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Aliases for VPS4A Gene

Aliases for VPS4A Gene

  • Vacuolar Protein Sorting 4 Homolog A 2 3
  • Vacuolar Protein Sorting 4 Homolog A (S. Cerevisiae) 2 5
  • VPS4-1 3 4
  • HVPS4 3 4
  • VPS4 3 4
  • Vacuolar Protein Sorting 4A (Yeast Homolog) 2
  • Vacuolar Protein Sorting 4A (Yeast) 2
  • Vacuolar Protein Sorting Factor 4A 3
  • Vacuolar Sorting Protein 4 3
  • SKD1-Homolog 3
  • Protein SKD2 4
  • EC 3.6.4.6 4
  • SKD1A 3
  • SKD2 3
  • SKD1 3

External Ids for VPS4A Gene

Previous GeneCards Identifiers for VPS4A Gene

  • GC16P060030
  • GC16P069723
  • GC16P069080
  • GC16P069121
  • GC16P067902
  • GC16P069345
  • GC16P055223
  • GC16P069335

Summaries for VPS4A Gene

Entrez Gene Summary for VPS4A Gene

  • The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. The mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be really an yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 16; the gene for the other resides on chromosome 18. [provided by RefSeq, Jul 2008]

GeneCards Summary for VPS4A Gene

VPS4A (Vacuolar Protein Sorting 4 Homolog A) is a Protein Coding gene. Diseases associated with VPS4A include hepatitis e and danon disease. Among its related pathways are Endocytosis and Budding and maturation of HIV virion. GO annotations related to this gene include ATPase activity and protein C-terminus binding. An important paralog of this gene is KATNA1.

UniProtKB/Swiss-Prot for VPS4A Gene

  • Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. In conjunction with the ESCRT machinery also appears to function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses). Involved in cytokinesis: retained at the midbody by ZFYVE19/ANCHR and CHMP4C until abscission checkpoint signaling is terminated at late cytokinesis. It is then released following dephosphorylation of CHMP4C, leading to abscission (PubMed:24814515). VPS4A/B are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).

Gene Wiki entry for VPS4A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VPS4A Gene

Genomics for VPS4A Gene

Regulatory Elements for VPS4A Gene

Enhancers for VPS4A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around VPS4A on UCSC Golden Path with GeneCards custom track

Promoters for VPS4A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around VPS4A on UCSC Golden Path with GeneCards custom track

Genomic Location for VPS4A Gene

Chromosome:
16
Start:
69,311,356 bp from pter
End:
69,326,939 bp from pter
Size:
15,584 bases
Orientation:
Plus strand

Genomic View for VPS4A Gene

Genes around VPS4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VPS4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VPS4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VPS4A Gene

Proteins for VPS4A Gene

  • Protein details for VPS4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UN37-VPS4A_HUMAN
    Recommended name:
    Vacuolar protein sorting-associated protein 4A
    Protein Accession:
    Q9UN37
    Secondary Accessions:
    • B2RCB7
    • Q8TF07
    • Q9UI03
    • Q9Y582

    Protein attributes for VPS4A Gene

    Size:
    437 amino acids
    Molecular mass:
    48898 Da
    Quaternary structure:
    • Proposed to be monomeric or homodimeric in nucleotide-free form and to oligomerize upon binding to ATP to form two stacked hexameric or heptameric rings with a central pore through which ESCRT-III substrates are translocated in an ATP-dependent manner (By similarity). Interacts with CHMP1A, CHMP1B, CHMP2A, CHMP2B, CHMP3, CHMP4A, CHMP4B, CHMP4C and CHMP6. Interacts with VPS4B; the interaction suggests a heteromeric assembly with VPS4B. Interacts with SPAST. Interacts with IST1. Interacts with ZFYVE19/ANCHR; leading to retain it at midbody.
    SequenceCaution:
    • Sequence=AAL75948.1; Type=Frameshift; Positions=123, 133, 157, 163; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for VPS4A Gene

neXtProt entry for VPS4A Gene

Proteomics data for VPS4A Gene at MOPED

Post-translational modifications for VPS4A Gene

  • Ubiquitination at Lys 210
  • Modification sites at PhosphoSitePlus

Other Protein References for VPS4A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for VPS4A Gene

Domains & Families for VPS4A Gene

Gene Families for VPS4A Gene

Protein Domains for VPS4A Gene

Suggested Antigen Peptide Sequences for VPS4A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UN37

UniProtKB/Swiss-Prot:

VPS4A_HUMAN :
  • The MIT domain serves as an adapter for ESCRT-III proteins. It forms an asymmetric three-helix bundle that binds amphipathic MIM (MIT interacting motif) helices along the groove between MIT helices 2 and 3 present in a subset of ESCRT-III proteins thus establishing the canonical MIM-MIT interaction. In an extended conformation along the groove between helices 1 and 3, also binds to a type-2 MIT interacting motif (MIM2).
  • Belongs to the AAA ATPase family.
Domain:
  • The MIT domain serves as an adapter for ESCRT-III proteins. It forms an asymmetric three-helix bundle that binds amphipathic MIM (MIT interacting motif) helices along the groove between MIT helices 2 and 3 present in a subset of ESCRT-III proteins thus establishing the canonical MIM-MIT interaction. In an extended conformation along the groove between helices 1 and 3, also binds to a type-2 MIT interacting motif (MIM2).
  • Contains 1 MIT domain.
Family:
  • Belongs to the AAA ATPase family.
genes like me logo Genes that share domains with VPS4A: view

Function for VPS4A Gene

Molecular function for VPS4A Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. In conjunction with the ESCRT machinery also appears to function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses). Involved in cytokinesis: retained at the midbody by ZFYVE19/ANCHR and CHMP4C until abscission checkpoint signaling is terminated at late cytokinesis. It is then released following dephosphorylation of CHMP4C, leading to abscission (PubMed:24814515). VPS4A/B are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).

Enzyme Numbers (IUBMB) for VPS4A Gene

genes like me logo Genes that share phenotypes with VPS4A: view

Animal Models for VPS4A Gene

MGI Knock Outs for VPS4A:

Animal Model Products

  • Taconic Biosciences Mouse Models for VPS4A

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for VPS4A Gene

Localization for VPS4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for VPS4A Gene

Prevacuolar compartment membrane; Peripheral membrane protein. Late endosome membrane; Peripheral membrane protein. Midbody. Note=Membrane-associated in the prevacuolar endosomal compartment. Localizes to the midbody of dividing cells, interaction with ZFYVE19/ANCHR mediates retention at midbody (PubMed:24814515). Localized in two distinct rings on either side of the Fleming body. {ECO:0000269 PubMed:24814515}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VPS4A Gene COMPARTMENTS Subcellular localization image for VPS4A gene
Compartment Confidence
cytoskeleton 5
cytosol 5
endosome 5
extracellular 5
lysosome 5
nucleus 5
plasma membrane 5
vacuole 5

Gene Ontology (GO) - Cellular Components for VPS4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 20616062
GO:0005769 early endosome IDA 10637304
GO:0031902 late endosome membrane IEA --
GO:0048471 perinuclear region of cytoplasm IDA 11563910
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with VPS4A: view

Pathways & Interactions for VPS4A Gene

genes like me logo Genes that share pathways with VPS4A: view

Pathways by source for VPS4A Gene

Gene Ontology (GO) - Biological Process for VPS4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006900 membrane budding IMP 15075231
GO:0006914 autophagy NAS 20588296
GO:0006997 nucleus organization IMP 20616062
GO:0007033 vacuole organization IBA --
GO:0007080 mitotic metaphase plate congression IMP 20616062
genes like me logo Genes that share ontologies with VPS4A: view

No data available for SIGNOR curated interactions for VPS4A Gene

Drugs & Compounds for VPS4A Gene

(2) Drugs for VPS4A Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(3) Additional Compounds for VPS4A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with VPS4A: view

Transcripts for VPS4A Gene

Unigene Clusters for VPS4A Gene

Vacuolar protein sorting 4 homolog A (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for VPS4A Gene

No ASD Table

Relevant External Links for VPS4A Gene

GeneLoc Exon Structure for
VPS4A
ECgene alternative splicing isoforms for
VPS4A

Expression for VPS4A Gene

mRNA expression in normal human tissues for VPS4A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for VPS4A Gene

This gene is overexpressed in Cerebrospinal fluid (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for VPS4A Gene



SOURCE GeneReport for Unigene cluster for VPS4A Gene Hs.128420

mRNA Expression by UniProt/SwissProt for VPS4A Gene

Q9UN37-VPS4A_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with VPS4A: view

Protein tissue co-expression partners for VPS4A Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for VPS4A Gene

Orthologs for VPS4A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for VPS4A Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia VPS4A 35
  • 92.14 (n)
  • 98.86 (a)
-- 36
  • 98 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Vps4a 35
  • 89.09 (n)
  • 99.08 (a)
Vps4a 16
Vps4a 36
  • 99 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia VPS4A 35
  • 99.46 (n)
  • 99.77 (a)
VPS4A 36
  • 100 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Vps4a 35
  • 88.94 (n)
  • 99.08 (a)
cow
(Bos Taurus)
Mammalia VPS4A 36
  • 97 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 91 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 91 (a)
OneToMany
chicken
(Gallus gallus)
Aves VPS4A 35
  • 83.57 (n)
  • 91.4 (a)
-- 36
  • 90 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 92 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia vps4a 35
  • 77.78 (n)
  • 92.41 (a)
zebrafish
(Danio rerio)
Actinopterygii vps4a 35
  • 80.23 (n)
  • 90.07 (a)
vps4a 36
  • 80 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH02678 37
  • 72 (a)
BG:DS06874.3 37
  • 40 (a)
CG10793 37
  • 37 (a)
Vps4 35
  • 71.32 (n)
  • 76.74 (a)
Vps4 36
  • 74 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000625 35
  • 70.06 (n)
  • 77.55 (a)
worm
(Caenorhabditis elegans)
Secernentea K04D7.2a 37
  • 38 (a)
K04D7.2b 37
  • 38 (a)
Y34D9A.10 37
  • 57 (a)
vps-4 36
  • 68 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS4 36
  • 59 (a)
OneToMany
barley
(Hordeum vulgare)
Liliopsida Hv.6235 35
wheat
(Triticum aestivum)
Liliopsida Ta.1709 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10007 36
  • 70 (a)
OneToMany
Species with no ortholog for VPS4A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for VPS4A Gene

ENSEMBL:
Gene Tree for VPS4A (if available)
TreeFam:
Gene Tree for VPS4A (if available)

Paralogs for VPS4A Gene

Paralogs for VPS4A Gene

(7) SIMAP similar genes for VPS4A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with VPS4A: view

Variants for VPS4A Gene

Sequence variations from dbSNP and Humsavar for VPS4A Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs4071564 -- 69,317,248(+) GACAG(-/CAG)TGGCT intron-variant
rs153050 -- 69,315,835(-) CAAAG(A/G)AGGCT intron-variant
rs8062192 -- 69,322,439(+) AGCCC(A/G)TCCTC intron-variant
rs13332309 -- 69,317,756(+) ccact(A/G)cactc intron-variant
rs9923260 -- 69,323,778(+) AACCC(C/T)GTCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for VPS4A Gene

Variant ID Type Subtype PubMed ID
nsv906820 CNV Loss 21882294
nsv827715 CNV Loss 20364138
nsv523736 CNV Loss 19592680

Variation tolerance for VPS4A Gene

Residual Variation Intolerance Score: 25.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VPS4A Gene

HapMap Linkage Disequilibrium report
VPS4A
Human Gene Mutation Database (HGMD)
VPS4A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VPS4A Gene

Disorders for VPS4A Gene

MalaCards: The human disease database

(2) MalaCards diseases for VPS4A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hepatitis e
danon disease
  • antopol disease
- elite association - COSMIC cancer census association via MalaCards
Search VPS4A in MalaCards View complete list of genes associated with diseases

Relevant External Links for VPS4A

Genetic Association Database (GAD)
VPS4A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VPS4A
genes like me logo Genes that share disorders with VPS4A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for VPS4A Gene

Publications for VPS4A Gene

  1. Mammalian cells express two VPS4 proteins both of which are involved in intracellular protein trafficking. (PMID: 11563910) Scheuring S. … Koehrer K. (J. Mol. Biol. 2001) 2 3 4 23 67
  2. ATPase-defective mammalian VPS4 localizes to aberrant endosomes and impairs cholesterol trafficking. (PMID: 10637304) Bishop N. … Woodman P. (Mol. Biol. Cell 2000) 2 3 23
  3. Biochemical analyses of human IST1 and its function in cytokinesis. (PMID: 19129479) Bajorek M. … Sundquist W.I. (Mol. Biol. Cell 2009) 3 23
  4. Essential role of hIST1 in cytokinesis. (PMID: 19129480) Agromayor M. … Martin-Serrano J. (Mol. Biol. Cell 2009) 3 23
  5. Human cytomegalovirus exploits ESCRT machinery in the process of virion maturation. (PMID: 19640981) Tandon R. … Mocarski E.S. (J. Virol. 2009) 3 23

Products for VPS4A Gene

Sources for VPS4A Gene

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