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UniProtKB - Q8NEZ2 (VP37A_HUMAN)

Protein

Vacuolar protein sorting-associated protein 37A

Gene

VPS37A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000155975.9
HGNCiHGNC:24928 VPS37A
MIMi609927 gene
neXtProtiNX_Q8NEZ2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

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 dbSNP:rs211694394EnsemblClinVar.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
ProteomicsDBi73247
73248 [Q8NEZ2-2]
73249 [Q8NEZ2-3]

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 Expressed in 199 organ(s), highest expression level in corpus callosum
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 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

Binary interactionsi

Protein-protein interaction databases

BioGridi126479, 15 interactors
IntActiQ8NEZ2, 9 interactors
MINTiQ8NEZ2
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

Phylogenomic databases

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

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

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 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 '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

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:
E5RG91E5RG91_HUMAN
Vacuolar protein sorting-associated...
VPS37A
317Annotation score:
E5RHB8E5RHB8_HUMAN
Vacuolar protein sorting-associated...
VPS37A
76Annotation score:
E5RJX6E5RJX6_HUMAN
Vacuolar protein sorting-associated...
VPS37A
116Annotation score:
E5RJ10E5RJ10_HUMAN
Vacuolar protein sorting-associated...
VPS37A
53Annotation score:

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 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
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
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

Similar 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
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
UniGeneiHs.343873

3D structure databases

ProteinModelPortaliQ8NEZ2
SMRiQ8NEZ2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126479, 15 interactors
IntActiQ8NEZ2, 9 interactors
MINTiQ8NEZ2
STRINGi9606.ENSP00000318629

PTM databases

iPTMnetiQ8NEZ2
PhosphoSitePlusiQ8NEZ2

Polymorphism and mutation databases

BioMutaiVPS37A
DMDMi74715446

Proteomic databases

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

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
EuPathDBiHostDB:ENSG00000155975.9
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
OMAiYLYSNPG
OrthoDBiEOG091G0GMF
PhylomeDBiQ8NEZ2
TreeFamiTF332146

Enzyme and pathway databases

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
PROiPR:Q8NEZ2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000155975 Expressed in 199 organ(s), highest expression level in corpus callosum
CleanExiHS_VPS37A
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
ProtoNetiSearch...

Entry informationi

Entry nameiVP37A_HUMAN
AccessioniPrimary (citable) accession number: Q8NEZ2
Secondary accession number(s): Q336D5
, Q6NW27, Q8N3D7, Q8TBL7, Q96DL9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: October 1, 2002
Last modified: November 7, 2018
This is version 138 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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