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Protein

Vacuolar protein sorting-associated protein 33A

Gene

VPS33A

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

Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:23351085, PubMed:24554770, PubMed:25266290, PubMed:25783203). Required for fusion of endosomes and autophagosomes with lysosomes; the function is dependent on its association with VPS16 but not VIPAS39 (PubMed:25783203). The function in autophagosome-lysosome fusion implicates STX17 but not UVRAG (PubMed:24554770).3 Publications2 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 processAutophagy, Protein transport, Transport

<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:
Vacuolar protein sorting-associated protein 33A
Short name:
hVPS33A
<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:VPS33A
<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 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000139719.9

Human Gene Nomenclature Database

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HGNCi
HGNC:18179 VPS33A

Online Mendelian Inheritance in Man (OMIM)

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MIMi
610034 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96AX1

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasmic vesicle, Endosome, Lysosome, 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

Mucopolysaccharidosis-plus syndrome (MPSPS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mucopolysaccharidosis, a group of diseases characterized by excessive accumulation and secretion of oligomucopoloysaccharides. MPSPS is a multisystemic disorder characterized by coarse facial features, dysostosis multiplex, hepatosplenomegaly, respiratory difficulties, mental retardation, developmental delay, pyramidal signs, severe chronic anemia, renal involvement and cardiac defects. Laboratory analyses show proteinuria with glomerular foamy cells, excess secretion of urinary glycosaminoglycans, and extremely high levels of plasma heparan sulphate. Disease onset is in infancy. Most patients die in the first years of life due to cardiorespiratory failure. MPSPS inheritance is autosomal recessive.
See also OMIM:617303
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_078032498R → W in MPSPS; may induce lysosome hyperacidification; does not affect the interaction with VPS16 and STX17; does not affect intracellular trafficking, lipid trafficking, nor cathepsin D processing. 2 PublicationsCorresponds to variant dbSNP:rs767748011EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi429K → D: Disrupts interaction with VPS16. Disrupts interaction with VPS18 and impairs endosome-lysosome fusion; when associated with K-438. Disrupts interaction with VPS18 and impairs endosome-lysosome fusion; when associated with K-441. 2 Publications1
Mutagenesisi438Y → D: Disrupts interaction with VPS16. Disrupts interaction with VPS18 and impairs endosome-lysosome fusion; when associated with D-429. Disrupts interaction with VPS18 and impairs endosome-lysosome fusion; when associated with K-441. 2 Publications1
Mutagenesisi441I → K: Disrupts interaction with VPS16. Disrupts interaction with VPS18 and impairs endosome-lysosome fusion; when associated with D-429. Disrupts interaction with VPS18 and impairs endosome-lysosome fusion; when associated with D-438. 2 Publications1

Keywords - Diseasei

Disease mutation, Mucopolysaccharidosis

Organism-specific databases

DisGeNET

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DisGeNETi
65082

MalaCards human disease database

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MalaCardsi
VPS33A
MIMi617303 phenotype

Open Targets

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OpenTargetsi
ENSG00000139719

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

More...
Orphaneti
505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA38306

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
VPS33A

Domain mapping of disease mutations (DMDM)

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DMDMi
23396917

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002063021 – 596Vacuolar protein sorting-associated protein 33AAdd BLAST596

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q96AX1

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96AX1

MaxQB - The MaxQuant DataBase

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MaxQBi
Q96AX1

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

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PaxDbi
Q96AX1

PeptideAtlas

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PeptideAtlasi
Q96AX1

PRoteomics IDEntifications database

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PRIDEi
Q96AX1

ProteomicsDB human proteome resource

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ProteomicsDBi
76004

Consortium for Top Down Proteomics

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TopDownProteomicsi
Q96AX1

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q96AX1

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

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PhosphoSitePlusi
Q96AX1

<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

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Bgeei
ENSG00000139719 Expressed in 196 organ(s), highest expression level in testis

CleanEx database of gene expression profiles

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CleanExi
HS_VPS33A

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96AX1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96AX1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA038701

<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

Core component of at least two putative endosomal tethering complexes, the homotypic fusion and vacuole protein sorting (HOPS) complex and the class C core vacuole/endosome tethering (CORVET) complex. Their common core is composed of the class C Vps proteins VPS11, VPS16, VPS18 and VPS33A, which in HOPS further associates with VPS39 and VPS41 and in CORVET with VPS8 and TGFBRAP1 (PubMed:23351085, PubMed:25783203, PubMed:25266290, PubMed:23901104, PubMed:28013294). Interacts with RAB5C (By similarity). Interacts with UVRAG, STX17, MON1A and MON1B (PubMed:18552835, PubMed:20434987, PubMed:24554770, PubMed:28013294). Interacts with VIPAS39; however, this interaction is debated (PubMed:19109425, PubMed:23901104). Associates with adaptor protein complex 3 (AP-3) and clathrin (PubMed:21411634).By similarity2 Publications7 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
122390, 31 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q96AX1

Protein interaction database and analysis system

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IntActi
Q96AX1, 16 interactors

Molecular INTeraction database

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MINTi
Q96AX1

STRING: functional protein association networks

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STRINGi
9606.ENSP00000267199

<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

1596
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

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
4BX8X-ray2.40A/B1-596[»]
4BX9X-ray2.60A/B1-596[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q96AX1

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

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SMRi
Q96AX1

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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

<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 STXBP/unc-18/SEC1 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1302 Eukaryota
COG5158 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155165

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000166771

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG054244

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96AX1

KEGG Orthology (KO)

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KOi
K20182

Identification of Orthologs from Complete Genome Data

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OMAi
ECYLEND

Database of Orthologous Groups

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OrthoDBi
406738at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q96AX1

TreeFam database of animal gene trees

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TreeFami
TF315126

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.50.1910, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR027482 Sec-1-like_dom2
IPR001619 Sec1-like
IPR036045 Sec1-like_sf
IPR027121 VPS33

The PANTHER Classification System

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PANTHERi
PTHR11679 PTHR11679, 1 hit
PTHR11679:SF56 PTHR11679:SF56, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00995 Sec1, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF56815 SSF56815, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)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.

This entry has 1 described isoform and 6 potential isoforms that are computationally mapped.Show allAlign All

Q96AX1-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAAHLSYGRV NLNVLREAVR RELREFLDKC AGSKAIVWDE YLTGPFGLIA
60 70 80 90 100
QYSLLKEHEV EKMFTLKGNR LPAADVKNII FFVRPRLELM DIIAENVLSE
110 120 130 140 150
DRRGPTRDFH ILFVPRRSLL CEQRLKDLGV LGSFIHREEY SLDLIPFDGD
160 170 180 190 200
LLSMESEGAF KECYLEGDQT SLYHAAKGLM TLQALYGTIP QIFGKGECAR
210 220 230 240 250
QVANMMIRMK REFTGSQNSI FPVFDNLLLL DRNVDLLTPL ATQLTYEGLI
260 270 280 290 300
DEIYGIQNSY VKLPPEKFAP KKQGDGGKDL PTEAKKLQLN SAEELYAEIR
310 320 330 340 350
DKNFNAVGSV LSKKAKIISA AFEERHNAKT VGEIKQFVSQ LPHMQAARGS
360 370 380 390 400
LANHTSIAEL IKDVTTSEDF FDKLTVEQEF MSGIDTDKVN NYIEDCIAQK
410 420 430 440 450
HSLIKVLRLV CLQSVCNSGL KQKVLDYYKR EILQTYGYEH ILTLHNLEKA
460 470 480 490 500
GLLKPQTGGR NNYPTIRKTL RLWMDDVNEQ NPTDISYVYS GYAPLSVRLA
510 520 530 540 550
QLLSRPGWRS IEEVLRILPG PHFEERQPLP TGLQKKRQPG ENRVTLIFFL
560 570 580 590
GGVTFAEIAA LRFLSQLEDG GTEYVIATTK LMNGTSWIEA LMEKPF
Length:596
Mass (Da):67,611
Last modified:December 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:i12442A1D9A223F56
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H6Y0F5H6Y0_HUMAN
Vacuolar protein sorting-associated...
VPS33A
186Annotation 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>
F5H2X5F5H2X5_HUMAN
Vacuolar protein sorting-associated...
VPS33A
153Annotation 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>
A0A2R8YF87A0A2R8YF87_HUMAN
Vacuolar protein sorting-associated...
VPS33A
637Annotation 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>
A0A2R8Y5U3A0A2R8Y5U3_HUMAN
Vacuolar protein sorting-associated...
VPS33A
198Annotation 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>
F5H7N5F5H7N5_HUMAN
Vacuolar protein sorting-associated...
VPS33A
42Annotation 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>
A0A2R8Y5F6A0A2R8Y5F6_HUMAN
Vacuolar protein sorting-associated...
VPS33A
13Annotation 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>

<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 BAB15570 differs from that shown. Reason: Frameshift at position 140.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052471256I → L. Corresponds to variant dbSNP:rs34996966Ensembl.1
Natural variantiVAR_078032498R → W in MPSPS; may induce lysosome hyperacidification; does not affect the interaction with VPS16 and STX17; does not affect intracellular trafficking, lipid trafficking, nor cathepsin D processing. 2 PublicationsCorresponds to variant dbSNP:rs767748011EnsemblClinVar.1

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
AF439857 mRNA Translation: AAL33577.1
AK026840 mRNA Translation: BAB15570.1 Frameshift.
CH471054 Genomic DNA Translation: EAW98319.1
BC016617 mRNA Translation: AAH16617.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS9231.1

NCBI Reference Sequences

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RefSeqi
NP_075067.2, NM_022916.4

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.487883
Hs.592009

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000267199; ENSP00000267199; ENSG00000139719

Database of genes from NCBI RefSeq genomes

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GeneIDi
65082

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:65082

UCSC genome browser

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UCSCi
uc001ucd.4 human

Keywords - Coding sequence diversityi

Polymorphism

<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
AF439857 mRNA Translation: AAL33577.1
AK026840 mRNA Translation: BAB15570.1 Frameshift.
CH471054 Genomic DNA Translation: EAW98319.1
BC016617 mRNA Translation: AAH16617.1
CCDSiCCDS9231.1
RefSeqiNP_075067.2, NM_022916.4
UniGeneiHs.487883
Hs.592009

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4BX8X-ray2.40A/B1-596[»]
4BX9X-ray2.60A/B1-596[»]
ProteinModelPortaliQ96AX1
SMRiQ96AX1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122390, 31 interactors
CORUMiQ96AX1
IntActiQ96AX1, 16 interactors
MINTiQ96AX1
STRINGi9606.ENSP00000267199

PTM databases

iPTMnetiQ96AX1
PhosphoSitePlusiQ96AX1

Polymorphism and mutation databases

BioMutaiVPS33A
DMDMi23396917

Proteomic databases

EPDiQ96AX1
jPOSTiQ96AX1
MaxQBiQ96AX1
PaxDbiQ96AX1
PeptideAtlasiQ96AX1
PRIDEiQ96AX1
ProteomicsDBi76004
TopDownProteomicsiQ96AX1

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
65082
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000267199; ENSP00000267199; ENSG00000139719
GeneIDi65082
KEGGihsa:65082
UCSCiuc001ucd.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
65082
DisGeNETi65082
EuPathDBiHostDB:ENSG00000139719.9

GeneCards: human genes, protein and diseases

More...
GeneCardsi
VPS33A

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0079486
HGNCiHGNC:18179 VPS33A
HPAiHPA038701
MalaCardsiVPS33A
MIMi610034 gene
617303 phenotype
neXtProtiNX_Q96AX1
OpenTargetsiENSG00000139719
Orphaneti505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
PharmGKBiPA38306

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1302 Eukaryota
COG5158 LUCA
GeneTreeiENSGT00940000155165
HOGENOMiHOG000166771
HOVERGENiHBG054244
InParanoidiQ96AX1
KOiK20182
OMAiECYLEND
OrthoDBi406738at2759
PhylomeDBiQ96AX1
TreeFamiTF315126

Miscellaneous databases

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

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ChiTaRSi
VPS33A human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
VPS33A

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

More...
GenomeRNAii
65082

Protein Ontology

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PROi
PR:Q96AX1

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000139719 Expressed in 196 organ(s), highest expression level in testis
CleanExiHS_VPS33A
ExpressionAtlasiQ96AX1 baseline and differential
GenevisibleiQ96AX1 HS

Family and domain databases

Gene3Di3.40.50.1910, 1 hit
InterProiView protein in InterPro
IPR027482 Sec-1-like_dom2
IPR001619 Sec1-like
IPR036045 Sec1-like_sf
IPR027121 VPS33
PANTHERiPTHR11679 PTHR11679, 1 hit
PTHR11679:SF56 PTHR11679:SF56, 1 hit
PfamiView protein in Pfam
PF00995 Sec1, 1 hit
SUPFAMiSSF56815 SSF56815, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiVP33A_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: Q96AX1
Secondary accession number(s): Q547V4, Q9H5Q0
<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, 2002
Last sequence update: December 1, 2001
Last modified: January 16, 2019
This is version 144 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. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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