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Aliases for RBM17 Gene

Aliases for RBM17 Gene

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

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. 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

Promoters for RBM17 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RBM17 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for RBM17 Gene at MOPED

Post-translational modifications for RBM17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RBM17 Gene

Antibody Products

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 --
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

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
Jensen Localization Image for RBM17 Gene COMPARTMENTS Subcellular localization image for RBM17 gene
Compartment Confidence
nucleus 5
cytosol 1

No data available for Gene Ontology (GO) - Cellular Components for RBM17 Gene

Pathways & Interactions for RBM17 Gene

SuperPathways for RBM17 Gene

Superpath Contained pathways
1 mRNA Splicing - Major Pathway
genes like me logo Genes that share pathways with RBM17: view

Pathways by source for RBM17 Gene

1 BioSystems pathway for RBM17 Gene
1 KEGG pathway for RBM17 Gene

Gene Ontology (GO) - Biological Process for RBM17 Gene

None

No data available for SIGNOR curated interactions for RBM17 Gene

Drugs & Compounds for RBM17 Gene

No Compound Related Data Available

Transcripts for RBM17 Gene

Unigene Clusters for RBM17 Gene

RNA binding motif protein 17:
Representative Sequences:

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 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, MOPED, and MaxQB for RBM17 Gene



SOURCE GeneReport for Unigene cluster for RBM17 Gene Hs.498548

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

Protein tissue co-expression partners for RBM17 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia RBM17 35
  • 91.77 (n)
  • 99 (a)
RBM17 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RBM17 35
  • 90.94 (n)
  • 99.25 (a)
RBM17 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rbm17 35
  • 90.36 (n)
  • 99.25 (a)
Rbm17 16
Rbm17 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RBM17 35
  • 100 (n)
  • 100 (a)
RBM17 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rbm17 35
  • 90.69 (n)
  • 99.5 (a)
oppossum
(Monodelphis domestica)
Mammalia RBM17 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RBM17 36
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBM17 35
  • 83.29 (n)
  • 95.76 (a)
RBM17 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RBM17 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rbm17 35
  • 77.02 (n)
  • 87.12 (a)
Str.10970 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.11721 35
zebrafish
(Danio rerio)
Actinopterygii rbm17 35
  • 73.18 (n)
  • 84.26 (a)
zgc55840 35
rbm17 36
  • 79 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9911 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009296 35
  • 32.99 (n)
  • 20.52 (a)
fruit fly
(Drosophila melanogaster)
Insecta Spf45 35
  • 50.48 (n)
  • 47.11 (a)
Spf45 36
  • 38 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F58B3.7 35
  • 47.65 (n)
  • 39.81 (a)
F58B3.7 36
  • 36 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons DRT111 35
  • 47.81 (n)
  • 41.98 (a)
soybean
(Glycine max)
eudicotyledons Gma.7707 35
rice
(Oryza sativa)
Liliopsida Os01g0526100 35
  • 60 (n)
  • 58.75 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5122 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2392 36
  • 48 (a)
OneToOne
Species with no ortholog for RBM17:
  • 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

Pseudogenes.org Pseudogenes 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
rs8463 -- 6,116,449(+) TGCCA(A/G)TAGAA utr-variant-3-prime
rs1053169 -- 6,115,677(+) GACTT(C/T)TAAGA utr-variant-3-prime
rs1571025 -- 6,092,906(+) TCTGA(A/G)ACTTT intron-variant
rs1571026 -- 6,093,062(+) GCAGC(G/T)GAGAT intron-variant
rs2067567 -- 6,109,059(-) AAACT(G/T)TAACG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1e49 CNV Loss 18971310
nsv894815 CNV Gain 21882294
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)

Relevant External Links for RBM17 Gene

HapMap Linkage Disequilibrium report
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. 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 67
  2. Human splicing factor SPF45 (RBM17) confers broad multidrug resistance to anticancer drugs when overexpressed--a phenotype partially reversed by selective estrogen receptor modulators. (PMID: 16061639) Perry W.L. … Dantzig A.H. (Cancer Res. 2005) 3 23
  3. 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 23
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for RBM17 Gene

Sources for RBM17 Gene

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