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Protein

Tether containing UBX domain for GLUT4

Gene

ASPSCR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Enzyme and pathway databases

ReactomeiR-HSA-1445148 Translocation of SLC2A4 (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

EuPathDBiHostDB:ENSG00000169696.15
HGNCiHGNC:13825 ASPSCR1
MIMi606236 gene
neXtProtiNX_Q9BZE9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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.1 Publication
A chromosomal aberration involving ASPSCR1 has been found in two patients with of papillary renal cell carcinoma. Translocation t(X;17)(p11.2;q25).1 Publication

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 MiT family 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
ProteomicsDBi79824
79825 [Q9BZE9-2]
79826 [Q9BZE9-3]
79827 [Q9BZE9-4]

PTM databases

iPTMnetiQ9BZE9
PhosphoSitePlusiQ9BZE9

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000169696 Expressed in 90 organ(s), highest expression level in liver
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

Protein-protein interaction databases

BioGridi122516, 53 interactors
IntActiQ9BZE9, 15 interactors
MINTiQ9BZE9
STRINGi9606.ENSP00000302176

Structurei

Secondary structure

1553
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

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

Phylogenomic databases

eggNOGiKOG2699 Eukaryota
ENOG410XQQK LUCA
GeneTreeiENSGT00910000144171
HOGENOMiHOG000231241
HOVERGENiHBG066860
InParanoidiQ9BZE9
KOiK15627
OMAiNNCVLEM
OrthoDBiEOG091G0EB3
PhylomeDBiQ9BZE9
TreeFamiTF320363

Family and domain databases

InterProiView protein in InterPro
IPR021569 TUG-UBL1
IPR029071 Ubiquitin-like_domsf
IPR001012 UBX_dom
PfamiView protein in Pfam
PF11470 TUG-UBL1, 1 hit
PF00789 UBX, 1 hit
SUPFAMiSSF54236 SSF54236, 2 hits
PROSITEiView protein in PROSITE
PS50033 UBX, 1 hit

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

This entry has 4 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KRY8J3KRY8_HUMAN
Tether-containing UBX domain for GL...
ASPSCR1
353Annotation score:
J3QL04J3QL04_HUMAN
Tether-containing UBX domain for GL...
ASPSCR1
307Annotation score:
J3QR12J3QR12_HUMAN
Tether-containing UBX domain for GL...
ASPSCR1
470Annotation score:
J3QRW3J3QRW3_HUMAN
Tether-containing UBX domain for GL...
ASPSCR1
182Annotation score:
C9JAL9C9JAL9_HUMAN
Tether-containing UBX domain for GL...
ASPSCR1
58Annotation score:
J3KRF7J3KRF7_HUMAN
Tether-containing UBX domain for GL...
ASPSCR1
179Annotation score:
J3KRG1J3KRG1_HUMAN
Tether-containing UBX domain for GL...
ASPSCR1
188Annotation score:
J3QR50J3QR50_HUMAN
Tether-containing UBX domain for GL...
ASPSCR1
160Annotation score:

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 → Q2 PublicationsCorresponds to variant dbSNP:rs8074498Ensembl.1
Natural variantiVAR_034745318V → M. Corresponds to variant dbSNP:rs34085048Ensembl.1
Natural variantiVAR_027504487D → E. Corresponds to variant dbSNP:rs13087Ensembl.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 [Q9BZE9-3]
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

Similar proteinsi

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 [Q9BZE9-3]
NP_076988.1, NM_024083.3 [Q9BZE9-1]
UniGeneiHs.298351

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5IFSX-ray2.46A/C317-553[»]
5IFWX-ray3.40A317-504[»]
ProteinModelPortaliQ9BZE9
SMRiQ9BZE9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122516, 53 interactors
IntActiQ9BZE9, 15 interactors
MINTiQ9BZE9
STRINGi9606.ENSP00000302176

PTM databases

iPTMnetiQ9BZE9
PhosphoSitePlusiQ9BZE9

Polymorphism and mutation databases

BioMutaiASPSCR1
DMDMi74717746

Proteomic databases

EPDiQ9BZE9
MaxQBiQ9BZE9
PaxDbiQ9BZE9
PeptideAtlasiQ9BZE9
PRIDEiQ9BZE9
ProteomicsDBi79824
79825 [Q9BZE9-2]
79826 [Q9BZE9-3]
79827 [Q9BZE9-4]

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
EuPathDBiHostDB:ENSG00000169696.15
GeneCardsiASPSCR1
H-InvDBiHIX0022398
HGNCiHGNC:13825 ASPSCR1
HPAiHPA026749
MalaCardsiASPSCR1
MIMi606236 gene
neXtProtiNX_Q9BZE9
OpenTargetsiENSG00000169696
Orphaneti163699 Alveolar soft tissue sarcoma
319308 MiT family translocation renal cell carcinoma
PharmGKBiPA25058
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2699 Eukaryota
ENOG410XQQK LUCA
GeneTreeiENSGT00910000144171
HOGENOMiHOG000231241
HOVERGENiHBG066860
InParanoidiQ9BZE9
KOiK15627
OMAiNNCVLEM
OrthoDBiEOG091G0EB3
PhylomeDBiQ9BZE9
TreeFamiTF320363

Enzyme and pathway databases

ReactomeiR-HSA-1445148 Translocation of SLC2A4 (GLUT4) to the plasma membrane
SIGNORiQ9BZE9

Miscellaneous databases

ChiTaRSiASPSCR1 human
GeneWikiiASPSCR1
GenomeRNAii79058
PROiPR:Q9BZE9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000169696 Expressed in 90 organ(s), highest expression level in liver
CleanExiHS_ASPSCR1
ExpressionAtlasiQ9BZE9 baseline and differential
GenevisibleiQ9BZE9 HS

Family and domain databases

InterProiView protein in InterPro
IPR021569 TUG-UBL1
IPR029071 Ubiquitin-like_domsf
IPR001012 UBX_dom
PfamiView protein in Pfam
PF11470 TUG-UBL1, 1 hit
PF00789 UBX, 1 hit
SUPFAMiSSF54236 SSF54236, 2 hits
PROSITEiView protein in PROSITE
PS50033 UBX, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiASPC1_HUMAN
AccessioniPrimary (citable) accession number: Q9BZE9
Secondary accession number(s): A8K3K9
, Q7Z6N7, Q8WV59, Q96LS5, Q96M40
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2006
Last sequence update: June 1, 2001
Last modified: November 7, 2018
This is version 132 of the entry and version 1 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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