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Aliases for VPS36 Gene

Aliases for VPS36 Gene

  • Vacuolar Protein Sorting 36 Homolog 2 3 5
  • ELL-Associated Protein Of 45 KDa 3 4
  • ESCRT-II Complex Subunit VPS36 3 4
  • C13orf9 3 4
  • EAP45 3 4
  • Vacuolar Protein Sorting 36 Homolog (S. Cerevisiae) 2
  • Vacuolar Protein-Sorting-Associated Protein 36 3
  • Vacuolar Protein Sorting 36 Homolog (Yeast) 2
  • Chromosome 13 Open Reading Frame 9 2
  • CGI-145 3

External Ids for VPS36 Gene

Previous HGNC Symbols for VPS36 Gene

  • C13orf9

Previous GeneCards Identifiers for VPS36 Gene

  • GC13M051885
  • GC13M052986
  • GC13M033725

Summaries for VPS36 Gene

Entrez Gene Summary for VPS36 Gene

  • This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A similar protein complex in rat is associated with RNA polymerase elongation factor II. [provided by RefSeq, Aug 2013]

GeneCards Summary for VPS36 Gene

VPS36 (Vacuolar Protein Sorting 36 Homolog) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Endocytosis. GO annotations related to this gene include protein C-terminus binding and phosphatidylinositol-3-phosphate binding.

UniProtKB/Swiss-Prot for VPS36 Gene

  • Component of the ESCRT-II complex (endosomal sorting complex required for transport II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. Its ability to bind ubiquitin probably plays a role in endosomal sorting of ubiquitinated cargo proteins by ESCRT complexes. The ESCRT-II complex may also play a role in transcription regulation, possibly via its interaction with ELL. Binds phosphoinosides such as PtdIns(3,4,5)P3.

Gene Wiki entry for VPS36 Gene

Additional gene information for VPS36 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VPS36 Gene

Genomics for VPS36 Gene

Regulatory Elements for VPS36 Gene

Enhancers for VPS36 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13H052448 1.3 ENCODE dbSUPER 26 +0.9 885 3 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF207 ZNF143 SP5 MXD4 NFYC CKAP2 VPS36 TPTE2P2 HNRNPA1L2 THSD1 INTS6-AS1
GH13H052427 0.7 ENCODE 32.7 +22.1 22110 2 SOX5 SOX13 FOXA2 SAP130 TEAD1 SOX6 JUN TEAD3 CTBP1 GATA3 VPS36 TPTE2P2 THSD1 CKAP2 UTP14C ALG11 NEK5
GH13H051957 1.1 ENCODE dbSUPER 12.4 +491.4 491404 3 CTCF TBL1XR1 TAL1 MAX BACH1 BMI1 TCF12 GATA2 EGR1 ADNP NEK3 VPS36 ATP7B TPTE2P2 FABP5P2 ENSG00000279677
GH13H052413 0.4 ENCODE 32.2 +35.5 35452 2 ZNF133 VPS36 TPTE2P2 THSD1
GH13H052186 1.1 ENCODE dbSUPER 10.5 +262.6 262642 2 HDAC1 PKNOX1 ARID4B BMI1 TCF12 ZNF766 GATA2 ATF7 CREM USF2 NEK3 NEK5 CCDC70 ALG11 VPS36 ATP7B DHRS12 ENSG00000231856 ENSG00000244471 MRPS31P5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around VPS36 on UCSC Golden Path with GeneCards custom track

Promoters for VPS36 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000063131 578 1801 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF207 ZNF143 SP5 MXD4 REST

Genomic Location for VPS36 Gene

Chromosome:
13
Start:
52,412,602 bp from pter
End:
52,450,678 bp from pter
Size:
38,077 bases
Orientation:
Minus strand

Genomic View for VPS36 Gene

Genes around VPS36 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VPS36 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VPS36 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VPS36 Gene

Proteins for VPS36 Gene

  • Protein details for VPS36 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86VN1-VPS36_HUMAN
    Recommended name:
    Vacuolar protein-sorting-associated protein 36
    Protein Accession:
    Q86VN1
    Secondary Accessions:
    • A8K125
    • Q3ZCV7
    • Q5H9S1
    • Q5VXB6
    • Q9H8Z5
    • Q9Y3E3

    Protein attributes for VPS36 Gene

    Size:
    386 amino acids
    Molecular mass:
    43817 Da
    Quaternary structure:
    • Component of a complex at least composed of ELL, SNF8/EAP30, VPS25/EAP20 and VPS36/EAP45 (By similarity). Component of the endosomal sorting complex required for transport II (ESCRT-II), composed of SNF8, VPS36 and two copies of VPS25 (PubMed:14519844). Interacts with VPS25, SNF8, TSG101 and CHMP6 (PubMed:14505570, PubMed:14519844, PubMed:16973552, PubMed:18539118). Interacts (via GLUE domain) with ubiquitin (PubMed:17057716). Interacts with RILPL1 (via the C-terminal domain); which recruits ESCRT-II to the endosome membranes (PubMed:17010938). Interacts with ECM29 (PubMed:20682791).
    SequenceCaution:
    • Sequence=BAB14451.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for VPS36 Gene

    Alternative splice isoforms for VPS36 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VPS36 Gene

Post-translational modifications for VPS36 Gene

  • Ubiquitination at posLast=102102, Lys107, Lys218, and Lys298
  • Modification sites at PhosphoSitePlus

Other Protein References for VPS36 Gene

No data available for DME Specific Peptides for VPS36 Gene

Domains & Families for VPS36 Gene

Gene Families for VPS36 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for VPS36 Gene

Suggested Antigen Peptide Sequences for VPS36 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86VN1

UniProtKB/Swiss-Prot:

VPS36_HUMAN :
  • The GLUE domain (GRAM-like ubiquitin-binding in EAP45) mediates binding to ubiquitin and phosphoinosides.
  • Belongs to the VPS36 family.
Domain:
  • The GLUE domain (GRAM-like ubiquitin-binding in EAP45) mediates binding to ubiquitin and phosphoinosides.
Family:
  • Belongs to the VPS36 family.
genes like me logo Genes that share domains with VPS36: view

Function for VPS36 Gene

Molecular function for VPS36 Gene

UniProtKB/Swiss-Prot Function:
Component of the ESCRT-II complex (endosomal sorting complex required for transport II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. Its ability to bind ubiquitin probably plays a role in endosomal sorting of ubiquitinated cargo proteins by ESCRT complexes. The ESCRT-II complex may also play a role in transcription regulation, possibly via its interaction with ELL. Binds phosphoinosides such as PtdIns(3,4,5)P3.

Phenotypes From GWAS Catalog for VPS36 Gene

Gene Ontology (GO) - Molecular Function for VPS36 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14505570
GO:0008022 protein C-terminus binding IPI 16973552
GO:0008289 lipid binding IEA --
GO:0032266 phosphatidylinositol-3-phosphate binding IEA --
GO:0043130 ubiquitin binding IMP 16973552
genes like me logo Genes that share ontologies with VPS36: view
genes like me logo Genes that share phenotypes with VPS36: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for VPS36
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for VPS36 Gene

Localization for VPS36 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VPS36 Gene

Cytoplasm. Endosome. Late endosome. Membrane. Nucleus. Note=Colocalizes with ubiquitinated proteins on late endosomes. Recruited to the endosome membrane to participate in vesicle formation. {ECO:0000250 UniProtKB:Q91XD6}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for VPS36 gene
Compartment Confidence
extracellular 5
cytosol 5
endosome 5
nucleus 4
lysosome 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Lysosomes (3)
  • Plasma membrane (3)
  • Vesicles (3)
  • Cell Junctions (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for VPS36 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000814 ESCRT II complex TAS 20588296
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome IEA --
GO:0005768 endosome IDA,IEA 20682791
genes like me logo Genes that share ontologies with VPS36: view

Pathways & Interactions for VPS36 Gene

genes like me logo Genes that share pathways with VPS36: view

Pathways by source for VPS36 Gene

Gene Ontology (GO) - Biological Process for VPS36 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0016197 endosomal transport TAS --
genes like me logo Genes that share ontologies with VPS36: view

No data available for SIGNOR curated interactions for VPS36 Gene

Drugs & Compounds for VPS36 Gene

No Compound Related Data Available

Transcripts for VPS36 Gene

Unigene Clusters for VPS36 Gene

Vacuolar protein sorting 36 homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for VPS36
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for VPS36 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16
SP1: - - - -
SP2: - - -
SP3: -
SP4: -
SP5: - - - -

Relevant External Links for VPS36 Gene

GeneLoc Exon Structure for
VPS36
ECgene alternative splicing isoforms for
VPS36

Expression for VPS36 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for VPS36 Gene

Protein differential expression in normal tissues from HIPED for VPS36 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.2), Skin (7.6), and Salivary gland (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for VPS36 Gene



Protein tissue co-expression partners for VPS36 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of VPS36 Gene:

VPS36

SOURCE GeneReport for Unigene cluster for VPS36 Gene:

Hs.109520

Evidence on tissue expression from TISSUES for VPS36 Gene

  • Nervous system(4.6)
  • Eye(4.2)
genes like me logo Genes that share expression patterns with VPS36: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for VPS36 Gene

Orthologs for VPS36 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for VPS36 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VPS36 33 34
  • 99.91 (n)
dog
(Canis familiaris)
Mammalia VPS36 33 34
  • 93.87 (n)
cow
(Bos Taurus)
Mammalia VPS36 33 34
  • 92.4 (n)
oppossum
(Monodelphis domestica)
Mammalia VPS36 34
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 91 (a)
OneToMany
-- 34
  • 75 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Vps36 33 16 34
  • 90.33 (n)
rat
(Rattus norvegicus)
Mammalia Vps36 33
  • 90.24 (n)
chicken
(Gallus gallus)
Aves VPS36 33 34
  • 80.57 (n)
lizard
(Anolis carolinensis)
Reptilia VPS36 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vps36 33
  • 76.68 (n)
Str.13768 33
zebrafish
(Danio rerio)
Actinopterygii vps36 33 34
  • 73.91 (n)
wufj33d07 33
fruit fly
(Drosophila melanogaster)
Insecta Vps36 33 34
  • 54.3 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004755 33
  • 51.68 (n)
worm
(Caenorhabditis elegans)
Secernentea vps-36 33 34
  • 51.32 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B02541g 33
  • 40.73 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER092W 33
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS36 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU06595 33
  • 46.41 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vps36 33
  • 40.43 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4113 33
Species where no ortholog for VPS36 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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)
  • wheat (Triticum aestivum)

Evolution for VPS36 Gene

ENSEMBL:
Gene Tree for VPS36 (if available)
TreeFam:
Gene Tree for VPS36 (if available)

Paralogs for VPS36 Gene

No data available for Paralogs for VPS36 Gene

Variants for VPS36 Gene

Sequence variations from dbSNP and Humsavar for VPS36 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1000149607 -- 52,414,887(+) CTTAC(C/T)GAAGT utr-variant-3-prime
rs1000185911 -- 52,446,289(+) ACATA(A/G)TGCTG intron-variant
rs1000350495 -- 52,440,155(+) TGTAT(G/T)TTTAG intron-variant
rs1000403194 -- 52,440,310(+) TTTTT(A/T)GAGAC intron-variant
rs1000508729 -- 52,418,930(+) CCAAA(C/T)ACCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for VPS36 Gene

Variant ID Type Subtype PubMed ID
esv3550469 CNV deletion 23714750
nsv1110855 OTHER inversion 24896259
nsv1118265 CNV deletion 24896259
nsv428288 CNV loss 18775914
nsv474123 CNV novel sequence insertion 20440878
nsv7242 OTHER inversion 18451855

Variation tolerance for VPS36 Gene

Residual Variation Intolerance Score: 18.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.93; 19.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VPS36 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
VPS36

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VPS36 Gene

Disorders for VPS36 Gene

Relevant External Links for VPS36

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VPS36

No disorders were found for VPS36 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for VPS36 Gene

Publications for VPS36 Gene

  1. A protein interaction network for Ecm29 links the 26 S proteasome to molecular motors and endosomal components. (PMID: 20682791) Gorbea C … Rechsteiner M (The Journal of biological chemistry 2010) 3 4 60
  2. Integrated structural model and membrane targeting mechanism of the human ESCRT-II complex. (PMID: 18539118) Im YJ … Hurley JH (Developmental cell 2008) 3 4 60
  3. Structural basis for ubiquitin recognition by the human ESCRT-II EAP45 GLUE domain. (PMID: 17057716) Alam SL … Sundquist WI (Nature structural & molecular biology 2006) 3 4 60
  4. RILP interacts with VPS22 and VPS36 of ESCRT-II and regulates their membrane recruitment. (PMID: 17010938) Wang T … Hong W (Biochemical and biophysical research communications 2006) 3 4 60
  5. Human ESCRT-II complex and its role in human immunodeficiency virus type 1 release. (PMID: 16973552) Langelier C … Sundquist WI (Journal of virology 2006) 3 4 60

Products for VPS36 Gene

Sources for VPS36 Gene

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