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VPS36 vacuolar protein sorting 36 homolog [ Homo sapiens (human) ]

Gene ID: 51028, updated on 7-Dec-2018

Summary

Official Symbol
VPS36provided by HGNC
Official Full Name
vacuolar protein sorting 36 homologprovided by HGNC
Primary source
HGNC:HGNC:20312
See related
Ensembl:ENSG00000136100 MIM:610903
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EAP45; C13orf9; CGI-145
Summary
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]
Expression
Ubiquitous expression in skin (RPKM 25.0), thyroid (RPKM 15.1) and 25 other tissues See more
Orthologs

Genomic context

See VPS36 in Genome Data Viewer
Location:
13q14.3
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (52412602..52450678, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (52986737..53024798, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370207 Neighboring gene thrombospondin type 1 domain containing 1 Neighboring gene RNY4 pseudogene 24 Neighboring gene cytoskeleton associated protein 2 Neighboring gene long intergenic non-protein coding RNA 345 Neighboring gene transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

HIV-1 interactions

Replication interactions

Interaction Pubs
shRNA knockdown of VPS36 (ESCRT-II component) decreases HIV-1 CA-p24 supernatant levels when using wild type (HIV-1 LAI) and VSV-pseudotyped virus; HIV replication is enhanced by VPS36 PubMed
CRISPR/Cas9 knockout of VPS36 (EAP45) reduces intracellular CA (p24) in, and reduces virion-associated CA (p24) release from, pHIV (BH10)-transfected HAP1 cells (Haplogen GmbH, Vienna, Austria); VPS36 enhances HIV-1 replication PubMed

Protein interactions

Protein Gene Interaction Pubs
capsid gag Knockdown of VPS36 (ESCRT-II component) decreases HIV-1 CA-p24 secretion when using wild type (HIV-1 LAI) and VSV-pseudotyped virus PubMed
gag Knockout of VPS36 (EAP45) reduces virion-associated CA (p24) release from HAP1 cells PubMed
gag Knockout of VPS36 (EAP45) reduces intracellular CA (p24) in HAP1 cells PubMed
gag The EAP45 mutant, IERK159-162AAAA, (that substantially reduces ESCRTII-ESCRTI interaction in vitro), impairs the production of extracellular CA-p24 PubMed
gag The EAP45 mutant, IERK159-162AAAA, (substantially reduces ESCRTII-ESCRTI interaction in vitro), impairs the production of intracellular CA-p24 PubMed
gag Overexpression of GLUE (GRAM-like ubiquitin-binding in EAP45) domain in isolation (amino acids 1-139, not sufficient to interact with ESCRT-I) decreases extracellular CA-p24 levels PubMed
gag Overexpression of GLUE (GRAM-like ubiquitin-binding in EAP45) domain in isolation (amino acids 1-139, not sufficient to interact with ESCRT-I) impairs the production of intracellular CA-p24 PubMed
gag Knockdown of VPS36 (ESCRT-II component) impairs HIV-1 CA-p24 production when using wild type (HIV-1 LAI) and VSV-pseudotyped virus PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • ESCRT-II complex, organism-specific biosystem (from KEGG)
    ESCRT-II complex, organism-specific biosystemStructural complex; Genetic information processing; Protein processing
  • ESCRT-II complex, conserved biosystem (from KEGG)
    ESCRT-II complex, conserved biosystemStructural complex; Genetic information processing; Protein processing
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endosomal Sorting Complex Required For Transport (ESCRT), organism-specific biosystem (from REACTOME)
    Endosomal Sorting Complex Required For Transport (ESCRT), organism-specific biosystemMany plasma membrane proteins are in a constant flux throughout the internal trafficking pathways of the cell. Some receptors are continuously internalized into recycling endosomes and returned to th...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: THSD1

Homology

Clone Names

  • DKFZp781E0871

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol-3-phosphate binding IEA
Inferred from Electronic Annotation
more info
 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
ESCRT II complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ESCRT II complex IDA
Inferred from Direct Assay
more info
PubMed 
ESCRT II complex TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
late endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
late endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosome IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
vacuolar protein-sorting-associated protein 36
Names
ELL-associated protein of 45 kDa
ESCRT-II complex subunit VPS36

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001282168.1NP_001269097.1  vacuolar protein-sorting-associated protein 36 isoform 2

    See identical proteins and their annotated locations for NP_001269097.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' terminal exon compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1.
    Source sequence(s)
    AI352102, AL359513, BX647847, CB959894, DA461148
    Conserved Domains (2) summary
    cd13226
    Location:1119
    PH-GRAM-like_Eap45; Pleckstrin homology-like domain or GLUE (GRAM-like ubiquitin-binding in Eap45) domain of Eap45
    pfam04157
    Location:146360
    EAP30; EAP30/Vps36 family
  2. NM_001282169.1NP_001269098.1  vacuolar protein-sorting-associated protein 36 isoform 3

    See identical proteins and their annotated locations for NP_001269098.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' terminal exon, lacks a portion of the 5' coding region and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AI221133, AI352102, AL359513
    Consensus CDS
    CCDS73577.1
    UniProtKB/Swiss-Prot
    Q86VN1
    Related
    ENSP00000484968.1, ENST00000611132.4
    Conserved Domains (2) summary
    pfam04157
    Location:96311
    EAP30; EAP30/Vps36 family
    cl17171
    Location:170
    PH-like; Pleckstrin homology-like domain
  3. NM_016075.4NP_057159.2  vacuolar protein-sorting-associated protein 36 isoform 1

    See identical proteins and their annotated locations for NP_057159.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AI352102, AK289740, BC037279, DA461148
    Consensus CDS
    CCDS9434.1
    UniProtKB/Swiss-Prot
    Q86VN1
    Related
    ENSP00000367299.3, ENST00000378060.8
    Conserved Domains (2) summary
    cd13226
    Location:1128
    PH-GRAM-like_Eap45; Pleckstrin homology-like domain or GLUE (GRAM-like ubiquitin-binding in Eap45) domain of Eap45
    pfam04157
    Location:154369
    EAP30; EAP30/Vps36 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

    Range
    52412602..52450678 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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