RBM15 Gene (Protein Coding)

RNA Binding Motif Protein 15

GC01P110338
GIFtS:
39
Members of the SPEN (Split-end) family of proteins, including RBM15, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009] See more...

Aliases for RBM15 Gene

Aliases for RBM15 Gene

  • RNA Binding Motif Protein 15 2 3 5
  • One-Twenty Two Protein 1 3 4
  • RNA-Binding Protein 15 3 4
  • One Twenty-Two 2 3
  • OTT1 3 4
  • OTT 3 4
  • Putative RNA-Binding Protein 15 3
  • RNA-Binding Motif Protein 15 4
  • One Twenty Two Protein 3
  • SPEN 3

External Ids for RBM15 Gene

Previous GeneCards Identifiers for RBM15 Gene

  • GC01P111298
  • GC01P109748
  • GC01P109983
  • GC01P110179
  • GC01P110180
  • GC01P110593
  • GC01P110682
  • GC01P110876
  • GC01P108753
  • GC01P110882

Summaries for RBM15 Gene

Entrez Gene Summary for RBM15 Gene

  • Members of the SPEN (Split-end) family of proteins, including RBM15, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]

GeneCards Summary for RBM15 Gene

RBM15 (RNA Binding Motif Protein 15) is a Protein Coding gene. Diseases associated with RBM15 include Megakaryoblastic Acute Myeloid Leukemia With T(1;22)(P13;Q13) and Megakaryocytic Leukemia. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is RBM15B.

UniProtKB/Swiss-Prot Summary for RBM15 Gene

  • RNA-binding protein that acts as a key regulator of N6-methyladenosine (m6A) methylation of RNAs, thereby regulating different processes, such as hematopoietic cell homeostasis, alternative splicing of mRNAs and X chromosome inactivation mediated by Xist RNA (PubMed:27602518). Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (By similarity). Plays a key role in m6A methylation, possibly by binding target RNAs and recruiting the WMM complex (PubMed:27602518). Involved in random X inactivation mediated by Xist RNA: acts by binding Xist RNA and recruiting the WMM complex, which mediates m6A methylation, leading to target YTHDC1 reader on Xist RNA and promoting transcription repression activity of Xist (PubMed:27602518). Required for the development of multiple tissues, such as the maintenance of the homeostasis of long-term hematopoietic stem cells and for megakaryocyte (MK) and B-cell differentiation (By similarity). Regulates megakaryocyte differentiation by regulating alternative splicing of genes important for megakaryocyte differentiation; probably regulates alternative splicing via m6A regulation (PubMed:26575292). Required for placental vascular branching morphogenesis and embryonic development of the heart and spleen (By similarity). Acts as a regulator of thrombopoietin response in hematopoietic stem cells by regulating alternative splicing of MPL (By similarity). May also function as an mRNA export factor, stimulating export and expression of RTE-containing mRNAs which are present in many retrotransposons that require to be exported prior to splicing (PubMed:17001072, PubMed:19786495). High affinity binding of pre-mRNA to RBM15 may allow targeting of the mRNP to the export helicase DBP5 in a manner that is independent of splicing-mediated NXF1 deposition, resulting in export prior to splicing (PubMed:17001072, PubMed:19786495). May be implicated in HOX gene regulation (PubMed:11344311).

Gene Wiki entry for RBM15 Gene

Additional gene information for RBM15 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RBM15 Gene

Genomics for RBM15 Gene

GeneHancer (GH) Regulatory Elements for RBM15 Gene

Promoters and enhancers for RBM15 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RBM15 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RBM15 gene promoter:
  • C/EBPalpha
  • Egr-1
  • Egr-2
  • Egr-3
  • Ik-2
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • SRY
  • TBP

Genomic Locations for RBM15 Gene

Genomic Locations for RBM15 Gene
chr1:110,338,426-110,373,218
(GRCh38/hg38)
Size:
34,793 bases
Orientation:
Plus strand
chr1:110,881,128-110,889,303
(GRCh37/hg19)
Size:
8,176 bases
Orientation:
Plus strand

Genomic View for RBM15 Gene

Genes around RBM15 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBM15 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBM15 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RBM15 Gene

Proteins for RBM15 Gene

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  • Protein details for RBM15 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96T37-RBM15_HUMAN
    Recommended name:
    RNA-binding protein 15
    Protein Accession:
    Q96T37
    Secondary Accessions:
    • A1A693
    • Q3ZB86
    • Q4V760
    • Q5D058
    • Q5T613
    • Q86VW9
    • Q96PE4
    • Q96SC5
    • Q96SC6
    • Q96SC9
    • Q96SD0
    • Q96T38
    • Q9BRA5
    • Q9H6R8
    • Q9H9Y0

    Protein attributes for RBM15 Gene

    Size:
    977 amino acids
    Molecular mass:
    107189 Da
    Quaternary structure:
    • Component of the WMM complex, a N6-methyltransferase complex composed of a catalytic subcomplex, named MAC, and of an associated subcomplex, named MACOM (PubMed:27602518). The MAC subcomplex is composed of METTL3 and METTL14 (PubMed:27602518). The MACOM subcomplex is composed of WTAP, ZC3H13, CBLL1/HAKAI, VIRMA, and, in some cases of RBM15 (RBM15 or RBM15B) (PubMed:27602518). Also component of a MACOM-like complex, named WTAP complex, composed of WTAP, ZC3H13, CBLL1, VIRMA, RBM15, BCLAF1 and THRAP3 (PubMed:24100041). Interacts with RBPJ (By similarity). Interacts (via SPOC domain) with SETD1B (PubMed:22927943). Interacts with NXF1, the interaction is required to promote mRNA export (PubMed:17001072). Interacts with SF3B1 (PubMed:26575292).
    • (Microbial infection) Interacts with Epstein-Barr virus BSFL2/BMLF1.
    SequenceCaution:
    • Sequence=BAB14088.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15185.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for RBM15 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBM15 Gene

Protein Expression for RBM15 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RBM15 Gene

  • Methylated at Arg-578 by PRMT1, leading to promote ubiquitination by CNOT4 and subsequent degradation by the proteasome.
  • Ubiquitinated by CNOT4 following methylation at Arg-578 by PRMT1.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RBM15 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RBM15 Gene

Domains & Families for RBM15 Gene

Gene Families for RBM15 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for RBM15 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RBM15 Gene

GenScript: Design optimal peptide antigens:
  • RNA binding motif protein 15 isoform L2 (A1A693_HUMAN)
  • RBM15 protein (Q3ZB86_HUMAN)
  • RBM15 protein (Q86VW9_HUMAN)
  • RNA-binding motif protein 15 (RBM15_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96T37

UniProtKB/Swiss-Prot:

RBM15_HUMAN :
  • Belongs to the RRM Spen family.
Family:
  • Belongs to the RRM Spen family.
genes like me logo Genes that share domains with RBM15: view

Function for RBM15 Gene

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Molecular function for RBM15 Gene

UniProtKB/Swiss-Prot Function:
RNA-binding protein that acts as a key regulator of N6-methyladenosine (m6A) methylation of RNAs, thereby regulating different processes, such as hematopoietic cell homeostasis, alternative splicing of mRNAs and X chromosome inactivation mediated by Xist RNA (PubMed:27602518). Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (By similarity). Plays a key role in m6A methylation, possibly by binding target RNAs and recruiting the WMM complex (PubMed:27602518). Involved in random X inactivation mediated by Xist RNA: acts by binding Xist RNA and recruiting the WMM complex, which mediates m6A methylation, leading to target YTHDC1 reader on Xist RNA and promoting transcription repression activity of Xist (PubMed:27602518). Required for the development of multiple tissues, such as the maintenance of the homeostasis of long-term hematopoietic stem cells and for megakaryocyte (MK) and B-cell differentiation (By similarity). Regulates megakaryocyte differentiation by regulating alternative splicing of genes important for megakaryocyte differentiation; probably regulates alternative splicing via m6A regulation (PubMed:26575292). Required for placental vascular branching morphogenesis and embryonic development of the heart and spleen (By similarity). Acts as a regulator of thrombopoietin response in hematopoietic stem cells by regulating alternative splicing of MPL (By similarity). May also function as an mRNA export factor, stimulating export and expression of RTE-containing mRNAs which are present in many retrotransposons that require to be exported prior to splicing (PubMed:17001072, PubMed:19786495). High affinity binding of pre-mRNA to RBM15 may allow targeting of the mRNP to the export helicase DBP5 in a manner that is independent of splicing-mediated NXF1 deposition, resulting in export prior to splicing (PubMed:17001072, PubMed:19786495). May be implicated in HOX gene regulation (PubMed:11344311).

Phenotypes From GWAS Catalog for RBM15 Gene

Gene Ontology (GO) - Molecular Function for RBM15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,IDA 27602518
GO:0003729 mRNA binding IDA 26575292
GO:0005515 protein binding IPI 16129689
genes like me logo Genes that share ontologies with RBM15: view
genes like me logo Genes that share phenotypes with RBM15: view

Animal Models for RBM15 Gene

MGI Knock Outs for RBM15:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBM15

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RBM15 Gene

Localization for RBM15 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBM15 Gene

Nucleus speckle. Nucleus, nucleoplasm. Nucleus envelope. Nucleus membrane; Peripheral membrane protein. Note=Colocalizes at the nuclear pore with DBP5 and NXF1. {ECO:0000269 PubMed:19786495}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RBM15 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RBM15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005635 nuclear envelope IEA --
GO:0005654 nucleoplasm IDA,IEA 24100041
GO:0016020 membrane IEA --
GO:0016607 nuclear speck IEA,IDA 24100041
genes like me logo Genes that share ontologies with RBM15: view

Pathways & Interactions for RBM15 Gene

PathCards logo

SuperPathways for RBM15 Gene

No Data Available

SIGNOR curated interactions for RBM15 Gene

Activates:

Gene Ontology (GO) - Biological Process for RBM15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IDA 26575292
GO:0001510 RNA methylation IDA 27602518
GO:0001569 branching involved in blood vessel morphogenesis IEA --
GO:0007221 positive regulation of transcription of Notch receptor target IEA --
GO:0009048 dosage compensation by inactivation of X chromosome IDA 27602518
genes like me logo Genes that share ontologies with RBM15: view

No data available for Pathways by source for RBM15 Gene

Drugs & Compounds for RBM15 Gene

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  1. Drug
No Compound Related Data Available

Transcripts for RBM15 Gene

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mRNA/cDNA for RBM15 Gene

(2) REFSEQ mRNAs :
(21) Additional mRNA sequences :
(60) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBM15

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RBM15 Gene

No ASD Table

Relevant External Links for RBM15 Gene

GeneLoc Exon Structure for
RBM15
ECgene alternative splicing isoforms for
RBM15

Expression for RBM15 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RBM15 Gene

mRNA expression in normal human tissues for RBM15 Gene
mRNA expression by GTEx for RBM15 GenemRNA expression by BioGPS for RBM15 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RBM15 Gene

This gene is overexpressed in Cerebrospinal fluid (33.9) and Peripheral blood mononuclear cells (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RBM15 Gene



Protein tissue co-expression partners for RBM15 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RBM15 Gene:

RBM15

SOURCE GeneReport for Unigene cluster for RBM15 Gene:

Hs.435947

Evidence on tissue expression from TISSUES for RBM15 Gene

  • Liver(4.2)
  • Nervous system(2.8)
  • Blood(2.4)
  • Bone marrow(2.4)
genes like me logo Genes that share expression patterns with RBM15: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RBM15 Gene

Orthologs for RBM15 Gene

This gene was present in the common ancestor of animals.

Orthologs for RBM15 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia RBM15 33 32
  • 98.9 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia RBM15 33 32
  • 93.37 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia RBM15 33 32
  • 91.76 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Rbm15 32
  • 90.9 (n)
mouse
(Mus musculus)
 Mammalia Rbm15 17 33 32
  • 90.31 (n)
oppossum
(Monodelphis domestica)
 Mammalia RBM15 33
  • 82 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia RBM15 33
  • 76 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves LOC100859595 32
  • 73.04 (n)
RBM15 33
  • 69 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia rbm15 32
  • 63.77 (n)
Str.7059 32
African clawed frog
(Xenopus laevis)
 Amphibia Xl.19505 32
zebrafish
(Danio rerio)
 Actinopterygii rbm15 33 32
  • 62.45 (n)
 OneToOne
Dr.15490 32
fruit fly
(Drosophila melanogaster)
 Insecta nito 33
  • 36 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea grld-1 33
  • 27 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 30 (a)
 OneToMany
Species where no ortholog for RBM15 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RBM15 Gene

ENSEMBL:
Gene Tree for RBM15 (if available)
TreeFam:
Gene Tree for RBM15 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RBM15: view image

Paralogs for RBM15 Gene

Paralogs for RBM15 Gene

(1) SIMAP similar genes for RBM15 Gene using alignment to 1 proteins:

  • RBM15_HUMAN

Pseudogenes.org Pseudogenes for RBM15 Gene

genes like me logo Genes that share paralogs with RBM15: view

Variants for RBM15 Gene

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Sequence variations from dbSNP and Humsavar for RBM15 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1553224979 other, Neuroblastoma 110,341,317(+) C/A coding_sequence_variant, missense_variant
rs1000282838 -- 110,338,407(+) C/T upstream_transcript_variant
rs1000360362 -- 110,345,744(+) T/A intron_variant
rs1000370437 -- 110,345,274(+) T/C intron_variant
rs1000477129 -- 110,338,279(+) G/C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RBM15 Gene

Variant ID Type Subtype PubMed ID
nsv946137 CNV duplication 23825009

Variation tolerance for RBM15 Gene

Residual Variation Intolerance Score: 3.29% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.87; 48.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RBM15 Gene

Human Gene Mutation Database (HGMD)
RBM15
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBM15

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBM15 Gene

Disorders for RBM15 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RBM15 Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
  • megakaryoblastic aml with t(1;22)(p13;q13)
megakaryocytic leukemia
  • acute megakaryoblastic leukaemia, fab m7
- elite association - COSMIC cancer census association via MalaCards
Search RBM15 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RBM15_HUMAN
  • Note=A chromosomal aberration involving RBM15 may be a cause of acute megakaryoblastic leukemia. Translocation t(1;22)(p13;q13) with MKL1. Although both reciprocal fusion transcripts are detected in acute megakaryoblastic leukemia (AMKL, FAB-M7), the RBM15-MKL1 chimeric protein has all the putative functional domains encoded by each gene and is the candidate oncogene. {ECO:0000269 PubMed:11344311, ECO:0000269 PubMed:11431691}.

Additional Disease Information for RBM15

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RBM15: view

No data available for Genatlas for RBM15 Gene

Publications for RBM15 Gene

  1. Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. (PMID: 11431691) Ma Z … Hitzler JK (Nature genetics 2001) 2 3 4 23 56
  2. The RNA-binding motif protein 15B (RBM15B/OTT3) acts as cofactor of the nuclear export receptor NXF1. (PMID: 19586903) Uranishi H … Felber BK (The Journal of biological chemistry 2009) 3 4 23 56
  3. Interaction of the Epstein-Barr virus mRNA export factor EB2 with human Spen proteins SHARP, OTT1, and a novel member of the family, OTT3, links Spen proteins with splicing regulation and mRNA export. (PMID: 16129689) Hiriart E … Manet E (The Journal of biological chemistry 2005) 3 4 23 56
  4. Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia. (PMID: 11344311) Mercher T … Bernard OA (Proceedings of the National Academy of Sciences of the United States of America 2001) 2 3 4 56
  5. m(6)A RNA methylation promotes XIST-mediated transcriptional repression. (PMID: 27602518) Patil DP … Jaffrey SR (Nature 2016) 3 4 56

ExternalLinks

View latest publications for RBM15 gene in Mastermind

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