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    BMS1 BMS1 ribosome biogenesis factor [ Homo sapiens (human) ]

    Gene ID: 9790, updated on 5-May-2024

    Summary

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    Official Symbol
    BMS1provided by HGNC
    Official Full Name
    BMS1 ribosome biogenesis factorprovided by HGNC
    Primary source
    HGNC:HGNC:23505
    See related
    Ensembl:ENSG00000165733 MIM:611448; AllianceGenome:HGNC:23505
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACC; BMS1L
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 6.4), appendix (RPKM 5.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    10q11.21
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (42782795..42834937)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (43660231..43712380)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (43278243..43330385)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378269 Neighboring gene Sharpr-MPRA regulatory region 13348 Neighboring gene uncharacterized LOC283028 Neighboring gene double homeobox A pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43264750-43265250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43265251-43265751 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3281 Neighboring gene small nucleolar RNA U13 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:43311987-43312910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43322605-43323486 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:43332057-43333007 Neighboring gene RNA, U6 small nuclear 885, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:43361281-43361914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:43361915-43362548 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:43366313-43366814 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:43366815-43367314 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43369982-43370710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43373919-43374419 Neighboring gene long intergenic non-protein coding RNA 2623 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43380976-43381476 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:43398966-43399195 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:43430829-43431004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43434211-43434711 Neighboring gene VISTA enhancer hs2327 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43455918-43456418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43465538-43466244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43469403-43470373 Neighboring gene Sharpr-MPRA regulatory region 9590 Neighboring gene VISTA enhancer hs2497 Neighboring gene long intergenic non-protein coding RNA 1264

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. BMS1 is mutated in aplasia cutis congenita. Marneros AG. PLoS Genet, 2013 Jun. PMID 23785305, Free PMC Article
    2. Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10q. Guy J, et al. Hum Mol Genet, 2000 Aug 12. PMID 10942432
    3. Genetic architecture of laterality defects revealed by whole exome sequencing. Li AH, et al. Eur J Hum Genet, 2019 Apr. PMID 30622330, Free PMC Article
    4. Bms1p, a novel GTP-binding protein, and the related Tsr1p are required for distinct steps of 40S ribosome biogenesis in yeast. Gelperin D, et al. RNA, 2001 Sep. PMID 11565749, Free PMC Article
    5. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Höglinger GU, et al. Nat Genet, 2011 Jun 19. PMID 21685912, Free PMC Article

    See all (98) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. We also observe evidence for an excess burden of rare, predicted loss-of-function variation in PXDNL and BMS1- two genes relevant to the broader laterality phenotype. These findings highlight potential new genes in the development of laterality defects, and suggest extensive locus heterogeneity and complex genetic models in this class of birth defects.
      Title: Genetic architecture of laterality defects revealed by whole exome sequencing.
    2. The data provide a novel link between BMS1, the cell cycle, and skin morphogenesis.
      Title: BMS1 is mutated in aplasia cutis congenita.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.
    4. Describes the distinct functions of yeast Bms1p and Tsr1p in ribosome biogenesis.
      Title: Bms1p, a novel GTP-binding protein, and the related Tsr1p are required for distinct steps of 40S ribosome biogenesis in yeast.
    5. Analysis of KIAA0187 paralogs show that exons 14-23 were formed through satellite-associated pericentromeric-directed duplication, whereas paralogs of exons 1-9 evolved via chromosome-specific satellite-independent duplications.
      Title: Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Aplasia cutis congenita
    MedGen: C0282160 OMIM: 107600 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0187

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA binding HDA PubMed 
    enables U3 snoRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ribosomal small subunit biogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of 90S preribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    part_of small-subunit processome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ribosome biogenesis protein BMS1 homolog
    Names
    BMS1 homolog, ribosome assembly protein
    BMS1-like, ribosome assembly protein
    ribosome assembly protein BMS1 homolog

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_046921.1 RefSeqGene

      Range
      5290..57432
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014753.4 → NP_055568.3  ribosome biogenesis protein BMS1 homolog

      See identical proteins and their annotated locations for NP_055568.3

      Status: REVIEWED

      Source sequence(s)
      AI184520, AI718109, AK308420, AL022344, BC043345, BC150252, DB064246
      Consensus CDS
      CCDS7199.1
      UniProtKB/Swiss-Prot
      Q14692, Q5QPT5, Q86XJ9
      Related
      ENSP00000363642.4, ENST00000374518.6
      Conserved Domains (4) summary
      smart00785
      Location:231 → 317
      AARP2CN; AARP2CN (NUC121) domain
      cd01882
      Location:44 → 273
      BMS1; Bms1, an essential GTPase, promotes assembly of preribosomal RNA processing complexes
      COG5192
      Location:41 → 1271
      BMS1; GTP-binding protein required for 40S ribosome biogenesis [Translation, ribosomal structure and biogenesis]
      pfam04950
      Location:834 → 1104
      RIBIOP_C; 40S ribosome biogenesis protein Tsr1 and BMS1 C-terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      42782795..42834937
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005271846.4 → XP_005271903.1  ribosome biogenesis protein BMS1 homolog isoform X1

      See identical proteins and their annotated locations for XP_005271903.1

      UniProtKB/Swiss-Prot
      Q14692, Q5QPT5, Q86XJ9
      Conserved Domains (4) summary
      smart00785
      Location:231 → 317
      AARP2CN; AARP2CN (NUC121) domain
      cd01882
      Location:44 → 273
      BMS1; Bms1, an essential GTPase, promotes assembly of preribosomal RNA processing complexes
      COG5192
      Location:41 → 1271
      BMS1; GTP-binding protein required for 40S ribosome biogenesis [Translation, ribosomal structure and biogenesis]
      pfam04950
      Location:834 → 1104
      RIBIOP_C; 40S ribosome biogenesis protein Tsr1 and BMS1 C-terminal

    2. XM_047426040.1 → XP_047281996.1  ribosome biogenesis protein BMS1 homolog isoform X2

    3. XM_011540402.3 → XP_011538704.1  ribosome biogenesis protein BMS1 homolog isoform X1

      See identical proteins and their annotated locations for XP_011538704.1

      UniProtKB/Swiss-Prot
      Q14692, Q5QPT5, Q86XJ9
      Conserved Domains (4) summary
      smart00785
      Location:231 → 317
      AARP2CN; AARP2CN (NUC121) domain
      cd01882
      Location:44 → 273
      BMS1; Bms1, an essential GTPase, promotes assembly of preribosomal RNA processing complexes
      COG5192
      Location:41 → 1271
      BMS1; GTP-binding protein required for 40S ribosome biogenesis [Translation, ribosomal structure and biogenesis]
      pfam04950
      Location:834 → 1104
      RIBIOP_C; 40S ribosome biogenesis protein Tsr1 and BMS1 C-terminal

    4. XM_047426041.1 → XP_047281997.1  ribosome biogenesis protein BMS1 homolog isoform X3

    5. XM_047426042.1 → XP_047281998.1  ribosome biogenesis protein BMS1 homolog isoform X4

    6. XM_047426043.1 → XP_047281999.1  ribosome biogenesis protein BMS1 homolog isoform X5

    RNA

    1. XR_007062019.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      43660231..43712380
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367247.1 → XP_054223222.1  ribosome biogenesis protein BMS1 homolog isoform X1

    2. XM_054367246.1 → XP_054223221.1  ribosome biogenesis protein BMS1 homolog isoform X1

    3. XM_054367248.1 → XP_054223223.1  ribosome biogenesis protein BMS1 homolog isoform X2

    4. XM_054367249.1 → XP_054223224.1  ribosome biogenesis protein BMS1 homolog isoform X3

    5. XM_054367250.1 → XP_054223225.1  ribosome biogenesis protein BMS1 homolog isoform X4

    6. XM_054367251.1 → XP_054223226.1  ribosome biogenesis protein BMS1 homolog isoform X5

    RNA

    1. XR_008488313.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14692.1 GenPept UniProtKB/Swiss-Prot:Q14692

    Gene LinkOut

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