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Aliases for RBM17 Gene

Aliases for RBM17 Gene

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

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. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. GO annotations related to this gene include nucleic acid binding and nucleotide binding.

UniProtKB/Swiss-Prot for RBM17 Gene

  • Splice factor that binds to the single-stranded 3AG 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBM17 Gene

Genomics for RBM17 Gene

Regulatory Elements for RBM17 Gene

Enhancers for RBM17 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F006128 1.5 FANTOM5 Ensembl ENCODE 13.1 +40.4 40433 2.4 HDGF ETV6 FOS CREM EGR2 ZNF263 MCM3 CBFB JUNB NR2F2 PFKFB3 RBM17 LOC399715 PRKCQ-AS1 IL15RA GC10M006129 GC10P006113
GH10F006124 1 Ensembl ENCODE 11.7 +36.5 36513 2.6 ZIC2 ZNF316 ZFHX2 POLR2A EED ETV6 NFE2 MAFK EGR2 NFE2L2 RBM17 LOC399715 PRKCQ-AS1 CALML3-AS1 GC10M006129 GC10P006113
GH10F006135 1 Ensembl ENCODE 11.6 +47.7 47701 1.4 BCOR TBP CTCF WRNIP1 CHD4 ZMYM3 RELA ADNP EED ETV6 RBM17 LOC399715 GC10M006129 LOC101928080
GH10F006086 1.6 FANTOM5 Ensembl ENCODE 4.8 -2.4 -2375 1.2 PKNOX1 ATF1 ARID4B SIN3A ZNF48 ZNF2 YY1 ZNF416 ZNF143 FOS IL2RA LOC105376384 FBXO18 CALML3-AS1 RBM17 PFKFB3 IL15RA RPL32P23
GH10F005283 1.2 Ensembl ENCODE 5.6 -804.7 -804658 2.3 HDGF PKNOX1 ATF1 YY1 ZNF766 KLF13 REST CREB3 MEF2D SSRP1 ENSG00000224034 TUBAL3 RBM17 AKR1C7P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RBM17 on UCSC Golden Path with GeneCards custom track

Promoters for RBM17 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001015923 515 2200 ARNT CREB3L1 ZFP64 ARID4B SIN3A ZNF2 YY1 CBX5 ZNF207 ZNF143

Genomic Location for RBM17 Gene

Chromosome:
10
Start:
6,088,986 bp from pter
End:
6,117,459 bp from pter
Size:
28,474 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

No data available for DME Specific Peptides for RBM17 Gene

Domains & Families for RBM17 Gene

Suggested Antigen Peptide Sequences for RBM17 Gene

Graphical View of Domain Structure for InterPro Entry

Q96I25

UniProtKB/Swiss-Prot:

SPF45_HUMAN :
  • Contains 1 G-patch domain.
Domain:
  • Contains 1 G-patch domain.
  • Contains 1 RRM (RNA recognition motif) domain.
genes like me logo Genes that share domains with RBM17: view

Function for RBM17 Gene

Molecular function for RBM17 Gene

UniProtKB/Swiss-Prot Function:
Splice factor that binds to the single-stranded 3AG 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 Ontology (GO) - Molecular Function for RBM17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
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

Animal Model Products

miRNA for RBM17 Gene

Inhibitory RNA Products

Flow Cytometry Products

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 1

Gene Ontology (GO) - Cellular Components for RBM17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005681 spliceosomal complex IEA --
GO:0043234 protein 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

Gene Ontology (GO) - Biological Process for RBM17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000380 alternative mRNA splicing, via spliceosome IMP 17589525
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with RBM17: view

No data available for SIGNOR curated interactions for RBM17 Gene

Transcripts for RBM17 Gene

Unigene Clusters for RBM17 Gene

RNA binding motif protein 17:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for RBM17 Gene



Protein tissue co-expression partners for RBM17 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RBM17 Gene:

RBM17

SOURCE GeneReport for Unigene cluster for RBM17 Gene:

Hs.498548
genes like me logo Genes that share expression patterns with RBM17: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34 35
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia RBM17 35
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RBM17 35
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RBM17 34 35
  • 91.77 (n)
dog
(Canis familiaris)
Mammalia RBM17 34 35
  • 90.94 (n)
rat
(Rattus norvegicus)
Mammalia Rbm17 34
  • 90.69 (n)
mouse
(Mus musculus)
Mammalia Rbm17 34 16 35
  • 90.36 (n)
chicken
(Gallus gallus)
Aves RBM17 34 35
  • 83.29 (n)
lizard
(Anolis carolinensis)
Reptilia RBM17 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rbm17 34
  • 77.02 (n)
Str.10970 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.11721 34
zebrafish
(Danio rerio)
Actinopterygii rbm17 34 35
  • 73.18 (n)
zgc55840 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9911 34
fruit fly
(Drosophila melanogaster)
Insecta Spf45 34 35
  • 50.48 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009296 34
  • 32.99 (n)
worm
(Caenorhabditis elegans)
Secernentea F58B3.7 34 35
  • 47.65 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons DRT111 34
  • 47.81 (n)
soybean
(Glycine max)
eudicotyledons Gma.7707 34
rice
(Oryza sativa)
Liliopsida Os01g0526100 34
  • 60 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2392 35
  • 48 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5122 34
Species where no ortholog for RBM17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

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 from dbSNP and Humsavar for RBM17 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1053169 -- 6,115,677(+) GACTT(C/T)TAAGA nc-transcript-variant, utr-variant-3-prime
rs10752205 -- 6,117,782(+) CTCCC(A/C)AAGTG downstream-variant-500B
rs10795799 -- 6,092,665(+) GTGTG(A/C)TGTTA intron-variant
rs10795823 -- 6,114,155(+) AAGAG(C/T)GTTTT intron-variant
rs10905742 -- 6,090,838(+) AGGGC(G/T)TCAGA intron-variant

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

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

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)

Relevant External Links for RBM17 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBM17

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

Disorders for RBM17 Gene

Relevant External Links for RBM17

Genetic Association Database (GAD)
RBM17
Human Genome Epidemiology (HuGE) Navigator
RBM17
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RBM17

No disorders were found for RBM17 Gene.

No data available for MalaCards , 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 M.J. … Valcarcel J. (Cell 2002) 3 4 22 64
  2. Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex. (PMID: 9731529) Neubauer G. … Mann M. (Nat. Genet. 1998) 2 3 4 64
  3. U2AF-homology motif interactions are required for alternative splicing regulation by SPF45. (PMID: 17589525) Corsini L. … Sattler M. (Nat. Struct. Mol. Biol. 2007) 3 4 64
  4. Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes. (PMID: 17676041) Lowe C.E. … Todd J.A. (Nat. Genet. 2007) 3 46 64
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64

Products for RBM17 Gene

Sources for RBM17 Gene

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