RBM15 (RNA binding motif protein 15)

2001-06-01   Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
LOCATION
1p13.3
IMAGE
Atlas Image
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
ALIAS
OTT,OTT1,SPEN
FUSION GENES

DNA/RNA

Description

one exon

Transcription

alternate splicing; a 8.2 kb single exon transcript and a 3.9 kb transcript

Proteins

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

Entity name
t(1;22)(p13;q13) / acute megakaryocytic leukaemia (M7 AML) --> RBM15 - 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 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
Fusion 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

Pubmed IDLast YearTitleAuthors
113443112001Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia.Mercher T et al

Other Information

Locus ID:

NCBI: 64783
MIM: 606077
HGNC: 14959
Ensembl: ENSG00000162775

Variants:

dbSNP: 64783
ClinVar: 64783
TCGA: ENSG00000162775
COSMIC: RBM15

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162775ENST00000369784Q96T37
ENSG00000162775ENST00000487146Q96T37
ENSG00000162775ENST00000487146A0A499FJY3
ENSG00000162775ENST00000602849Q96T37
ENSG00000162775ENST00000617047A0A087WWP4
ENSG00000162775ENST00000618772Q96T37
ENSG00000162775ENST00000650953A0A494C001
ENSG00000162775ENST00000652342Q96T37
ENSG00000162775ENST00000652747Q96T37
ENSG00000162775ENST00000654015A0A499FJY3

Expression (GTEx)

0
5
10
15
20
25

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
211067332011Kaposi's sarcoma-associated herpesvirus ORF57 interacts with cellular RNA export cofactors RBM15 and OTT3 to promote expression of viral ORF59.30
265752922015Cross-talk between PRMT1-mediated methylation and ubiquitylation on RBM15 controls RNA splicing.25
229279432012Rbm15-Mkl1 interacts with the Setd1b histone H3-Lys4 methyltransferase via a SPOC domain that is required for cytokine-independent proliferation.13
187109512008OTT-MAL is a deregulated activator of serum response factor-dependent gene expression.12
186674232008Fusion of OTT to BSAC results in aberrant up-regulation of transcriptional activity.7
254685692015Ott1 (Rbm15) regulates thrombopoietin response in hematopoietic stem cells through alternative splicing of c-Mpl.7
213704212011Acute megakaryoblastic leukemia with a four-way variant translocation originating the RBM15-MKL1 fusion gene.5
158497732005RBM15-MKL1 (OTT-MAL) fusion transcript in an adult acute myeloid leukemia patient.4
224971982012Biological effects of decreasing RBM15 on chronic myelogenous leukemia cells.2
293152892018MED12, TERT promoter and RBM15 mutations in primary and recurrent phyllodes tumours.1

Citation

Jean-Loup Huret

RBM15 (RNA binding motif protein 15)

Atlas Genet Cytogenet Oncol Haematol. 2001-06-01

Online version: http://atlasgeneticsoncology.org/gene/175/rbm15