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

BMS1 Gene

protein-coding   GIFtS: 51
GCID: GC10P043277

BMS1 homolog, ribosome assembly protein (yeast)

(Previous names: BMS1-like, ribosome assembly protein (yeast) )
(Previous symbol: BMS1L)
 Explore 6 diseases affiliated with
BMS1 via our new
 Human Malady Compendium 
Biological research products
for BMS1
    

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

Aliases
BMS1 Homolog, Ribosome Assembly Protein (Yeast)1 2     BMS1-Like, Ribosome Assembly Protein (Yeast)1
BMS1L1 2 3     BMS1-Like, Ribosome Assembly Protein2
KIAA01871 3     Ribosome Biogenesis Protein BMS1 Homolog2
Ribosome Assembly Protein BMS1 Homolog2 3     

External Ids:    HGNC: 235051   Entrez Gene: 97902   Ensembl: ENSG000001657337   OMIM: 6114485   UniProtKB: Q146923   

Export aliases for BMS1 gene to outside databases

Previous GC identifers: GC10P042599 GC10P039804


(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 BMS1:
This gene likely encodes a ribosome assembly protein. A similar protein in yeast functions in 35S-rRNA processing,
which includes a series of cleavage steps critical for formation of 40S ribosomes. Related pseudogenes exist on
chromosomes 2, 9, 10, 15, 16, and 22.(provided by RefSeq, Mar 2009)

UniProtKB/Swiss-Prot: BMS1_HUMAN, Q14692
Function: May act as a molecular switch during maturation of the 40S ribosomal subunit in the nucleolus (By similarity)




(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_000010.10  NC_018921.1  NT_033985.7  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BMS1 gene promoter:
         USF1   STAT1   USF2   STAT1beta   USF-1:USF-2   CUTL1   HNF-1A   STAT1alpha   HNF-1   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBMS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for BMS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BMS1


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

Entrez Gene cytogenetic band: 10q11.21   Ensembl cytogenetic band:  10q11.21   HGNC cytogenetic band: 10q11.21

BMS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BMS1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P043277:  view genomic region     (about GC identifiers)

Start:
43,277,954 bp from pter      End:
43,330,385 bp from pter
Size:
52,432 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: BMS1_HUMAN, Q14692 (See protein sequence)
Recommended Name: Ribosome biogenesis protein BMS1 homolog  
Size: 1282 amino acids; 145807 Da
Subcellular location: Nucleus, nucleolus (By similarity)
Sequence caution: Sequence=BAA11504.2; Type=Erroneous initiation;
Secondary accessions: Q5QPT5 Q86XJ9

Explore the universe of human proteins at neXtProt for BMS1: NX_Q14692

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q14692

  • BMS1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055568.3  
    ENSEMBL proteins: 
     ENSP00000363642  

    Human Recombinant Protein Products: 
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    Uscn Proteins for BMS1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730nucleolus ISS--


    BMS1 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

    BMS1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR012948 AARP2CN
     IPR000795 EF_GTP-bd_dom
     IPR007034 BMS1_TSR1_C

    Graphical View of Domain Structure for InterPro Entry Q14692

    ProtoNet protein and cluster: Q14692

    1 Blocks protein family: IPB012948 AARP2CN

    UniProtKB/Swiss-Prot: BMS1_HUMAN, Q14692
    Similarity: Belongs to the BMS1/TSR1 family. BMS1 subfamily


    (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: BMS1_HUMAN, Q14692
    Function: May act as a molecular switch during maturation of the 40S ribosomal subunit in the nucleolus (By similarity)

    miRNA
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    hsa-miR-1299 hsa-miR-606 hsa-miR-3145-3p hsa-miR-570
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    Inhib. RNA
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    Clone
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IEA--
    GO:0005524ATP binding IEA--
    GO:0005525GTP binding IEA--


    BMS1 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for BMS1:
     Decreased viability of wild-ty  Nuclear 40S maturation defects  Nucleolar pre-40S maturation d 


    (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
    1Ribosome biogenesis in eukaryotes
    Ribosome biogenesis in eukaryotes1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for BMS1):
        Ribosome biogenesis in eukaryotes


    BMS1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BMS1

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

    5/197 Interacting proteins for BMS1 (Q146923 ENSP000003636424) via UniProtKB, MINT, STRING, and/or I2D (see all 197)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042255ribosome assembly ISS--


    BMS1 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 BMS1
    Search CenterWatch for drugs/clinical trials and news about BMS1 

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 BMS1 gene: 
    NM_014753.3  

    Unigene Cluster for BMS1:

    BMS1 homolog, ribosome assembly protein (yeast)
    Hs.10848  [show with all ESTs]
    Unigene Representative Sequence: NM_014753
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000374518(uc001jaj.3)

    miRNA
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    hsa-miR-1299 hsa-miR-606 hsa-miR-3145-3p hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidBMS1 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BMS1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BMS1

    Additional cDNA sequence: 

    AK308420.1 BC043345.1 BC150252.1 D80009.1 

    24 DOTS entries:

    DT.75116117  DT.91807063  DT.434102  DT.95325285  DT.86859760  DT.120678042  DT.100732238  DT.86857132 
    DT.91879566  DT.100042632  DT.100044818  DT.100044819  DT.120678004  DT.121248418  DT.121248435  DT.121248441 
    DT.92066201  DT.95169030  DT.95328755  DT.101973107  DT.92019415  DT.95169037  DT.97859885  DT.99955615 

    24/237 AceView cDNA sequences (see all 237):

    AA293345 BU162655 CB119695 BU177526 BP357259 CF130988 CB157112 AA402812 
    BM722802 AA047147 BG231718 AI753409 BQ052188 BQ882635 BE336651 AA300924 
    AI049943 AI609068 AA405999 AA411513 BU501671 BC043345 BU628286 NM_014753 

    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

    BMS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACTTGGGGCT

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

    About this image
    See BMS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BMS1

    SOURCE GeneReport for Unigene cluster: Hs.10848
        SABiosciences Custom PCR Arrays for BMS1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMS1

    (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 BMS1 gene from 10/36 species (see all 36)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bms11 , 5 BMS1 homolog, ribosome assembly protein (yeast)1, 5 84.48(n)1
    87.28(a)1
      6 (55.86 cM)5
    2138951  NM_194339.11  NP_919320.11 
     1183833835 
    chicken
    (Gallus gallus)
    Aves BMS11 BMS1 homolog, ribosome assembly protein (yeast) 71.84(n)
    73.49(a)
      423633  NM_001199520.1  NP_001186449.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    89(a)
    68(a)
    possible ortholog
    1 ↔ 1
    GL343967.1(669-6724)
    GL343233.1(70811-101575)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480535592   -- 73.88(n)    48053559 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.174212 Transcribed sequence with weak similarity to protein more 72.02(n)    BM889856.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG77281 CG7728 54.59(n)
    49.73(a)
      39904  NM_140688.2  NP_648945.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y61A9LA.106
    Protein Y61A9LA.10
    48(a)
    1 ↔ 1
    V(4607030-4615803)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BMS1(YPL217C)4
    BMS11
    GTPase required for synthesis of 40S ribosomal subunits more4
    Bms1p1
    52.8(n)1
    46.89(a)1
      16(143171-139620)4
    8558841, 4  NP_015107.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G067201 BMS1 and NUC121 domain-containing protein 53.81(n)
    47.46(a)
      837182  NM_100549.2  NP_172157.1 
    rice
    (Oryza sativa)
    Liliopsida Os.191122 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 72.23(n)    AK101050.1 


    ENSEMBL Gene Tree for BMS1 (if available)
    TreeFam Gene Tree for BMS1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BMS1 gene

    BMS1 for paralogs           About GeneDecksing


    5/21 Pseudogenes.org Pseudogenes for BMS1 (see all 21)
    PGOHUM00000258476 PGOHUM00000238461 PGOHUM00000258482 PGOHUM00000258484 PGOHUM00000258488


    (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

    10/1126 NCBI SNPs in BMS1 are shown (see all 1126    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs25060951,2
    C,F,A,H,--43275990(+) AAGGTG/ACAGGT 1 -- us2k111Minor allele frequency- A:0.14NS EA NA WA 1066
    rs1896152521,2
    --43276150(+) GCAGTA/GAGAGA 1 -- us2k10--------
    rs1416452331,2
    --43276195(+) GGGTGA/GACCTA 1 -- us2k10--------
    rs1173916981,2
    C,F,--43276241(+) GAGGCG/AGNNNN 1 -- us2k11Minor allele frequency- A:0.03NA 120
    rs732528841,2
    C,--43276248(+) ATGGGT/CGGAGG 1 -- us2k14Minor allele frequency- C:0.10WA NA EA 360
    rs39821991,2
    C,F,H,--43276292(-) AGAGAA/GTAGAA 1 -- us2k126Minor allele frequency- G:0.20NS EA NA 2796
    rs1822147651,2
    --43276297(+) TTCTCA/TTAGCA 1 -- us2k10--------
    rs792638161,2
    --43276352(+) GAGAGG/AAGGAA 1 -- us2k14Minor allele frequency- A:0.08CSA WA EA 241
    rs1853063091,2
    --43276362(+) AGTGCA/GAAATA 1 -- us2k10--------
    rs49486901,2
    H--43276397(+) AATAGA/TCCAGG 1 -- us2k14Minor allele frequency- T:0.00NS EA 418

    HapMap Linkage Disequilibrium report for BMS1 (43277954 - 43330385 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 8 variations for BMS1
         8 CNVs: 70974 9147 3797 6863 31724 70975 2862 30483

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BMS1
    DNA2.0 Custom Variant and Variant Library Synthesis for BMS1

    (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

    BMS1 for disorders           About GeneDecksing

    OMIM gene information: 611448    OMIM disorders: --

    6 diseases for BMS1:    About MalaCards
    supranuclear palsy    progressive supranuclear palsy    fanconi's anemia    tauopathy
    anemia    malaria

    Human Genome Epidemiology (HuGE) Navigator: BMS1 (2 documents)

    Export disorders for BMS1 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 BMS1 gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with BMS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms. (PubMed id 11779832)1, 3 Crosier M....Jackson M.S. (2002)
    3. Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 8724849)1, 2 Nagase T.... Nomura N. (1996)
    4. Targeted ubiquitination and degradation of G-protein-c oupled receptor kinase 5 by the DDB1-CUL4 ubiquitin ligase complex. (PubMed id 22952844)1 Wu Z....Ma L. (2012)
    5. Functional proteomics establishes the interaction of S IRT7 with chromatin remodeling complexes and expands its role in regulation of R NA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C....Cristea I.M. (2012)
    6. Interactome study suggests multiple cellular functions of hepatoma-derived growth factor (HDGF). (PubMed id 21907836)1 Zhao J....Yang P. (2011)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. (PubMed id 21685912)1 HAPglinger G.U....Schellenberg G.D. (2011)
    10. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9790 HGNC: 23505 AceView: BMS1L Ensembl:ENSG00000165733 euGenes: HUgn9790
    ECgene: BMS1 Kegg: 9790 H-InvDB: BMS1

    (According to HUGE)
    About This Section
    HUGE: KIAA0187

    (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 BMS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BMS1 gene:
    Search GeneIP for patents involving BMS1

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



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