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] See more...

Aliases for BMS1 Gene

Aliases for BMS1 Gene

  • BMS1 Ribosome Biogenesis Factor 2 3 5
  • Ribosome Biogenesis Protein BMS1 Homolog 3 4
  • Ribosome Assembly Protein BMS1 Homolog 3 4
  • KIAA0187 2 4
  • BMS1L 3 4
  • BMS1 Homolog, Ribosome Assembly Protein (Yeast) 2
  • BMS1-Like, Ribosome Assembly Protein (Yeast) 2
  • BMS1 Homolog, Ribosome Assembly Protein 3
  • BMS1-Like, Ribosome Assembly Protein 3
  • BMS1, Ribosome Biogenesis Factor 2
  • BMS1 5
  • ACC 3

External Ids for BMS1 Gene

Previous HGNC Symbols for BMS1 Gene

  • BMS1L

Previous GeneCards Identifiers for BMS1 Gene

  • GC10P042599
  • GC10P043277
  • GC10P039804

Summaries for BMS1 Gene

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 Aplasia Cutis Congenita, Nonsyndromic and Tooth Erosion. Among its related pathways are rRNA processing in the nucleus and cytosol and Ribosome biogenesis in eukaryotes. Gene Ontology (GO) annotations related to this gene include GTPase activity. An important paralog of this gene is TSR1.

UniProtKB/Swiss-Prot Summary for BMS1 Gene

  • May act as a molecular switch during maturation of the 40S ribosomal subunit in the nucleolus.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BMS1 Gene

Genomics for BMS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BMS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BMS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BMS1

Top Transcription factor binding sites by QIAGEN in the BMS1 gene promoter:
  • CUTL1
  • HNF-1
  • HNF-1A
  • STAT1
  • STAT1alpha
  • STAT1beta
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2

Genomic Locations for BMS1 Gene

Latest Assembly
chr10:42,782,775-42,834,937
(GRCh38/hg38)
Size:
52,163 bases
Orientation:
Plus strand

Previous Assembly
chr10:43,278,243-43,330,385
(GRCh37/hg19 by Entrez Gene)
Size:
52,143 bases
Orientation:
Plus strand

chr10:43,278,249-43,330,385
(GRCh37/hg19 by Ensembl)
Size:
52,137 bases
Orientation:
Plus strand

Genomic View for BMS1 Gene

Genes around BMS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BMS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BMS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMS1 Gene

Proteins for BMS1 Gene

  • Protein details for BMS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14692-BMS1_HUMAN
    Recommended name:
    Ribosome biogenesis protein BMS1 homolog
    Protein Accession:
    Q14692
    Secondary Accessions:
    • Q5QPT5
    • Q86XJ9

    Protein attributes for BMS1 Gene

    Size:
    1282 amino acids
    Molecular mass:
    145807 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA11504.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for BMS1 Gene

Post-translational modifications for BMS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BMS1 Gene

No data available for DME Specific Peptides for BMS1 Gene

Domains & Families for BMS1 Gene

Gene Families for BMS1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for BMS1 Gene

Suggested Antigen Peptide Sequences for BMS1 Gene

GenScript: Design optimal peptide antigens:
  • Ribosome assembly protein BMS1 homolog (BMS1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14692

UniProtKB/Swiss-Prot:

BMS1_HUMAN :
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Bms1-like GTPase family. BMS1 subfamily.
Family:
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Bms1-like GTPase family. BMS1 subfamily.
genes like me logo Genes that share domains with BMS1: view

Function for BMS1 Gene

Molecular function for BMS1 Gene

UniProtKB/Swiss-Prot Function:
May act as a molecular switch during maturation of the 40S ribosomal subunit in the nucleolus.

Phenotypes From GWAS Catalog for BMS1 Gene

Gene Ontology (GO) - Molecular Function for BMS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding HDA 22658674
GO:0003924 GTPase activity IBA 21873635
GO:0005524 ATP binding IEA --
GO:0005525 GTP binding IBA 21873635
genes like me logo Genes that share ontologies with BMS1: view
genes like me logo Genes that share phenotypes with BMS1: view

Human Phenotype Ontology for BMS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BMS1 Gene

MGI Knock Outs for BMS1:
  • Bms1 Bms1<tm1b(EUCOMM)Hmgu>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMS1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BMS1 Gene

Localization for BMS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BMS1 Gene

Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BMS1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitotic chromosome (4)
  • Nucleoli (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BMS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IDA --
GO:0005730 nucleolus ISS --
GO:0030686 90S preribosome IBA 21873635
genes like me logo Genes that share ontologies with BMS1: view

Pathways & Interactions for BMS1 Gene

genes like me logo Genes that share pathways with BMS1: view

Gene Ontology (GO) - Biological Process for BMS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA 21873635
GO:0000479 endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA 21873635
GO:0006364 rRNA processing TAS --
GO:0042254 ribosome biogenesis IEA --
genes like me logo Genes that share ontologies with BMS1: view

No data available for SIGNOR curated interactions for BMS1 Gene

Drugs & Compounds for BMS1 Gene

No Compound Related Data Available

Transcripts for BMS1 Gene

mRNA/cDNA for BMS1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMS1

Alternative Splicing Database (ASD) splice patterns (SP) for BMS1 Gene

No ASD Table

Relevant External Links for BMS1 Gene

GeneLoc Exon Structure for
BMS1

Expression for BMS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BMS1 Gene

Protein differential expression in normal tissues from HIPED for BMS1 Gene

This gene is overexpressed in Plasma (18.8), Adrenal (13.6), and Peripheral blood mononuclear cells (13.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BMS1 Gene



Protein tissue co-expression partners for BMS1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BMS1

SOURCE GeneReport for Unigene cluster for BMS1 Gene:

Hs.10848

Evidence on tissue expression from TISSUES for BMS1 Gene

  • Liver(4.4)
  • Skin(4.4)
  • Bone marrow(4.3)
  • Nervous system(3.9)
  • Muscle(2.7)
  • Intestine(2.2)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BMS1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • skeleton
Regions:
Head and neck:
  • head
  • scalp
  • skull
General:
  • blood
  • blood vessel
  • hair
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with BMS1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for BMS1 Gene

Orthologs for BMS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BMS1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BMS1 30 31
  • 99.45 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BMS1 30 31
  • 89.65 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BMS1 30 31
  • 88.69 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bms1 30
  • 83.6 (n)
Mouse
(Mus musculus)
Mammalia Bms1 30 17 31
  • 83.33 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BMS1 31
  • 77 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 76 (a)
OneToMany
-- 31
  • 63 (a)
OneToMany
Chicken
(Gallus gallus)
Aves BMS1 30 31
  • 71.83 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 87 (a)
OneToMany
-- 31
  • 70 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bms1 30
  • 67.63 (n)
Zebrafish
(Danio rerio)
Actinopterygii bms1l 30 31
  • 64.33 (n)
OneToOne
Dr.17421 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7464 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG7728 30 31
  • 56.55 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005871 30
  • 54.14 (n)
Worm
(Caenorhabditis elegans)
Secernentea CELE_Y61A9LA.10 30
  • 55.36 (n)
Y61A9LA.10 31
  • 47 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BMS1 30 31 33
  • 54.43 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFL113C 30
  • 53.56 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B02068g 30
  • 52.48 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G06720 30
  • 56.21 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0333100 30
  • 56.73 (n)
Os.19112 30
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes bms1 30
  • 52.31 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU04348 30
  • 52.27 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1075 31
  • 45 (a)
OneToOne
Species where no ortholog for BMS1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for BMS1 Gene

ENSEMBL:
Gene Tree for BMS1 (if available)
TreeFam:
Gene Tree for BMS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BMS1: view image

Paralogs for BMS1 Gene

Variants for BMS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BMS1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs111400882 Benign: not provided 42,797,003(+) G/C
NM_014753.4(BMS1):c.1759G>C (p.Val587Leu)
MISSENSE
rs112721376 Benign: not provided 42,823,652(+) G/A
NM_014753.4(BMS1):c.3324G>A (p.Ala1108=)
SYNONYMOUS
rs1176079994 Likely Benign: not provided 42,831,009(+) C/A
NM_014753.4(BMS1):c.3762C>A (p.Leu1254=)
SYNONYMOUS
rs1194605534 Likely Benign: not provided 42,793,135(+) C/T
NM_014753.4(BMS1):c.1080C>T (p.His360=)
SYNONYMOUS
rs1214081050 Likely Benign: not provided 42,784,538(+) G/A
NM_014753.4(BMS1):c.144G>A (p.Gln48=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BMS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for BMS1 Gene

Variant ID Type Subtype PubMed ID
esv2759746 CNV loss 17122850
esv29464 CNV gain 19812545
esv32721 CNV loss 17666407
esv34929 CNV loss 17911159
esv3623028 CNV loss 21293372
esv3623029 CNV loss 21293372
nsv1042764 CNV gain 25217958
nsv1047838 CNV gain 25217958
nsv550672 CNV gain 21841781
nsv8627 CNV gain+loss 18304495
nsv947889 CNV duplication 23825009
nsv947891 CNV duplication 23825009
nsv948330 CNV duplication 23825009

Variation tolerance for BMS1 Gene

Residual Variation Intolerance Score: 93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.73; 86.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BMS1 Gene

Human Gene Mutation Database (HGMD)
BMS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BMS1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMS1 Gene

Disorders for BMS1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for BMS1 Gene - From: OMI, CVR, GTR, ORP, SWI, and COP

Disorder Aliases PubMed IDs
aplasia cutis congenita, nonsyndromic
  • acc
tooth erosion
  • generalized erosion
adams-oliver syndrome
  • adams oliver syndrome
- elite association - COSMIC cancer census association via MalaCards
Search BMS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BMS1_HUMAN
  • Aplasia cutis congenita, non-syndromic (ACC) [MIM:107600]: A disorder characterized by congenital absence of a portion of skin in a localized or widespread area of the body. The lesions are most commonly localized on the scalp, however aplasia cutis congenita can affect any part of the body. {ECO:0000269 PubMed:23785305}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for BMS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with BMS1: view

No data available for Genatlas for BMS1 Gene

Publications for BMS1 Gene

  1. BMS1 is mutated in aplasia cutis congenita. (PMID: 23785305) Marneros AG (PLoS genetics 2013) 2 3 4 74
  2. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. (PMID: 21685912) Höglinger GU … Schellenberg GD (Nature genetics 2011) 3 41
  3. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PMID: 19204726) Chapuis J … Lambert JC (Molecular psychiatry 2009) 3 41
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms. (PMID: 11779832) Crosier M … Jackson MS (Genome research 2002) 2 3

Products for BMS1 Gene

Sources for BMS1 Gene