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Entry version 141 (16 Oct 2019)
Sequence version 1 (01 Jun 2001)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1445148 Translocation of SLC2A4 (GLUT4) to the plasma membrane

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9BZE9

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ASPSCR1
Synonyms:ASPL, RCC17, TUG, UBXD9, UBXN9
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:13825 ASPSCR1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606236 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9BZE9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasm, Membrane, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei311 – 312Breakpoint for translocation to form ASPSCR1-TFE32

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNET

More...
DisGeNETi
79058

MalaCards human disease database

More...
MalaCardsi
ASPSCR1

Open Targets

More...
OpenTargetsi
ENSG00000169696

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
163699 Alveolar soft tissue sarcoma
319308 MiT family translocation renal cell carcinoma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25058

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9BZE9

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ASPSCR1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74717746

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002498852 – 553Tether containing UBX domain for GLUT4Add BLAST552

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei184PhosphoserineBy similarity1
Modified residuei275PhosphoserineCombined sources1
Modified residuei500PhosphoserineCombined sources1
Modified residuei502PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9BZE9

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9BZE9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9BZE9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9BZE9

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9BZE9

PeptideAtlas

More...
PeptideAtlasi
Q9BZE9

PRoteomics IDEntifications database

More...
PRIDEi
Q9BZE9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
79824 [Q9BZE9-1]
79825 [Q9BZE9-2]
79826 [Q9BZE9-3]
79827 [Q9BZE9-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9BZE9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9BZE9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000169696 Expressed in 90 organ(s), highest expression level in liver

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9BZE9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9BZE9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA026749

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with GLUT4 (By similarity).

Interacts with VCPKMT.

Interacts with VCP.

By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
122516, 54 interactors

Protein interaction database and analysis system

More...
IntActi
Q9BZE9, 35 interactors

Molecular INTeraction database

More...
MINTi
Q9BZE9

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000306625

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9BZE9

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini386 – 462UBXPROSITE-ProRule annotationAdd BLAST77

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni317 – 380Interaction with GLUT4By similarityAdd BLAST64

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2699 Eukaryota
ENOG410XQQK LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156853

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231241

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9BZE9

KEGG Orthology (KO)

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KOi
K15627

Identification of Orthologs from Complete Genome Data

More...
OMAi
NNCVLEM

Database of Orthologous Groups

More...
OrthoDBi
1104599at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9BZE9

TreeFam database of animal gene trees

More...
TreeFami
TF320363

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR021569 TUG-UBL1
IPR029071 Ubiquitin-like_domsf
IPR001012 UBX_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF11470 TUG-UBL1, 1 hit
PF00789 UBX, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF54236 SSF54236, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50033 UBX, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QL04J3QL04_HUMAN
Tether-containing UBX domain for GL...
ASPSCR1
307Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QR12J3QR12_HUMAN
Tether-containing UBX domain for GL...
ASPSCR1
470Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KRF7J3KRF7_HUMAN
Tether-containing UBX domain for GL...
ASPSCR1
179Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JAL9C9JAL9_HUMAN
Tether-containing UBX domain for GL...
ASPSCR1
58Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QRW3J3QRW3_HUMAN
Tether-containing UBX domain for GL...
ASPSCR1
182Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KRG1J3KRG1_HUMAN
Tether-containing UBX domain for GL...
ASPSCR1
188Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QR50J3QR50_HUMAN
Tether-containing UBX domain for GL...
ASPSCR1
160Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti257G → E in BAB71595 (PubMed:14702039).Curated1
Sequence conflicti444D → G in BAB71595 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11796.1 [Q9BZE9-1]
CCDS58611.1 [Q9BZE9-2]
CCDS82222.1 [Q9BZE9-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001238817.1, NM_001251888.1 [Q9BZE9-2]
NP_001317457.1, NM_001330528.1 [Q9BZE9-3]
NP_076988.1, NM_024083.3 [Q9BZE9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000306729; ENSP00000306625; ENSG00000169696 [Q9BZE9-2]
ENST00000306739; ENSP00000302176; ENSG00000169696 [Q9BZE9-1]
ENST00000580534; ENSP00000462329; ENSG00000169696 [Q9BZE9-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
79058

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:79058

UCSC genome browser

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UCSCi
uc002kcx.3 human [Q9BZE9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5IFSX-ray2.46A/C317-553[»]
5IFWX-ray3.40A317-504[»]
SMRiQ9BZE9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi122516, 54 interactors
IntActiQ9BZE9, 35 interactors
MINTiQ9BZE9
STRINGi9606.ENSP00000306625

PTM databases

iPTMnetiQ9BZE9
PhosphoSitePlusiQ9BZE9

Polymorphism and mutation databases

BioMutaiASPSCR1
DMDMi74717746

Proteomic databases

EPDiQ9BZE9
jPOSTiQ9BZE9
MassIVEiQ9BZE9
MaxQBiQ9BZE9
PaxDbiQ9BZE9
PeptideAtlasiQ9BZE9
PRIDEiQ9BZE9
ProteomicsDBi79824 [Q9BZE9-1]
79825 [Q9BZE9-2]
79826 [Q9BZE9-3]
79827 [Q9BZE9-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
79058

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

Comparative Toxicogenomics Database

More...
CTDi
79058
DisGeNETi79058

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ASPSCR1
HGNCiHGNC:13825 ASPSCR1
HPAiHPA026749
MalaCardsiASPSCR1
MIMi606236 gene
neXtProtiNX_Q9BZE9
OpenTargetsiENSG00000169696
Orphaneti163699 Alveolar soft tissue sarcoma
319308 MiT family translocation renal cell carcinoma
PharmGKBiPA25058

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2699 Eukaryota
ENOG410XQQK LUCA
GeneTreeiENSGT00940000156853
HOGENOMiHOG000231241
InParanoidiQ9BZE9
KOiK15627
OMAiNNCVLEM
OrthoDBi1104599at2759
PhylomeDBiQ9BZE9
TreeFamiTF320363

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ASPSCR1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ASPSCR1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
79058
PharosiQ9BZE9

Protein Ontology

More...
PROi
PR:Q9BZE9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiASPC1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BZE9
Secondary accession number(s): A8K3K9
, Q7Z6N7, Q8WV59, Q96LS5, Q96M40
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2006
Last sequence update: June 1, 2001
Last modified: October 16, 2019
This is version 141 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, 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
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