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BMS1 (BMS1, ribosome biogenesis factor)

Identity

Alias_namesBMS1L
BMS1-like, ribosome assembly protein (yeast)
BMS1 homolog, ribosome assembly protein (yeast)
Alias_symbol (synonym)KIAA0187
Other aliasACC
HGNC (Hugo) BMS1
LocusID (NCBI) 9790
Atlas_Id 60770
Location 10q11.21  [Link to chromosome band 10q11]
Location_base_pair Starts at 42782506 and ends at 42834937 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
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

 


External links

Nomenclature
HGNC (Hugo)BMS1   23505
Cards
Entrez_Gene (NCBI)BMS1  9790  BMS1, ribosome biogenesis factor
AliasesACC; BMS1L
GeneCards (Weizmann)BMS1
Ensembl hg19 (Hinxton)ENSG00000165733 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165733 [Gene_View]  chr10:42782506-42834937 [Contig_View]  BMS1 [Vega]
ICGC DataPortalENSG00000165733
TCGA cBioPortalBMS1
AceView (NCBI)BMS1
Genatlas (Paris)BMS1
WikiGenes9790
SOURCE (Princeton)BMS1
Genetics Home Reference (NIH)BMS1
Genomic and cartography
GoldenPath hg38 (UCSC)BMS1  -     chr10:42782506-42834937 +  10q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BMS1  -     10q11.21   [Description]    (hg19-Feb_2009)
EnsemblBMS1 - 10q11.21 [CytoView hg19]  BMS1 - 10q11.21 [CytoView hg38]
Mapping of homologs : NCBIBMS1 [Mapview hg19]  BMS1 [Mapview hg38]
OMIM107600   611448   
Gene and transcription
Genbank (Entrez)AI184520 AI718109 AK308420 BC043345 BC150252
RefSeq transcript (Entrez)NM_014753
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BMS1
Cluster EST : UnigeneHs.10848 [ NCBI ]
CGAP (NCI)Hs.10848
Alternative Splicing GalleryENSG00000165733
Gene ExpressionBMS1 [ NCBI-GEO ]   BMS1 [ EBI - ARRAY_EXPRESS ]   BMS1 [ SEEK ]   BMS1 [ MEM ]
Gene Expression Viewer (FireBrowse)BMS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9790
GTEX Portal (Tissue expression)BMS1
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
Splice isoforms : SwissVarQ14692
PhosPhoSitePlusQ14692
Domaine pattern : Prosite (Expaxy)G_BMS1 (PS51714)   
Domains : Interpro (EBI)AARP2CN    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
DMDM Disease mutations9790
Blocks (Seattle)BMS1
SuperfamilyQ14692
Human Protein AtlasENSG00000165733
Peptide AtlasQ14692
HPRD10689
IPIIPI00006099   
Protein Interaction databases
DIP (DOE-UCLA)Q14692
IntAct (EBI)Q14692
FunCoupENSG00000165733
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  nucleus  nucleoplasm  nucleolus  nucleolus  rRNA processing  90S preribosome  U3 snoRNA binding  ribosome assembly  
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  nucleus  nucleoplasm  nucleolus  nucleolus  rRNA processing  90S preribosome  U3 snoRNA binding  ribosome assembly  
Pathways : KEGGRibosome biogenesis in eukaryotes   
NDEx NetworkBMS1
Atlas of Cancer Signalling NetworkBMS1
Wikipedia pathwaysBMS1
Orthology - Evolution
OrthoDB9790
GeneTree (enSembl)ENSG00000165733
Phylogenetic Trees/Animal Genes : TreeFamBMS1
HOVERGENQ14692
HOGENOMQ14692
Homologs : HomoloGeneBMS1
Homology/Alignments : Family Browser (UCSC)BMS1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBMS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BMS1
dbVarBMS1
ClinVarBMS1
1000_GenomesBMS1 
Exome Variant ServerBMS1
ExAC (Exome Aggregation Consortium)BMS1 (select the gene name)
Genetic variants : HAPMAP9790
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]  
Mutations and Diseases : HGMDBMS1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BMS1
DgiDB (Drug Gene Interaction Database)BMS1
DoCM (Curated mutations)BMS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BMS1 (select a term)
intoGenBMS1
Cancer3DBMS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM107600    611448   
Orphanet3198   
MedgenBMS1
Genetic Testing Registry BMS1
NextProtQ14692 [Medical]
TSGene9790
GENETestsBMS1
Target ValidationBMS1
Huge Navigator BMS1 [HugePedia]
snp3D : Map Gene to Disease9790
BioCentury BCIQBMS1
ClinGenBMS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9790
Chemical/Pharm GKB GenePA162377556
Clinical trialBMS1
Miscellaneous
canSAR (ICR)BMS1 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBMS1
EVEXBMS1
GoPubMedBMS1
iHOPBMS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:02:21 CEST 2017

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