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    CHMP5 charged multivesicular body protein 5 [ Homo sapiens (human) ]

    Gene ID: 51510, updated on 9-Dec-2024

    Summary

    Official Symbol
    CHMP5provided by HGNC
    Official Full Name
    charged multivesicular body protein 5provided by HGNC
    Primary source
    HGNC:HGNC:26942
    See related
    Ensembl:ENSG00000086065 MIM:610900; AllianceGenome:HGNC:26942
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Spike; Vps60; CGI-34; PNAS-2; C9orf83; HSPC177; SNF7DC2
    Summary
    CHMP5 belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in colon (RPKM 33.4), thyroid (RPKM 32.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CHMP5 in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (33265049..33282070)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (33283696..33300716)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (33265047..33282068)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28288 Neighboring gene serine peptidase inhibitor Kazal type 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19833 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28291 Neighboring gene BAG cochaperone 1 Neighboring gene nucleus accumbens associated 1, BEN and BTB (POZ) domain containing pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:33288443-33289404 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28292 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:33290559-33291758 Neighboring gene nuclear transcription factor, X-box binding 1 Neighboring gene MPRA-validated peak7217 silencer Neighboring gene uncharacterized LOC105376018

    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

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of charged multivesicular body protein 5 (CHMP5) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cadherin binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ESCRT III complex disassembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in autophagosome maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to lipopolysaccharide IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to muramyl dipeptide IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in late endosome to lysosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in late endosome to vacuole transport via multivesicular body sorting pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in membrane fission NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in midbody abscission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitotic metaphase chromosome alignment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in multivesicular body assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in multivesicular body sorting pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in multivesicular body sorting pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in multivesicular body-lysosome fusion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in nuclear membrane reassembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nucleus organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in plasma membrane repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of centrosome duplication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of mitotic spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of receptor recycling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in vesicle budding from membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in vesicle fusion with vacuole NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in viral budding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in viral budding from plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in viral budding via host ESCRT complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of ESCRT III complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in amphisome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in autophagosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in kinetochore microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in multivesicular body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in multivesicular body membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of nuclear pore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    charged multivesicular body protein 5
    Names
    SNF7 domain containing 2
    SNF7 domain-containing protein 2
    apoptosis-related protein PNAS-2
    chromatin-modifying protein 5
    hVps60
    small protein with inherent killing effect
    vacuolar protein sorting-associated protein 60

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001195536.2NP_001182465.1  charged multivesicular body protein 5 isoform 2

      See identical proteins and their annotated locations for NP_001182465.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
      Source sequence(s)
      AI128062, AK295744, AL356472
      Consensus CDS
      CCDS56569.1
      UniProtKB/Swiss-Prot
      Q9NZZ3
      Related
      ENSP00000442725.1, ENST00000419016.6
      Conserved Domains (1) summary
      cl21588
      Location:1165
      Snf7; Snf7
    2. NM_016410.6NP_057494.3  charged multivesicular body protein 5 isoform 1

      See identical proteins and their annotated locations for NP_057494.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AI128062, AL356472, BC007457, BC016698
      Consensus CDS
      CCDS6537.1
      UniProtKB/Swiss-Prot
      B2RD95, B4DIR6, Q5VXW2, Q96AV2, Q9HB68, Q9NYS4, Q9NZZ3, Q9Y323
      Related
      ENSP00000223500.7, ENST00000223500.9
      Conserved Domains (1) summary
      cl21588
      Location:1201
      Snf7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      33265049..33282070
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      33283696..33300716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)