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Q8NEZ2

- VP37A_HUMAN

UniProt

Q8NEZ2 - VP37A_HUMAN

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Protein

Vacuolar protein sorting-associated protein 37A

Gene

VPS37A

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. cell death Source: UniProtKB-KW
  2. endosomal transport Source: Reactome
  3. intracellular transport of virus Source: Reactome
  4. membrane organization Source: Reactome
  5. protein transport Source: UniProtKB-KW
  6. ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway Source: UniProtKB
  7. viral life cycle Source: Reactome
  8. viral process Source: Reactome
  9. viral protein processing Source: Reactome
  10. virion assembly Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Enzyme and pathway databases

ReactomeiREACT_115893. Membrane binding and targetting of GAG proteins.
REACT_27258. Endosomal Sorting Complex Required For Transport (ESCRT).
REACT_6359. Budding and maturation of HIV virion.

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
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:24928. VPS37A.

Subcellular locationi

GO - Cellular componenti

  1. centrosome Source: HPA
  2. cytoplasm Source: HPA
  3. endosome membrane Source: Reactome
  4. ESCRT I complex Source: UniProtKB
  5. intracellular membrane-bounded organelle Source: HPA
  6. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Endosome, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 53, autosomal recessive (SPG53) [MIM:614898]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti382 – 3821K → N in SPG53; found in patients with complex hereditary spastic paraparesis; hypomorphic mutation; does not affect interaction with TSG101 and VPS28. 1 Publication
VAR_068424

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

MIMi614898. phenotype.
Orphaneti319199. Autosomal recessive spastic paraplegia type 53.
PharmGKBiPA142670615.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 397397Vacuolar protein sorting-associated protein 37APRO_0000287198Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei18 – 181Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ8NEZ2.
PaxDbiQ8NEZ2.
PRIDEiQ8NEZ2.

PTM databases

PhosphoSiteiQ8NEZ2.

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

BgeeiQ8NEZ2.
CleanExiHS_VPS37A.
ExpressionAtlasiQ8NEZ2. baseline and differential.
GenevestigatoriQ8NEZ2.

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

Protein-protein interaction databases

BioGridi126479. 13 interactions.
IntActiQ8NEZ2. 4 interactions.
MINTiMINT-2811404.
STRINGi9606.ENSP00000318629.

Structurei

3D structure databases

ProteinModelPortaliQ8NEZ2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini308 – 39790VPS37 C-terminalPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiNOG243233.
GeneTreeiENSGT00530000063123.
HOGENOMiHOG000008031.
HOVERGENiHBG054793.
InParanoidiQ8NEZ2.
KOiK12185.
OMAiPPYASQG.
OrthoDBiEOG7KQ22B.
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. Align

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 AAH22363.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti313 – 3131K → R in BAB71381. (PubMed:14702039)Curated
Sequence conflicti324 – 3241S → I in AAH67754. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti206 – 2061I → F.
Corresponds to variant rs17502618 [ dbSNP | Ensembl ].
VAR_032287
Natural varianti213 – 2131I → V.
Corresponds to variant rs17687375 [ dbSNP | Ensembl ].
VAR_032288
Natural varianti382 – 3821K → N in SPG53; found in patients with complex hereditary spastic paraparesis; hypomorphic mutation; does not affect interaction with TSG101 and VPS28. 1 Publication
VAR_068424

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei42 – 6726SIAEI…ININI → R in isoform 2. 1 PublicationVSP_025367Add
BLAST
Alternative sequencei140 – 18546LYSNP…SSTTS → QLEIRWHHPHCLEISLARSS NSLGFSISSSISSTRSKQEY HFFICC in isoform 3. 1 PublicationVSP_025368Add
BLAST
Alternative sequencei186 – 397212Missing in isoform 3. 1 PublicationVSP_025369Add
BLAST

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]
UniGeneiHs.343873.

Genome annotation databases

EnsembliENST00000324849; ENSP00000318629; ENSG00000155975. [Q8NEZ2-1]
ENST00000425020; ENSP00000412824; ENSG00000155975. [Q8NEZ2-3]
ENST00000521829; ENSP00000429680; ENSG00000155975. [Q8NEZ2-2]
GeneIDi137492.
KEGGihsa:137492.
UCSCiuc003wxj.3. human. [Q8NEZ2-1]
uc003wxk.3. human. [Q8NEZ2-2]

Polymorphism databases

DMDMi74715446.

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 .
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 ]
UniGenei Hs.343873.

3D structure databases

ProteinModelPortali Q8NEZ2.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126479. 13 interactions.
IntActi Q8NEZ2. 4 interactions.
MINTi MINT-2811404.
STRINGi 9606.ENSP00000318629.

PTM databases

PhosphoSitei Q8NEZ2.

Polymorphism databases

DMDMi 74715446.

Proteomic databases

MaxQBi Q8NEZ2.
PaxDbi Q8NEZ2.
PRIDEi Q8NEZ2.

Protocols and materials databases

DNASUi 137492.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000324849 ; ENSP00000318629 ; ENSG00000155975 . [Q8NEZ2-1 ]
ENST00000425020 ; ENSP00000412824 ; ENSG00000155975 . [Q8NEZ2-3 ]
ENST00000521829 ; ENSP00000429680 ; ENSG00000155975 . [Q8NEZ2-2 ]
GeneIDi 137492.
KEGGi hsa:137492.
UCSCi uc003wxj.3. human. [Q8NEZ2-1 ]
uc003wxk.3. human. [Q8NEZ2-2 ]

Organism-specific databases

CTDi 137492.
GeneCardsi GC08P017149.
HGNCi HGNC:24928. VPS37A.
HPAi HPA024705.
HPA024781.
MIMi 609927. gene.
614898. phenotype.
neXtProti NX_Q8NEZ2.
Orphaneti 319199. Autosomal recessive spastic paraplegia type 53.
PharmGKBi PA142670615.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG243233.
GeneTreei ENSGT00530000063123.
HOGENOMi HOG000008031.
HOVERGENi HBG054793.
InParanoidi Q8NEZ2.
KOi K12185.
OMAi PPYASQG.
OrthoDBi EOG7KQ22B.
PhylomeDBi Q8NEZ2.
TreeFami TF332146.

Enzyme and pathway databases

Reactomei REACT_115893. Membrane binding and targetting of GAG proteins.
REACT_27258. Endosomal Sorting Complex Required For Transport (ESCRT).
REACT_6359. Budding and maturation of HIV virion.

Miscellaneous databases

ChiTaRSi VPS37A. human.
GeneWikii VPS37A.
GenomeRNAii 137492.
NextBioi 83653.
PROi Q8NEZ2.
SOURCEi Search...

Gene expression databases

Bgeei Q8NEZ2.
CleanExi HS_VPS37A.
ExpressionAtlasi Q8NEZ2. baseline and differential.
Genevestigatori Q8NEZ2.

Family and domain databases

Gene3Di 3.10.110.10. 1 hit.
InterProi IPR009851. Mod_r.
IPR016135. UBQ-conjugating_enzyme/RWD.
[Graphical view ]
Pfami PF07200. Mod_r. 1 hit.
[Graphical view ]
SUPFAMi SSF54495. SSF54495. 1 hit.
PROSITEi PS51314. VPS37_C. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "HCRP1, a novel gene that is downregulated in hepatocellular carcinoma, encodes a growth-inhibitory protein."
    Xu Z., Liang L., Wang H., Li T., Zhao M.
    Biochem. Biophys. Res. Commun. 311:1057-1066(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    Tissue: Liver.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Synovium.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Melanoma.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain and Prostate.
  5. "The human endosomal sorting complex required for transport (ESCRT-I) and its role in HIV-1 budding."
    Stuchell M.D., Garrus J.E., Mueller B., Stray K.M., Ghaffarian S., McKinnon R., Kraeusslich H.-G., Morham S.G., Sundquist W.I.
    J. Biol. Chem. 279:36059-36071(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TSG101.
  6. "The growth-regulatory protein HCRP1/hVps37A is a subunit of mammalian ESCRT-I and mediates receptor down-regulation."
    Bache K.G., Slagsvold T., Cabezas A., Rosendal K.R., Raiborg C., Stenmark H.
    Mol. Biol. Cell 15:4337-4346(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH TSG101; VPS28 AND HGS.
  7. "Identification of human MVB12 proteins as ESCRT-I subunits that function in HIV budding."
    Morita E., Sandrin V., Alam S.L., Eckert D.M., Gygi S.P., Sundquist W.I.
    Cell Host Microbe 2:41-53(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TSG101, IDENTIFICATION BY MASS SPECTROMETRY.
  8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-18, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. "UBAP1 is a component of an endosome-specific ESCRT-I complex that is essential for MVB sorting."
    Stefani F., Zhang L., Taylor S., Donovan J., Rollinson S., Doyotte A., Brownhill K., Bennion J., Pickering-Brown S., Woodman P.
    Curr. Biol. 21:1245-1250(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN AN ESCRT-I COMPLEX WITH UBAP1, SUBUNIT.
  12. Cited for: TISSUE SPECIFICITY, VARIANT SPG53 ASN-382, CHARACTERIZATION OF VARIANT SPG53 ASN-382.

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 26, 2014
This is version 102 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

External Data

Dasty 3