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Aliases for BMS1 Gene

Aliases for BMS1 Gene

  • BMS1 Ribosome Biogenesis Factor 2 3
  • BMS1L 3 4 6
  • Ribosome Assembly Protein BMS1 Homolog 3 4
  • KIAA0187 4 6
  • BMS1 Homolog, Ribosome Assembly Protein (Yeast) 2
  • BMS1-Like, Ribosome Assembly Protein (Yeast) 2
  • Ribosome Biogenesis Protein BMS1 Homolog 3
  • BMS1 Homolog, Ribosome Assembly Protein 3
  • BMS1-Like, Ribosome Assembly Protein 3
  • 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 aplasia cutis congenita. Among its related pathways are Ribosome biogenesis in eukaryotes.

UniProtKB/Swiss-Prot for BMS1 Gene

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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BMS1 Gene

Genomics for BMS1 Gene

Regulatory Elements for BMS1 Gene

Genomic Location for BMS1 Gene

Start:
42,782,506 bp from pter
End:
42,834,937 bp from pter
Size:
52,432 bases
Orientation:
Plus strand

Genomic View for BMS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for BMS1 Gene

Proteomics data for BMS1 Gene at MOPED

Post-translational modifications for BMS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BMS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BMS1 Gene

Domains for BMS1 Gene

Protein Domains for BMS1 Gene

Suggested Antigen Peptide Sequences for BMS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14692

UniProtKB/Swiss-Prot:

BMS1_HUMAN :
  • Q14692
Domain:
  • Contains 1 Bms1-type G (guanine nucleotide-binding) domain.
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

No data available for Gene Families for BMS1 Gene

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.

Gene Ontology (GO) - Molecular Function for BMS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity --
GO:0005524 ATP binding IEA --
GO:0005525 GTP binding --
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with BMS1: view
genes like me logo Genes that share phenotypes with BMS1: view

miRNA for BMS1 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for BMS1 Gene COMPARTMENTS Subcellular localization image for BMS1 gene
Compartment Confidence
nucleus 4
cytosol 2

Gene Ontology (GO) - Cellular Components for BMS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus ISS --
genes like me logo Genes that share ontologies with BMS1: view

Pathways for BMS1 Gene

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

Pathways by source for BMS1 Gene

1 KEGG pathway for BMS1 Gene

Gene Ontology (GO) - Biological Process for BMS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042254 ribosome biogenesis --
GO:0042255 ribosome assembly ISS --
genes like me logo Genes that share ontologies with BMS1: view

Transcripts for BMS1 Gene

mRNA/cDNA for BMS1 Gene

Unigene Clusters for BMS1 Gene

BMS1 homolog, ribosome assembly protein (yeast):
Representative Sequences:

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

No ASD Table

Relevant External Links for BMS1 Gene

GeneLoc Exon Structure for
BMS1
ECgene alternative splicing isoforms for
BMS1

Expression for BMS1 Gene

mRNA expression in normal human tissues for BMS1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BMS1 Gene

SOURCE GeneReport for Unigene cluster for BMS1 Gene Hs.10848

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

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 35
  • 99.45 (n)
  • 99.53 (a)
BMS1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BMS1 35
  • 88.69 (n)
  • 89.16 (a)
BMS1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BMS1 35
  • 89.65 (n)
  • 90.3 (a)
BMS1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bms1 35
  • 83.33 (n)
  • 85.87 (a)
Bms1 16
Bms1 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BMS1 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 63 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Bms1 35
  • 83.6 (n)
  • 86.32 (a)
chicken
(Gallus gallus)
Aves BMS1 35
  • 71.83 (n)
  • 73.58 (a)
BMS1 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 70 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bms1 35
  • 67.63 (n)
  • 69.79 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7464 35
zebrafish
(Danio rerio)
Actinopterygii bms1l 35
  • 64.33 (n)
  • 65.75 (a)
bms1l 36
  • 64 (a)
OneToOne
Dr.17421 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005871 35
  • 54.14 (n)
  • 51.01 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7728 35
  • 56.55 (n)
  • 52.88 (a)
CG7728 36
  • 47 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y61A9LA.10 35
  • 55.36 (n)
  • 51.05 (a)
Y61A9LA.10 36
  • 47 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL113C 35
  • 53.56 (n)
  • 50.11 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BMS1 35
  • 54.43 (n)
  • 51.03 (a)
BMS1 36
  • 39 (a)
OneToOne
BMS1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B02068g 35
  • 52.48 (n)
  • 48.18 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G06720 35
  • 56.21 (n)
  • 51.23 (a)
rice
(Oryza sativa)
Liliopsida Os.19112 35
Os03g0333100 35
  • 56.73 (n)
  • 51.48 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04348 35
  • 52.27 (n)
  • 46.25 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes bms1 35
  • 52.31 (n)
  • 47.75 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1075 36
  • 45 (a)
OneToOne
Species with no ortholog for BMS1:
  • 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 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)

Paralogs for BMS1 Gene

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

No data available for Paralogs for BMS1 Gene

Variants for BMS1 Gene

Sequence variations from dbSNP and Humsavar for BMS1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs7133 -- 42,831,179(+) TGACA(A/C)GTCAG utr-variant-3-prime, nc-transcript-variant
rs787795 - 42,797,199(+) TTACA(A/G)GGAAG reference, missense, nc-transcript-variant
rs787796 -- 42,816,965(+) TCTCC(C/T)TTTTT intron-variant
rs787797 -- 42,787,945(+) AAAAT(A/G)CAAAT intron-variant
rs787798 -- 42,788,306(+) GCAAG(C/T)TTCTA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv248e1 CNV Complex 17122850
essv7677 CNV CNV 17122850
esv34929 CNV Loss 17911159
dgv249e1 CNV Complex 17122850
nsv895076 CNV Gain 21882294
esv29464 CNV Gain 19812545
nsv8627 CNV Gain+Loss 18304495
esv32721 CNV Loss 17666407

Relevant External Links for BMS1 Gene

HapMap Linkage Disequilibrium report
BMS1
Human Gene Mutation Database (HGMD)
BMS1

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

Disorders for BMS1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for BMS1 Gene including...

Search for BMS1 Gene in MalaCards »

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 mutations affecting the gene represented in this entry.

Relevant External Links for BMS1

Genetic Association Database (GAD)
BMS1
Human Genome Epidemiology (HuGE) Navigator
BMS1
genes like me logo Genes that share disorders with BMS1: view

Publications for BMS1 Gene

  1. 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. (PMID: 8724849) Nagase T. … Nomura N. (DNA Res. 1996) 3 4
  2. Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms. (PMID: 11779832) Crosier M. … Jackson M.S. (Genome Res. 2002) 2 3
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. (PMID: 21685912) HAPglinger G.U. … Schellenberg G.D. (Nat. Genet. 2011) 3 48
  5. BMS1 is mutated in aplasia cutis congenita. (PMID: 23785305) Marneros A.G. (PLoS Genet. 2013) 3 4

Products for BMS1 Gene

Sources for BMS1 Gene

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