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RBM15 (RNA binding motif protein 15)

Written2001-06Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Other namesOTT (one twenty-two)
HGNC (Hugo) RBM15
LocusID (NCBI) 64783
Atlas_Id 175
Location 1p13.3  [Link to chromosome band 1p13]
Location_base_pair Starts at 110881945 and ends at 110889303 bp from pter ( according to hg19-Feb_2009)  [Mapping RBM15.png]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2016)
CD8A (2p11.2) / RBM15 (1p13.3)GNB5 (15q21.2) / RBM15 (1p13.3)MKL1 (22q13.1) / RBM15 (1p13.3)
RBM15 (1p13.3) / CD8A (2p11.2)RBM15 (1p13.3) / MAL (2q11.1)RBM15 (1p13.3) / MKL1 (22q13.1)
RBM15 (1p13.3) / TIRAP (11q24.2)

DNA/RNA

Description one exon
Transcription alternate splicing; a 8.2 kb single exon transcript and a 3.9 kb transcript

Protein

Description 957 amino acids; contains 3 RNA recognition motif (RMM) consensus in NH2 term and up to amino acid 528, and a SPOC (Spen Paralog and Ortholog) domain in COOH-term
Expression wide
Homology with the Drosophila split-end (spen)

Implicated in

Note
Entity t(1;22)(p13;q13) / acute megakaryocytic leukaemia (M7 AML) --> OTT - MAL
Disease acute megakaryocytic leukaemia found in infants
Prognosis complete remission in only 50% of cases; median survival: 8 months
Cytogenetics 60% of cases have the t(1;22) as a single anomaly; the remaining cases exhibit complex and hyperploid clones
Hybrid/Mutated Gene 5' OTT - 3' MAL, comprisng most of OTT fused to most of MAL; the reciprocal 5' MAL - 3' OTT may or may not be present
Abnormal Protein includes most of OTT with the RNA recognition motifs and the SPOC domain in N-term, and most of MAL, with the scaffold attachment factor box in C-term
Oncogenesis may play a role in chromatin organization, HOX differentiation pathways, or extracellular signaling
  

Bibliography

Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia.
Mercher T, Coniat MB, Monni R, Mauchauffe M, Nguyen Khac F, Gressin L, Mugneret F, Leblanc T, Dastugue N, Berger R, Bernard OA
Proceedings of the National Academy of Sciences of the United States of America. 2001 ; 98 (10) : 5776-5779.
PMID 11344311
 

Citation

This paper should be referenced as such :
Huret, JL
OTT (one twenty-two) - RBM15 (RNA binding motif protein 15)
Atlas Genet Cytogenet Oncol Haematol. 2001;5(3):189-189.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/OTTID175.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 5 ]
  del(12)(q24q24) SETD1B/GTF2H3
inv(16)(p13q24) CBFA2T3/GLIS2
Acute megakaryoblastic leukemia (AMegL);M7 acute myeloid leukemia (M7-AML)
t(1;22)(p13;q13) RBM15/MKL1
t(11;12)(p15;p13) NUP98/KDM5A

External links

Nomenclature
HGNC (Hugo)RBM15   14959
Cards
AtlasOTTID175
Entrez_Gene (NCBI)RBM15  64783  RNA binding motif protein 15
AliasesOTT; OTT1; SPEN
GeneCards (Weizmann)RBM15
Ensembl hg19 (Hinxton)ENSG00000162775 [Gene_View]  chr1:110881945-110889303 [Contig_View]  RBM15 [Vega]
Ensembl hg38 (Hinxton)ENSG00000162775 [Gene_View]  chr1:110881945-110889303 [Contig_View]  RBM15 [Vega]
ICGC DataPortalENSG00000162775
TCGA cBioPortalRBM15
AceView (NCBI)RBM15
Genatlas (Paris)RBM15
WikiGenes64783
SOURCE (Princeton)RBM15
Genomic and cartography
GoldenPath hg19 (UCSC)RBM15  -     chr1:110881945-110889303 +  1p13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RBM15  -     1p13   [Description]    (hg38-Dec_2013)
EnsemblRBM15 - 1p13 [CytoView hg19]  RBM15 - 1p13 [CytoView hg38]
Mapping of homologs : NCBIRBM15 [Mapview hg19]  RBM15 [Mapview hg38]
OMIM606077   
Gene and transcription
Genbank (Entrez)AB209680 AF368062 AF368063 AF368064 AI863760
RefSeq transcript (Entrez)NM_001201545 NM_022768
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_032977 NW_004929290
Consensus coding sequences : CCDS (NCBI)RBM15
Cluster EST : UnigeneHs.708172 [ NCBI ]
CGAP (NCI)Hs.708172
Alternative Splicing GalleryENSG00000162775
Gene ExpressionRBM15 [ NCBI-GEO ]   RBM15 [ EBI - ARRAY_EXPRESS ]   RBM15 [ SEEK ]   RBM15 [ MEM ]
Gene Expression Viewer (FireBrowse)RBM15 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64783
GTEX Portal (Tissue expression)RBM15
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96T37 (Uniprot)
NextProtQ96T37  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96T37
Splice isoforms : SwissVarQ96T37 (Swissvar)
PhosPhoSitePlusQ96T37
Domaine pattern : Prosite (Expaxy)RRM (PS50102)    SPOC (PS50917)   
Domains : Interpro (EBI)Nucleotide-bd_a/b_plait    RRM_dom    SPOC-like_C_dom    SPOC_C    SPOC_met   
Domain families : Pfam (Sanger)RRM_1 (PF00076)    SPOC (PF07744)   
Domain families : Pfam (NCBI)pfam00076    pfam07744   
Domain families : Smart (EMBL)RRM (SM00360)  
DMDM Disease mutations64783
Blocks (Seattle)RBM15
SuperfamilyQ96T37
Human Protein AtlasENSG00000162775
Peptide AtlasQ96T37
HPRD05832
IPIIPI00102752   IPI00220716   IPI00220717   
Protein Interaction databases
DIP (DOE-UCLA)Q96T37
IntAct (EBI)Q96T37
FunCoupENSG00000162775
BioGRIDRBM15
STRING (EMBL)RBM15
ZODIACRBM15
Ontologies - Pathways
QuickGOQ96T37
Ontology : AmiGOnucleotide binding  mRNA splicing, via spliceosome  patterning of blood vessels  nucleic acid binding  protein binding  nucleoplasm  positive regulation of transcription of Notch receptor target  viral process  nuclear speck  nuclear membrane  poly(A) RNA binding  negative regulation of myeloid cell differentiation  negative regulation of transcription, DNA-templated  spleen development  ventricular septum morphogenesis  placenta blood vessel development  
Ontology : EGO-EBInucleotide binding  mRNA splicing, via spliceosome  patterning of blood vessels  nucleic acid binding  protein binding  nucleoplasm  positive regulation of transcription of Notch receptor target  viral process  nuclear speck  nuclear membrane  poly(A) RNA binding  negative regulation of myeloid cell differentiation  negative regulation of transcription, DNA-templated  spleen development  ventricular septum morphogenesis  placenta blood vessel development  
NDEx Network
Atlas of Cancer Signalling NetworkRBM15
Wikipedia pathwaysRBM15
Orthology - Evolution
OrthoDB64783
GeneTree (enSembl)ENSG00000162775
Phylogenetic Trees/Animal Genes : TreeFamRBM15
Homologs : HomoloGeneRBM15
Homology/Alignments : Family Browser (UCSC)RBM15
Gene fusions - Rearrangements
Fusion : MitelmanRBM15/MKL1 [1p13.3/22q13.1]  
Polymorphisms : SNP, variants
NCBI Variation ViewerRBM15 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RBM15
dbVarRBM15
ClinVarRBM15
1000_GenomesRBM15 
Exome Variant ServerRBM15
ExAC (Exome Aggregation Consortium)RBM15 (select the gene name)
Genetic variants : HAPMAP64783
Genomic Variants (DGV)RBM15 [DGVbeta]
Mutations
ICGC Data PortalRBM15 
TCGA Data PortalRBM15 
Broad Tumor PortalRBM15
OASIS PortalRBM15 [ Somatic mutations - Copy number]
Cancer Gene: CensusRBM15 
Somatic Mutations in Cancer : COSMICRBM15 
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 RBM15
DgiDB (Drug Gene Interaction Database)RBM15
DoCM (Curated mutations)RBM15 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RBM15 (select a term)
intoGenRBM15
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:110881945-110889303  ENSG00000162775
CONAN: Copy Number AnalysisRBM15 
Mutations and Diseases : HGMDRBM15
OMIM606077   
MedgenRBM15
Genetic Testing Registry RBM15
NextProtQ96T37 [Medical]
TSGene64783
GENETestsRBM15
Huge Navigator RBM15 [HugePedia]
snp3D : Map Gene to Disease64783
BioCentury BCIQRBM15
ClinGenRBM15
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64783
Chemical/Pharm GKB GenePA34264
Clinical trialRBM15
Miscellaneous
canSAR (ICR)RBM15 (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRBM15
EVEXRBM15
GoPubMedRBM15
iHOPRBM15
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue May 31 15:36:16 CEST 2016

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jlhuret@AtlasGeneticsOncology.org.