BMS1 (BMS1 ribosome biogenesis factor)

2014-11-01  

Identity

HGNC
LOCATION
10q11.21
LOCUSID
ALIAS
ACC,BMS1L
FUSION GENES

Other Information

Locus ID:

NCBI: 9790
MIM: 611448
HGNC: 23505
Ensembl: ENSG00000165733

Variants:

dbSNP: 9790
ClinVar: 9790
TCGA: ENSG00000165733
COSMIC: BMS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165733ENST00000374518Q14692

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Ribosome biogenesis in eukaryotesKEGGko03008
Ribosome biogenesis in eukaryotesKEGGhsa03008
Gene ExpressionREACTOMER-HSA-74160
rRNA processingREACTOMER-HSA-72312
Major pathway of rRNA processing in the nucleolus and cytosolREACTOMER-HSA-6791226
rRNA modification in the nucleus and cytosolREACTOMER-HSA-6790901
rRNA processing in the nucleus and cytosolREACTOMER-HSA-8868773

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
192047262009Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.63
115657492001Bms1p, a novel GTP-binding protein, and the related Tsr1p are required for distinct steps of 40S ribosome biogenesis in yeast.60
237853052013BMS1 is mutated in aplasia cutis congenita.10
117798322002Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms.8
306223302019Genetic architecture of laterality defects revealed by whole exome sequencing.3

Citation

Dessen P

BMS1 (BMS1 ribosome biogenesis factor)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60770/bms1-(bms1-ribosome-biogenesis-factor)