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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CHMP1B Gene

protein-coding   GIFtS: 51
GCID: GC18P011851

charged multivesicular body protein 1B

(Previous name: chromatin modifying protein 1B )
 Explore 7 diseases affiliated with
CHMP1B via our new
 Human Malady Compendium 
Biological research products
for CHMP1B
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Charged Multivesicular Body Protein 1B1 2     Vps46-22 3
C18orf21 2 3     HVps46-21
CHMP1.51 2 3     C10orf22 5
Vps46B1 2     C18-ORF22
Chromatin Modifying Protein 1B1 2     Vacuolar Protein Sorting 46-22
Chromatin-Modifying Protein 1b2 3     CHMP1b3
Vacuolar Protein Sorting-Associated Protein 46-22 3     

External Ids:    HGNC: 242871   Entrez Gene: 571322   Ensembl: ENSG000002551127   OMIM: 6064865   UniProtKB: Q7LBR13   

Export aliases for CHMP1B gene to outside databases

Previous GC identifer: GC18P011842


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CHMP1B:
CHMP1B 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)

UniProtKB/Swiss-Prot: CHM1B_HUMAN, Q7LBR1
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
and SPAST to the midbody of dividing cells. Involved in HIV-1 p6- and p9-dependent virus release

Gene Wiki entry for CHMP1B


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.1  NT_010859.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHMP1B gene promoter:
         SRF   NF-1   NF-1/L   Pax-5   AML1a   ATF-2   SRF (504 AA)   c-Ets-1   NRF-2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHMP1B promoter sequence
   Search SABiosciences Chromatin IP Primers for CHMP1B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHMP1B


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

Entrez Gene cytogenetic band: 18p11.21   Ensembl cytogenetic band:  18p11.21   HGNC cytogenetic band: 18p11.21

CHMP1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHMP1B gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P011851:  view genomic region     (about GC identifiers)

Start:
11,851,389 bp from pter      End:
11,854,448 bp from pter
Size:
3,060 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CHM1B_HUMAN, Q7LBR1 (See protein sequence)
Recommended Name: Charged multivesicular body protein 1b  
Size: 199 amino acids; 22109 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 CHMP1A.
Interacts with VTA1; the interaction probably involves the open conformation of CHMP1B. Interacts with CHMP2A.
Interacts with VPS4A; the interaction is direct. Interacts with VPS4B; the interaction is direct. Interacts with SPAST
(via MIT domain); the interaction is direct. Interacts with IST1. Interacts with MITD1. Interacts with STAMBP
Subcellular location: Cytoplasm, cytosol. Endosome. Late endosome membrane; Peripheral membrane protein (Probable).
Note=Localizes to the midbody of dividing cells, colocalizing with CEP55 and CHMP5. Localized at the periphery of the
Fleming body
Sequence caution: Sequence=AAG01449.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for CHMP1B:
3EAB (3D)    
Secondary accessions: Q96E89 Q9HD41

Explore the universe of human proteins at neXtProt for CHMP1B: NX_Q7LBR1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q7LBR1

  • CHMP1B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_065145.2  
    ENSEMBL proteins: 
     ENSP00000432279  

    Human Recombinant Protein Products: 
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    Uscn Proteins for CHMP1B

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IEA--
    GO:0031902late endosome membrane IEA--


    CHMP1B for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CHMP1B for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR005024 Snf7

    Graphical View of Domain Structure for InterPro Entry Q7LBR1

    ProtoNet protein and cluster: Q7LBR1

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

    UniProtKB/Swiss-Prot: CHM1B_HUMAN, Q7LBR1
    Similarity: Belongs to the SNF7 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: CHM1B_HUMAN, Q7LBR1
    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
    and SPAST to the midbody of dividing cells. Involved in HIV-1 p6- and p9-dependent virus release

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    hsa-miR-300 hsa-miR-3653 hsa-miR-502-3p hsa-miR-9 hsa-miR-3658 hsa-miR-181b hsa-miR-3163 hsa-miR-381
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0019904protein domain specific binding IPI17928862


    CHMP1B for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Endocytosis
    Endocytosis1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for CHMP1B):
        Endocytosis


    CHMP1B for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CHMP1B

    5/25 Interacting proteins for CHMP1B (Q7LBR11, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USP8P408181, 2, 3EBI-2118090,EBI-1050865 MINT-6946799 I2D: score=3 
    STAMBPO956301, 3EBI-2118090,EBI-396676 I2D: score=3 
    USP54Q70EL12, 3MINT-6947265 I2D: score=1 
    VPS4AQ9UN373I2D: score=2 
    VPS4BO753513I2D: score=2 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000910cytokinesis IMP19129479
    GO:0007049cell cycle IEA--
    GO:0015031protein transport IEA--
    GO:0051301cell division ----


    CHMP1B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CHMP1B
    Search CenterWatch for drugs/clinical trials and news about CHMP1B / CHM1B 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CHMP1B gene: 
    NM_020412.4  

    Unigene Cluster for CHMP1B:

    Charged multivesicular body protein 1B
    Hs.656244  [show with all ESTs]
    Unigene Representative Sequence: NM_020412
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000526991(uc002kqe.3) ENST00000588284

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    hsa-miR-300 hsa-miR-3653 hsa-miR-502-3p hsa-miR-9 hsa-miR-3658 hsa-miR-181b hsa-miR-3163 hsa-miR-381
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    Additional cDNA sequence: 

    AF281064.1 AJ227887.1 AK314068.1 BC012733.2 BC065933.1 

    12 DOTS entries:

    DT.456010  DT.100807602  DT.100710406  DT.95100288  DT.121097667  DT.95339044  DT.97823223  DT.100807591 
    DT.102842686  DT.121097637  DT.75163694  DT.95149101 

    24/217 AceView cDNA sequences (see all 217):

    BE877631 BU627541 CR595824 AI453160 CF131956 CA398228 AI564294 CR595721 
    BC065933 BQ723453 CD369914 C04706 AL548185 AA830305 BU161149 CB070114 
    NM_020412 BM512172 CR609374 AL546791 BM844154 AA399458 AW022811 CB130551 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CHMP1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAGTGTATTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See CHMP1B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHMP1B

    SOURCE GeneReport for Unigene cluster: Hs.656244

    UniProtKB/Swiss-Prot: CHM1B_HUMAN, Q7LBR1
    Tissue specificity: Widely expressed. Expressed in pancreas, kidney, skeletal muscle, liver, lung, placenta and brain

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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CHMP1B gene from 6/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CHMP1B6
    hypothetical protein LOC422143
    96(a)
    1 ↔ 1
    4(1509856-1516424)
    lizard
    (Anolis carolinensis)
    Reptilia CHMP1B6
    --
    93(a)
    1 ↔ 1
    GL343528.1(17852-21612)
    fruit fly
    (Drosophila melanogaster)
    Insecta Chmp16
    Chmp1
    72(a)
    1 ↔ 1
    3L(18676244-18677161)
    worm
    (Caenorhabditis elegans)
    Secernentea F23C8.66
    Protein F23C8.6
    54(a)
    1 ↔ 1
    I(2420833-2421744)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons VPS46.21 SNF7-like protein 55.61(n)
    47.96(a)
      843634  NM_105961.2  NP_565053.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g06433001 hypothetical protein 59.52(n)
    47.96(a)
      4341638  NM_001064712.1  NP_001058177.1 


    ENSEMBL Gene Tree for CHMP1B (if available)
    TreeFam Gene Tree for CHMP1B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CHMP1B gene
    CHMP1A2  
    2 SIMAP similar genes for CHMP1B using alignment to 1 protein entry:     CHM1B_HUMAN:
    CHMP1A    CHMP2A

    CHMP1B for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CHMP1B
    PGOHUM00000258429


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHMP1B
    DNA2.0 Custom Variant and Variant Library Synthesis for CHMP1B

    (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.)
    About This Section

    CHMP1B for disorders           About GeneDecksing

    OMIM gene information: 606486    OMIM disorders: --

    7 diseases for CHMP1B:    About MalaCards
    spastic paraplegia    hereditary spastic paraplegia    paraplegia    spasticity
    bipolar disorder    conjunctivitis    malaria

    Genetic Association Database (GAD): CHMP1B
    Human Genome Epidemiology (HuGE) Navigator: CHMP1B (2 documents)

    Export disorders for CHMP1B 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)
    About This Section

    PubMed articles for CHMP1B gene, integrated from 9 sources (see all 39):
    (articles sorted by number of sources associating them with CHMP1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B. (PubMed id 15537668)1, 2, 3 Reid E....Sanderson C.M. (2005)
    2. Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B. (PubMed id 18997780)1, 2, 9 Yang D.... Hurley J.H. (2008)
    3. Structure and ESCRT-III protein interactions of the MIT domain of human VPS4A. (PubMed id 16174732)1, 2, 9 Scott A....Sundquist W.I. (2005)
    4. Biochemical analyses of human IST1 and its function in cytokinesis. (PubMed id 19129479)1, 2 Bajorek M....Sundquist W.I. (2009)
    5. ESCRT-III recognition by VPS4 ATPases. (PubMed id 17928862)1, 2 Stuchell-Brereton M.D.... Sundquist W.I. (2007)
    6. A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex. (PubMed id 16730941)1, 2 Tsang H.T.H....Sanderson C.M. (2006)
    7. Association analysis of CHMP1.5 genetic variation and bipolar disorder. (PubMed id 16094257)1, 4 McNabb L.D....Berrettini W.H. (2005)
    8. 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. (2004)
    9. The protein network of HIV budding. (PubMed id 14505570)1, 2 von Schwedler U.K.... Sundquist W.I. (2003)
    10. 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. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57132 HGNC: 24287 AceView: CHMP1.5 Ensembl:ENSG00000255112 euGenes: HUgn57132
    ECgene: CHMP1B Kegg: 57132 H-InvDB: CHMP1B

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CHMP1B 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 CHMP1B gene:
    Search GeneIP for patents involving CHMP1B

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