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    RBM17 RNA binding motif protein 17 [ Homo sapiens ]

    Gene ID: 84991, updated on 11-May-2012
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    Summary

    Official Symbol
    RBM17provided by HGNC
    Official Full Name
    RNA binding motif protein 17provided by HGNC
    Primary source
    HGNC:16944
    Locus tag
    RP11-414H17.9
    See related
    Ensembl:ENSG00000134453; HPRD:09501; MIM:606935; Vega:OTTHUMG00000017618
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPF45; MGC14439; DKFZp686F13131
    Summary
    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]
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    Genomic context

    Location :
    10p15.1
    Sequence :
    Chromosome: 10; NC_000010.10 (6130949..6159422)
    See RBM17 in Epigenomics, MapViewer

    Chromosome 10 - NC_000010.10Genomic Context describing neighboring genes Neighboring gene interleukin 2 receptor, alpha Neighboring gene ribosomal protein L32 pseudogene 23 Neighboring gene microRNA 3155a Neighboring gene microRNA mir-3155b Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 Neighboring gene syndecan binding protein (syntenin) pseudogene

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. 14-3-3 Binding to ataxin-1(ATXN1) regulates its dephosphorylation at Ser-776 and transport to the nucleus. Lai S, et al. J Biol Chem, 2011 Oct 7. PMID 21835928.
    2. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    3. Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. Jin Y, et al. N Engl J Med, 2010 May 6. PMID 20410501.
    4. Systematic analysis of human protein complexes identifies chromosome segregation proteins. Hutchins JR, et al. Science, 2010 Apr 30. PMID 20360068.
    5. System-wide changes to SUMO modifications in response to heat shock. Golebiowski F, et al. Sci Signal, 2009 May 26. PMID 19471022.

    See all (25) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. dephosphorylation of pS776-ATXN1 by PP2A regulates the interaction of ATXN1 with the splicing factors RBM17 and U2AF65
      Title: 14-3-3 Binding to ataxin-1(ATXN1) regulates its dephosphorylation at Ser-776 and transport to the nucleus.
    2. Resistance to various chemotherapeutics resulting from stable transfection of RBM17 (SPF45) in A2780 ovarian carcinoma cells may be due to effects of SPF45 on transcription and splicing of ERbeta-regulated genes.
      Title: Human splicing factor SPF45 (RBM17) confers broad multidrug resistance to anticancer drugs when overexpressed--a phenotype partially reversed by selective estrogen receptor modulators.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes.
    4. The SPF45 regulates alternative splicing of the apoptosis regulatory gene CD95; 2.1-A crystal structure of SPF45-UHM in complex with a ULM peptide from SF3b155 is reported.
      Title: U2AF-homology motif interactions are required for alternative splicing regulation by SPF45.
    5. overexpression of SPF45 in HeLa, a cervical carcinoma cell line, resulted in drug resistance to doxorubicin and vincristine
      Title: Human SPF45, a splicing factor, has limited expression in normal tissues, is overexpressed in many tumors, and can confer a multidrug-resistant phenotype to cells.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q96I25 P21673 SAT1    HPRD  PubMed  
    BioGRID:124416 BioGRID:106819 APBB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124416 BioGRID:112210 SAT1    BioGRID  PubMed Two-hybrid 
    BioGRID:124416 BioGRID:113826 SF3A2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124416 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124416 BioGRID:212207 Sf3a1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124416 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124416 BioGRID:1205541 tat    BioGRID  PubMed Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the RBM17 gene: The RBM17 gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, A.thaliana, and rice.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    • Spliceosome, organism-specific biosystem (from KEGG)
      Spliceosome, organism-specific biosystemAfter transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, th...
    • Spliceosome, conserved biosystem (from KEGG)
      Spliceosome, conserved biosystemAfter transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, th...
    • mRNA processing, organism-specific biosystem (from WikiPathways)
      mRNA processing, organism-specific biosystemThis process describes the conversion of precursor messenger RNA into mature messenger RNA (mRNA). The pre-mRNA molecule undergoes three main modifications. These modifications are 5' capping, 3' po...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    intracellular IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    spliceosomal complex IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    splicing factor 45
    Names
    splicing factor 45
    splicing factor 45kDa
    45 kDa-splicing factor
    RNA-binding motif protein 17
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001145547.1 → NP_001139019.1  splicing factor 45

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA905075, AF542550, AL157395, BC039322, CN291330
      Consensus CDS
      CCDS7077.1
      UniProtKB/TrEMBL
      Q5W009
      UniProtKB/Swiss-Prot
      Q96I25
      Related
      ENSP00000388638, ENST00000446108
      Conserved Domains (2) summary
      cd00590
      Location:319 – 386
      Blast Score: 113
      RRM; RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA ...
      cl02611
      Location:233 – 279
      Blast Score: 143
      G-patch; G-patch domain

    2. NM_032905.4 → NP_116294.1  splicing factor 45

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA905075, AF542550, AL157395, CN291330, CV570433
      Consensus CDS
      CCDS7077.1
      UniProtKB/TrEMBL
      Q5W009
      UniProtKB/Swiss-Prot
      Q96I25
      Related
      ENSP00000369218, OTTHUMP00000019034, ENST00000379888, OTTHUMT00000046635
      Conserved Domains (2) summary
      cd00590
      Location:319 – 386
      Blast Score: 113
      RRM; RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA ...
      cl02611
      Location:233 – 279
      Blast Score: 143
      G-patch; G-patch domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000010.10 Reference GRCh37.p5 Primary Assembly

      Range
      6130949..6159422
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000142.1 Alternate HuRef

      Range
      6057262..6085729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL157395.17 CAH73599.1
      CAH73600.1
      CAH73601.1
      CAH73602.1
      CAH73603.1
    genomic CH471072.2 EAW86405.1
      EAW86406.1
      EAW86407.1
      EAW86408.1
      EAW86409.1
      EAW86410.1
      EAW86411.1
    mRNA AA905075.1 None
    mRNA AF542550.1 AAQ09533.1
    mRNA AK314952.1 BAG37457.1
    mRNA BC007871.2 AAH07871.1
    mRNA BC009064.1 AAH09064.1
    mRNA BC039322.1 AAH39322.1
    mRNA BX648288.1 None
    mRNA CN291330.1 None
    mRNA CV570433.1 None
    other-genetic HQ448221.1 ADQ32701.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5W009 GenPept UniProtKB/TrEMBL:Q5W009
    Q5W010 GenPept UniProtKB/TrEMBL:Q5W010
    Q5W011 GenPept UniProtKB/TrEMBL:Q5W011
    Q5W012 GenPept UniProtKB/TrEMBL:Q5W012
    Q96I25.1 GenPept UniProtKB/Swiss-Prot:Q96I25
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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