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

Gene ID: 91782, updated on 4-Oct-2020

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
109.20200815 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder.
GeneReviews: Not available

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

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 
late endosome to vacuole transport via multivesicular body sorting pathway IBA
Inferred from Biological aspect of Ancestor
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
 
vesicle budding from membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
multivesicular body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm 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 Updated Annotation Release 109.20200815

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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