This gene encodes an RNA binding protein. The encoded protein is part of the spliceosome complex and functions in the second catalytic step of mRNA splicing. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 9 and 15. [provided by RefSeq, Mar 2009] See more...

Aliases for RBM17 Gene

Aliases for RBM17 Gene

  • RNA Binding Motif Protein 17 2 3 5
  • SPF45 2 3 4
  • 45 KDa-Splicing Factor 3 4
  • Splicing Factor 45kDa 2 3
  • Splicing Factor 45 3 4
  • RNA-Binding Motif Protein 17 4
  • MGC14439 2
  • RBM17 5

External Ids for RBM17 Gene

Previous GeneCards Identifiers for RBM17 Gene

  • GC10P006135
  • GC10P006171
  • GC10P006057
  • GC10P006130

Summaries for RBM17 Gene

Entrez Gene Summary for RBM17 Gene

  • This gene encodes an RNA binding protein. The encoded protein is part of the spliceosome complex and functions in the second catalytic step of mRNA splicing. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 9 and 15. [provided by RefSeq, Mar 2009]

GeneCards Summary for RBM17 Gene

RBM17 (RNA Binding Motif Protein 17) is a Protein Coding gene. Diseases associated with RBM17 include Spinocerebellar Ataxia 1 and Dentatorubral-Pallidoluysian Atrophy. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding.

UniProtKB/Swiss-Prot Summary for RBM17 Gene

  • Splice factor that binds to the single-stranded 3'AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia.

Gene Wiki entry for RBM17 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RBM17 Gene

Genomics for RBM17 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RBM17 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 RBM17 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RBM17

Top Transcription factor binding sites by QIAGEN in the RBM17 gene promoter:
  • AML1a
  • GATA-1
  • ITF-2
  • p53
  • Tal-1beta

Genomic Locations for RBM17 Gene

Latest Assembly
chr10:6,089,034-6,117,457
(GRCh38/hg38)
Size:
28,424 bases
Orientation:
Plus strand

Previous Assembly
chr10:6,130,997-6,159,410
(GRCh37/hg19 by Entrez Gene)
Size:
28,414 bases
Orientation:
Plus strand

chr10:6,130,950-6,159,420
(GRCh37/hg19 by Ensembl)
Size:
28,471 bases
Orientation:
Plus strand

Genomic View for RBM17 Gene

Genes around RBM17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBM17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBM17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBM17 Gene

Proteins for RBM17 Gene

  • Protein details for RBM17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96I25-SPF45_HUMAN
    Recommended name:
    Splicing factor 45
    Protein Accession:
    Q96I25
    Secondary Accessions:
    • Q96GY6

    Protein attributes for RBM17 Gene

    Size:
    401 amino acids
    Molecular mass:
    44962 Da
    Quaternary structure:
    • Binds SXL. Associates with the spliceosome. Interacts with SF3B1, SF1 and U2AF2.

    Three dimensional structures from OCA and Proteopedia for RBM17 Gene

neXtProt entry for RBM17 Gene

Post-translational modifications for RBM17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RBM17 Gene

Antibodies for research

  • Abcam antibodies for RBM17
  • Boster Bio Antibodies for RBM17
  • Santa Cruz Biotechnology (SCBT) Antibodies for RBM17

No data available for DME Specific Peptides for RBM17 Gene

Domains & Families for RBM17 Gene

Gene Families for RBM17 Gene

Protein Domains for RBM17 Gene

InterPro:
Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
  • D111/G-patch domain

Suggested Antigen Peptide Sequences for RBM17 Gene

GenScript: Design optimal peptide antigens:
  • RNA binding motif protein 17 (Q5W008_HUMAN)
  • cDNA, FLJ95864 (Q5W009_HUMAN)
  • RNA-binding motif protein 17 (SPF45_HUMAN)
genes like me logo Genes that share domains with RBM17: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RBM17 Gene

Function for RBM17 Gene

Molecular function for RBM17 Gene

UniProtKB/Swiss-Prot Function:
Splice factor that binds to the single-stranded 3'AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia.

Phenotypes From GWAS Catalog for RBM17 Gene

Gene Ontology (GO) - Molecular Function for RBM17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with RBM17: view
genes like me logo Genes that share phenotypes with RBM17: view

miRNA for RBM17 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBM17

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RBM17 Gene

Localization for RBM17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBM17 Gene

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 RBM17 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RBM17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
GO:0032991 protein-containing complex IEA --
genes like me logo Genes that share ontologies with RBM17: view

Pathways & Interactions for RBM17 Gene

genes like me logo Genes that share pathways with RBM17: view

Pathways by source for RBM17 Gene

1 KEGG pathway for RBM17 Gene

SIGNOR curated interactions for RBM17 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for RBM17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000380 alternative mRNA splicing, via spliceosome IBA,IMP 17589525
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IBA --
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006281 DNA repair IBA --
GO:0006397 mRNA processing IEA --
genes like me logo Genes that share ontologies with RBM17: view

Drugs & Compounds for RBM17 Gene

No Compound Related Data Available

Transcripts for RBM17 Gene

mRNA/cDNA for RBM17 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBM17

Alternative Splicing Database (ASD) splice patterns (SP) for RBM17 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b ·
SP1: - - - - - - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - -
SP4: - - - -
SP5: - - - - - - -
SP6: - - -
SP7: - -
SP8: - - -
SP9: -
SP10:
SP11:
SP12: -
SP13:

ExUns: 13c · 13d ^ 14
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:
SP13: -

Relevant External Links for RBM17 Gene

GeneLoc Exon Structure for
RBM17

Expression for RBM17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RBM17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RBM17 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RBM17 Gene



Protein tissue co-expression partners for RBM17 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RBM17

SOURCE GeneReport for Unigene cluster for RBM17 Gene:

Hs.498548

Evidence on tissue expression from TISSUES for RBM17 Gene

  • Liver(4.4)
  • Blood(4.4)
  • Eye(4.4)
  • Nervous system(3.5)
  • Intestine(2.4)
  • Muscle(2.4)
  • Kidney(2.4)
  • Heart(2.3)
  • Skin(2.3)
  • Lung(2.2)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with RBM17: 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 RBM17 Gene

Orthologs for RBM17 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RBM17 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RBM17 29 30
  • 100 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RBM17 30
  • 98 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RBM17 30
  • 96 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia RBM17 29 30
  • 91.77 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RBM17 29 30
  • 90.94 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rbm17 29
  • 90.69 (n)
Mouse
(Mus musculus)
Mammalia Rbm17 29 16 30
  • 90.36 (n)
OneToOne
Chicken
(Gallus gallus)
Aves RBM17 29 30
  • 83.29 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RBM17 30
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rbm17 29
  • 77.02 (n)
Str.10970 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.11721 29
Zebrafish
(Danio rerio)
Actinopterygii rbm17 29 30
  • 73.18 (n)
OneToOne
zgc55840 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9911 29
Fruit Fly
(Drosophila melanogaster)
Insecta Spf45 29 30
  • 50.48 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009296 29
  • 32.99 (n)
Worm
(Caenorhabditis elegans)
Secernentea F58B3.7 29 30
  • 47.65 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons DRT111 29
  • 47.81 (n)
Soybean
(Glycine max)
eudicotyledons Gma.7707 29
Rice
(Oryza sativa)
Liliopsida Os01g0526100 29
  • 60 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2392 30
  • 48 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5122 29
Species where no ortholog for RBM17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RBM17 Gene

ENSEMBL:
Gene Tree for RBM17 (if available)
TreeFam:
Gene Tree for RBM17 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RBM17: view image
Alliance of Genome Resources:
Additional Orthologs for RBM17

Paralogs for RBM17 Gene

genes like me logo Genes that share paralogs with RBM17: view

No data available for Paralogs for RBM17 Gene

Variants for RBM17 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RBM17 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs12242912 Benign: not provided 6,112,345(+) C/T
NM_032905.5(RBM17):c.840C>T (p.Gly280=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RBM17 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RBM17 Gene

Variant ID Type Subtype PubMed ID
dgv1e49 CNV loss 18971310
esv3622241 CNV gain 21293372
nsv1040397 CNV loss 25217958
nsv5665 CNV insertion 18451855
nsv819453 CNV loss 19587683

Variation tolerance for RBM17 Gene

Residual Variation Intolerance Score: 16.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.04; 0.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RBM17 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBM17
Leiden Open Variation Database (LOVD)
RBM17

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBM17 Gene

Disorders for RBM17 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RBM17 Gene - From: COP

Disorder Aliases PubMed IDs
spinocerebellar ataxia 1
  • sca1
dentatorubral-pallidoluysian atrophy
  • drpla
autosomal dominant cerebellar ataxia
  • spinocerebellar ataxia
- elite association - COSMIC cancer census association via MalaCards
Search RBM17 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RBM17

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RBM17: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RBM17 Gene

Publications for RBM17 Gene

  1. Splicing regulation at the second catalytic step by Sex-lethal involves 3' splice site recognition by SPF45. (PMID: 12015979) Lallena MJ … Valcárcel J (Cell 2002) 3 4 22
  2. Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex. (PMID: 9731529) Neubauer G … Mann M (Nature genetics 1998) 2 3 4
  3. Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes. (PMID: 17676041) Lowe CE … Todd JA (Nature genetics 2007) 3 40
  4. U2AF-homology motif interactions are required for alternative splicing regulation by SPF45. (PMID: 17589525) Corsini L … Sattler M (Nature structural & molecular biology 2007) 3 4
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4

Products for RBM17 Gene

Sources for RBM17 Gene