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

    Gene ID: 91782, updated on 17-Jun-2019

    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
    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
    Expression
    Ubiquitous expression in lymph node (RPKM 21.0), appendix (RPKM 14.0) and 25 other tissues See more
    Orthologs

    Genomic context

    See CHMP7 in Genome Data Viewer
    Location:
    8p21.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (23243637..23262000)
    105 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 TNFRSF10A 5' regulatory region Neighboring gene uncharacterized LOC389641 Neighboring gene uncharacterized LOC105379326 Neighboring gene R3H domain and coiled-coil containing 1

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder.
    NHGRI GWA 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 BioSystems

    • Budding and maturation of HIV virion, organism-specific biosystem (from REACTOME)
      Budding and maturation of HIV virion, organism-specific biosystemWith the virus components precariously assembled on the inner leaflet of the plasma membrane, the host cell machinery is required for viral budding. The virus takes advantage of the host ESCRT pathwa...
    • Cellular responses to stress, organism-specific biosystem (from REACTOME)
      Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • ESCRT-III complex, organism-specific biosystem (from KEGG)
      ESCRT-III complex, organism-specific biosystemStructural complex; Genetic information processing; Protein processing
    • ESCRT-III complex, conserved biosystem (from KEGG)
      ESCRT-III 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...
    • HIV Infection, organism-specific biosystem (from REACTOME)
      HIV Infection, organism-specific biosystemThe global pandemic of Human Immunodeficiency Virus (HIV) infection has resulted in tens of millions of people infected by the virus and millions more affected. UNAIDS estimates around 40 million ...
    • HIV Life Cycle, organism-specific biosystem (from REACTOME)
      HIV Life Cycle, organism-specific biosystemThe life cycle of HIV-1 is divided into early and late phases, shown schematically in the figure. In the early phase, an HIV-1 virion binds to receptors and co-receptors on the human host cell surfac...
    • Infectious disease, organism-specific biosystem (from REACTOME)
      Infectious disease, organism-specific biosystem
      Infectious disease
    • Late Phase of HIV Life Cycle, organism-specific biosystem (from REACTOME)
      Late Phase of HIV Life Cycle, organism-specific biosystemThe late phase of the HIV-1 life cycle includes the regulated expression of the HIV gene products and the assembly of viral particles. The assembly of viral particles will be covered in a later relea...
    • Macroautophagy, organism-specific biosystem (from REACTOME)
      Macroautophagy, organism-specific biosystemMacroautophagy (hereafter referred to as autophagy) acts as a buffer against starvation by liberating building materials and energy sources from cellular components. It has additional roles in embryo...
    • 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

    Homology

    Clone Names

    • MGC29816

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    ESCRT III complex disassembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    endosomal transport TAS
    Traceable Author Statement
    more info
     
    exit from mitosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    late endosome to vacuole transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    midbody abscission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitotic metaphase plate congression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    multivesicular body assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    nuclear envelope reassembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nuclear envelope reassembly TAS
    Traceable Author Statement
    more info
    PubMed 
    nucleus organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein localization to chromatin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    viral budding via host ESCRT complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    viral life cycle TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    ESCRT III complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ESCRT III complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    colocalizes_with chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
     

    General protein information

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

    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_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
      B3KMN6, 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
      Q8WUX9
      UniProtKB/TrEMBL
      B3KUH0
      Related
      ENSP00000380794.1, ENST00000397677.6
      Conserved Domains (1) summary
      cl21588
      Location:243402
      Snf7; Snf7

    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.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      23243637..23262000
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013964.1XP_016869453.1  charged multivesicular body protein 7 isoform X4

      UniProtKB/TrEMBL
      B3KRZ9
      Conserved Domains (1) summary
      cl21588
      Location:133292
      Snf7; Snf7
    2. XM_017013962.1XP_016869451.1  charged multivesicular body protein 7 isoform X3

      Conserved Domains (1) summary
      cl21588
      Location:133292
      Snf7; Snf7
    3. XM_024447327.1XP_024303095.1  charged multivesicular body protein 7 isoform X3

      Conserved Domains (1) summary
      cl21588
      Location:133292
      Snf7; Snf7
    4. XM_024447328.1XP_024303096.1  charged multivesicular body protein 7 isoform X4

      Conserved Domains (1) summary
      cl21588
      Location:133292
      Snf7; Snf7
    5. XM_024447329.1XP_024303097.1  charged multivesicular body protein 7 isoform X5

      Conserved Domains (1) summary
      cl21588
      Location:133243
      Snf7; Snf7
    6. XM_017013961.2XP_016869450.1  charged multivesicular body protein 7 isoform X1

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