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CHMP1A Gene

protein-coding   GIFtS: 52
GCID: GC16M089710

Charged Multivesicular Body Protein 1A

(Previous names: procollagen (type III) N-endopeptidase, chromatin modifying...)
(Previous symbols: PRSM1, PCOLN3)
  See CHMP1A-related disease
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 1A1 2     VPS46A2
PCOLN31 2 3 5     Charged Multivesicular Body Protein 1/Chromatin Modifying Protein 12
PRSM11 2 3 5     Protease, Metallo, 1, 33kD2
Chromatin Modifying Protein 1A1 2     CHMP1a3
Procollagen (Type III) N-Endopeptidase1 2     KIAA00473
Vacuolar Protein Sorting-Associated Protein 46-12 3     Vps46-13
CHMP12 3     Chromatin-Modifying Protein 1a3
PCH82 5     hVps46-13
VPS46-12     

External Ids:    HGNC: 87401   Entrez Gene: 51192   Ensembl: ENSG000001311657   OMIM: 1640105   UniProtKB: Q9HD423   

Export aliases for CHMP1A gene to outside databases

Previous GC identifers: GC16M088239 GC16M075406


(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 CHMP1A Gene:
This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting
of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene
suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect
the correct biological function of this encoded protein. Several transcripts encoding different isoforms have
been found for this gene. (provided by RefSeq, Dec 2012)

GeneCards Summary for CHMP1A Gene:
CHMP1A (charged multivesicular body protein 1A) is a protein-coding gene. Diseases associated with CHMP1A include pontocerebellar hypoplasia, type 8. GO annotations related to this gene include metallopeptidase activity and protein domain specific binding. An important paralog of this gene is CHMP1B.

UniProtKB/Swiss-Prot: CHM1A_HUMAN, Q9HD42
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
cytokinesis. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells. May also be involved in
chromosome condensation. Targets the Polycomb group (PcG) protein BMI1/PCGF4 to regions of condensed chromatin.
May play a role in stable cell cycle progression and in PcG gene silencing

Gene Wiki entry for CHMP1A 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_000016.9  NC_018927.2  NT_010498.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHMP1A gene promoter:
         SREBP-1c   MyoD   AP-2gamma   Meis-1b   Arnt   SREBP-1b   HNF-4alpha1   E2F   E2F-1   SREBP-1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHMP1A promoter sequence
   Search Chromatin IP Primers for CHMP1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHMP1A


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

Entrez Gene cytogenetic band: 16q24.3   Ensembl cytogenetic band:  16q24.3   HGNC cytogenetic band: 16q24.3

CHMP1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHMP1A gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M089710:  view genomic region     (about GC identifiers)

Start:
89,710,839 bp from pter      End:
89,724,253 bp from pter
Size:
13,415 bases      Orientation:
minus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CHM1A_HUMAN, Q9HD42 (See protein sequence)
Recommended Name: Charged multivesicular body protein 1a  
Size: 196 amino acids; 21703 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. Self-associates.
Interacts with CHMP1B. Interacts with VPS4A. Interacts with VPS4B. Interacts with PHF1. Interacts with IST1.
Interacts with MITD1
Caution: Was originally (PubMed:8863740) thought to be a metalloprotease (PRSM1). This was based on a wrong
translation of the ORF which gave rise to a putative protein of 318 AA containing a pattern reminiscent of zinc
metalloproteases
Sequence caution: Sequence=AAC50775.1; Type=Erroneous translation; Note=Wrong choice of frame;
Sequence=BAA07557.1; Type=Erroneous translation; Note=Wrong choice of frame;
3 PDB 3D structures from and Proteopedia for CHMP1A:
2JQ9 (3D)        2YMB (3D)        4A5X (3D)    
Secondary accessions: A2RU09 Q14468 Q15779 Q96G31
Alternative splicing: 2 isoforms:  Q9HD42-1   Q9HD42-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CHMP1A: NX_Q9HD42

Explore proteomics data for CHMP1A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys56, Lys98
  • Modification sites at PhosphoSitePlus

  • See CHMP1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001076783.1  NP_002759.2  

    ENSEMBL proteins: 
     ENSP00000380998   ENSP00000442120   ENSP00000449243   ENSP00000447899   ENSP00000253475  

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    antibodies-online peptides for CHMP1A

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    (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 Q9HD42

    ProtoNet protein and cluster: Q9HD42

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

    UniProtKB/Swiss-Prot: CHM1A_HUMAN, Q9HD42
    Similarity: Belongs to the SNF7 family


    Find genes that share domains with CHMP1A           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: CHM1A_HUMAN, Q9HD42
    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
    cytokinesis. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells. May also be involved in
    chromosome condensation. Targets the Polycomb group (PcG) protein BMI1/PCGF4 to regions of condensed chromatin.
    May play a role in stable cell cycle progression and in PcG gene silencing
    Induction: By muristerone

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11559748
    GO:0008237metallopeptidase activity TAS8863740
    GO:0008270zinc ion binding TAS8863740
    GO:0019904protein domain specific binding IPI17928862
         
    Find genes that share ontologies with CHMP1A           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CHMP1A:
     Increased viability after born 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CHMP1A
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    hsa-miR-182 hsa-miR-1271 hsa-miR-96
    SwitchGear 3'UTR luciferase reporter plasmidCHMP1A 3' UTR sequence
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    (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
    CHM1A_HUMAN, Q9HD42: Cytoplasm. Endosome membrane; Peripheral membrane protein. Nucleus matrix. Note=The
    cytoplasmic form is partially membrane-associated and localizes to early endosomes. The nuclear form remains
    associated with the chromosome scaffold during mitosis. On overexpression, it localizes to nuclear bodies
    characterized by nuclease-resistant condensed chromatin
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    endosome5
    nucleus5
    extracellular3
    cytosol1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000794condensed nuclear chromosome IDA11559747
    GO:0005769early endosome IDA11559748
    GO:0005815microtubule organizing center IDA11559748
    GO:0010008endosome membrane IEA--
    GO:0012505endomembrane system IDA11559748

    Find genes that share ontologies with CHMP1A           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CHMP1A
    Interactions:

        GeneGlobe Interaction Network for CHMP1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for CHMP1A (Q9HD421, 2, 3 ENSP000002534754) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USP8P408181, 2, 3, ENSP000003022394EBI-1057156,EBI-1050865 MINT-6946783 I2D: score=3 STRING: ENSP00000302239
    STAMBPO956301, 3, ENSP000003447424EBI-1057156,EBI-396676 I2D: score=2 STRING: ENSP00000344742
    USP54Q70EL12, 3, ENSP000003452164MINT-6946930 I2D: score=1 STRING: ENSP00000345216
    KIAA1715Q9C0E83, ENSP000002727484I2D: score=2 STRING: ENSP00000272748
    VPS4AQ9UN373, ENSP000002549504I2D: score=2 STRING: ENSP00000254950
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000910cytokinesis IMP19129479
    GO:0006351transcription, DNA-templated IEA--
    GO:0006508proteolysis TAS8863740
    GO:0007076mitotic chromosome condensation IDA11559747
    GO:0015031protein transport IEA--

    Find genes that share ontologies with CHMP1A           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 CHMP1A (CHM1A)



    (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 CHMP1A gene (2 alternative transcripts): 
    NM_001083314.3  NM_002768.4  

    Unigene Cluster for CHMP1A:

    Charged multivesicular body protein 1A
    Hs.589427  [show with all ESTs]
    Unigene Representative Sequence: NR_046418
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397901(uc002fnu.3 uc002fnv.3) ENST00000547687(uc002fnt.3)
    ENST00000535997 ENST00000549139 ENST00000550102 ENST00000549328 ENST00000551981
    ENST00000548650 ENST00000547614 ENST00000550872 ENST00000253475
    miRNA
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    Additional mRNA sequence: 

    AF281063.1 AK302055.1 BC007527.1 BC010000.2 BC132711.1 BC132713.1 BT006841.1 D38554.1 
    NR_046418.2 U58048.1 

    19 DOTS entries:

    DT.446956  DT.100886073  DT.100886047  DT.97859944  DT.99983922  DT.91754015  DT.95159578  DT.100886070 
    DT.102833352  DT.100886049  DT.100886058  DT.100886065  DT.120728264  DT.120728265  DT.120728291  DT.75197121 
    DT.95100760  DT.95320001  DT.75126166 

    Selected AceView cDNA sequences (see all 380):

    CR618565 AI363045 CB268012 BU957013 BC010000 BX443722 BQ668347 BQ919426 
    BX370797 AW239310 CD675233 CD366308 BU160176 AA596002 BF724992 BX366185 
    CR613704 AW002215 BG480548 BQ058016 BQ010617 BE396876 BC007527 BG822536 

    GeneLoc Exon Structure


    (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)
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    CHMP1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCCAGGTGG
    CHMP1A Expression
    About this image

    CHMP1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHMP1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.589427

    UniProtKB/Swiss-Prot: CHM1A_HUMAN, Q9HD42
    Tissue specificity: Expressed in placenta, cultured skin fibroblasts and in osteoblast cell line MG-63

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    (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 CHMP1A gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chmp1a1 , 5 charged multivesicular body protein 1A1, 5 90.82(n)1
    97.45(a)1
      8 (72.08 cM)5
    2348521  NM_145606.31  NP_663581.11 
     1232042645 
    chicken
    (Gallus gallus)
    Aves CHMP1A1 chromatin modifying protein 1A 85.2(n)
    94.9(a)
      415841  NM_001025440.1  NP_001020611.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHMP1A6
    charged multivesicular body protein 1A
    92(a)
    1 ↔ 1
    GL343487.1(596200-608662)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.255842 Xenopus laevis transcribed sequence with weak similarity more 79.63(n)    CA793301.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc659142 hypothetical protein MGC65914 83.54(n)   393535  AY398372.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DID26
    Class E protein of the vacuolar protein-sorting (V...
    45(a)
    1 → many
    XI(507939-508553) YKR035W-A
    soybean
    (Glycine max)
    eudicotyledons Gma.154892 Transcribed sequence with moderate similarity to protein more 73.71(n)  
    barley
    (Hordeum vulgare)
    Liliopsida Hv.57162 Transcribed sequence with moderate similarity to protein more 73.01(n)    AV928172.1 


    ENSEMBL Gene Tree for CHMP1A (if available)
    TreeFam Gene Tree for CHMP1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CHMP1A gene
    CHMP1B2  
    3 SIMAP similar genes for CHMP1A using alignment to 5 protein entries:     CHM1A_HUMAN (see all proteins):
    PCOLN3    CHMP1B    CHMP2A

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    1 Pseudogenes.org Pseudogene for CHMP1A
    PGOHUM00000243947


    (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 CHMP1A (see all 500)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs560411381,2
    C,F--89710358(+) CCACCG/AAGCAG 3 -- ds50012Minor allele frequency- A:0.04WA 120
    rs3529391,2
    C,F,A,H--89710378(-) ATGCAC/TTGGGG 3 -- ds50019Minor allele frequency- T:0.40NA WA EA 370
    rs1506010651,2
    C--89710398(+) CCGCA-/CCCCCC 3 -- ds50010--------
    rs125977741,2
    C,F,H--89710399(+) CCGCAC/TCCCCC 3 -- ds50012Minor allele frequency- T:0.50NA 4
    rs1892554631,2
    --89710400(+) CGCACA/CCCCCC 3 -- ds50010--------
    rs754662111,2
    F--89710485(+) CCTCCC/TAGATT 3 -- ds50011Minor allele frequency- T:0.04WA 118
    rs556537321,2
    C--89710511(+) AGGACG/ATGCAG 3 -- ds50013Minor allele frequency- A:0.12WA CSA 121
    rs1816087991,2
    --89710581(+) AGGGGA/GACCAC 3 -- ds50010--------
    rs576418851,2
    C,F--89710657(+) CAAGTT/CTTAAA 3 -- ds50013Minor allele frequency- C:0.25WA CSA 121
    rs1499828451,2
    --89710693(+) AACATA/GGGAGA 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for CHMP1A (89710839 - 89724253 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CHMP1A (see all 20):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2665924CNV Deletion23128226
    esv2657571CNV Deletion23128226
    esv2715192CNV Deletion23290073
    esv992091CNV Deletion20482838
    esv2715189CNV Deletion23290073
    esv2715194CNV Deletion23290073
    esv2715190CNV Deletion23290073
    esv2715191CNV Deletion23290073
    esv2715193CNV Deletion23290073
    esv1520837CNV Insertion17803354

    Human Gene Mutation Database (HGMD): CHMP1A
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CHMP1A
    DNA2.0 Custom Variant and Variant Library Synthesis for CHMP1A

    (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: 164010   
    OMIM disorders: 614961  
    UniProtKB/Swiss-Prot: CHM1A_HUMAN, Q9HD42
  • Pontocerebellar hypoplasia 8 (PCH8) [MIM:614961]: An autosomal recessive neurodevelopmental disorder
    characterized by severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual
    defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 1 disease for CHMP1A:    
    About MalaCards
    pontocerebellar hypoplasia, type 8


    Find genes that share disorders with CHMP1A           About GenesLikeMe


    Export disorders for CHMP1A 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 CHMP1A gene, integrated from 10 sources (see all 44):
    (articles sorted by number of sources associating them with CHMP1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CHMP1 is a novel nuclear matrix protein affecting chromatin structure and cell-cycle progression. (PubMed id 11559747)1, 2, 3, 9 Stauffer D.R.... Hollenberg S.M. (J. Cell Sci. 2001)
    2. CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins. (PubMed id 11559748)1, 2, 3 Howard T.L.... Hollenberg S.M. (J. Cell Sci. 2001)
    3. Biochemical analyses of human IST1 and its function in cytokinesis. (PubMed id 19129479)1, 2, 9 Bajorek M....Sundquist W.I. (Mol. Biol. Cell 2009)
    4. Molecular cloning, expression and chromosomal localization of a human gene encoding a 33 kDa putative metallopeptidase (PRSM1). (PubMed id 8863740)1, 2, 9 Scott I.C.... Kadler K.E. (Gene 1996)
    5. CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. (PubMed id 23023333)1, 2 Mochida G.H.... Walsh C.A. (Nat. Genet. 2012)
    6. ESCRT-III recognition by VPS4 ATPases. (PubMed id 17928862)1, 2 Stuchell-Brereton M.D.... Sundquist W.I. (Nature 2007)
    7. 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)
    8. The protein network of HIV budding. (PubMed id 14505570)1, 2 von Schwedler U.K.... Sundquist W.I. (Cell 2003)
    9. 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)
    10. Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 7584044)1, 2 Nomura N.... Tabata S. (DNA Res. 1994)

    (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: 5119 HGNC: 8740 AceView: PCOLN3 Ensembl:ENSG00000131165 euGenes: HUgn5119
    ECgene: CHMP1A H-InvDB: CHMP1A

    (According to HUGE)
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    HUGE: KIAA0047

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CHMP1A 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 CHMP1A gene:
    Search GeneIP for patents involving CHMP1A

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



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