OTT (one twenty-two)

RBM15 (RNA binding motif protein 15)

Identity

Other names	OTT (one twenty-two)
HGNC	RBM15
Location	1p13

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

Entity	t(1;22)(p13;q13) / acute megakaryocytic leukaemia (M7 ANLL) --> 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

External links

	Nomenclature
HGNC	RBM15   14959
Entrez_Gene	RBM15  64783  RNA binding motif protein 15
	Cards
Atlas	OTTID175
GeneCards	RBM15
Ensembl	RBM15 [Search_View]   ENSG00000162775 [Gene_View]
Genatlas	RBM15
GeneLynx	RBM15
eGenome	RBM15
euGene	64783
	Genomic and cartography
GoldenPath	RBM15  -  1p13   chr1:110683468-110690826 +  1p13   [Description]    (hg18-Mar_2006)
Ensembl	RBM15 - 1p13 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	RBM15
	Gene and transcription
Genbank	AB209680 [ ENTREZ ]
Genbank	AF364035 [ ENTREZ ]
Genbank	AF368062 [ ENTREZ ]
Genbank	AF368063 [ ENTREZ ]
Genbank	AF368064 [ ENTREZ ]
RefSeq	NM_022768 [ SRS ]    NM_022768 [ ENTREZ ]
RefSeq	AC_000044 [ SRS ]    AC_000044 [ ENTREZ ]
RefSeq	AC_000133 [ SRS ]    AC_000133 [ ENTREZ ]
RefSeq	NC_000001 [ SRS ]    NC_000001 [ ENTREZ ]
RefSeq	NT_019273 [ SRS ]    NT_019273 [ ENTREZ ]
RefSeq	NW_001838594 [ SRS ]    NW_001838594 [ ENTREZ ]
RefSeq	NW_922462 [ SRS ]    NW_922462 [ ENTREZ ]
AceView	RBM15 AceView - NCBI
Unigene	Hs.708172 [ SRS ]    Hs.708172 [ NCBI ]     HS708172 [ spliceNest ]
Fast-db	17015 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q3ZAU1 [ SRS]    Q3ZAU1 [ EXPASY ]     Q3ZAU1 [ INTERPRO ]     Q3ZAU1 [ UNIPROT ]
Prosite	PS50102 RRM [ SRS ]    PS50102 RRM [ Expasy ]
Prosite	PS50917 SPOC [ SRS ]    PS50917 SPOC [ Expasy ]
Interpro	IPR012677 a_b_plait_nuc_bd [ SRS ]    IPR012677 a_b_plait_nuc_bd [ EBI ]
Interpro	IPR000504 RRM_RNP1 [ SRS ]    IPR000504 RRM_RNP1 [ EBI ]
Interpro	IPR012921 SPOC [ SRS ]    IPR012921 SPOC [ EBI ]
Interpro	IPR010912 SPOC_met [ SRS ]    IPR010912 SPOC_met [ EBI ]
CluSTr	Q3ZAU1
Pfam	PF07744 SPOC [ SRS ]    PF07744 SPOC [ Sanger ]    pfam07744 [ NCBI-CDD ]
Smart	SM00360 RRM [EMBL]
Blocks	Q3ZAU1
HPRD	05832
	Protein Interaction databases
DIP	Q3ZAU1
IntAct	Q3ZAU1
	Polymorphism : SNP, mutations, diseases
OMIM	606077    [ map ]
GENECLINICS	606077
SNP	RBM15 [dbSNP-NCBI]
SNP	NM_022768 [SNP-NCI]
SNP	RBM15 [GeneSNPs - Utah]  RBM15] [HGBASE - SRS]
HAPMAP	RBM15 [HAPMAP]
COSMIC	RBM15 [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	RBM15 [Translocation breakpoints In Cancer]
HGMD	RBM15
	General knowledge
Family Browser	RBM15 [UCSC Family Browser]
SOURCE	NM_022768
SMD	Hs.708172
SAGE	Hs.708172
GO	nucleotide binding [Amigo]  nucleotide binding
GO	RNA binding [Amigo]  RNA binding
GO	nucleus [Amigo]  nucleus
GO	regulation of transcription [Amigo]  regulation of transcription
PubGene	RBM15
TreeFam	RBM15
CTD	64783 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	RBM15 Related clones (RZPD - Berlin)
	PubMed
PubMed	11 Pubmed reference(s) in Entrez

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

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	06-2001	Jean-Loup Huret

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. June 2001 . URL : http://AtlasGeneticsOncology.org/Genes/OTTID175.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Sep 29 18:43:36 2008