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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RTF1 Gene

protein-coding   GIFtS: 53
GCID: GC15P041709

Rtf1, Paf1/RNA Polymerase II Complex Component, Homolog...

(Previous name: KIAA0252)
(Previous symbol: KIAA0252)
Microbiology & Infectious Diseases Congress
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Rtf1, Paf1/RNA Polymerase II Complex Component, Homolog (S.
Cerevisiae)1 2
KIAA02521 2 3 5
GTL72
Ortholog Of Mouse Gene Trap Locus 72
RNA Polymerase-Associated Protein RTF1 Homolog2

External Ids:    HGNC: 289961   Entrez Gene: 231682   Ensembl: ENSG000001378157   OMIM: 6116335   UniProtKB: Q925413   

Export aliases for RTF1 gene to outside databases

Previous GC identifers: GC15P039497 GC15P018557


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RTF1 Gene:
This locus may represent a gene involved in regulation of transcription elongation and chromatin remodeling, based
on studies of similar proteins in other organisms. The encoded protein may bind single-stranded DNA. (provided by
RefSeq, Sep 2010)

GeneCards Summary for RTF1 Gene: 
RTF1 (Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)) is a protein-coding gene. Diseases associated with RTF1 include influenza. GO annotations related to this gene include protein binding and single-stranded DNA binding.

UniProtKB/Swiss-Prot: RTF1_HUMAN, Q92541
Function: Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA
polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency.
PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and
'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and
synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for
transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional
activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins,
such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as
ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3
ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination
of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to
transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A)
factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby
regulating gene transcription. Binds single-stranded DNA. Required for maximal induction of heat-shock genes.
Required for the trimethylation of histone H3 'Lys-4' (H3K4me3) on genes involved in stem cell pluripotency; this
function is synergistic with CXXC1 indicative for an involvement of a SET1 complex (By similarity)

Gene Wiki entry for RTF1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.2  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RTF1 gene promoter:
         HOXA9B   HOXA9   NF-1   p53   GATA-1   SRY   E2F-1   E2F   Nkx6-1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRTF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RTF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RTF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q15.1   Ensembl cytogenetic band:  15q15.1   HGNC cytogenetic band: 15q14

RTF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RTF1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P041709:  view genomic region     (about GC identifiers)

Start:
41,700,606 bp from pter      End:
41,775,761 bp from pter
Size:
75,156 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RTF1_HUMAN, Q92541 (See protein sequence)
Recommended Name: RNA polymerase-associated protein RTF1 homolog  
Size: 710 amino acids; 80313 Da
Subunit: Component of the PAF1 complex, which consists of CDC73, PAF1, LEO1, CTR9, RTF1 and WDR61; the association
of RTF1 appears to be less stable than that of other subunits. At least in HeLa cells a N-terminal shorter form
of RTF1 is also found in the complex
Subcellular location: Nucleus, nucleoplasm (By similarity)
Caution: It is uncertain whether Met-1 or Met-41 is the initiator
Sequence caution: Sequence=AAH15052.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA13382.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
3 PDB 3D structures from and Proteopedia for RTF1:
2BZE (3D)        2DB9 (3D)        3U1U (3D)    
Secondary accessions: Q96BX6

Explore the universe of human proteins at neXtProt for RTF1: NX_Q92541

Explore proteomics data for RTF1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92541

  • RTF1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RTF1 Protein Expression
    REFSEQ proteins: NP_055953.3  
    ENSEMBL proteins: 
     ENSP00000374280   ENSP00000452973  

    Human Recombinant Protein Products for RTF1: 
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    Novus Biologicals RTF1 Lysate
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RTF1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005730nucleolus IEA--
    GO:0016593Cdc73/Paf1 complex IDA--

    RTF1 for ontologies           About GeneDecksing



    RTF1 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for RTF1 
    Cloud-Clone Corp. CLIAs for RTF1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR018144 Plus3-dom_subgr
     IPR004343 Plus-3

    Graphical View of Domain Structure for InterPro Entry Q92541

    ProtoNet protein and cluster: Q92541

    UniProtKB/Swiss-Prot: RTF1_HUMAN, Q92541
    Domain: The Plus3 domain mediates single-stranded DNA-binding
    Similarity: Contains 1 Plus3 domain


    RTF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RTF1_HUMAN, Q92541
    Function: Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA
    polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency.
    PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and
    'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and
    synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for
    transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional
    activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins,
    such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as
    ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3
    ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination
    of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to
    transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A)
    factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby
    regulating gene transcription. Binds single-stranded DNA. Required for maximal induction of heat-shock genes.
    Required for the trimethylation of histone H3 'Lys-4' (H3K4me3) on genes involved in stem cell pluripotency; this
    function is synergistic with CXXC1 indicative for an involvement of a SET1 complex (By similarity)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003697single-stranded DNA binding IDA18184592
    GO:0005515protein binding IPI15923622
         
    RTF1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for RTF1:
     Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rtf1):
     mortality/aging  skeleton 

    RTF1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for RTF1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RTF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RTF1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RTF1 

    miRNA
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    hsa-miR-3678-3p hsa-miR-607 hsa-miR-15a hsa-miR-3653 hsa-miR-578 hsa-miR-759 hsa-miR-4267 hsa-miR-3622b-3p
    SwitchGear 3'UTR luciferase reporter plasmidRTF1 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RTF1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RTF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/42 Interacting proteins for RTF1 (Q925411, 2, 3 ENSP000003742804) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDC73Q6P1J91, 3, ENSP000003564054EBI-1055239,EBI-930143 I2D: score=2 STRING: ENSP00000356405
    PAF1Q8N7H51, 3, ENSP000002212654EBI-1055239,EBI-2607770 I2D: score=2 STRING: ENSP00000221265
    CTR9Q6PD623, ENSP000003550134I2D: score=2 STRING: ENSP00000355013
    PEX2P283283, ENSP000003495434I2D: score=1 STRING: ENSP00000349543
    UBE2BP631463, ENSP000002653394I2D: score=1 STRING: ENSP00000265339
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0001711endodermal cell fate commitment ISS--
    GO:0006352DNA-dependent transcription, initiation IEA--
    GO:0016055Wnt receptor signaling pathway IEA--
    GO:0016570histone modification ----

    RTF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RTF1

    Search CenterWatch for drugs/clinical trials and news about RTF1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RTF1 gene: 
    NM_015138.4  

    Unigene Cluster for RTF1:

    Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)
    Hs.511096  [show with all ESTs]
    Unigene Representative Sequence: NM_015138
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000558298 ENST00000389629(uc001zny.3) ENST00000462276 ENST00000473214
    ENST00000560447 ENST00000558117 ENST00000561076
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
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    8/75 QIAGEN miScript miRNA Assays for microRNAs that regulate RTF1 (see all 75):
    hsa-miR-3678-3p hsa-miR-607 hsa-miR-15a hsa-miR-3653 hsa-miR-578 hsa-miR-759 hsa-miR-4267 hsa-miR-3622b-3p
    SwitchGear 3'UTR luciferase reporter plasmidRTF1 3' UTR sequence
    Inhib. RNA
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    Clone
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    OriGene ORF clones in mouse, rat for RTF1
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                         Customized lentivirus expression plasmids for stable overexpression of RTF1 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RTF1

    Additional mRNA sequence: 

    AK292302.1 BC015052.2 D87440.2 

    14 DOTS entries:

    DT.92324077  DT.101962213  DT.92460817  DT.95336847  DT.86847965  DT.121065546  DT.65287624  DT.97831777 
    DT.121065495  DT.121065513  DT.40133464  DT.92414999  DT.95177487  DT.121065510 

    24/311 AceView cDNA sequences (see all 311):

    D87440 AI219920 AI638653 T25732 BF194921 AI631580 BU430539 AA504808 
    AI457414 AI753190 BF437118 AW025967 BF795182 BU743291 BE794047 AA666296 
    BF979715 AA490556 AA580992 AA906207 AA367798 BE791306 BF447651 AI985368 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RTF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGCCGCTGA
    RTF1 Expression
    About this image


    See RTF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RTF1

    SOURCE GeneReport for Unigene cluster: Hs.511096
        SABiosciences Custom PCR Arrays for RTF1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RTF1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RTF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RTF1 gene from 10/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rtf11 , 5 Rtf1, Paf1/RNA polymerase II complex component, homolog more1, 5 91.69(n)1
    98.31(a)1
      2 (59.97 cM)5
    762461  NM_030112.21  NP_084388.21 
     1196750685 
    chicken
    (Gallus gallus)
    Aves RTF11 Rtf1, Paf1/RNA polymerase II complex component, homolog more 83.68(n)
    97.01(a)
      423215  XM_421139.3  XP_421139.2 
    lizard
    (Anolis carolinensis)
    Reptilia RTF16
    Uncharacterized protein
    94(a)
    1 ↔ 1
    1(41696699-41729364)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.167062 Xenopus laevis transcribed sequence with weak similarity more 79.1(n)    BU900152.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.151152 Danio rerio, clone IMAGE5413118, mRNA, partial cds 77.17(n)    BC055619.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rtf11 CG10955-PA 52.29(n)
    47.97(a)
      37554  NM_137821.2  NP_611665.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F25B3.61 Protein F25B3.6 45.26(n)
    36.47(a)
      179345  NM_073072.3  NP_505473.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RTF11 Rtf1p 42.45(n)
    27.76(a)
      852607   NP_011270.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons VIP51 plus-3 domain-containing protein 41.28(n)
    28.36(a)
      842395  NM_104784.3  NP_176299.1 
    rice
    (Oryza sativa)
    Liliopsida Os12g05359001 hypothetical protein 41.95(n)
    28.49(a)
      4352419  NM_001073468.1  NP_001066936.1 


    ENSEMBL Gene Tree for RTF1 (if available)
    TreeFam Gene Tree for RTF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1403 SNPs in RTF1 are shown (see all 1403)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1865011861,2
    --21772384(+) ATCCCC/TCTGCC 1 -- us2k10--------
    rs1500833141,2
    --21772399(+) CCTCCC/GAAAGT 1 -- us2k10--------
    rs1466769751,2
    --21772417(+) ACAGGC/TGTGAG 1 -- us2k10--------
    rs1908390481,2
    --21772503(+) TCCTGC/TCCTCA 1 -- us2k10--------
    rs1404031471,2
    --21772563(+) GCCACC/TACGCC 1 -- us2k10--------
    rs1455665371,2
    --21772569(+) ACGCCC/TGGCCC 1 -- us2k10--------
    rs1379839361,2
    --21772620(+) AGCTGA/GCCTTT 1 -- us2k10--------
    rs2000415651,2
    --21772652(+) AGTAT-/AAAAAA 1 -- us2k10--------
    rs1116373421,2
    C--21772655(+) ATAAAAATG/-  
            
    AACTT
    1 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs771342431,2
    C--21772656(+) TAAAA-/AAT   
       G
    /TGA
    ACTTA
    2 -- us2k1 cds10--------

    HapMap Linkage Disequilibrium report for RTF1 (41700606 - 41775761 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RTF1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2674168CNV Deletion23128226
    nsv1505CNV Insertion18451855
    nsv524476CNV Loss19592680


    Human Gene Mutation Database (HGMD): RTF1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing RTF1
    DNA2.0 Custom Variant and Variant Library Synthesis for RTF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611633    OMIM disorders: --

    2 diseases for RTF1:    About MalaCards
    influenza    


    RTF1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RTF1
    Human Genome Epidemiology (HuGE) Navigator: RTF1 (1 document)

    Export disorders for RTF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RTF1 gene, integrated from 9 sources (see all 34):
    (articles sorted by number of sources associating them with RTF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)1, 2 Rigbolt K.T....Blagoev B. (2011)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. The human PAF1 complex acts in chromatin transcriptio n elongation both independently and cooperatively with SII/TFIIS. (PubMed id 20178742)1, 2 Kim J....Roeder R.G. (2010)
    4. A genome-scale RNAi screen for Oct4 modulators define s a role of the Paf1 complex for embryonic stem cell identity. (PubMed id 19345177)1, 2 Ding L....Buchholz F. (2009)
    5. Structure and DNA binding of the human Rtf1 Plus3 domain. (PubMed id 18184592)1, 2 de Jong R.N....Folkers G.E. (2008)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    7. The parafibromin tumor suppressor protein is part of a human Paf1 complex. (PubMed id 15632063)1, 3 Rozenblatt-Rosen O....Meyerson M. (2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
    10. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PubMed id 9039502)1, 2 Nagase T....Nomura N. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23168 HGNC: 28996 AceView: KIAA0252 Ensembl:ENSG00000137815 euGenes: HUgn23168
    ECgene: RTF1 H-InvDB: RTF1

    (According to HUGE)
    About This Section
    HUGE: KIAA0252

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RTF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RTF1 gene:
    Search GeneIP for patents involving RTF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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