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    CHMP7 charged multivesicular body protein 7 [ Homo sapiens (human) ]

    Gene ID: 91782, updated on 27-Nov-2024

    Summary

    Official Symbol
    CHMP7provided by HGNC
    Official Full Name
    charged multivesicular body protein 7provided by HGNC
    Primary source
    HGNC:HGNC:28439
    See related
    Ensembl:ENSG00000147457 MIM:611130; AllianceGenome:HGNC:28439
    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
    Summary
    Involved in several processes, including midbody abscission; mitotic nuclear division; and vacuolar transport. Located in chromatin; cytosol; and nucleus. Part of several cellular components, including bounding membrane of organelle; kinetochore microtubule; and midbody. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 21.0), appendix (RPKM 14.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CHMP7 in Genome Data Viewer
    Location:
    8p21.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (23243637..23261999)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (23518494..23536870)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (23101150..23119512)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene TNF receptor superfamily member 10a Neighboring gene ribosomal protein L23a pseudogene 55 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27110 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27111 Neighboring gene TNFRSF10A 5' regulatory region Neighboring gene TNFRSF10A divergent transcript Neighboring gene NANOG hESC enhancer GRCh37_chr8:23100842-23101343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27113 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27114 Neighboring gene MPRA-validated peak6945 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:23129689-23130226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23159094-23159594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23159595-23160095 Neighboring gene R3H domain and coiled-coil containing 1 Neighboring gene lysyl oxidase like 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:23177410-23177975 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23182003-23182503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23195830-23196330 Neighboring gene LOXL2 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:23209911-23210493

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2022-09-27)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2022-09-27)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Genome-wide shRNA screening identifies CHMP7, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells 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

    Clone Names

    • MGC29816

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 exit from mitosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in late endosome to lysosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in late endosome to vacuole 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-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 nuclear membrane reassembly TAS
    Traceable Author Statement
    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 localization to chromatin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of mitotic spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 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 
    involved_in viral budding via host ESCRT complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of ESCRT III complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of ESCRT III complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasmic side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    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 
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of nuclear pore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    charged multivesicular body protein 7
    Names
    CHMP family, member 7
    chromatin-modifying protein 7

    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_001317899.2NP_001304828.1  charged multivesicular body protein 7 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translation start site compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AK021776, AK092500, DA773200
      UniProtKB/TrEMBL
      B3KRZ9
      Conserved Domains (1) summary
      cl21588
      Location:133292
      Snf7; Snf7
    2. NM_001363183.2NP_001350112.1  charged multivesicular body protein 7 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL515436, AL833843, BC042050, DB140277
      Conserved Domains (1) summary
      cl21588
      Location:243353
      Snf7; Snf7
    3. NM_152272.5NP_689485.1  charged multivesicular body protein 7 isoform 1

      See identical proteins and their annotated locations for NP_689485.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK097202, AL833843, BC042050, DB140277
      Consensus CDS
      CCDS6040.1
      UniProtKB/Swiss-Prot
      B2RDT3, B4DKJ6, D3DSS1, Q8NDM1, Q8WUX9, Q9BT50
      UniProtKB/TrEMBL
      B3KUH0
      Related
      ENSP00000380794.1, ENST00000397677.6
      Conserved Domains (1) summary
      cl21588
      Location:243402
      Snf7; 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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      23243637..23261999
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422416.1XP_047278372.1  charged multivesicular body protein 7 isoform X1

    2. XM_047422417.1XP_047278373.1  charged multivesicular body protein 7 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      23518494..23536870
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361498.1XP_054217473.1  charged multivesicular body protein 7 isoform X1

    2. XM_054361499.1XP_054217474.1  charged multivesicular body protein 7 isoform X2