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CHMP5 Gene

protein-coding   GIFtS: 59
GCID: GC09P033257

Charged Multivesicular Body Protein 5

(Previous names: chromosome 9 open reading frame 83, chromatin modifying...)
(Previous symbols: C9orf83, SNF7DC2)
  Search for CHMP5
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Charged Multivesicular Body Protein 51 2     hVps602 3
C9orf831 2 3     SNF7 Domain-Containing Protein 22 3
SNF7DC21 2 3     Chromosome 9 Open Reading Frame 831
Chromatin Modifying Protein 51 2     HSPC1772
Chromatin-Modifying Protein 52 3     PNAS-22
Vacuolar Protein Sorting-Associated Protein 602 3     Apoptosis-Related Protein PNAS-22
Vps602 3     SNF7 Domain Containing 22

External Ids:    HGNC: 269421   Entrez Gene: 515102   Ensembl: ENSG000000860657   OMIM: 6109005   UniProtKB: Q9NZZ33   

Export aliases for CHMP5 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CHMP5 Gene:
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)

GeneCards Summary for CHMP5 Gene:
CHMP5 (charged multivesicular body protein 5) is a protein-coding gene.

UniProtKB/Swiss-Prot: CHMP5_HUMAN, Q9NZZ3
Function: Probable peripherally associated component of the endosomal sorting required for transport complex III
(ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins
into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the
limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane
proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to
require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from
the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically
equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped
viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle
extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in HIV-1
p6- and p9-dependent virus release

Gene Wiki entry for CHMP5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008413.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHMP5 gene promoter:
         ER-alpha   GR   LHX3b/Lhx3b   RFX1   Evi-1   POU2F1   POU2F1a   LHX3a/Lhx3a   GR-alpha   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CHMP5 promoter sequence
   Search Chromatin IP Primers for CHMP5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHMP5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p13.3   Ensembl cytogenetic band:  9p13.3   HGNC cytogenetic band: 9p13.3

CHMP5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHMP5 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P033257:  view genomic region     (about GC identifiers)

Start:
33,264,877 bp from pter      End:
33,282,067 bp from pter
Size:
17,191 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CHMP5_HUMAN, Q9NZZ3 (See protein sequence)
Recommended Name: Charged multivesicular body protein 5  
Size: 219 amino acids; 24571 Da
Subunit: Probable peripherally associated component of the endosomal sorting required for transport complex III
(ESCRT-III). ESCRT-III components are thought to multimerize to form a flat lattice on the perimeter membrane of
the endosome. Several assembly forms of ESCRT-III may exist that interact and act sequentally. Interacts with
VTA1. Interacts with CHMP2A. Interacts with VTA1; the interaction involves soluble CHMP5
Sequence caution: Sequence=AAG23821.1; Type=Erroneous initiation;
5 PDB 3D structures from and Proteopedia for CHMP5:
2LXM (3D)        3ULY (3D)        3UM0 (3D)        3UM1 (3D)        3UM2 (3D)    
Secondary accessions: B2RD95 B4DIR6 Q5VXW2 Q96AV2 Q9HB68 Q9NYS4 Q9Y323
Alternative splicing: 2 isoforms:  Q9NZZ3-1   Q9NZZ3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CHMP5: NX_Q9NZZ3

Explore proteomics data for CHMP5 at MOPED

Post-translational modifications: 

  • ISGylated. Isgylation inhibits its interaction with VTA11
  • Ubiquitination2 at Lys44, Lys100
  • Modification sites at PhosphoSitePlus

  • See CHMP5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001182465.1  NP_057494.3  

    ENSEMBL proteins: 
     ENSP00000223500   ENSP00000442725  
    Reactome Protein details: Q9NZZ3

    CHMP5 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for CHMP5

     
    Search eBioscience for Proteins for CHMP5 

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    Cloud-Clone Corp. CLIAs for CHMP5
    Search eBioscience for ELISAs for CHMP5 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CHMP: Charged multivesicular body proteins

    1 InterPro protein domain:
     IPR005024 Snf7

    Graphical View of Domain Structure for InterPro Entry Q9NZZ3

    ProtoNet protein and cluster: Q9NZZ3

    1 Blocks protein domain: IPB005024 Eukaryotic protein of unknown function DUF279

    UniProtKB/Swiss-Prot: CHMP5_HUMAN, Q9NZZ3
    Similarity: Belongs to the SNF7 family


    Find genes that share domains with CHMP5           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CHMP5_HUMAN, Q9NZZ3
    Function: Probable peripherally associated component of the endosomal sorting required for transport complex III
    (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins
    into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the
    limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane
    proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to
    require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from
    the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically
    equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped
    viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle
    extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in HIV-1
    p6- and p9-dependent virus release

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17711858
         
    Find genes that share ontologies with CHMP5           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Chmp5):
     cardiovascular system  cellular  embryogenesis  growth/size/body  mortality/aging 
     nervous system 

    Find genes that share phenotypes with CHMP5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Chmp5tm1Gho for CHMP5

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CHMP5
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    hsa-miR-323-3p hsa-miR-676 hsa-miR-607 hsa-miR-429 hsa-miR-199b-3p hsa-miR-199a-3p hsa-miR-496 hsa-miR-3129-5p
    SwitchGear 3'UTR luciferase reporter plasmidCHMP5 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CHMP5
    Predesigned siRNA for gene silencing in human, mouse, rat CHMP5

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    GenScript: all cDNA clones in your preferred vector (see all 2): CHMP5 (NM_016410)
    Sino Biological Human cDNA Clone for CHMP5
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHMP5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHMP5

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    eBioscience FlowRNA Probe Sets ( VA1-12017) for CHMP5 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CHMP5_HUMAN, Q9NZZ3: Cytoplasm, cytosol. Endosome membrane; Peripheral membrane protein (Probable).
    Note=Localizes to the midbody of dividing cells. Localized in two distinct rings on either side of the Fleming
    body
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    endosome5
    mitochondrion2
    nucleus2
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005829cytosol TAS--
    GO:0010008endosome membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with CHMP5           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CHMP5 About    
    See pathways by source

    SuperPathContained pathways About
    1HIV Life Cycle
    HIV Life Cycle0.91
    HIV Infection0.62
    Late Phase of HIV Life Cycle0.91
    2Budding and maturation of HIV virion
    Budding and maturation of HIV virion0.64
    Endosomal Sorting Complex Required For Transport (ESCRT)0.64
    3Clathrin derived vesicle budding
    Membrane Trafficking0.32
    4Endocytosis
    Endocytosis
    5Disease
    Disease


    Find genes that share SuperPaths with CHMP5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for CHMP5
        Budding and maturation of HIV virion
    Endosomal Sorting Complex Required For Transport (ESCRT)


    1 Kegg Pathway  (Kegg details for CHMP5):
        Endocytosis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CHMP5
    Interactions:

        Search GeneGlobe Interaction Network for CHMP5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CHMP5 (Q9NZZ31, 2, 3 ENSP000002235004) via UniProtKB, MINT, STRING, and/or I2D (see all 87)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPBP2Q926242, 3, ENSP000000831824MINT-68074 I2D: score=5 STRING: ENSP00000083182
    HIST1H2BCP628073I2D: score=1 
    HIST1H2BEP628073I2D: score=1 
    HIST1H2BFP628073I2D: score=1 
    HIST1H2BGP628073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001919regulation of receptor recycling IEA--
    GO:0007040lysosome organization IEA--
    GO:0008333endosome to lysosome transport IEA--
    GO:0015031protein transport IEA--
    GO:0016032viral process TAS--

    Find genes that share ontologies with CHMP5           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CHMP5



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CHMP5 gene (2 alternative transcripts): 
    NM_001195536.1  NM_016410.5  

    Unigene Cluster for CHMP5:

    Charged multivesicular body protein 5
    Hs.635313  [show with all ESTs]
    Unigene Representative Sequence: NM_016410
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000223500 ENST00000487080 ENST00000419016(uc003zsm.4 uc011lnv.2)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CHMP5 (see all 22):
    hsa-miR-323-3p hsa-miR-676 hsa-miR-607 hsa-miR-429 hsa-miR-199b-3p hsa-miR-199a-3p hsa-miR-496 hsa-miR-3129-5p
    SwitchGear 3'UTR luciferase reporter plasmidCHMP5 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHMP5
    Primer
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    Additional mRNA sequence: 

    AF132968.1 AF161525.1 AF229832.1 AF275810.1 AK024753.1 AK295744.1 AK315455.1 BC006974.1 
    BC007457.1 BC016698.1 BC018603.1 BC020796.1 BC021168.1 

    24 DOTS entries:

    DT.97859589  DT.70100200  DT.100701211  DT.100878174  DT.40111737  DT.121303570  DT.100878172  DT.121156509 
    DT.92331589  DT.70104660  DT.100878175  DT.92016989  DT.92439425  DT.100878176  DT.121156531  DT.91767476 
    DT.91970777  DT.95357916  DT.95372646  DT.95372647  DT.100691501  DT.100837530  DT.40132613  DT.97839334 

    Selected AceView cDNA sequences (see all 574):

    AI560591 CB158221 BG566297 AA353356 BQ267746 AI435203 BU159108 CB178801 
    BU947903 AA931986 CR602200 AI612776 AF275810 BP333968 BM479659 BM090980 
    BX449941 AI344531 AW020616 CA842880 CD365582 CB243772 CB160764 BM090764 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CHMP5 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16
    SP1:                    -                                                                                                               
    SP2:                                                                                                                                    
    SP3:                                                                                                                                    
    SP4:                                                                                                                                    
    SP5:                                                  -                                                                                 


    ECgene alternative splicing isoforms for CHMP5

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CHMP5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTGGGTATT
    CHMP5 Expression
    About this image


    CHMP5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Colon (Gastrointestinal Tract)
     
     Kidney (Urinary System)
     
     Uterus (Reproductive System)
    CHMP5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHMP5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.635313
        Custom PCR Arrays for CHMP5
    Primer
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHMP5

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CHMP5 gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chmp51 , 5 charged multivesicular body protein 51, 5 87.82(n)1
    98.63(a)1
      4 (20.69 cM)5
    769591  NM_029814.11  NP_084090.11 
     409484075 
    chicken
    (Gallus gallus)
    Aves CHMP51 charged multivesicular body protein 5 81.74(n)
    93.61(a)
      420968  NM_001277399.1  NP_001264328.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHMP56
    charged multivesicular body protein 5
    88(a)
    1 ↔ 1
    6(56621672-56639145)
    African clawed frog
    (Xenopus laevis)
    Amphibia hspc177-prov2 hypothetical protein MGC52936 78.16(n)    BC041499.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc641252 hypothetical protein MGC64125 77.02(n)   393351  BC053265.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG62591 CG6259 62.25(n)
    63.93(a)
      39964  NM_140740.4  NP_648997.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F41E6.91 F41E6.9 61.11(n)
    61.11(a)
      179242  NM_072818.4  NP_505219.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPS60(YDR486C)4
    VPS601
    Cytoplasmic and vacuolar membrane protein involved more4
    VPS601
    49.76(n)1
    34.3(a)1
      4(1428120-1427431)4
    8520971, 4  NP_010774.41  NP_010774.24 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons VPS60.21 VPS60.2 53.99(n)
    50.23(a)
      830364  NM_120567.2  NP_568143.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g01029001 Os05g0102900 52.71(n)
    46.98(a)
      4337536  NM_001060924.1  NP_001054389.1 


    ENSEMBL Gene Tree for CHMP5 (if available)
    TreeFam Gene Tree for CHMP5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CHMP5 gene

    Find genes that share paralogs with CHMP5           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for CHMP5
    PGOHUM00000244396 PGOHUM00000241268


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CHMP5 (see all 270)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1926286401,2
    --33266962(+) CAGATC/GCATAA 2 -- int10--------
    rs1484468371,2
    --33267455(+) TGGGCC/TATTGT 2 -- int10--------
    rs1833386871,2
    --33267527(+) GCTGTA/GCAAGT 2 -- int10--------
    rs1144979601,2
    F--33267657(+) ACAGAT/CAGGAG 2 -- int11Minor allele frequency- C:0.03WA 118
    rs1995429351,2
    C--33267706(+) TGGGA-/GGGGAA 2 -- int10--------
    rs1427143861,2
    --33267735(+) ATTATA/GCCTAC 2 -- int10--------
    rs1510049271,2
    --33267743(+) TACTAC/TTTTGA 2 -- int10--------
    rs1398318251,2
    C--33267823(+) CCTTAA/G/TTTTTA 2 -- int10--------
    rs1876747321,2
    C--33267839(+) TCTGTT/GTTTCT 2 -- int11Minor allele frequency- G:0.00EU 1187
    rs1431587431,2
    C--33267925(+) ACCTCC/TAGCAG 2 -- int10--------

    HapMap Linkage Disequilibrium report for CHMP5 (33264877 - 33282067 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CHMP5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv519369CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CHMP5
    DNA2.0 Custom Variant and Variant Library Synthesis for CHMP5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610900    OMIM disorders: --


    Find genes that share disorders with CHMP5           About GenesLikeMe

    Genetic Association Database (GAD): CHMP5
    Human Genome Epidemiology (HuGE) Navigator: CHMP5 (1 document)

    Export disorders for CHMP5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CHMP5 gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with CHMP5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The role of LIP5 and CHMP5 in multivesicular body formation and HIV-1 budding in mammalian cells. (PubMed id 15644320)1, 2, 3 Ward D.M.... Kaplan J. (J. Biol. Chem. 2005)
    2. Mechanism of inhibition of retrovirus release from cells by interferon-induced gene ISG15. (PubMed id 21543490)1, 2 Kuang Z....Leis J. (J. Virol. 2011)
    3. 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. (PubMed id 20932654)1, 4 Kerns S.L....Rosenstein B.S. (Int. J. Radiat. Oncol. Biol. Phys. 2010)
    4. Targeting of AMSH to endosomes is required for epidermal growth factor receptor degradation. (PubMed id 17261583)1, 2 Ma Y.M.... Kirchhausen T. (J. Biol. Chem. 2007)
    5. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Divergent retroviral late-budding domains recruit vacuolar protein sorting factors by using alternative adaptor proteins. (PubMed id 14519844)1, 2 Martin-Serrano J.... Bieniasz P.D. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    8. CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins. (PubMed id 11559748)1, 3 Howard T.L.... Hollenberg S.M. (J. Cell Sci. 2001)
    9. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    10. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2 Lai C.-H.... Lin W.-C. (Genome Res. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51510 HGNC: 26942 AceView: SNF7DC2 Ensembl:ENSG00000086065 euGenes: HUgn51510
    ECgene: CHMP5 Kegg: 51510 H-InvDB: CHMP5

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CHMP5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CHMP5 gene:
    Search GeneIP for patents involving CHMP5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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