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BMS1 Gene

protein-coding   GIFtS: 53
GCID: GC10P043277

BMS1 Ribosome Biogenesis Factor

(Previous names: BMS1-like, ribosome assembly protein (yeast), BMS1 homolog,...)
(Previous symbol: BMS1L)
  See BMS1-related diseases
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
BMS1 Ribosome Biogenesis Factor1 2     BMS1-Like, Ribosome Assembly Protein (Yeast)1
BMS1L1 2 3 5     BMS1 Homolog, Ribosome Assembly Protein2
Ribosome Assembly Protein BMS1 Homolog2 3     BMS1-Like, Ribosome Assembly Protein2
KIAA01873 5     Ribosome Biogenesis Protein BMS1 Homolog2
BMS1 Homolog, Ribosome Assembly Protein (Yeast)1     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BMS1 Gene:
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)

GeneCards Summary for BMS1 Gene:
BMS1 (BMS1 ribosome biogenesis factor) is a protein-coding gene. Diseases associated with BMS1 include circumscribed cutaneous aplasia of the vertex, and aplasia cutis congenita.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   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 Chromatin IP Primers for BMS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BMS1_HUMAN, Q14692 (See protein sequence)
Recommended Name: Ribosome biogenesis protein BMS1 homolog  
Size: 1282 amino acids; 145807 Da
Sequence caution: Sequence=BAA11504.2; Type=Erroneous initiation;
Secondary accessions: Q5QPT5 Q86XJ9

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

Explore proteomics data for BMS1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BMS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055568.3  
    ENSEMBL proteins: 
     ENSP00000363642  

    BMS1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BMS1

     
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    Search antibodies-online for proteins for BMS1 

     
    antibodies-online peptides for BMS1

    BMS1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    antibodies-online antibodies for BMS1 (6 products) 

    BMS1 Assay Products:

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    Cloud-Clone Corp. ELISAs for BMS1
    Cloud-Clone Corp. CLIAs for BMS1
    Search eBioscience for ELISAs for BMS1 
    antibodies-online kits for BMS1 (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR012948 AARP2CN
     IPR027417 P-loop_NTPase
     IPR007034 BMS1_TSR1_C

    Graphical View of Domain Structure for InterPro Entry Q14692

    ProtoNet protein and cluster: Q14692

    1 Blocks protein domain: IPB012948 AARP2CN

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


    Find genes that share domains with BMS1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: BMS1_HUMAN, Q14692
    Function: May act as a molecular switch during maturation of the 40S ribosomal subunit in the nucleolus (By
    similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity ----
    GO:0005524ATP binding IEA--
    GO:0005525GTP binding ----
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with BMS1           About GenesLikeMe


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

         1 MGI phenotypic allele for Bms1 (no phenotypes)

    Find genes that share phenotypes with BMS1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for BMS1

    miRNA
    Products:
        
    miRTarBase miRNAs that target BMS1:
    hsa-mir-1296-5p (MIRT036128), hsa-mir-30a-5p (MIRT028582), hsa-mir-484 (MIRT042134), hsa-mir-16-5p (MIRT031746)

    Block miRNA regulation of human, mouse, rat BMS1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate BMS1:
    hsa-miR-1299 hsa-miR-606 hsa-miR-3145-3p hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidBMS1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BMS1
    Predesigned siRNA for gene silencing in human, mouse, rat BMS1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for BMS1

    Clone
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    OriGene clones in human, mouse for BMS1 (see all 6)
    OriGene ORF clones in mouse, rat for BMS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): BMS1 (NM_016836)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BMS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BMS1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for BMS1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMS1


    (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
    BMS1_HUMAN, Q14692: Nucleus, nucleolus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with BMS1           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 BMS1 About    
    See pathways by source

    SuperPathContained pathways About
    1Ribosome biogenesis in eukaryotes
    Ribosome biogenesis in eukaryotes


    Find genes that share SuperPaths with BMS1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BMS1
    Interactions:

        Search GeneGlobe Interaction Network for BMS1

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

    Selected Interacting proteins for BMS1 (Q146923 ENSP000003636424) via UniProtKB, MINT, STRING, and/or I2D (see all 201)
    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): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042254ribosome biogenesis ----
    GO:0042255ribosome assembly ISS--

    Find genes that share ontologies with BMS1           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 BMS1



    (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 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
    Products:
         
    Block miRNA regulation of human, mouse, rat BMS1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate BMS1:
    hsa-miR-1299 hsa-miR-606 hsa-miR-3145-3p hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidBMS1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for BMS1
    Predesigned siRNA for gene silencing in human, mouse, rat BMS1
    Clone
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    OriGene clones in human, mouse for BMS1 (see all 6)
    OriGene ORF clones in mouse, rat for BMS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): BMS1 (NM_016836)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BMS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BMS1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for BMS1
    OriGene qSTAR qPCR primer pairs in human, mouse for BMS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BMS1
      QuantiTect SYBR Green Assays in human, mouse, rat BMS1
      QuantiFast Probe-based Assays in human, mouse, rat BMS1

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 237):

    AA399425 AL516236 AA411513 BQ882635 D80009 BQ048847 AA261816 AU124206 
    AA421215 BX472618 BP357259 BE336651 AL701779 BU684155 BU501671 BG231718 
    BM722802 AI753409 BE298655 BU162655 AA402812 BU674962 AI049943 CB157112 

    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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    BMS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTTGGGGCT
    BMS1 Expression
    About this image

    BMS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BMS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.10848
        Custom PCR Arrays for BMS1
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat BMS1
    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for BMS1 gene from Selected species (see all 25)    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 83.33(n)1
    85.87(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) 71.83(n)
    73.58(a)
      423633  NM_001199520.1  NP_001186449.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    87(a)
    70(a)
    many → 1
    many → 1
    GL343967.1(626-9418)
    GL343233.1(68493-103130)
    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 56.55(n)
    52.88(a)
      39904  NM_140688.3  NP_648945.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y61A9LA.101 CELE_Y61A9LA.10 55.36(n)
    51.05(a)
      178851  NM_071844.5  NP_504245.3 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BMS1(YPL217C)4
    BMS11
    GTPase required for synthesis of 40S ribosomal subunits more4
    BMS11
    54.43(n)1
    51.03(a)1
      16(143171-139620)4
    8558841, 4  NP_015107.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G067201 AT1G06720 56.21(n)
    51.23(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)
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    Paralogs for BMS1 gene

    Find genes that share paralogs with BMS1           About GenesLikeMe


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


    (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 BMS1 (see all 1344)    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/AGATGG 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
    C--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
         Database of Genomic Variants (DGV) 8 variations for BMS1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv32721CNV Loss17666407
    esv34929CNV Loss17911159
    esv29464CNV Gain19812545
    nsv895076CNV Gain21882294
    nsv8627CNV Gain+Loss18304495
    essv7677CNV CNV17122850
    dgv249e1CNV Complex17122850
    dgv248e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): BMS1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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.)
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    OMIM gene information: 611448    OMIM disorders: --

    3 diseases for BMS1:    
    About MalaCards
    circumscribed cutaneous aplasia of the vertex    aplasia cutis congenita    tauopathy


    Find genes that share disorders with BMS1           About GenesLikeMe

    Genetic Association Database (GAD): BMS1
    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)
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    PubMed articles for BMS1 gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with BMS1)
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    1. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. (PubMed id 21685912)1, 4 HAPglinger G.U....Schellenberg G.D. (Nat. Genet. 2011)
    2. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PubMed id 19204726)1, 4 Chapuis J....Lambert J.C. (Mol. Psychiatry 2009)
    3. 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)
    4. 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. (Genome Res. 2002)
    5. 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. (DNA Res. 1996)
    6. BMS1 is mutated in aplasia cutis congenita. (PubMed id 23785305)1 Marneros A.G. (PLoS Genet. 2013)
    7. Targeted ubiquitination and degradation of G-protein-coupled receptor kinase 5 by the DDB1-CUL4 ubiquitin ligase complex. (PubMed id 22952844)1 Wu Z....Ma L. (PLoS ONE 2012)
    8. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    9. Functional proteomics establishes the interaction of SIRT7 with chromatin remodeling complexes and expands its role in regulation of RNA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C.... Cristea I.M. (Mol. Cell. Proteomics 2012)
    10. Interactome study suggests multiple cellular functions of hepatoma-derived growth factor (HDGF). (PubMed id 21907836)1 Zhao J....Yang P. (J Proteomics 2011)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9790 HGNC: 23505 AceView: BMS1L Ensembl:ENSG00000165733 euGenes: HUgn9790
    ECgene: BMS1 Kegg: 9790 H-InvDB: BMS1

    (According to HUGE)
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    HUGE: KIAA0187

    (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 BMS1 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 BMS1 gene:
    Search GeneIP for patents involving BMS1

    GeneCards and IP:
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