVALR…RSHLG → RRSLSLSPRLESVVPSQLTA SSASRVQVVLLPQPPK in isoform 4.		VSP_020575
	Alternative sequence	426 – 553	128	Missing in isoform 4.		VSP_020576
	Alternative sequence	434	1	F → CLSSFGRMDGRGPRCFLTRR CLLSSV in isoform 3.		VSP_020577
	Alternative sequence	451	1	Q → QPQLGDRVAPFTLGPSLKRC LGPEQRTRLPVVGDGGDVDS GRLLFWGPSRGRASPSTGQP PCHPVCRPSSPPSPRPSSGD PSRVKAGHKHVGTGR in isoform 2.		VSP_020578
	Natural variant	252	1	L → Q. Ref.2 Ref.3 Corresponds to variant rs8074498 [ dbSNP | Ensembl ].		VAR_027503
	Natural variant	318	1	V → M. Corresponds to variant rs34085048 [ dbSNP | Ensembl ].		VAR_034745
	Natural variant	487	1	D → E. Corresponds to variant rs13087 [ dbSNP | Ensembl ].		VAR_027504
Experimental info
	Sequence conflict	257	1	G → E in BAB71595. Ref.2
	Sequence conflict	444	1	D → G in BAB71595. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: B013FDF9A48D2E5E	FASTA	553	60,183
	10 20 30 40 50 60 MAAPAGGGGS AVSVLAPNGR RHTVKVTPST VLLQVLEDTC RRQDFNPCEY DLKFQRSVLD 70 80 90 100 110 120 LSLQWRFANL PNNAKLEMVP ASRSREGPEN MVRIALQLDD GSRLQDSFCS GQTLWELLSH 130 140 150 160 170 180 FPQIRECLQH PGGATPVCVY TRDEVTGEAA LRGTTLQSLG LTGGSATIRF VMKCYDPVGK 190 200 210 220 230 240 TPGSLGSSAS AGQAAASAPL PLESGELSRG DLSRPEDADT SGPCCEHTQE KQSTRAPAAA 250 260 270 280 290 300 PFVPFSGGGQ RLGGPPGPTR PLTSSSAKLP KSLSSPGGPS KPKKSKSGQD PQQEQEQERE 310 320 330 340 350 360 RDPQQEQERE RPVDREPVDR EPVVCHPDLE ERLQAWPAEL PDEFFELTVD DVRRRLAQLK 370 380 390 400 410 420 SERKRLEEAP LVTKAFREAQ IKEKLERYPK VALRVLFPDR YVLQGFFRPS ETVGDLRDFV 430 440 450 460 470 480 RSHLGNPELS FYLFITPPKT VLDDHTQTLF QANLFPAALV HLGAEEPAGV YLEPGLLEHA 490 500 510 520 530 540 ISPSAADVLV ARYMSRAAGS PSPLPAPDPA PKSEPAAEEG ALVPPEPIPG TAQPVKRSLG 550 KVPKWLKLPA SKR
	Isoform 2 [UniParc]. Checksum: 27A49239AB88E6AE	FASTA	647	69,990
	10 20 30 40 50 60 MAAPAGGGGS AVSVLAPNGR RHTVKVTPST VLLQVLEDTC RRQDFNPCEY DLKFQRSVLD 70 80 90 100 110 120 LSLQWRFANL PNNAKLEMVP ASRSREGPEN MVRIALQLDD GSRLQDSFCS GQTLWELLSH 130 140 150 160 170 180 FPQIRECLQH PGGATPVCVY TRDEVTGEAA LRGTTLQSLG LTGGSATIRF VMKCYDPVGK 190 200 210 220 230 240 TPGSLGSSAS AGQAAASAPL PLESGELSRG DLSRPEDADT SGPCCEHTQE KQSTRAPAAA 250 260 270 280 290 300 PFVPFSGGGQ RLGGPPGPTR PLTSSSAKLP KSLSSPGGPS KPKKSKSGQD PQQEQEQERE 310 320 330 340 350 360 RDPQQEQERE RPVDREPVDR EPVVCHPDLE ERLQAWPAEL PDEFFELTVD DVRRRLAQLK 370 380 390 400 410 420 SERKRLEEAP LVTKAFREAQ IKEKLERYPK VALRVLFPDR YVLQGFFRPS ETVGDLRDFV 430 440 450 460 470 480 RSHLGNPELS FYLFITPPKT VLDDHTQTLF QPQLGDRVAP FTLGPSLKRC LGPEQRTRLP 490 500 510 520 530 540 VVGDGGDVDS GRLLFWGPSR GRASPSTGQP PCHPVCRPSS PPSPRPSSGD PSRVKAGHKH 550 560 570 580 590 600 VGTGRANLFP AALVHLGAEE PAGVYLEPGL LEHAISPSAA DVLVARYMSR AAGSPSPLPA 610 620 630 640 PDPAPKSEPA AEEGALVPPE PIPGTAQPVK RSLGKVPKWL KLPASKR
	Isoform 3 [UniParc]. Checksum: 46B09A36E32F6EA5	FASTA	501	54,485
	10 20 30 40 50 60 MVPASRSREG PENMVRIALQ LDDGSRLQDS FCSGQTLWEL LSHFPQIREC LQHPGGATPV 70 80 90 100 110 120 CVYTRDEVTG EAALRGTTLQ SLGLTGGSAT IRFVMKCYDP VGKTPGSLGS SASAGQAAAS 130 140 150 160 170 180 APLPLESGEL SRGDLSRPED ADTSGPCCEH TQEKQSTRAP AAAPFVPFSG GGQRLGGPPG 190 200 210 220 230 240 PTRPLTSSSA KLPKSLSSPG GPSKPKKSKS GQDPQQEQEQ ERERDPQQEQ ERERPVDREP 250 260 270 280 290 300 VDREPVVCHP DLEERLQAWP AELPDEFFEL TVDDVRRRLA QLKSERKRLE EAPLVTKAFR 310 320 330 340 350 360 EAQIKEKLER YPKVALRVLF PDRYVLQGFF RPSETVGDLR DFVRSHLGNP ELSFYLCLSS 370 380 390 400 410 420 FGRMDGRGPR CFLTRRCLLS SVITPPKTVL DDHTQTLFQA NLFPAALVHL GAEEPAGVYL 430 440 450 460 470 480 EPGLLEHAIS PSAADVLVAR YMSRAAGSPS PLPAPDPAPK SEPAAEEGAL VPPEPIPGTA 490 500 QPVKRSLGKV PKWLKLPASK R
	Isoform 4 [UniParc]. Checksum: E6CE5BE09E14AA97	FASTA	348	37,910
	10 20 30 40 50 60 MVPASRSREG PENMVRIALQ LDDGSRLQDS FCSGQTLWEL LSHFPQIREC LQHPGGATPV 70 80 90 100 110 120 CVYTRDEVTG EAALRGTTLQ SLGLTGGSAT IRFVMKCYDP VGKTPGSLGS SASAGQAAAS 130 140 150 160 170 180 APLPLESGEL SRGDLSRPED ADTSGPCCEH TQEKQSTRAP AAAPFVPFSG GGQRLGGPPG 190 200 210 220 230 240 PTRPLTSSSA KLPKSLSSPG GPSKPKKSKS GQDPQQEQEQ ERERDPQQEQ ERERPVDREP 250 260 270 280 290 300 VDREPVVCHP DLEERLQAWP AELPDEFFEL TVDDVRRRLA QLKSERKRLE EAPLVTKAFR 310 320 330 340 EAQIKEKLER YPRRSLSLSP RLESVVPSQL TASSASRVQV VLLPQPPK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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." Ladanyi M., Lui M.Y., Antonescu C.R., Krause-Boehm A., Meindl A., Argani P., Healey J.H., Ueda T., Yoshikawa H., Meloni-Ehrig A., Sorensen P.H.B., Mertens F., Mandahl N., van den Berghe H., Sciot R., Dal Cin P., Bridge J. Oncogene 20:48-57(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHROMOSOMAL TRANSLOCATION WITH TFE3, TISSUE SPECIFICITY, INVOLVEMENT IN ASPS.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), VARIANT GLN-252. Tissue: Brain, Heart and Testis.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4), VARIANT GLN-252. Tissue: Eye and Skin.
[4]	"Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas." Heimann P., El Housni H., Ogur G., Weterman M.A.J., Petty E.M., Vassart G. Cancer Res. 61:4130-4135(2001) [PubMed] [Europe PMC] [Abstract] Cited for: CHROMOSOMAL TRANSLOCATION WITH TFE3, TISSUE SPECIFICITY.
[5]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[6]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-500, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF324219 mRNA. Translation: AAK08959.2. AK057403 mRNA. Translation: BAB71472.1. AK057851 mRNA. Translation: BAB71595.1. AK290624 mRNA. Translation: BAF83313.1. BC006152 mRNA. Translation: AAH06152.1. BC018722 mRNA. Translation: AAH18722.1.
IPI	IPI00065276. IPI00332071. IPI00385430. IPI00787285.
RefSeq	NP_001238817.1. NM_001251888.1. NP_076988.1. NM_024083.3.
UniGene	Hs.298351.
3D structure databases
HSSP	HSSP built from PDB template 2AL3 based on UniProtKB Q8VBT9.
ProteinModelPortal	Q9BZE9.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BZE9. 3 interactions.
STRING	9606.ENSP00000302176.
PTM databases
PhosphoSite	Q9BZE9.
Polymorphism databases
DMDM	74717746.
Proteomic databases
PaxDb	Q9BZE9.
PRIDE	Q9BZE9.
Protocols and materials databases
DNASU	79058.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000306729; ENSP00000306625; ENSG00000169696. ENST00000306739; ENSP00000302176; ENSG00000169696. ENST00000580534; ENSP00000462329; ENSG00000169696.
GeneID	79058.
KEGG	hsa:79058.
UCSC	uc002kcx.3. human. uc002kcy.3. human. uc002kda.3. human.
Organism-specific databases
CTD	79058.
GeneCards	GC17P079935.
H-InvDB	HIX0022398.
HGNC	HGNC:13825. ASPSCR1.
HPA	HPA026749.
MIM	606236. gene.
neXtProt	NX_Q9BZE9.
Orphanet	163699. Alveolar soft-part sarcoma.
PharmGKB	PA25058.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG317887.
HOGENOM	HOG000231241.
HOVERGEN	HBG066860.
KO	K15627.
OMA	PNGRRHT.
OrthoDB	EOG49W2FN.
Enzyme and pathway databases
Reactome	REACT_11123. Membrane Trafficking.
Gene expression databases
Bgee	Q9BZE9.
CleanEx	HS_ASPSCR1.
Genevestigator	Q9BZE9.
Family and domain databases
InterPro	IPR021569. TUG. IPR001012. UBX. [Graphical view]
Pfam	PF11470. TUG. 1 hit. PF00789. UBX. 1 hit. [Graphical view]
SMART	SM00166. UBX. 1 hit. [Graphical view]
PROSITE	PS50033. UBX. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	ASPSCR1. human.
GenomeRNAi	79058.
NextBio	67822.
SOURCE	Search...

Entry information

Entry name

ASPC1_HUMAN

Accession

Primary (citable) accession number: Q9BZE9
Secondary accession number(s): A8K3K9 , Q7Z6N7, Q8WV59, Q96LS5, Q96M40

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 19, 2006
Last sequence update:	June 1, 2001
Last modified:	May 1, 2013
This is version 84 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.