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BMS1 (BMS1 ribosome biogenesis factor)

Identity

Alias (NCBI)ACC
BMS1L
HGNC (Hugo) BMS1
HGNC Alias symbKIAA0187
HGNC Previous nameBMS1L
HGNC Previous nameBMS1-like, ribosome assembly protein (yeast)
 BMS1 homolog, ribosome assembly protein (yeast)
LocusID (NCBI) 9790
Atlas_Id 60770
Location 10q11.21  [Link to chromosome band 10q11]
Location_base_pair Starts at 42782795 and ends at 42834937 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BMS1 (10q11.21) / NUCKS1 (1q32.1)BMS1 (10q11.21) / PHYHIPL (10q21.1)BMS1 (10q11.21) / PLEKHA7 (11p15.1)
OSCP1 (1p34.3) / BMS1 (10q11.21)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(10;10)(q11;q11) PARG/BMS1
t(10;10)(q11;q11) PARG/BMS1


External links

 

Nomenclature
HGNC (Hugo)BMS1   23505
Cards
Entrez_Gene (NCBI)BMS1    BMS1 ribosome biogenesis factor
AliasesACC; BMS1L
GeneCards (Weizmann)BMS1
Ensembl hg19 (Hinxton)ENSG00000165733 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165733 [Gene_View]  ENSG00000165733 [Sequence]  chr10:42782795-42834937 [Contig_View]  BMS1 [Vega]
ICGC DataPortalENSG00000165733
TCGA cBioPortalBMS1
AceView (NCBI)BMS1
Genatlas (Paris)BMS1
SOURCE (Princeton)BMS1
Genetics Home Reference (NIH)BMS1
Genomic and cartography
GoldenPath hg38 (UCSC)BMS1  -     chr10:42782795-42834937 +  10q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BMS1  -     10q11.21   [Description]    (hg19-Feb_2009)
GoldenPathBMS1 - 10q11.21 [CytoView hg19]  BMS1 - 10q11.21 [CytoView hg38]
ImmunoBaseENSG00000165733
Genome Data Viewer NCBIBMS1 [Mapview hg19]  
OMIM107600   611448   
Gene and transcription
Genbank (Entrez)AI184520 AI718109 AK308420 BC043345 BC150252
RefSeq transcript (Entrez)NM_014753
Consensus coding sequences : CCDS (NCBI)BMS1
Gene ExpressionBMS1 [ NCBI-GEO ]   BMS1 [ EBI - ARRAY_EXPRESS ]   BMS1 [ SEEK ]   BMS1 [ MEM ]
Gene Expression Viewer (FireBrowse)BMS1 [ Firebrowse - Broad ]
GenevisibleExpression of BMS1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9790
GTEX Portal (Tissue expression)BMS1
Human Protein AtlasENSG00000165733-BMS1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14692   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14692  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14692
PhosPhoSitePlusQ14692
Domaine pattern : Prosite (Expaxy)G_BMS1 (PS51714)   
Domains : Interpro (EBI)AARP2CN    Bms1/Tsr1    Bms1_N    BMS1_TSR1_C    G_Bms1/Tsr1_dom    P-loop_NTPase   
Domain families : Pfam (Sanger)AARP2CN (PF08142)    RIBIOP_C (PF04950)   
Domain families : Pfam (NCBI)pfam08142    pfam04950   
Domain families : Smart (EMBL)AARP2CN (SM00785)  DUF663 (SM01362)  
Conserved Domain (NCBI)BMS1
SuperfamilyQ14692
AlphaFold pdb e-kbQ14692   
Human Protein Atlas [tissue]ENSG00000165733-BMS1 [tissue]
HPRD10689
Protein Interaction databases
DIP (DOE-UCLA)Q14692
IntAct (EBI)Q14692
BioGRIDBMS1
STRING (EMBL)BMS1
ZODIACBMS1
Ontologies - Pathways
QuickGOQ14692
Ontology : AmiGOmaturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  RNA binding  GTPase activity  ATP binding  GTP binding  nucleoplasm  nucleoplasm  chromosome  nucleolus  nucleolus  rRNA processing  90S preribosome  U3 snoRNA binding  
Ontology : EGO-EBImaturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  RNA binding  GTPase activity  ATP binding  GTP binding  nucleoplasm  nucleoplasm  chromosome  nucleolus  nucleolus  rRNA processing  90S preribosome  U3 snoRNA binding  
NDEx NetworkBMS1
Atlas of Cancer Signalling NetworkBMS1
Wikipedia pathwaysBMS1
Orthology - Evolution
OrthoDB9790
GeneTree (enSembl)ENSG00000165733
Phylogenetic Trees/Animal Genes : TreeFamBMS1
Homologs : HomoloGeneBMS1
Homology/Alignments : Family Browser (UCSC)BMS1
Gene fusions - Rearrangements
Fusion : QuiverBMS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBMS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BMS1
dbVarBMS1
ClinVarBMS1
MonarchBMS1
1000_GenomesBMS1 
Exome Variant ServerBMS1
GNOMAD BrowserENSG00000165733
Varsome BrowserBMS1
ACMGBMS1 variants
VarityQ14692
Genomic Variants (DGV)BMS1 [DGVbeta]
DECIPHERBMS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBMS1 
Mutations
ICGC Data PortalBMS1 
TCGA Data PortalBMS1 
Broad Tumor PortalBMS1
OASIS PortalBMS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBMS1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DBMS1
Mutations and Diseases : HGMDBMS1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaBMS1
DgiDB (Drug Gene Interaction Database)BMS1
DoCM (Curated mutations)BMS1
CIViC (Clinical Interpretations of Variants in Cancer)BMS1
Cancer3DBMS1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM107600    611448   
Orphanet3198   
DisGeNETBMS1
MedgenBMS1
Genetic Testing Registry BMS1
NextProtQ14692 [Medical]
GENETestsBMS1
Target ValidationBMS1
Huge Navigator BMS1 [HugePedia]
ClinGenBMS1
Clinical trials, drugs, therapy
MyCancerGenomeBMS1
Protein Interactions : CTDBMS1
Pharm GKB GenePA162377556
PharosQ14692
Clinical trialBMS1
Miscellaneous
canSAR (ICR)BMS1
HarmonizomeBMS1
DataMed IndexBMS1
Probes
Litterature
PubMed67 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXBMS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:43:23 CEST 2021

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