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UniProtKB - Q5VIR6 (VPS53_HUMAN)

Entry version 145 (25 May 2022)
Sequence version 2 (12 Aug 2020)
Previous versions | rss
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Protein

Vacuolar protein sorting-associated protein 53 homolog

Gene

VPS53

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

Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD (PubMed:15878329, PubMed:18367545).

Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane (PubMed:25799061).

3 Publications

<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

Complete GO annotation on QuickGO ...

<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>Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q5VIR6

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6811440, Retrograde transport at the Trans-Golgi-Network

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q5VIR6

<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%5Fand%5Ftaxonomy%5Fsection">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:
Vacuolar protein sorting-associated protein 53 homolog
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:VPS53
ORF Names:PP13624
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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> Componentsi: Chromosome 17, Unplaced

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:25608, VPS53

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		615850, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q5VIR6

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000141252

<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

Keywords - Cellular componenti

Endosome, Golgi apparatus, Membrane

<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

Pontocerebellar hypoplasia 2E (PCH2E)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder characterized by progressive cerebello-cerebral atrophy, profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy.
Related information in OMIM
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_071803695Q → R in PCH2E. 1 PublicationCorresponds to variant dbSNP:rs587777465EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Epilepsy, Mental retardation, Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		55275

MalaCards human disease database

More...MalaCardsi		VPS53
MIMi615851, phenotype

Open Targets

More...OpenTargetsi		ENSG00000141252

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

More...Orphaneti		247198, Progressive cerebello-cerebral atrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142670618

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q5VIR6, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		VPS53

Domain mapping of disease mutations (DMDM)

More...DMDMi		74746777

<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 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002151891 – 832Vacuolar protein sorting-associated protein 53 homologAdd BLAST832

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 residuei110N6-acetyllysineCombined sources1
Modified residuei360N6-acetyllysineCombined sources1
Modified residuei377PhosphoserineCombined sources1
Modified residuei391PhosphothreonineCombined sources1
Modified residuei580PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q5VIR6

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q5VIR6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q5VIR6

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q5VIR6

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

More...PaxDbi		Q5VIR6

PeptideAtlas

More...PeptideAtlasi		Q5VIR6

PRoteomics IDEntifications database

More...PRIDEi		Q5VIR6

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		65251 [Q5VIR6-1]
65252 [Q5VIR6-2]
65253 [Q5VIR6-3]
65254 [Q5VIR6-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q5VIR6

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

More...PhosphoSitePlusi		Q5VIR6

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000141252, Expressed in frontal cortex and 200 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q5VIR6, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q5VIR6, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000141252, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the Golgi-associated retrograde protein (GARP) complex, also called VFT (VPS fifty-three) complex, composed of VPS51, VPS52, VPS53 and VPS54 (PubMed:27440922, PubMed:15878329).

Component of the endosome-associated retrograde protein (EARP) complex, composed of VPS51, VPS52, VPS53 and VPS50/Syndetin (PubMed:25799061, PubMed:27440922). EIPR1 interacts with both EARP and GARP complexes and mediates the recruitment of the GARP complex to the trans-Golgi network (PubMed:27440922).

Interacts with VPS50 in an EIPR1-independent manner (PubMed:31721635).

4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<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)

More...BioGRIDi		120563, 136 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-6207, EARP tethering complex
CPX-6208, GARP tethering complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q5VIR6

Database of interacting proteins

More...DIPi		DIP-59352N

Protein interaction database and analysis system

More...IntActi		Q5VIR6, 22 interactors

Molecular INTeraction database

More...MINTi		Q5VIR6

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000401435

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q5VIR6, protein

<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

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q5VIR6

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

More...SMRi		Q5VIR6

Database of comparative protein structure models

More...ModBasei		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

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>Regioni373 – 412DisorderedSequence analysisAdd BLAST40
Regioni794 – 822DisorderedSequence analysisAdd BLAST29

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili97 – 138Sequence analysisAdd BLAST42

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi395 – 412Basic and acidic residuesSequence analysisAdd BLAST18
Compositional biasi799 – 817Polar residuesSequence analysisAdd BLAST19

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the VPS53 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2180, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000015165

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_007339_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q5VIR6

Identification of Orthologs from Complete Genome Data

More...OMAi		YKFAEAK

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q5VIR6

TreeFam database of animal gene trees

More...TreeFami		TF106150

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.357.110, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR039766, Vps53
IPR038260, Vps53_C_sf
IPR007234, Vps53_N

The PANTHER Classification System

More...PANTHERi		PTHR12820, PTHR12820, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF04100, Vps53_N, 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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

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 42 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5VIR6-4) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><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
MMEEEELEFV EELEAVLQLT PEVQLAIEQV FPSQDPLDRA DFNAVEYINT 
        60         70         80         90        100
LFPTEQSLAN IDEVVNKIRL KIRRLDDNIR TVVRGQTNVG QDGRQALEEA 
       110        120        130        140        150
QKAIQQLFGK IKDIKDKAEK SEQMVKEITR DIKQLDHAKR HLTTSITTLN 
       160        170        180        190        200
HLHMLAGGVD SLEAMTRRRQ YGEVANLLQG VMNVLEHFHK YMGIPQIRQL 
       210        220        230        240        250
SERVKAAQTE LGQQILADFE EAFPSQGTKR PGGPSNVLRD ACLVANILDP 
       260        270        280        290        300
RIKQEIIKKF IKQHLSEYLV LFQENQDVAW LDKIDRRYAW IKRQLVDYEE 
       310        320        330        340        350
KYGRMFPREW CMAERIAVEF CHVTRAELAK IMRTRAKEIE VKLLLFAIQR 
       360        370        380        390        400
TTNFEGFLAK RFSGCTLTDG TLKKLESPPP STNPFLEDEP TPEMEELATE 
       410        420        430        440        450
KGDLDQPKKP KAPDNPFHGI VSKCFEPHLY VYIESQDKNL GELIDRFVAD 
       460        470        480        490        500
FKAQGPPKPN TDEGGAVLPS CADLFVYYKK CMVQCSQLST GEPMIALTTI 
       510        520        530        540        550
FQKYLREYAW KILSGNLPKT TTSSGGLTIS SLLKEKEGSE VAKFTLEELC 
       560        570        580        590        600
LICNILSTAE YCLATTQQLE EKLKEKVDVS LIERINLTGE MDTFSTVISS 
       610        620        630        640        650
SIQLLVQDLD AACDPALTAM SKMQWQNVEH VGDQSPYVTS VILHIKQNVP 
       660        670        680        690        700
IIRDNLASTR KYFTQFCVKF ANSFIPKFIT HLFKCKPISM VGAEQLLLDT 
       710        720        730        740        750
HSLKMVLLDL PSISSQVVRK APASYTKIVV KGMTRAEMIL KVVMAPHEPL 
       760        770        780        790        800
VVFVDNYIKL LTDCNTETFQ KILDMKGLKR SEQSSMLELL RQRLPAPPSG 
       810        820        830 
AESSGSLSLT APTPEQESSR IRKLEKLIKK RL
Length:832
Mass (Da):94,405
Last modified:August 12, 2020 - v2
<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:iEA71D35158E9419E
GO
Isoform 2 (identifier: Q5VIR6-1) [UniParc]FASTAAdd to basket
Also known as: long

The sequence of this isoform differs from the canonical sequence as follows:
     696-699: LLLD → VRWT
     700-832: Missing.

Show »
Length:699
Mass (Da):79,653
Checksum:i6C07EC07682BF4C6
GO
Isoform 3 (identifier: Q5VIR6-2) [UniParc]FASTAAdd to basket
Also known as: short

The sequence of this isoform differs from the canonical sequence as follows:
     96-124: Missing.
     696-699: LLLD → VRWT
     700-832: Missing.

Show »
Length:670
Mass (Da):76,352
Checksum:i8057AAC082136EC7
GO
Isoform 4 (identifier: Q5VIR6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     672-672: N → K
     673-832: Missing.

Show »
Length:672
Mass (Da):76,520
Checksum:i5E6D9B17630E3B74
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 42 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A7P0T9B2A0A7P0T9B2_HUMAN
Vacuolar protein sorting-associated...
VPS53
782Annotation 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>
A0A7P0Z400A0A7P0Z400_HUMAN
Vacuolar protein sorting-associated...
VPS53
709Annotation 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>
A0A7P0TAE0A0A7P0TAE0_HUMAN
Vacuolar protein sorting-associated...
VPS53
655Annotation 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>
F6VX93F6VX93_HUMAN
Vacuolar protein sorting-associated...
VPS53
547Annotation 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>
A0A7P0T874A0A7P0T874_HUMAN
Vacuolar protein sorting-associated...
VPS53
673Annotation 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>
A0A7P0T8P7A0A7P0T8P7_HUMAN
Vacuolar protein sorting-associated...
VPS53
680Annotation 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>
A0A7P0T9V8A0A7P0T9V8_HUMAN
Vacuolar protein sorting-associated...
VPS53
644Annotation 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>
A0A7P0Z461A0A7P0Z461_HUMAN
Vacuolar protein sorting-associated...
VPS53
643Annotation 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>
A0A7P0TA79A0A7P0TA79_HUMAN
Vacuolar protein sorting-associated...
VPS53
546Annotation 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>
A0A7P0TAF8A0A7P0TAF8_HUMAN
Vacuolar protein sorting-associated...
VPS53
293Annotation 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>
There are more potential isoformsShow all

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAL55842 differs from that shown. Probable cloning artifact.Curated
The sequence BAA91935 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

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 conflicti27I → V in ABW03005 (PubMed:18367545).Curated1
Sequence conflicti115K → N in ABW03005 (PubMed:18367545).Curated1
Sequence conflicti466A → T in AAK27973 (PubMed:12565177).Curated1
Sequence conflicti520T → P in AAK27973 (PubMed:12565177).Curated1
Sequence conflicti525G → E in AAK27973 (PubMed:12565177).Curated1
Sequence conflicti656L → PV in AAK27973 (PubMed:12565177).Curated1
Sequence conflicti666F → L in AAK27973 (PubMed:12565177).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_059959328L → I. Corresponds to variant dbSNP:rs16954056EnsemblClinVar.1
Natural variantiVAR_066561375L → R. Corresponds to variant dbSNP:rs61644407EnsemblClinVar.1
Natural variantiVAR_071803695Q → R in PCH2E. 1 PublicationCorresponds to variant dbSNP:rs587777465EnsemblClinVar.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_06066296 – 124Missing in isoform 3. 2 PublicationsAdd BLAST29
Alternative sequenceiVSP_060787672N → K in isoform 4. 1 Publication1
Alternative sequenceiVSP_060663673 – 832Missing in isoform 4. 1 PublicationAdd BLAST160
Alternative sequenceiVSP_060664696 – 699LLLD → VRWT in isoform 2 and isoform 3. 3 Publications4
Alternative sequenceiVSP_060665700 – 832Missing in isoform 2 and isoform 3. 3 PublicationsAdd BLAST133

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AY444797 mRNA Translation: AAS20944.1
AF246287 mRNA Translation: AAK27973.1
EU021218 mRNA Translation: ABW03005.1
AK001841 mRNA Translation: BAA91935.1 Different initiation.
AK290343 mRNA Translation: BAF83032.1
AC015853 Genomic DNA No translation available.
AC027455 Genomic DNA No translation available.
CH471108 Genomic DNA Translation: EAW90661.1
BC006116 mRNA Translation: AAH06116.1
AF318335 mRNA Translation: AAL55842.1 Sequence problems.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10995.1 [Q5VIR6-2]
CCDS45558.1 [Q5VIR6-4]

NCBI Reference Sequences

More...RefSeqi		NP_001121631.1, NM_001128159.2 [Q5VIR6-4]
NP_060759.2, NM_018289.3 [Q5VIR6-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000291074.10; ENSP00000291074.5; ENSG00000141252.21 [Q5VIR6-2]
ENST00000437048.7; ENSP00000401435.2; ENSG00000141252.21
ENST00000571805.6; ENSP00000459312.1; ENSG00000141252.21 [Q5VIR6-1]
ENST00000638350.1; ENSP00000492070.1; ENSG00000283883.2 [Q5VIR6-2]
ENST00000639801.2; ENSP00000492761.1; ENSG00000283883.2
ENST00000639896.1; ENSP00000492119.1; ENSG00000283883.2 [Q5VIR6-1]
ENST00000680069.1; ENSP00000505145.1; ENSG00000141252.21 [Q5VIR6-3]
ENST00000680465.1; ENSP00000505997.1; ENSG00000141252.21

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55275

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55275

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000437048.7; ENSP00000401435.2; NM_001128159.3; NP_001121631.1

UCSC genome browser

More...UCSCi		uc002frm.3, human [Q5VIR6-4]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY444797 mRNA Translation: AAS20944.1
AF246287 mRNA Translation: AAK27973.1
EU021218 mRNA Translation: ABW03005.1
AK001841 mRNA Translation: BAA91935.1 Different initiation.
AK290343 mRNA Translation: BAF83032.1
AC015853 Genomic DNA No translation available.
AC027455 Genomic DNA No translation available.
CH471108 Genomic DNA Translation: EAW90661.1
BC006116 mRNA Translation: AAH06116.1
AF318335 mRNA Translation: AAL55842.1 Sequence problems.
CCDSiCCDS10995.1 [Q5VIR6-2]
CCDS45558.1 [Q5VIR6-4]
RefSeqiNP_001121631.1, NM_001128159.2 [Q5VIR6-4]
NP_060759.2, NM_018289.3 [Q5VIR6-2]

3D structure databases

AlphaFoldDBiQ5VIR6
SMRiQ5VIR6
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi120563, 136 interactors
ComplexPortaliCPX-6207, EARP tethering complex
CPX-6208, GARP tethering complex
CORUMiQ5VIR6
DIPiDIP-59352N
IntActiQ5VIR6, 22 interactors
MINTiQ5VIR6
STRINGi9606.ENSP00000401435

PTM databases

iPTMnetiQ5VIR6
PhosphoSitePlusiQ5VIR6

Genetic variation databases

BioMutaiVPS53
DMDMi74746777

Proteomic databases

EPDiQ5VIR6
jPOSTiQ5VIR6
MassIVEiQ5VIR6
MaxQBiQ5VIR6
PaxDbiQ5VIR6
PeptideAtlasiQ5VIR6
PRIDEiQ5VIR6
ProteomicsDBi65251 [Q5VIR6-1]
65252 [Q5VIR6-2]
65253 [Q5VIR6-3]
65254 [Q5VIR6-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		10256, 131 antibodies from 26 providers

The DNASU plasmid repository

More...DNASUi		55275

Genome annotation databases

EnsembliENST00000291074.10; ENSP00000291074.5; ENSG00000141252.21 [Q5VIR6-2]
ENST00000437048.7; ENSP00000401435.2; ENSG00000141252.21
ENST00000571805.6; ENSP00000459312.1; ENSG00000141252.21 [Q5VIR6-1]
ENST00000638350.1; ENSP00000492070.1; ENSG00000283883.2 [Q5VIR6-2]
ENST00000639801.2; ENSP00000492761.1; ENSG00000283883.2
ENST00000639896.1; ENSP00000492119.1; ENSG00000283883.2 [Q5VIR6-1]
ENST00000680069.1; ENSP00000505145.1; ENSG00000141252.21 [Q5VIR6-3]
ENST00000680465.1; ENSP00000505997.1; ENSG00000141252.21
GeneIDi55275
KEGGihsa:55275
MANE-SelectiENST00000437048.7; ENSP00000401435.2; NM_001128159.3; NP_001121631.1
UCSCiuc002frm.3, human [Q5VIR6-4]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55275
DisGeNETi55275

GeneCards: human genes, protein and diseases

More...GeneCardsi		VPS53
HGNCiHGNC:25608, VPS53
HPAiENSG00000141252, Low tissue specificity
MalaCardsiVPS53
MIMi615850, gene
615851, phenotype
neXtProtiNX_Q5VIR6
OpenTargetsiENSG00000141252
Orphaneti247198, Progressive cerebello-cerebral atrophy
PharmGKBiPA142670618
VEuPathDBiHostDB:ENSG00000141252

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2180, Eukaryota
GeneTreeiENSGT00390000015165
HOGENOMiCLU_007339_0_0_1
InParanoidiQ5VIR6
OMAiYKFAEAK
PhylomeDBiQ5VIR6
TreeFamiTF106150

Enzyme and pathway databases

PathwayCommonsiQ5VIR6
ReactomeiR-HSA-6811440, Retrograde transport at the Trans-Golgi-Network
SignaLinkiQ5VIR6

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55275, 134 hits in 1088 CRISPR screens

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

More...ChiTaRSi		VPS53, human

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

More...GenomeRNAii		55275
PharosiQ5VIR6, Tbio

Protein Ontology

More...PROi		PR:Q5VIR6
RNActiQ5VIR6, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000141252, Expressed in frontal cortex and 200 other tissues
ExpressionAtlasiQ5VIR6, baseline and differential
GenevisibleiQ5VIR6, HS

Family and domain databases

Gene3Di1.10.357.110, 1 hit
InterProiView protein in InterPro
IPR039766, Vps53
IPR038260, Vps53_C_sf
IPR007234, Vps53_N
PANTHERiPTHR12820, PTHR12820, 1 hit
PfamiView protein in Pfam
PF04100, Vps53_N, 1 hit

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 nameiVPS53_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: Q5VIR6
Secondary accession number(s): A8K2S8
, B3FH42, Q8WYW3, Q9BRR2, Q9BY02, Q9NV25
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 22, 2005
Last sequence update: August 12, 2020
Last modified: May 25, 2022
This is version 145 of the entry and version 2 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

Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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