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

Gene ID: 91782, updated on 10-Dec-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, Dec 2024]
Expression
Ubiquitous expression in lymph node (RPKM 21.0), appendix (RPKM 14.0) and 25 other tissues See more
Orthologs
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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