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

Gene ID: 9790, updated on 5-Mar-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
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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
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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

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