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UniProtKB - Q8NEZ2 (VP37A_HUMAN)

Entry version 151 (12 Aug 2020)
Sequence version 1 (01 Oct 2002)
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Protein

Vacuolar protein sorting-associated protein 37A

Gene

VPS37A

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

Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation.1 Publication

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

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		Q8NEZ2

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-162588, Budding and maturation of HIV virion
R-HSA-174490, Membrane binding and targetting of GAG proteins
R-HSA-917729, Endosomal Sorting Complex Required For Transport (ESCRT)
R-HSA-9610379, HCMV Late Events
R-HSA-9615710, Late endosomal microautophagy

<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 37A
Short name:
hVps37A
Alternative name(s):
ESCRT-I complex subunit VPS37A
Hepatocellular carcinoma-related protein 1
<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:VPS37A
Synonyms:HCRP1
<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> Componenti: Chromosome 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000155975.9

Human Gene Nomenclature Database

More...HGNCi		HGNC:24928, VPS37A

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609927, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8NEZ2

<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, Membrane, Nucleus

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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spastic paraplegia 53, autosomal recessive (SPG53)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. SPG53 is characterized by pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis.
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_068424382K → N in SPG53; found in patients with complex hereditary spastic paraparesis; hypomorphic mutation; does not affect interaction with TSG101 and VPS28. 1 PublicationCorresponds to variant dbSNP:rs211694394EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		137492

MalaCards human disease database

More...MalaCardsi		VPS37A
MIMi614898, phenotype

Open Targets

More...OpenTargetsi		ENSG00000155975

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

More...Orphaneti		319199, Autosomal recessive spastic paraplegia type 53

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142670615

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8NEZ2, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		VPS37A

Domain mapping of disease mutations (DMDM)

More...DMDMi		74715446

<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_00002871981 – 397Vacuolar protein sorting-associated protein 37AAdd BLAST397

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 residuei18PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8NEZ2

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8NEZ2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8NEZ2

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8NEZ2

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

More...PaxDbi		Q8NEZ2

PeptideAtlas

More...PeptideAtlasi		Q8NEZ2

PRoteomics IDEntifications database

More...PRIDEi		Q8NEZ2

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		73247 [Q8NEZ2-1]
73248 [Q8NEZ2-2]
73249 [Q8NEZ2-3]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q8NEZ2, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8NEZ2

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

More...PhosphoSitePlusi		Q8NEZ2

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

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

Widely expressed. Examined tissues include heart, brain, placenta, liver, skeletal muscle, kidney and pancreas. More abundant in liver. Strongly decreased or undetected in hepatomas.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000155975, Expressed in corpus callosum and 211 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8NEZ2, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8NEZ2, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000155975, 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 ESCRT-I complex (endosomal sorting complex required for transport I) which consists of TSG101, VPS28, a VPS37 protein (VPS37A to -D) and MVB12A or MVB12B in a 1:1:1:1 stoichiometry.

Interacts with TSG101, VPS28 and HGS.

Component of an ESCRT-I complex (endosomal sorting complex required for transport I) which consists of TSG101, VPS28, VPS37A and UBAP1 in a 1:1:1:1 stoichiometry.

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

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		126479, 16 interactors

Protein interaction database and analysis system

More...IntActi		Q8NEZ2, 14 interactors

Molecular INTeraction database

More...MINTi		Q8NEZ2

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000318629

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8NEZ2, 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

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

More...SMRi		Q8NEZ2

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini308 – 397VPS37 C-terminalPROSITE-ProRule annotationAdd BLAST90

<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 VPS37 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3270, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183012

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_062319_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8NEZ2

KEGG Orthology (KO)

More...KOi		K12185

Identification of Orthologs from Complete Genome Data

More...OMAi		NGFTYKM

Database of Orthologous Groups

More...OrthoDBi		1573421at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8NEZ2

TreeFam database of animal gene trees

More...TreeFami		TF332146

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.287.660, 1 hit
3.10.110.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR037202, ESCRT_assembly_dom
IPR029012, Helix_hairpin_bin_sf
IPR009851, Mod_r
IPR016135, UBQ-conjugating_enzyme/RWD
IPR037859, Vps37

The PANTHER Classification System

More...PANTHERi		PTHR13678, PTHR13678, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF07200, Mod_r, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF140111, SSF140111, 1 hit
SSF54495, SSF54495, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51314, VPS37_C, 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 (3+)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 3 <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 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NEZ2-1) [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
MSWLFPLTKS ASSSAAGSPG GLTSLQQQKQ RLIESLRNSH SSIAEIQKDV 
        60         70         80         90        100
EYRLPFTINN LTININILLP PQFPQEKPVI SVYPPIRHHL MDKQGVYVTS 
       110        120        130        140        150
PLVNNFTMHS DLGKIIQSLL DEFWKNPPVL APTSTAFPYL YSNPSGMSPY 
       160        170        180        190        200
ASQGFPFLPP YPPQEANRSI TSLSVADTVS SSTTSHTTAK PAAPSFGVLS 
       210        220        230        240        250
NLPLPIPTVD ASIPTSQNGF GYKMPDVPDA FPELSELSVS QLTDMNEQEE 
       260        270        280        290        300
VLLEQFLTLP QLKQIITDKD DLVKSIEELA RKNLLLEPSL EAKRQTVLDK 
       310        320        330        340        350
YELLTQMKST FEKKMQRQHE LSESCSASAL QARLKVAAHE AEEESDNIAE 
       360        370        380        390 
DFLEGKMEID DFLSSFMEKR TICHCRRAKE EKLQQAIAMH SQFHAPL
Length:397
Mass (Da):44,314
Last modified:October 1, 2002 - 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:i96EBB670F04A0923
GO
Isoform 2 (identifier: Q8NEZ2-2) [UniParc]FASTAAdd to basket
Also known as: beta

The sequence of this isoform differs from the canonical sequence as follows:
     42-67: SIAEIQKDVEYRLPFTINNLTININI → R

Show »
Length:372
Mass (Da):41,456
Checksum:iC0793CE39FC71A49
GO
Isoform 3 (identifier: Q8NEZ2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     140-185: LYSNPSGMSP...ADTVSSSTTS → QLEIRWHHPH...KQEYHFFICC
     186-397: Missing.

Show »
Length:185
Mass (Da):20,891
Checksum:iAF11A1206F0BCA95
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YBN0H0YBN0_HUMAN
Vacuolar protein sorting-associated...
VPS37A
170Annotation score:

Annotation score:3 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>
E5RG91E5RG91_HUMAN
Vacuolar protein sorting-associated...
VPS37A
317Annotation 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>
E5RJX6E5RJX6_HUMAN
Vacuolar protein sorting-associated...
VPS37A
116Annotation 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>
E5RHB8E5RHB8_HUMAN
Vacuolar protein sorting-associated...
VPS37A
76Annotation 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>
E5RJ10E5RJ10_HUMAN
Vacuolar protein sorting-associated...
VPS37A
53Annotation 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 AAH22363 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 conflicti313K → R in BAB71381 (PubMed:14702039).Curated1
Sequence conflicti324S → I in AAH67754 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032287206I → F. Corresponds to variant dbSNP:rs17502618EnsemblClinVar.1
Natural variantiVAR_032288213I → V. Corresponds to variant dbSNP:rs17687375EnsemblClinVar.1
Natural variantiVAR_068424382K → N in SPG53; found in patients with complex hereditary spastic paraparesis; hypomorphic mutation; does not affect interaction with TSG101 and VPS28. 1 PublicationCorresponds to variant dbSNP:rs211694394EnsemblClinVar.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_02536742 – 67SIAEI…ININI → R in isoform 2. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_025368140 – 185LYSNP…SSTTS → QLEIRWHHPHCLEISLARSS NSLGFSISSSISSTRSKQEY HFFICC in isoform 3. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_025369186 – 397Missing in isoform 3. 1 PublicationAdd BLAST212

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
AY033079 mRNA Translation: AAK54349.1
AF547097 mRNA Translation: AAQ12067.1
AK057204 mRNA Translation: BAB71381.1
AL834189 mRNA Translation: CAD38883.1
BC022363 mRNA Translation: AAH22363.1 Different initiation.
BC067754 mRNA Translation: AAH67754.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS47811.1 [Q8NEZ2-2]
CCDS6001.1 [Q8NEZ2-1]

NCBI Reference Sequences

More...RefSeqi		NP_001138624.1, NM_001145152.1 [Q8NEZ2-2]
NP_689628.2, NM_152415.2 [Q8NEZ2-1]
XP_016868510.1, XM_017013021.1 [Q8NEZ2-1]
XP_016868511.1, XM_017013022.1
XP_016868515.1, XM_017013026.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000324849; ENSP00000318629; ENSG00000155975 [Q8NEZ2-1]
ENST00000425020; ENSP00000412824; ENSG00000155975 [Q8NEZ2-3]
ENST00000521829; ENSP00000429680; ENSG00000155975 [Q8NEZ2-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		137492

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:137492

UCSC genome browser

More...UCSCi		uc003wxj.4, human [Q8NEZ2-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
AY033079 mRNA Translation: AAK54349.1
AF547097 mRNA Translation: AAQ12067.1
AK057204 mRNA Translation: BAB71381.1
AL834189 mRNA Translation: CAD38883.1
BC022363 mRNA Translation: AAH22363.1 Different initiation.
BC067754 mRNA Translation: AAH67754.1
CCDSiCCDS47811.1 [Q8NEZ2-2]
CCDS6001.1 [Q8NEZ2-1]
RefSeqiNP_001138624.1, NM_001145152.1 [Q8NEZ2-2]
NP_689628.2, NM_152415.2 [Q8NEZ2-1]
XP_016868510.1, XM_017013021.1 [Q8NEZ2-1]
XP_016868511.1, XM_017013022.1
XP_016868515.1, XM_017013026.1

3D structure databases

SMRiQ8NEZ2
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi126479, 16 interactors
IntActiQ8NEZ2, 14 interactors
MINTiQ8NEZ2
STRINGi9606.ENSP00000318629

PTM databases

GlyGeniQ8NEZ2, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ8NEZ2
PhosphoSitePlusiQ8NEZ2

Polymorphism and mutation databases

BioMutaiVPS37A
DMDMi74715446

Proteomic databases

EPDiQ8NEZ2
jPOSTiQ8NEZ2
MassIVEiQ8NEZ2
MaxQBiQ8NEZ2
PaxDbiQ8NEZ2
PeptideAtlasiQ8NEZ2
PRIDEiQ8NEZ2
ProteomicsDBi73247 [Q8NEZ2-1]
73248 [Q8NEZ2-2]
73249 [Q8NEZ2-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		22259, 136 antibodies

The DNASU plasmid repository

More...DNASUi		137492

Genome annotation databases

EnsembliENST00000324849; ENSP00000318629; ENSG00000155975 [Q8NEZ2-1]
ENST00000425020; ENSP00000412824; ENSG00000155975 [Q8NEZ2-3]
ENST00000521829; ENSP00000429680; ENSG00000155975 [Q8NEZ2-2]
GeneIDi137492
KEGGihsa:137492
UCSCiuc003wxj.4, human [Q8NEZ2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		137492
DisGeNETi137492
EuPathDBiHostDB:ENSG00000155975.9

GeneCards: human genes, protein and diseases

More...GeneCardsi		VPS37A
HGNCiHGNC:24928, VPS37A
HPAiENSG00000155975, Low tissue specificity
MalaCardsiVPS37A
MIMi609927, gene
614898, phenotype
neXtProtiNX_Q8NEZ2
OpenTargetsiENSG00000155975
Orphaneti319199, Autosomal recessive spastic paraplegia type 53
PharmGKBiPA142670615

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3270, Eukaryota
GeneTreeiENSGT00950000183012
HOGENOMiCLU_062319_0_0_1
InParanoidiQ8NEZ2
KOiK12185
OMAiNGFTYKM
OrthoDBi1573421at2759
PhylomeDBiQ8NEZ2
TreeFamiTF332146

Enzyme and pathway databases

PathwayCommonsiQ8NEZ2
ReactomeiR-HSA-162588, Budding and maturation of HIV virion
R-HSA-174490, Membrane binding and targetting of GAG proteins
R-HSA-917729, Endosomal Sorting Complex Required For Transport (ESCRT)
R-HSA-9610379, HCMV Late Events
R-HSA-9615710, Late endosomal microautophagy

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		137492, 352 hits in 884 CRISPR screens

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

More...ChiTaRSi		VPS37A, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		VPS37A

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

More...GenomeRNAii		137492
PharosiQ8NEZ2, Tbio

Protein Ontology

More...PROi		PR:Q8NEZ2
RNActiQ8NEZ2, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000155975, Expressed in corpus callosum and 211 other tissues
ExpressionAtlasiQ8NEZ2, baseline and differential
GenevisibleiQ8NEZ2, HS

Family and domain databases

Gene3Di1.10.287.660, 1 hit
3.10.110.10, 1 hit
InterProiView protein in InterPro
IPR037202, ESCRT_assembly_dom
IPR029012, Helix_hairpin_bin_sf
IPR009851, Mod_r
IPR016135, UBQ-conjugating_enzyme/RWD
IPR037859, Vps37
PANTHERiPTHR13678, PTHR13678, 1 hit
PfamiView protein in Pfam
PF07200, Mod_r, 1 hit
SUPFAMiSSF140111, SSF140111, 1 hit
SSF54495, SSF54495, 1 hit
PROSITEiView protein in PROSITE
PS51314, VPS37_C, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

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

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiVP37A_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: Q8NEZ2
Secondary accession number(s): Q336D5
, Q6NW27, Q8N3D7, Q8TBL7, Q96DL9
<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: May 15, 2007
Last sequence update: October 1, 2002
Last modified: August 12, 2020
This is version 151 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

Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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