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Protein

Tether containing UBX domain for GLUT4

Gene

ASPSCR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.By similarity1 Publication

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-1445148. Translocation of GLUT4 to the plasma membrane.
SIGNORiQ9BZE9.

Names & Taxonomyi

Protein namesi
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 namesi
Name:ASPSCR1
Synonyms:ASPL, RCC17, TUG, UBXD9, UBXN9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:13825. ASPSCR1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

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).

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei311 – 312Breakpoint for translocation to form ASPSCR1-TFE32

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNETi79058.
MalaCardsiASPSCR1.
OpenTargetsiENSG00000169696.
Orphaneti163699. Alveolar soft-tissue sarcoma.
319308. Translocation renal cell carcinoma.
PharmGKBiPA25058.

Polymorphism and mutation databases

BioMutaiASPSCR1.
DMDMi74717746.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002498852 – 553Tether containing UBX domain for GLUT4Add BLAST552

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei184PhosphoserineBy similarity1
Modified residuei275PhosphoserineCombined sources1
Modified residuei500PhosphoserineCombined sources1
Modified residuei502PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9BZE9.
MaxQBiQ9BZE9.
PaxDbiQ9BZE9.
PeptideAtlasiQ9BZE9.
PRIDEiQ9BZE9.

PTM databases

iPTMnetiQ9BZE9.
PhosphoSitePlusiQ9BZE9.

Expressioni

Tissue specificityi

Ubiquitous. Highly expressed in testis, heart, skeletal muscle and pancreas.2 Publications

Gene expression databases

BgeeiENSG00000169696.
CleanExiHS_ASPSCR1.
ExpressionAtlasiQ9BZE9. baseline and differential.
GenevisibleiQ9BZE9. HS.

Organism-specific databases

HPAiHPA026749.

Interactioni

Subunit structurei

Interacts with GLUT4 (By similarity). Interacts with VCPKMT. Interacts with VCP.By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ADAMTSL4Q6UY14-33EBI-1993677,EBI-10173507
HEL-S-70V9HW803EBI-1993677,EBI-10175326
KRT31Q153233EBI-1993677,EBI-948001
KRTAP10-8P604103EBI-1993677,EBI-10171774
NOTCH2NLQ7Z3S93EBI-1993677,EBI-945833
TACC3Q9Y6A53EBI-1993677,EBI-2554984
TCF4P158843EBI-1993677,EBI-533224
VCPP550726EBI-1993677,EBI-355164

Protein-protein interaction databases

BioGridi122516. 47 interactors.
IntActiQ9BZE9. 13 interactors.
MINTiMINT-4650542.
STRINGi9606.ENSP00000302176.

Structurei

3D structure databases

ProteinModelPortaliQ9BZE9.
SMRiQ9BZE9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini386 – 462UBXPROSITE-ProRule annotationAdd BLAST77

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni317 – 380Interaction with GLUT4By similarityAdd BLAST64

Sequence similaritiesi

Contains 1 UBX domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG2699. Eukaryota.
ENOG410XQQK. LUCA.
GeneTreeiENSGT00840000129867.
HOGENOMiHOG000231241.
HOVERGENiHBG066860.
InParanoidiQ9BZE9.
KOiK15627.
OMAiAEEHCLK.
OrthoDBiEOG091G0EB3.
PhylomeDBiQ9BZE9.
TreeFamiTF320363.

Family and domain databases

InterProiIPR021569. TUG-UBL1.
IPR029071. Ubiquitin-rel_dom.
IPR001012. UBX_dom.
[Graphical view]
PfamiPF11470. TUG-UBL1. 1 hit.
PF00789. UBX. 1 hit.
[Graphical view]
SUPFAMiSSF54236. SSF54236. 2 hits.
PROSITEiPS50033. UBX. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BZE9-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MAAPAGGGGS AVSVLAPNGR RHTVKVTPST VLLQVLEDTC RRQDFNPCEY
60 70 80 90 100
DLKFQRSVLD LSLQWRFANL PNNAKLEMVP ASRSREGPEN MVRIALQLDD
110 120 130 140 150
GSRLQDSFCS GQTLWELLSH FPQIRECLQH PGGATPVCVY TRDEVTGEAA
160 170 180 190 200
LRGTTLQSLG LTGGSATIRF VMKCYDPVGK TPGSLGSSAS AGQAAASAPL
210 220 230 240 250
PLESGELSRG DLSRPEDADT SGPCCEHTQE KQSTRAPAAA PFVPFSGGGQ
260 270 280 290 300
RLGGPPGPTR PLTSSSAKLP KSLSSPGGPS KPKKSKSGQD PQQEQEQERE
310 320 330 340 350
RDPQQEQERE RPVDREPVDR EPVVCHPDLE ERLQAWPAEL PDEFFELTVD
360 370 380 390 400
DVRRRLAQLK SERKRLEEAP LVTKAFREAQ IKEKLERYPK VALRVLFPDR
410 420 430 440 450
YVLQGFFRPS ETVGDLRDFV RSHLGNPELS FYLFITPPKT VLDDHTQTLF
460 470 480 490 500
QANLFPAALV HLGAEEPAGV YLEPGLLEHA ISPSAADVLV ARYMSRAAGS
510 520 530 540 550
PSPLPAPDPA PKSEPAAEEG ALVPPEPIPG TAQPVKRSLG KVPKWLKLPA

SKR
Length:553
Mass (Da):60,183
Last modified:June 1, 2001 - v1
Checksum:iB013FDF9A48D2E5E
GO
Isoform 2 (identifier: Q9BZE9-2) [UniParc]FASTAAdd to basket

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

Show »
Length:647
Mass (Da):69,990
Checksum:i27A49239AB88E6AE
GO
Isoform 3 (identifier: Q9BZE9-3) [UniParc]FASTAAdd to basket

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

Show »
Length:501
Mass (Da):54,485
Checksum:i46B09A36E32F6EA5
GO
Isoform 4 (identifier: Q9BZE9-4) [UniParc]FASTAAdd to basket

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.
Show »
Length:348
Mass (Da):37,910
Checksum:iE6CE5BE09E14AA97
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti257G → E in BAB71595 (PubMed:14702039).Curated1
Sequence conflicti444D → G in BAB71595 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027503252L → Q.2 PublicationsCorresponds to variant rs8074498dbSNPEnsembl.1
Natural variantiVAR_034745318V → M.Corresponds to variant rs34085048dbSNPEnsembl.1
Natural variantiVAR_027504487D → E.Corresponds to variant rs13087dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0205741 – 77Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST77
Alternative sequenceiVSP_020575390 – 425KVALR…RSHLG → RRSLSLSPRLESVVPSQLTA SSASRVQVVLLPQPPK in isoform 4. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_020576426 – 553Missing in isoform 4. 1 PublicationAdd BLAST128
Alternative sequenceiVSP_020577434F → CLSSFGRMDGRGPRCFLTRR CLLSSV in isoform 3. 1 Publication1
Alternative sequenceiVSP_020578451Q → QPQLGDRVAPFTLGPSLKRC LGPEQRTRLPVVGDGGDVDS GRLLFWGPSRGRASPSTGQP PCHPVCRPSSPPSPRPSSGD PSRVKAGHKHVGTGR in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS11796.1. [Q9BZE9-1]
CCDS58611.1. [Q9BZE9-2]
CCDS82222.1. [Q9BZE9-3]
RefSeqiNP_001238817.1. NM_001251888.1. [Q9BZE9-2]
NP_001317457.1. NM_001330528.1.
NP_076988.1. NM_024083.3. [Q9BZE9-1]
UniGeneiHs.298351.

Genome annotation databases

EnsembliENST00000306729; ENSP00000306625; ENSG00000169696. [Q9BZE9-2]
ENST00000306739; ENSP00000302176; ENSG00000169696. [Q9BZE9-1]
ENST00000580534; ENSP00000462329; ENSG00000169696. [Q9BZE9-3]
GeneIDi79058.
KEGGihsa:79058.
UCSCiuc002kcx.3. human. [Q9BZE9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS11796.1. [Q9BZE9-1]
CCDS58611.1. [Q9BZE9-2]
CCDS82222.1. [Q9BZE9-3]
RefSeqiNP_001238817.1. NM_001251888.1. [Q9BZE9-2]
NP_001317457.1. NM_001330528.1.
NP_076988.1. NM_024083.3. [Q9BZE9-1]
UniGeneiHs.298351.

3D structure databases

ProteinModelPortaliQ9BZE9.
SMRiQ9BZE9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122516. 47 interactors.
IntActiQ9BZE9. 13 interactors.
MINTiMINT-4650542.
STRINGi9606.ENSP00000302176.

PTM databases

iPTMnetiQ9BZE9.
PhosphoSitePlusiQ9BZE9.

Polymorphism and mutation databases

BioMutaiASPSCR1.
DMDMi74717746.

Proteomic databases

EPDiQ9BZE9.
MaxQBiQ9BZE9.
PaxDbiQ9BZE9.
PeptideAtlasiQ9BZE9.
PRIDEiQ9BZE9.

Protocols and materials databases

DNASUi79058.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000306729; ENSP00000306625; ENSG00000169696. [Q9BZE9-2]
ENST00000306739; ENSP00000302176; ENSG00000169696. [Q9BZE9-1]
ENST00000580534; ENSP00000462329; ENSG00000169696. [Q9BZE9-3]
GeneIDi79058.
KEGGihsa:79058.
UCSCiuc002kcx.3. human. [Q9BZE9-1]

Organism-specific databases

CTDi79058.
DisGeNETi79058.
GeneCardsiASPSCR1.
H-InvDBHIX0022398.
HGNCiHGNC:13825. ASPSCR1.
HPAiHPA026749.
MalaCardsiASPSCR1.
MIMi606236. gene.
neXtProtiNX_Q9BZE9.
OpenTargetsiENSG00000169696.
Orphaneti163699. Alveolar soft-tissue sarcoma.
319308. Translocation renal cell carcinoma.
PharmGKBiPA25058.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2699. Eukaryota.
ENOG410XQQK. LUCA.
GeneTreeiENSGT00840000129867.
HOGENOMiHOG000231241.
HOVERGENiHBG066860.
InParanoidiQ9BZE9.
KOiK15627.
OMAiAEEHCLK.
OrthoDBiEOG091G0EB3.
PhylomeDBiQ9BZE9.
TreeFamiTF320363.

Enzyme and pathway databases

ReactomeiR-HSA-1445148. Translocation of GLUT4 to the plasma membrane.
SIGNORiQ9BZE9.

Miscellaneous databases

ChiTaRSiASPSCR1. human.
GeneWikiiASPSCR1.
GenomeRNAii79058.
PROiQ9BZE9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000169696.
CleanExiHS_ASPSCR1.
ExpressionAtlasiQ9BZE9. baseline and differential.
GenevisibleiQ9BZE9. HS.

Family and domain databases

InterProiIPR021569. TUG-UBL1.
IPR029071. Ubiquitin-rel_dom.
IPR001012. UBX_dom.
[Graphical view]
PfamiPF11470. TUG-UBL1. 1 hit.
PF00789. UBX. 1 hit.
[Graphical view]
SUPFAMiSSF54236. SSF54236. 2 hits.
PROSITEiPS50033. UBX. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiASPC1_HUMAN
AccessioniPrimary (citable) accession number: Q9BZE9
Secondary accession number(s): A8K3K9
, Q7Z6N7, Q8WV59, Q96LS5, Q96M40
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2006
Last sequence update: June 1, 2001
Last modified: November 30, 2016
This is version 120 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.