UniProtKB - Q8NEZ2 (VP37A_HUMAN)
Vacuolar protein sorting-associated protein 37A
VPS37A
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 PublicationGO - Biological processi
- macroautophagy Source: ParkinsonsUK-UCL
- multivesicular body assembly Source: ParkinsonsUK-UCL
- protein targeting to membrane Source: GO_Central
- protein targeting to vacuole Source: GO_Central
- ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway Source: UniProtKB
- viral budding via host ESCRT complex Source: ParkinsonsUK-UCL
Keywordsi
Biological process | Protein transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q8NEZ2 |
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 |
SignaLinki | Q8NEZ2 |
Names & Taxonomyi
Protein namesi | Recommended name: Vacuolar protein sorting-associated protein 37AShort name: hVps37A Alternative name(s): ESCRT-I complex subunit VPS37A Hepatocellular carcinoma-related protein 1 |
Gene namesi | Name:VPS37A Synonyms:HCRP1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:24928, VPS37A |
MIMi | 609927, gene |
neXtProti | NX_Q8NEZ2 |
VEuPathDBi | HostDB:ENSG00000155975 |
Subcellular locationi
Endosome
Nucleus
Cytoskeleton
- centrosome Source: HPA
Cytosol
- cytosol Source: HPA
Endosome
- endosome membrane Source: Reactome
- ESCRT I complex Source: UniProtKB
- late endosome membrane Source: UniProtKB-SubCell
Nucleus
- nucleoplasm Source: HPA
Other locations
- intracellular membrane-bounded organelle Source: HPA
Keywords - Cellular componenti
Endosome, Membrane, NucleusPathology & Biotechi
Involvement in diseasei
Spastic paraplegia 53, autosomal recessive (SPG53)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068424 | 382 | K → 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 variant, Hereditary spastic paraplegia, NeurodegenerationOrganism-specific databases
DisGeNETi | 137492 |
MalaCardsi | VPS37A |
MIMi | 614898, phenotype |
OpenTargetsi | ENSG00000155975 |
Orphaneti | 319199, Autosomal recessive spastic paraplegia type 53 |
PharmGKBi | PA142670615 |
Miscellaneous databases
Pharosi | Q8NEZ2, Tbio |
Genetic variation databases
BioMutai | VPS37A |
DMDMi | 74715446 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000287198 | 1 – 397 | Vacuolar protein sorting-associated protein 37AAdd BLAST | 397 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 18 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q8NEZ2 |
jPOSTi | Q8NEZ2 |
MassIVEi | Q8NEZ2 |
MaxQBi | Q8NEZ2 |
PaxDbi | Q8NEZ2 |
PeptideAtlasi | Q8NEZ2 |
PRIDEi | Q8NEZ2 |
ProteomicsDBi | 73247 [Q8NEZ2-1] 73248 [Q8NEZ2-2] 73249 [Q8NEZ2-3] |
PTM databases
GlyGeni | Q8NEZ2, 10 sites, 2 O-linked glycans (10 sites) |
iPTMneti | Q8NEZ2 |
PhosphoSitePlusi | Q8NEZ2 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000155975, Expressed in corpus callosum and 211 other tissues |
ExpressionAtlasi | Q8NEZ2, baseline and differential |
Genevisiblei | Q8NEZ2, HS |
Organism-specific databases
HPAi | ENSG00000155975, Low tissue specificity |
Interactioni
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 PublicationsBinary interactionsi
Q8NEZ2
Isoform 2 [Q8NEZ2-2]
Protein-protein interaction databases
BioGRIDi | 126479, 29 interactors |
IntActi | Q8NEZ2, 36 interactors |
MINTi | Q8NEZ2 |
STRINGi | 9606.ENSP00000318629 |
Miscellaneous databases
RNActi | Q8NEZ2, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 308 – 397 | VPS37 C-terminalPROSITE-ProRule annotationAdd BLAST | 90 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 22 | DisorderedSequence analysisAdd BLAST | 22 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG3270, Eukaryota |
GeneTreei | ENSGT00950000183012 |
HOGENOMi | CLU_062319_0_0_1 |
InParanoidi | Q8NEZ2 |
OMAi | HIKECLR |
OrthoDBi | 1573421at2759 |
PhylomeDBi | Q8NEZ2 |
TreeFami | TF332146 |
Family and domain databases
Gene3Di | 1.10.287.660, 1 hit 3.10.110.10, 1 hit |
InterProi | View protein in InterPro IPR037202, ESCRT_assembly_dom IPR029012, Helix_hairpin_bin_sf IPR009851, Mod_r IPR016135, UBQ-conjugating_enzyme/RWD |
Pfami | View protein in Pfam PF07200, Mod_r, 1 hit |
SUPFAMi | SSF140111, SSF140111, 1 hit SSF54495, SSF54495, 1 hit |
PROSITEi | View protein in PROSITE PS51314, VPS37_C, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YBN0 | H0YBN0_HUMAN | Vacuolar protein sorting-associated... | VPS37A | 170 | Annotation score: | ||
E5RG91 | E5RG91_HUMAN | Vacuolar protein sorting-associated... | VPS37A | 317 | Annotation score: | ||
E5RJX6 | E5RJX6_HUMAN | Vacuolar protein sorting-associated... | VPS37A | 116 | Annotation score: | ||
E5RHB8 | E5RHB8_HUMAN | Vacuolar protein sorting-associated... | VPS37A | 76 | Annotation score: | ||
E5RJ10 | E5RJ10_HUMAN | Vacuolar protein sorting-associated... | VPS37A | 53 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 313 | K → R in BAB71381 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 324 | S → I in AAH67754 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_032287 | 206 | I → F. Corresponds to variant dbSNP:rs17502618EnsemblClinVar. | 1 | |
Natural variantiVAR_032288 | 213 | I → V. Corresponds to variant dbSNP:rs17687375EnsemblClinVar. | 1 | |
Natural variantiVAR_068424 | 382 | K → 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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_025367 | 42 – 67 | SIAEI…ININI → R in isoform 2. 1 PublicationAdd BLAST | 26 | |
Alternative sequenceiVSP_025368 | 140 – 185 | LYSNP…SSTTS → QLEIRWHHPHCLEISLARSS NSLGFSISSSISSTRSKQEY HFFICC in isoform 3. 1 PublicationAdd BLAST | 46 | |
Alternative sequenceiVSP_025369 | 186 – 397 | Missing in isoform 3. 1 PublicationAdd BLAST | 212 |
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 |
CCDSi | CCDS47811.1 [Q8NEZ2-2] CCDS6001.1 [Q8NEZ2-1] |
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
Ensembli | ENST00000324849.9; ENSP00000318629.4; ENSG00000155975.10 ENST00000425020.6; ENSP00000412824.2; ENSG00000155975.10 [Q8NEZ2-3] ENST00000521829.5; ENSP00000429680.1; ENSG00000155975.10 [Q8NEZ2-2] |
GeneIDi | 137492 |
KEGGi | hsa:137492 |
MANE-Selecti | ENST00000324849.9; ENSP00000318629.4; NM_152415.3; NP_689628.2 |
UCSCi | uc003wxj.4, human [Q8NEZ2-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS47811.1 [Q8NEZ2-2] CCDS6001.1 [Q8NEZ2-1] |
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 |
3D structure databases
AlphaFoldDBi | Q8NEZ2 |
SMRi | Q8NEZ2 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 126479, 29 interactors |
IntActi | Q8NEZ2, 36 interactors |
MINTi | Q8NEZ2 |
STRINGi | 9606.ENSP00000318629 |
PTM databases
GlyGeni | Q8NEZ2, 10 sites, 2 O-linked glycans (10 sites) |
iPTMneti | Q8NEZ2 |
PhosphoSitePlusi | Q8NEZ2 |
Genetic variation databases
BioMutai | VPS37A |
DMDMi | 74715446 |
Proteomic databases
EPDi | Q8NEZ2 |
jPOSTi | Q8NEZ2 |
MassIVEi | Q8NEZ2 |
MaxQBi | Q8NEZ2 |
PaxDbi | Q8NEZ2 |
PeptideAtlasi | Q8NEZ2 |
PRIDEi | Q8NEZ2 |
ProteomicsDBi | 73247 [Q8NEZ2-1] 73248 [Q8NEZ2-2] 73249 [Q8NEZ2-3] |
Protocols and materials databases
Antibodypediai | 22259, 146 antibodies from 24 providers |
DNASUi | 137492 |
Genome annotation databases
Ensembli | ENST00000324849.9; ENSP00000318629.4; ENSG00000155975.10 ENST00000425020.6; ENSP00000412824.2; ENSG00000155975.10 [Q8NEZ2-3] ENST00000521829.5; ENSP00000429680.1; ENSG00000155975.10 [Q8NEZ2-2] |
GeneIDi | 137492 |
KEGGi | hsa:137492 |
MANE-Selecti | ENST00000324849.9; ENSP00000318629.4; NM_152415.3; NP_689628.2 |
UCSCi | uc003wxj.4, human [Q8NEZ2-1] |
Organism-specific databases
CTDi | 137492 |
DisGeNETi | 137492 |
GeneCardsi | VPS37A |
HGNCi | HGNC:24928, VPS37A |
HPAi | ENSG00000155975, Low tissue specificity |
MalaCardsi | VPS37A |
MIMi | 609927, gene 614898, phenotype |
neXtProti | NX_Q8NEZ2 |
OpenTargetsi | ENSG00000155975 |
Orphaneti | 319199, Autosomal recessive spastic paraplegia type 53 |
PharmGKBi | PA142670615 |
VEuPathDBi | HostDB:ENSG00000155975 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3270, Eukaryota |
GeneTreei | ENSGT00950000183012 |
HOGENOMi | CLU_062319_0_0_1 |
InParanoidi | Q8NEZ2 |
OMAi | HIKECLR |
OrthoDBi | 1573421at2759 |
PhylomeDBi | Q8NEZ2 |
TreeFami | TF332146 |
Enzyme and pathway databases
PathwayCommonsi | Q8NEZ2 |
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 |
SignaLinki | Q8NEZ2 |
Miscellaneous databases
BioGRID-ORCSi | 137492, 379 hits in 1085 CRISPR screens |
ChiTaRSi | VPS37A, human |
GeneWikii | VPS37A |
GenomeRNAii | 137492 |
Pharosi | Q8NEZ2, Tbio |
PROi | PR:Q8NEZ2 |
RNActi | Q8NEZ2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000155975, Expressed in corpus callosum and 211 other tissues |
ExpressionAtlasi | Q8NEZ2, baseline and differential |
Genevisiblei | Q8NEZ2, HS |
Family and domain databases
Gene3Di | 1.10.287.660, 1 hit 3.10.110.10, 1 hit |
InterProi | View protein in InterPro IPR037202, ESCRT_assembly_dom IPR029012, Helix_hairpin_bin_sf IPR009851, Mod_r IPR016135, UBQ-conjugating_enzyme/RWD |
Pfami | View protein in Pfam PF07200, Mod_r, 1 hit |
SUPFAMi | SSF140111, SSF140111, 1 hit SSF54495, SSF54495, 1 hit |
PROSITEi | View protein in PROSITE PS51314, VPS37_C, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | VP37A_HUMAN | |
Accessioni | Q8NEZ2Primary (citable) accession number: Q8NEZ2 Secondary accession number(s): Q336D5 Q96DL9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 15, 2007 |
Last sequence update: | October 1, 2002 | |
Last modified: | May 25, 2022 | |
This is version 159 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families