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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-Experimental evidence at protein leveli

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

GO - Biological processi

  • autophagy Source: ParkinsonsUK-UCL
  • endosomal transport Source: Reactome
  • intracellular transport of virus Source: Reactome
  • multivesicular body assembly Source: ParkinsonsUK-UCL
  • protein transport Source: UniProtKB-KW
  • ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway Source: UniProtKB
  • viral budding via host ESCRT complex Source: ParkinsonsUK-UCL
  • viral life cycle Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000155975-MONOMER.
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).

Names & Taxonomyi

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
Gene namesi
Name:VPS37A
Synonyms:HCRP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:24928. VPS37A.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endosome, Membrane, Nucleus

Pathology & Biotechi

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.
See also OMIM:614898
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 rs211694394dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNETi137492.
MalaCardsiVPS37A.
MIMi614898. phenotype.
OpenTargetsiENSG00000155975.
Orphaneti319199. Autosomal recessive spastic paraplegia type 53.
PharmGKBiPA142670615.

Polymorphism and mutation databases

BioMutaiVPS37A.
DMDMi74715446.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002871981 – 397Vacuolar protein sorting-associated protein 37AAdd BLAST397

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei18PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8NEZ2.
MaxQBiQ8NEZ2.
PaxDbiQ8NEZ2.
PeptideAtlasiQ8NEZ2.
PRIDEiQ8NEZ2.

PTM databases

iPTMnetiQ8NEZ2.
PhosphoSitePlusiQ8NEZ2.

Expressioni

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

BgeeiENSG00000155975.
CleanExiHS_VPS37A.
ExpressionAtlasiQ8NEZ2. baseline and differential.
GenevisibleiQ8NEZ2. HS.

Organism-specific databases

HPAiHPA024705.
HPA024781.

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 stoechiometry. 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 stoechiometry.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
TRIM42Q8IWZ53EBI-10270911,EBI-5235829
TSG101Q998165EBI-2850578,EBI-346882

Protein-protein interaction databases

BioGridi126479. 13 interactors.
IntActiQ8NEZ2. 9 interactors.
MINTiMINT-2811404.
STRINGi9606.ENSP00000318629.

Structurei

3D structure databases

ProteinModelPortaliQ8NEZ2.
SMRiQ8NEZ2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini308 – 397VPS37 C-terminalPROSITE-ProRule annotationAdd BLAST90

Sequence similaritiesi

Belongs to the VPS37 family.Curated
Contains 1 VPS37 C-terminal domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3270. Eukaryota.
ENOG4111UJN. LUCA.
GeneTreeiENSGT00530000063123.
HOGENOMiHOG000008031.
HOVERGENiHBG054793.
InParanoidiQ8NEZ2.
KOiK12185.
OMAiPPYASQG.
OrthoDBiEOG091G0GMF.
PhylomeDBiQ8NEZ2.
TreeFamiTF332146.

Family and domain databases

Gene3Di3.10.110.10. 1 hit.
InterProiIPR009851. Mod_r.
IPR016135. UBQ-conjugating_enzyme/RWD.
[Graphical view]
PfamiPF07200. Mod_r. 1 hit.
[Graphical view]
SUPFAMiSSF54495. SSF54495. 1 hit.
PROSITEiPS51314. VPS37_C. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NEZ2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
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

Sequence cautioni

The sequence AAH22363 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 rs17502618dbSNPEnsembl.1
Natural variantiVAR_032288213I → V.Corresponds to variant rs17687375dbSNPEnsembl.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 rs211694394dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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. [Q8NEZ2-1]
XP_016868515.1. XM_017013026.1.
UniGeneiHs.343873.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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. [Q8NEZ2-1]
XP_016868515.1. XM_017013026.1.
UniGeneiHs.343873.

3D structure databases

ProteinModelPortaliQ8NEZ2.
SMRiQ8NEZ2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126479. 13 interactors.
IntActiQ8NEZ2. 9 interactors.
MINTiMINT-2811404.
STRINGi9606.ENSP00000318629.

PTM databases

iPTMnetiQ8NEZ2.
PhosphoSitePlusiQ8NEZ2.

Polymorphism and mutation databases

BioMutaiVPS37A.
DMDMi74715446.

Proteomic databases

EPDiQ8NEZ2.
MaxQBiQ8NEZ2.
PaxDbiQ8NEZ2.
PeptideAtlasiQ8NEZ2.
PRIDEiQ8NEZ2.

Protocols and materials databases

DNASUi137492.
Structural Biology KnowledgebaseSearch...

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

CTDi137492.
DisGeNETi137492.
GeneCardsiVPS37A.
HGNCiHGNC:24928. VPS37A.
HPAiHPA024705.
HPA024781.
MalaCardsiVPS37A.
MIMi609927. gene.
614898. phenotype.
neXtProtiNX_Q8NEZ2.
OpenTargetsiENSG00000155975.
Orphaneti319199. Autosomal recessive spastic paraplegia type 53.
PharmGKBiPA142670615.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3270. Eukaryota.
ENOG4111UJN. LUCA.
GeneTreeiENSGT00530000063123.
HOGENOMiHOG000008031.
HOVERGENiHBG054793.
InParanoidiQ8NEZ2.
KOiK12185.
OMAiPPYASQG.
OrthoDBiEOG091G0GMF.
PhylomeDBiQ8NEZ2.
TreeFamiTF332146.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000155975-MONOMER.
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).

Miscellaneous databases

ChiTaRSiVPS37A. human.
GeneWikiiVPS37A.
GenomeRNAii137492.
PROiQ8NEZ2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000155975.
CleanExiHS_VPS37A.
ExpressionAtlasiQ8NEZ2. baseline and differential.
GenevisibleiQ8NEZ2. HS.

Family and domain databases

Gene3Di3.10.110.10. 1 hit.
InterProiIPR009851. Mod_r.
IPR016135. UBQ-conjugating_enzyme/RWD.
[Graphical view]
PfamiPF07200. Mod_r. 1 hit.
[Graphical view]
SUPFAMiSSF54495. SSF54495. 1 hit.
PROSITEiPS51314. VPS37_C. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiVP37A_HUMAN
AccessioniPrimary (citable) accession number: Q8NEZ2
Secondary accession number(s): Q336D5
, Q6NW27, Q8N3D7, Q8TBL7, Q96DL9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: October 1, 2002
Last modified: November 30, 2016
This is version 122 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.