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Q9BZE9 (ASPC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 97. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length553 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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. Enhances VCP methylation catalyzed by VCPKMT. Ref.10

Subunit structure

Interacts with GLUT4 By similarity. Interacts with VCPKMT. Ref.10

Subcellular location

Endomembrane system; Peripheral membrane protein By similarity. Cytoplasm. Nucleus Ref.10.

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.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

VCPP550723EBI-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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.8
Chain2 – 553552Tether containing UBX domain for GLUT4
PRO_0000249885

Regions

Domain386 – 46277UBX
Region317 – 38064Interaction with GLUT4 By similarity

Sites

Site311 – 3122Breakpoint for translocation to form ASPSCR1-TFE3

Amino acid modifications

Modified residue21N-acetylalanine Ref.8 Ref.9
Modified residue5001Phosphoserine Ref.7

Natural variations

Alternative sequence1 – 7777Missing in isoform 3 and isoform 4.
VSP_020574
Alternative sequence390 – 42536KVALR…RSHLG → RRSLSLSPRLESVVPSQLTA SSASRVQVVLLPQPPK in isoform 4.
VSP_020575
Alternative sequence426 – 553128Missing in isoform 4.
VSP_020576
Alternative sequence4341F → CLSSFGRMDGRGPRCFLTRR CLLSSV in isoform 3.
VSP_020577
Alternative sequence4511Q → QPQLGDRVAPFTLGPSLKRC LGPEQRTRLPVVGDGGDVDS GRLLFWGPSRGRASPSTGQP PCHPVCRPSSPPSPRPSSGD PSRVKAGHKHVGTGR in isoform 2.
VSP_020578
Natural variant2521L → Q. Ref.2 Ref.3
Corresponds to variant rs8074498 [ dbSNP | Ensembl ].
VAR_027503
Natural variant3181V → M.
Corresponds to variant rs34085048 [ dbSNP | Ensembl ].
VAR_034745
Natural variant4871D → E.
Corresponds to variant rs13087 [ dbSNP | Ensembl ].
VAR_027504

Experimental info

Sequence conflict2571G → E in BAB71595. Ref.2
Sequence conflict4441D → G in BAB71595. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: B013FDF9A48D2E5E

FASTA55360,183
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 27A49239AB88E6AE
Show »

FASTA64769,990
Isoform 3 [UniParc].

Checksum: 46B09A36E32F6EA5
Show »

FASTA50154,485
Isoform 4 [UniParc].

Checksum: E6CE5BE09E14AA97
Show »

FASTA34837,910

References

« Hide '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. expand/collapse author list , 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]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[6]"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].
[7]"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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]"Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
[9]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity."
Cloutier P., Lavallee-Adam M., Faubert D., Blanchette M., Coulombe B.
PLoS Genet. 9:E1003210-E1003210(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN VCP METHYLATION, INTERACTION WITH VCPKMT, SUBCELLULAR LOCATION.
+Additional computationally mapped references.

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.
CCDSCCDS11796.1. [Q9BZE9-1]
CCDS58611.1. [Q9BZE9-2]
RefSeqNP_001238817.1. NM_001251888.1. [Q9BZE9-2]
NP_076988.1. NM_024083.3. [Q9BZE9-1]
UniGeneHs.298351.

3D structure databases

ProteinModelPortalQ9BZE9.
SMRQ9BZE9. Positions 10-85.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122516. 14 interactions.
IntActQ9BZE9. 4 interactions.
MINTMINT-4650542.
STRING9606.ENSP00000302176.

PTM databases

PhosphoSiteQ9BZE9.

Polymorphism databases

DMDM74717746.

Proteomic databases

MaxQBQ9BZE9.
PaxDbQ9BZE9.
PRIDEQ9BZE9.

Protocols and materials databases

DNASU79058.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000306729; ENSP00000306625; ENSG00000169696. [Q9BZE9-2]
ENST00000306739; ENSP00000302176; ENSG00000169696. [Q9BZE9-1]
ENST00000580534; ENSP00000462329; ENSG00000169696. [Q9BZE9-3]
GeneID79058.
KEGGhsa:79058.
UCSCuc002kcx.3. human. [Q9BZE9-1]
uc002kcy.3. human. [Q9BZE9-2]
uc002kda.3. human. [Q9BZE9-3]

Organism-specific databases

CTD79058.
GeneCardsGC17P079935.
H-InvDBHIX0022398.
HGNCHGNC:13825. ASPSCR1.
HPAHPA026749.
MIM606236. gene.
neXtProtNX_Q9BZE9.
Orphanet163699. Alveolar soft-tissue sarcoma.
319308. Translocation renal cell carcinoma.
PharmGKBPA25058.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG317887.
HOGENOMHOG000231241.
HOVERGENHBG066860.
KOK15627.
OMACIYMRDE.
OrthoDBEOG7S7SF9.
PhylomeDBQ9BZE9.
TreeFamTF320363.

Enzyme and pathway databases

ReactomeREACT_11123. Membrane Trafficking.

Gene expression databases

ArrayExpressQ9BZE9.
BgeeQ9BZE9.
CleanExHS_ASPSCR1.
GenevestigatorQ9BZE9.

Family and domain databases

InterProIPR021569. TUG/UBX4.
IPR029071. Ubiquitin-rel_dom.
IPR001012. UBX_dom.
[Graphical view]
PfamPF11470. TUG-UBL1. 1 hit.
PF00789. UBX. 1 hit.
[Graphical view]
SMARTSM00166. UBX. 1 hit.
[Graphical view]
SUPFAMSSF54236. SSF54236. 2 hits.
PROSITEPS50033. UBX. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSASPSCR1. human.
GeneWikiASPSCR1.
GenomeRNAi79058.
NextBio67822.
PROQ9BZE9.
SOURCESearch...

Entry information

Entry nameASPC1_HUMAN
AccessionPrimary (citable) accession number: Q9BZE9
Secondary accession number(s): A8K3K9 expand/collapse secondary AC list , Q7Z6N7, Q8WV59, Q96LS5, Q96M40
Entry history
Integrated into UniProtKB/Swiss-Prot: September 19, 2006
Last sequence update: June 1, 2001
Last modified: July 9, 2014
This is version 97 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM