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Entry version 148 (07 Oct 2020)
Sequence version 2 (01 Oct 2000)
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Protein

Vacuolar protein sorting-associated protein 51 homolog

Gene

VPS51

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 protein retrieval from endosomes to the TGN, acid hydrolase sorting, lysosome function, endosomal cholesterol traffic and autophagy. VPS51 participates in retrograde transport of acid hydrolase receptors, likely by promoting tethering and SNARE-dependent fusion of endosome-derived carriers to the TGN (PubMed:20685960). 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).2 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

<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 processLipid transport, Protein transport, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q9UID3

Reactome - a knowledgebase of biological pathways and processes

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

<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 51 homolog
Alternative name(s):
Another new gene 2 protein
Protein fat-free 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:VPS51
Synonyms:ANG2, C11orf2, C11orf3, FFR
ORF Names:PP5382
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000149823.7

Human Gene Nomenclature Database

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HGNCi
HGNC:1172, VPS51

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
615738, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UID3

<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

Keywords - Cellular componenti

Endosome, Golgi apparatus

<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 13 (PCH13)2 Publications
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH13 is an autosomal recessive form characterized by delayed psychomotor development, absent speech, severe intellectual disability and postnatal microcephaly, with brain malformations consisting of cerebellar atrophy and hypoplastic corpus callosum. Additional features, including seizures and visual impairment, are variable.
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_083138474Missing in PCH13; unknown pathological significance. 1 Publication1
Natural variantiVAR_083139490R → C in PCH13; impaired association with VPS50 and VPS53 subunits; reduced levels of assembled GARP and EARP complexes. 1 PublicationCorresponds to variant dbSNP:rs1203009966EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
738

MalaCards human disease database

More...
MalaCardsi
VPS51
MIMi618606, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000149823

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25485

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9UID3, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
VPS51

Domain mapping of disease mutations (DMDM)

More...
DMDMi
71153003

<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%5Fprocessing%5Fsection">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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000898312 – 782Vacuolar protein sorting-associated protein 51 homologAdd BLAST781

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 residuei18PhosphoserineCombined sources1
Modified residuei44PhosphoserineBy similarity1
Modified residuei649PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9UID3

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9UID3

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9UID3

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

More...
PaxDbi
Q9UID3

PeptideAtlas

More...
PeptideAtlasi
Q9UID3

PRoteomics IDEntifications database

More...
PRIDEi
Q9UID3

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
84494 [Q9UID3-1]
84495 [Q9UID3-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UID3

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

More...
PhosphoSitePlusi
Q9UID3

<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
ENSG00000149823, Expressed in cerebellum and 239 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9UID3, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9UID3, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000149823, 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:20685960, PubMed:27440922, PubMed:30624672).

Component of the endosome-associated retrograde protein (EARP) complex, composed of VPS51, VPS52, VPS53 and VPS50/Syndetin (PubMed:25799061, PubMed:27440922, PubMed:30624672). 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 STX6 (PubMed:20685960).

Interacts with VPS50 and VPS54 in an EIPR1-independent manner (PubMed:31721635).

5 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

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
107197, 98 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9UID3

Database of interacting proteins

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DIPi
DIP-60562N

Protein interaction database and analysis system

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IntActi
Q9UID3, 35 interactors

Molecular INTeraction database

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MINTi
Q9UID3

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000279281

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9UID3, 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

Secondary structure

1782
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

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SMRi
Q9UID3

Database of comparative protein structure models

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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

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 coili116 – 147Sequence analysisAdd BLAST32
Coiled coili270 – 292Sequence analysisAdd BLAST23

<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 VPS51 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2346, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00390000001738

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_020677_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9UID3

KEGG Orthology (KO)

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KOi
K20296

Identification of Orthologs from Complete Genome Data

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OMAi
HTIEPRT

Database of Orthologous Groups

More...
OrthoDBi
1305393at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9UID3

TreeFam database of animal gene trees

More...
TreeFami
TF314825

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR016159, Cullin_repeat-like_dom_sf
IPR014812, Vps51

The PANTHER Classification System

More...
PANTHERi
PTHR15954, PTHR15954, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF74788, SSF74788, 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 (2+)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.

<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 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 2 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UID3-1) [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
MAAAAAAGPS PGSGPGDSPE GPEGEAPERR RKAHGMLKLY YGLSEGEAAG
60 70 80 90 100
RPAGPDPLDP TDLNGAHFDP EVYLDKLRRE CPLAQLMDSE TDMVRQIRAL
110 120 130 140 150
DSDMQTLVYE NYNKFISATD TIRKMKNDFR KMEDEMDRLA TNMAVITDFS
160 170 180 190 200
ARISATLQDR HERITKLAGV HALLRKLQFL FELPSRLTKC VELGAYGQAV
210 220 230 240 250
RYQGRAQAVL QQYQHLPSFR AIQDDCQVIT ARLAQQLRQR FREGGSGAPE
260 270 280 290 300
QAECVELLLA LGEPAEELCE EFLAHARGRL EKELRNLEAE LGPSPPAPDV
310 320 330 340 350
LEFTDHGGSG FVGGLCQVAA AYQELFAAQG PAGAEKLAAF ARQLGSRYFA
360 370 380 390 400
LVERRLAQEQ GGGDNSLLVR ALDRFHRRLR APGALLAAAG LADAATEIVE
410 420 430 440 450
RVARERLGHH LQGLRAAFLG CLTDVRQALA APRVAGKEGP GLAELLANVA
460 470 480 490 500
SSILSHIKAS LAAVHLFTAK EVSFSNKPYF RGEFCSQGVR EGLIVGFVHS
510 520 530 540 550
MCQTAQSFCD SPGEKGGATP PALLLLLSRL CLDYETATIS YILTLTDEQF
560 570 580 590 600
LVQDQFPVTP VSTLCAEARE TARRLLTHYV KVQGLVISQM LRKSVETRDW
610 620 630 640 650
LSTLEPRNVR AVMKRVVEDT TAIDVQVGLL YEEGVRKAQS SDSSKRTFSV
660 670 680 690 700
YSSSRQQGRY APSYTPSAPM DTNLLSNIQK LFSERIDVFS PVEFNKVSVL
710 720 730 740 750
TGIIKISLKT LLECVRLRTF GRFGLQQVQV DCHFLQLYLW RFVADEELVH
760 770 780
LLLDEVVASA ALRCPDPVPM EPSVVEVICE RG
Length:782
Mass (Da):86,042
Last modified:October 1, 2000 - 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:i0E858672E4C656DD
GO
Isoform 2 (identifier: Q9UID3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-124: Missing.

Show »
Length:658
Mass (Da):72,655
Checksum:iA887B9E4D045BAE6
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 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YCB7H0YCB7_HUMAN
Vacuolar protein sorting-associated...
VPS51
99Annotation 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>
E9PKX7E9PKX7_HUMAN
Vacuolar protein sorting-associated...
VPS51
334Annotation 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>
E9PQN6E9PQN6_HUMAN
Vacuolar protein sorting-associated...
VPS51
165Annotation 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>
E9PJ36E9PJ36_HUMAN
Vacuolar protein sorting-associated...
VPS51
255Annotation 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>
E9PMB6E9PMB6_HUMAN
Vacuolar protein sorting-associated...
VPS51
110Annotation 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>
E9PRV0E9PRV0_HUMAN
Vacuolar protein sorting-associated...
VPS51
233Annotation 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>
E9PQD5E9PQD5_HUMAN
Vacuolar protein sorting-associated...
VPS51
163Annotation 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>
H0YEE1H0YEE1_HUMAN
Vacuolar protein sorting-associated...
VPS51
199Annotation 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>
E9PKE5E9PKE5_HUMAN
Vacuolar protein sorting-associated...
VPS51
81Annotation 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>
A0A1W2PQZ2A0A1W2PQZ2_HUMAN
Vacuolar protein sorting-associated...
VPS51
81Annotation 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>
There is more potential isoformShow all

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_083138474Missing in PCH13; unknown pathological significance. 1 Publication1
Natural variantiVAR_083139490R → C in PCH13; impaired association with VPS50 and VPS53 subunits; reduced levels of assembled GARP and EARP complexes. 1 PublicationCorresponds to variant dbSNP:rs1203009966EnsemblClinVar.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_0147001 – 124Missing in isoform 2. 1 PublicationAdd BLAST124

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
AF024631 mRNA Translation: AAF21627.2
AF289557 mRNA Translation: AAL55741.1
AL833818 mRNA Translation: CAD38681.2
AP003068 Genomic DNA No translation available.
BC006555 mRNA Translation: AAH06555.2
BC007198 mRNA Translation: AAH07198.1
BC009285 mRNA Translation: AAH09285.2
BC010540 mRNA Translation: AAH10540.1
BC017438 mRNA Translation: AAH17438.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS8093.1 [Q9UID3-1]

NCBI Reference Sequences

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RefSeqi
NP_037397.2, NM_013265.3 [Q9UID3-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000279281; ENSP00000279281; ENSG00000149823 [Q9UID3-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
738

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:738

UCSC genome browser

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UCSCi
uc001ocr.3, human [Q9UID3-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AF024631 mRNA Translation: AAF21627.2
AF289557 mRNA Translation: AAL55741.1
AL833818 mRNA Translation: CAD38681.2
AP003068 Genomic DNA No translation available.
BC006555 mRNA Translation: AAH06555.2
BC007198 mRNA Translation: AAH07198.1
BC009285 mRNA Translation: AAH09285.2
BC010540 mRNA Translation: AAH10540.1
BC017438 mRNA Translation: AAH17438.1
CCDSiCCDS8093.1 [Q9UID3-1]
RefSeqiNP_037397.2, NM_013265.3 [Q9UID3-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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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
4J2CX-ray1.80B/D33-49[»]
SMRiQ9UID3
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi107197, 98 interactors
CORUMiQ9UID3
DIPiDIP-60562N
IntActiQ9UID3, 35 interactors
MINTiQ9UID3
STRINGi9606.ENSP00000279281

PTM databases

iPTMnetiQ9UID3
PhosphoSitePlusiQ9UID3

Polymorphism and mutation databases

BioMutaiVPS51
DMDMi71153003

Proteomic databases

EPDiQ9UID3
jPOSTiQ9UID3
MassIVEiQ9UID3
PaxDbiQ9UID3
PeptideAtlasiQ9UID3
PRIDEiQ9UID3
ProteomicsDBi84494 [Q9UID3-1]
84495 [Q9UID3-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
49945, 77 antibodies

Genome annotation databases

EnsembliENST00000279281; ENSP00000279281; ENSG00000149823 [Q9UID3-1]
GeneIDi738
KEGGihsa:738
UCSCiuc001ocr.3, human [Q9UID3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
738
DisGeNETi738
EuPathDBiHostDB:ENSG00000149823.7

GeneCards: human genes, protein and diseases

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GeneCardsi
VPS51
HGNCiHGNC:1172, VPS51
HPAiENSG00000149823, Low tissue specificity
MalaCardsiVPS51
MIMi615738, gene
618606, phenotype
neXtProtiNX_Q9UID3
OpenTargetsiENSG00000149823
PharmGKBiPA25485

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2346, Eukaryota
GeneTreeiENSGT00390000001738
HOGENOMiCLU_020677_0_0_1
InParanoidiQ9UID3
KOiK20296
OMAiHTIEPRT
OrthoDBi1305393at2759
PhylomeDBiQ9UID3
TreeFamiTF314825

Enzyme and pathway databases

PathwayCommonsiQ9UID3
ReactomeiR-HSA-6811440, Retrograde transport at the Trans-Golgi-Network

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
738, 408 hits in 876 CRISPR screens

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

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ChiTaRSi
VPS51, human

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

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GenomeRNAii
738
PharosiQ9UID3, Tbio

Protein Ontology

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PROi
PR:Q9UID3
RNActiQ9UID3, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000149823, Expressed in cerebellum and 239 other tissues
ExpressionAtlasiQ9UID3, baseline and differential
GenevisibleiQ9UID3, HS

Family and domain databases

InterProiView protein in InterPro
IPR016159, Cullin_repeat-like_dom_sf
IPR014812, Vps51
PANTHERiPTHR15954, PTHR15954, 1 hit
SUPFAMiSSF74788, SSF74788, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiVPS51_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: Q9UID3
Secondary accession number(s): Q6PJV5
, Q7L8A6, Q8WZ35, Q96DF4, Q96GR3
<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: July 19, 2005
Last sequence update: October 1, 2000
Last modified: October 7, 2020
This is version 148 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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