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Entry version 176 (07 Oct 2020)
Sequence version 3 (16 Dec 2008)
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Protein

Vacuolar protein sorting-associated protein 41 homolog

Gene

VPS41

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 in part as a core component of the putative HOPS endosomal tethering complex is 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 (PubMed:23351085). Involved in homotypic vesicle fusions between late endosomes and in heterotypic fusions between late endosomes and lysosomes implicated in degradation of endocytosed cargo (PubMed:9159129, PubMed:23167963, PubMed:25445562, PubMed:25908847). Required for fusion of autophagosomes with lysosomes (PubMed:25783203). May link the HOPS complex to endosomal Rab7 via its association with RILP and to lysosomal membranes via its association with ARL8B, suggesting that these interactions may bring the compartments to close proximity for fusion (PubMed:25445562, PubMed:25908847). Involved in the direct trans-Golgi network to late endosomes transport of lysosomal membrane proteins independently of HOPS (PubMed:23322049). Involved in sorting to the regulated secretory pathway presumably implicating the AP-3 adaptor complex (By similarity). May play a role in HOPS-independent function in the regulated secretory pathway (PubMed:24210660).By similarity4 Publications6 Publications

Miscellaneous

Protective against both alpha-synuclein and neurotoxic-mediated injury in invertebrate and cellular models of Parkinson's disease (PD); the function requires the AP-3 adaptor complex and the HOPS complex.2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri791 – 839RING-type; atypicalPROSITE-ProRule annotationAdd BLAST49

<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 - Molecular functioni

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
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
P49754

<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 41 homolog
Alternative name(s):
S53
<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:VPS41
<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 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000006715.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:12713, VPS41

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605485, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P49754

<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

Cytoplasmic vesicle, Endosome, Golgi apparatus, 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

Organism-specific databases

DisGeNET

More...
DisGeNETi
27072

Open Targets

More...
OpenTargetsi
ENSG00000006715

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37328

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P49754, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
VPS41

Domain mapping of disease mutations (DMDM)

More...
DMDMi
218512109

<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_00002128231 – 854Vacuolar protein sorting-associated protein 41 homologAdd BLAST854

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P49754

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P49754

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P49754

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P49754

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

More...
PaxDbi
P49754

PeptideAtlas

More...
PeptideAtlasi
P49754

PRoteomics IDEntifications database

More...
PRIDEi
P49754

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
20017
56068 [P49754-1]
56069 [P49754-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P49754

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

More...
PhosphoSitePlusi
P49754

<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
ENSG00000006715, Expressed in corpus callosum and 224 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P49754, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P49754, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000006715, 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 putative homotypic fusion and vacuole protein sorting (HOPS) complex; the core of which composed of the class C Vps proteins VPS11, VPS16, VPS18 and VPS33A, is associated with VPS39 and VPS41 (PubMed:23351085, PubMed:25445562, PubMed:25908847).

Interacts with RILP, MON1B (PubMed:20434987, PubMed:25445562).

Interacts with ARL8B (GTP-bound form); involved in recruitment to lysosomes and probably hierarchial assembly of the HOPS complex at lysosomal membranes (PubMed:25908847). In vitro can self-assemble into a lattice (PubMed:24210660). Associates with adaptor protein complex 3 (AP-3) and clathrin:AP-3 complexes (PubMed:21411634).

Interacts with STX17; this interaction is increased in the absence of TMEM39A (PubMed:31806350).

4 Publications4 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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
117982, 35 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
P49754

Protein interaction database and analysis system

More...
IntActi
P49754, 24 interactors

Molecular INTeraction database

More...
MINTi
P49754

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000309457

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P49754, 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

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SMRi
P49754

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 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati568 – 712CHCRAdd BLAST145

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 540Interaction with ARL8B1 PublicationAdd BLAST540

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi18 – 27Poly-Glu10

<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 VPS41 family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri791 – 839RING-type; atypicalPROSITE-ProRule annotationAdd BLAST49

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2066, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000000481

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_001285_2_2_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P49754

KEGG Orthology (KO)

More...
KOi
K20184

Identification of Orthologs from Complete Genome Data

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OMAi
RCSLGLI

Database of Orthologous Groups

More...
OrthoDBi
722805at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P49754

TreeFam database of animal gene trees

More...
TreeFami
TF300451

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.10, 1 hit
2.130.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000547, Clathrin_H-chain/VPS_repeat
IPR011990, TPR-like_helical_dom_sf
IPR016902, VPS41
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR036322, WD40_repeat_dom_sf
IPR001841, Znf_RING

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00637, Clathrin, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF028921, VPS41, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00299, CLH, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF50978, SSF50978, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50236, CHCR, 1 hit
PS50089, ZF_RING_2, 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 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P49754-1) [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
MAEAEEQETG SLEESTDESE EEESEEEPKL KYERLSNGVT EILQKDAASC
60 70 80 90 100
MTVHDKFLAL GTHYGKVYLL DVQGNITQKF DVSPVKINQI SLDESGEHMG
110 120 130 140 150
VCSEDGKVQV FGLYSGEEFH ETFDCPIKII AVHPHFVRSS CKQFVTGGKK
160 170 180 190 200
LLLFERSWMN RWKSAVLHEG EGNIRSVKWR GHLIAWANNM GVKIFDIISK
210 220 230 240 250
QRITNVPRDD ISLRPDMYPC SLCWKDNVTL IIGWGTSVKV CSVKERHASE
260 270 280 290 300
MRDLPSRYVE IVSQFETEFY ISGLAPLCDQ LVVLSYVKEI SEKTEREYCA
310 320 330 340 350
RPRLDIIQPL SETCEEISSD ALTVRGFQEN ECRDYHLEYS EGESLFYIVS
360 370 380 390 400
PRDVVVAKER DQDDHIDWLL EKKKYEEALM AAEISQKNIK RHKILDIGLA
410 420 430 440 450
YINHLVERGD YDIAARKCQK ILGKNAALWE YEVYKFKEIG QLKAISPYLP
460 470 480 490 500
RGDPVLKPLI YEMILHEFLE SDYEGFATLI REWPGDLYNN SVIVQAVRDH
510 520 530 540 550
LKKDSQNKTL LKTLAELYTY DKNYGNALEI YLTLRHKDVF QLIHKHNLFS
560 570 580 590 600
SIKDKIVLLM DFDSEKAVDM LLDNEDKISI KKVVEELEDR PELQHVYLHK
610 620 630 640 650
LFKRDHHKGQ RYHEKQISLY AEYDRPNLLP FLRDSTHCPL EKALEICQQR
660 670 680 690 700
NFVEETVYLL SRMGNSRSAL KMIMEELHDV DKAIEFAKEQ DDGELWEDLI
710 720 730 740 750
LYSIDKPPFI TGLLNNIGTH VDPILLIHRI KEGMEIPNLR DSLVKILQDY
760 770 780 790 800
NLQILLREGC KKILVADSLS LLKKMHRTQM KGVLVDEENI CESCLSPILP
810 820 830 840 850
SDAAKPFSVV VFHCRHMFHK ECLPMPSMNS AAQFCNICSA KNRGPGSAIL

EMKK
Length:854
Mass (Da):98,566
Last modified:December 16, 2008 - v3
<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:i037577D5FA3A18A0
GO
Isoform 2 (identifier: P49754-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     802-802: D → E
     803-854: Missing.

Show »
Length:802
Mass (Da):92,846
Checksum:iA55F7C217AC0D88E
GO
Isoform 3 (identifier: P49754-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     83-107: Missing.

Show »
Length:829
Mass (Da):95,924
Checksum:i6F1E1E9EAA2859B4
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C0K2H7C0K2_HUMAN
Vacuolar protein sorting-associated...
VPS41
109Annotation 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>
H7BZX6H7BZX6_HUMAN
Vacuolar protein sorting-associated...
VPS41
150Annotation 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>
H7BXH3H7BXH3_HUMAN
Vacuolar protein sorting-associated...
VPS41
209Annotation 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>
C9JU58C9JU58_HUMAN
Vacuolar protein sorting-associated...
VPS41
156Annotation 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>
C9J2U9C9J2U9_HUMAN
Vacuolar protein sorting-associated...
VPS41
73Annotation 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>
C9J3F8C9J3F8_HUMAN
Vacuolar protein sorting-associated...
VPS41
177Annotation 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>
C9JZ11C9JZ11_HUMAN
Vacuolar protein sorting-associated...
VPS41
104Annotation score:

Annotation score:1 out of 5

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti5E → V in AAB47563 (PubMed:9159129).Curated1
Sequence conflicti615 – 618KQIS → WHEG in AAC42004 (PubMed:7596406).Curated4
Sequence conflicti736 – 744IPNLRDSLV → DPQFERFLG in AAC42004 (PubMed:7596406).Curated9

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_047914146T → P Disrupts interaction with ARL8B; impairs lysosomal localization and degradation of endocytosed cargo. 1 PublicationCorresponds to variant dbSNP:rs35693565Ensembl.1
Natural variantiVAR_047915647C → R. Corresponds to variant dbSNP:rs11762417Ensembl.1
Natural variantiVAR_047916843R → H. Corresponds to variant dbSNP:rs1059508Ensembl.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_05416983 – 107Missing in isoform 3. CuratedAdd BLAST25
Alternative sequenceiVSP_006751802D → E in isoform 2. 1 Publication1
Alternative sequenceiVSP_006752803 – 854Missing in isoform 2. 1 PublicationAdd BLAST52

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
U87281 mRNA Translation: AAB47758.1
U87309 mRNA Translation: AAB47563.1
AC004850 Genomic DNA No translation available.
AC005247 Genomic DNA No translation available.
AC011292 Genomic DNA No translation available.
BC044851 mRNA Translation: AAH44851.1
L40398 mRNA Translation: AAC42004.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS5457.1 [P49754-1]
CCDS5458.2 [P49754-3]

NCBI Reference Sequences

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RefSeqi
NP_055211.2, NM_014396.3 [P49754-1]
NP_542198.2, NM_080631.3 [P49754-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000310301; ENSP00000309457; ENSG00000006715 [P49754-1]
ENST00000395969; ENSP00000379297; ENSG00000006715 [P49754-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
27072

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:27072

UCSC genome browser

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UCSCi
uc003tgy.4, human [P49754-1]

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
U87281 mRNA Translation: AAB47758.1
U87309 mRNA Translation: AAB47563.1
AC004850 Genomic DNA No translation available.
AC005247 Genomic DNA No translation available.
AC011292 Genomic DNA No translation available.
BC044851 mRNA Translation: AAH44851.1
L40398 mRNA Translation: AAC42004.1
CCDSiCCDS5457.1 [P49754-1]
CCDS5458.2 [P49754-3]
RefSeqiNP_055211.2, NM_014396.3 [P49754-1]
NP_542198.2, NM_080631.3 [P49754-3]

3D structure databases

SMRiP49754
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi117982, 35 interactors
CORUMiP49754
IntActiP49754, 24 interactors
MINTiP49754
STRINGi9606.ENSP00000309457

PTM databases

iPTMnetiP49754
PhosphoSitePlusiP49754

Polymorphism and mutation databases

BioMutaiVPS41
DMDMi218512109

Proteomic databases

EPDiP49754
jPOSTiP49754
MassIVEiP49754
MaxQBiP49754
PaxDbiP49754
PeptideAtlasiP49754
PRIDEiP49754
ProteomicsDBi20017
56068 [P49754-1]
56069 [P49754-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
13056, 121 antibodies

Genome annotation databases

EnsembliENST00000310301; ENSP00000309457; ENSG00000006715 [P49754-1]
ENST00000395969; ENSP00000379297; ENSG00000006715 [P49754-3]
GeneIDi27072
KEGGihsa:27072
UCSCiuc003tgy.4, human [P49754-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
27072
DisGeNETi27072
EuPathDBiHostDB:ENSG00000006715.15

GeneCards: human genes, protein and diseases

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GeneCardsi
VPS41
HGNCiHGNC:12713, VPS41
HPAiENSG00000006715, Low tissue specificity
MIMi605485, gene
neXtProtiNX_P49754
OpenTargetsiENSG00000006715
PharmGKBiPA37328

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2066, Eukaryota
GeneTreeiENSGT00390000000481
HOGENOMiCLU_001285_2_2_1
InParanoidiP49754
KOiK20184
OMAiRCSLGLI
OrthoDBi722805at2759
PhylomeDBiP49754
TreeFamiTF300451

Enzyme and pathway databases

PathwayCommonsiP49754

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
27072, 384 hits in 881 CRISPR screens

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

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ChiTaRSi
VPS41, human

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

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GenomeRNAii
27072
PharosiP49754, Tbio

Protein Ontology

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PROi
PR:P49754
RNActiP49754, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000006715, Expressed in corpus callosum and 224 other tissues
ExpressionAtlasiP49754, baseline and differential
GenevisibleiP49754, HS

Family and domain databases

Gene3Di1.25.40.10, 1 hit
2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR000547, Clathrin_H-chain/VPS_repeat
IPR011990, TPR-like_helical_dom_sf
IPR016902, VPS41
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR036322, WD40_repeat_dom_sf
IPR001841, Znf_RING
PfamiView protein in Pfam
PF00637, Clathrin, 1 hit
PIRSFiPIRSF028921, VPS41, 1 hit
SMARTiView protein in SMART
SM00299, CLH, 1 hit
SUPFAMiSSF50978, SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS50236, CHCR, 1 hit
PS50089, ZF_RING_2, 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 nameiVPS41_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: P49754
Secondary accession number(s): E9PF36
, Q86TP8, Q99851, Q99852
<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: October 1, 1996
Last sequence update: December 16, 2008
Last modified: October 7, 2020
This is version 176 of the entry and version 3 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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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