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] See more...

Aliases for VPS36 Gene

Aliases for VPS36 Gene

  • Vacuolar Protein Sorting 36 Homolog 2 3 5
  • Vacuolar Protein-Sorting-Associated Protein 36 3 4
  • 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 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 Endocytosis and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include protein C-terminus binding and phosphatidylinositol-3-phosphate binding.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for VPS36 Gene

Genomics for VPS36 Gene

GeneHancer (GH) Regulatory Elements for VPS36 Gene

Promoters and enhancers for VPS36 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J052448 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 526 +0.9 884 3 EP300 ZBTB40 CTCF ZSCAN5C POLR2G NCOR1 PHF8 ZFX ZNF639 ZIC2 VPS36 lnc-THSD1-3 CKAP2 TPTE2P2 THSD1 lnc-THSD1-2
GH13J052598 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 527.7 -149.5 -149461 2.9 POLR2G ZFX POLR2A CLOCK ZBTB26 SIN3A MYC ZBTB17 TCF7L2 ZNF263 VPS36 ENSG00000273784 LINC00345 LINC00345-001 MRPS31P4 CKAP2 TPTE2P2
GH13J052427 Enhancer 0.8 Ensembl ENCODE 32.7 +22.1 22110 3 TEAD1 CTBP1 FOXA2 SAP130 FOS ZNF189 GATA2 ZBTB33 JUN TEAD3 lnc-THSD1-2 VPS36 TPTE2P2 CKAP2 UTP14C ALG11 NEK5 THSD1
GH13J052413 Enhancer 0.6 Ensembl ENCODE 32.3 +35.8 35819 3.3 FOS ZNF133 POLR2A CEBPB STAT3 THSD1 lnc-THSD1-1 VPS36 TPTE2P2 PPIAP26 piR-58297-133
GH13J052203 Enhancer 0.8 Ensembl ENCODE 20.1 +246.8 246777 3 ZSCAN5C TRIM24 CEBPG CEBPB ZNF335 ZNF318 ATF4 MEIS2 IRF9 ZFP69B VPS36 TPTE2P2 ATP7B MRPS31P5 piR-45291-001 ENSG00000217576
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VPS36 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VPS36

Top Transcription factor binding sites by QIAGEN in the VPS36 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4

Genomic Locations for VPS36 Gene

Genomic Locations for VPS36 Gene
chr13:52,412,602-52,450,678
(GRCh38/hg38)
Size:
38,077 bases
Orientation:
Minus strand
chr13:52,986,737-53,024,763
(GRCh37/hg19)
Size:
38,027 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 ECPAS (PubMed:20682791).
    SequenceCaution:
    • Sequence=BAB14451.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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 Lys102, 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:
  • ESCRT-II complex subunit VPS36 (VPS36_HUMAN)

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VPS36

Clone Products

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
endosome 5
cytosol 5
nucleus 4
lysosome 3
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

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:0015031 protein transport IEA --
GO:0016197 endosomal transport TAS --
GO:0016236 macroautophagy TAS 20588296
GO:0032509 endosome transport via multivesicular body sorting pathway IEA --
GO:0036258 multivesicular body assembly TAS 20588296
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

mRNA/cDNA for VPS36 Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VPS36

Clone Products

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

Expression for VPS36 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for VPS36 Gene



Protein tissue co-expression partners for VPS36 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.91 (n)
OneToOne
dog
(Canis familiaris)
Mammalia VPS36 31 30
  • 93.87 (n)
OneToOne
cow
(Bos Taurus)
Mammalia VPS36 31 30
  • 92.4 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia VPS36 31
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 91 (a)
OneToMany
-- 31
  • 75 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Vps36 17 31 30
  • 90.33 (n)
rat
(Rattus norvegicus)
Mammalia Vps36 30
  • 90.24 (n)
chicken
(Gallus gallus)
Aves VPS36 31 30
  • 80.57 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VPS36 31
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vps36 30
  • 76.68 (n)
Str.13768 30
zebrafish
(Danio rerio)
Actinopterygii vps36 31 30
  • 73.91 (n)
OneToOne
wufj33d07 30
fruit fly
(Drosophila melanogaster)
Insecta Vps36 31 30
  • 54.3 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004755 30
  • 51.68 (n)
worm
(Caenorhabditis elegans)
Secernentea vps-36 31 30
  • 51.32 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B02541g 30
  • 40.73 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER092W 30
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS36 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 53 (a)
OneToOne
Cin.4113 30
bread mold
(Neurospora crassa)
Ascomycetes NCU06595 30
  • 46.41 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vps36 30
  • 40.43 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4113 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for VPS36: view image

Paralogs for VPS36 Gene

No data available for Paralogs for VPS36 Gene

Variants for VPS36 Gene

Additional dbSNP identifiers (rs#s) for VPS36 Gene

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)

Additional Variant Information for VPS36 Gene

Human Gene Mutation Database (HGMD)
VPS36
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VPS36

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VPS36 Gene

Disorders for VPS36 Gene

Additional Disease Information for 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 54
  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 54
  3. 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 54
  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 54
  5. 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 54

Products for VPS36 Gene

Sources for VPS36 Gene