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

PUF60 Gene

protein-coding   GIFtS: 57
GCID: GC08M144898

Poly-U Binding Splicing Factor 60KDa

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(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
Poly-U Binding Splicing Factor 60KDa1 2     Poly(U)-Binding-Splicing Factor PUF602
FBP Interacting Repressor1 2     Ro Ribonucleoprotein-Binding Protein 12
Pyrimidine Tract Binding Splicing Factor1 2     60 KDa Poly(U)-Binding-Splicing Factor3
Siah Binding Protein 11 2     ROBPI3
FIR2 3     RoBP13
SIAHBP12 3     Siah-BP13
FUSE-Binding Protein-Interacting Repressor2 3     FBP-Interacting Repressor3
Ro Ribonucleoprotein Binding Protein 11     Ro-Binding Protein 13
RoBPI2     Siah-Binding Protein 13

External Ids:    HGNC: 170421   Entrez Gene: 228272   Ensembl: ENSG000001799507   OMIM: 6048195   UniProtKB: Q9UHX13   

Export aliases for PUF60 gene to outside databases

Previous GC identifers: GC08M144971 GC08M140151


(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 PUF60 Gene:
This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including
pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA
element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses
MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants
encoding multiple isoforms have been observed for this gene. (provided by RefSeq, Aug 2012)

GeneCards Summary for PUF60 Gene: 
PUF60 (poly-U binding splicing factor 60KDa) is a protein-coding gene. Diseases associated with PUF60 include xeroderma pigmentosum, and macular degeneration, and among its related super-pathways are mRNA Splicing - Major Pathway. GO annotations related to this gene include RNA binding and nucleotide binding. An important paralog of this gene is RBM23.

UniProtKB/Swiss-Prot: PUF60_HUMAN, Q9UHX1
Function: DNA- and RNA-binding protein, involved in several nuclear processes such as pre-mRNA splicing, apoptosis
and transcription regulation. In association with FUBP1 regulates MYC transcription at the P2 promoter through
the core-TFIIH basal transcription factor. Acts as a transcriptional repressor through the core-TFIIH basal
transcription factor. Represses FUBP1-induced transcriptional activation but not basal transcription. Decreases
ERCC3 helicase activity. Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation
group B (XPB) cells. Is also involved in pre-mRNA splicing. Promotes splicing of an intron with weak 3'-splice
site and pyrimidine tract in a cooperative manner with U2AF2. Involved in apoptosis induction when overexpressed
in HeLa cells. Isoform 6 failed to repress MYC transcription and inhibited FIR-induced apoptosis in colorectal
cancer. Isoform 6 may contribute to tumor progression by enabling increased MYC expression and greater resistance
to apoptosis in tumors than in normal cells. Modulates alternative splicing of several mRNAs. Binds to relaxed
DNA of active promoter regions. Binds to the pyrimidine tract and 3'-splice site regions of pre-mRNA; binding is
enhanced in presence of U2AF2. Binds to Y5 RNA in association with TROVE2. Binds to poly(U) RNA

Gene Wiki entry for PUF60 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_000008.10  NT_008046.16  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PUF60 gene promoter:
         AhR   FOXF2   ARP-1   STAT5A   Arnt   c-Ets-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for PUF60

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PUF60


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

Entrez Gene cytogenetic band: 8q24.3   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24.3

PUF60 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PUF60 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M144898:  view genomic region     (about GC identifiers)

Start:
144,898,514 bp from pter      End:
144,912,029 bp from pter
Size:
13,516 bases      Orientation:
minus strand

1 alternative location:
Chr8-,NW_003315923 155,022-168,012     

(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: PUF60_HUMAN, Q9UHX1 (See protein sequence)
Recommended Name: Poly(U)-binding-splicing factor PUF60  
Size: 559 amino acids; 59875 Da
Subunit: Homodimer. Associates with the spliceosome. Found in a complex with TROVE2 and Y5 RNA. Found in a complex
with FUBP1 and far upstream element (FUSE) DNA segment. Interacts directly with ERCC3. Interacts with CDK7,
GTF2H1 and SFRS11. Does not interact with ERCC3 in xeroderma pigmentosum complementation group B (XPB) cells
Subcellular location: Nucleus. Note=Colocalizes partially with TROVE2
Miscellaneous: Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation group B
(XPB) cells
6/8 PDB 3D structures from and Proteopedia for PUF60 (see all 8):
2DNY (3D)        2KXF (3D)        2KXH (3D)        2QFJ (3D)        3DXB (3D)        3UE2 (3D)    
Secondary accessions: A8K8K8 Q969E7 Q96D94 Q96H63 Q99628 Q9NZA0 Q9UJY7
Alternative splicing: 6 isoforms:  Q9UHX1-1   Q9UHX1-2   Q9UHX1-3   Q9UHX1-4   Q9UHX1-5   Q9UHX1-6   

Explore the universe of human proteins at neXtProt for PUF60: NX_Q9UHX1

Explore proteomics data for PUF60 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UHX1

  • PUF60 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PUF60 Protein Expression
    REFSEQ proteins (8 alternative transcripts): 
    NP_001129505.1  NP_001258025.1  NP_001258026.1  NP_001258027.1  NP_001258028.1  NP_001258029.1  NP_055096.2  NP_510965.1  

    ENSEMBL proteins: 
     ENSP00000434359   ENSP00000402953   ENSP00000322016   ENSP00000395417   ENSP00000322036  
     ENSP00000431960   ENSP00000432091   ENSP00000432610   ENSP00000436131   ENSP00000434863  
     ENSP00000437309   ENSP00000433403  

    Human Recombinant Protein Products for PUF60: 
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    Novus Biologicals PUF60 Proteins
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PUF60 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0019907colocalizes with cyclin-dependent protein kinase activating kinase holoenzyme complex IDA11445587
    GO:0030529ribonucleoprotein complex IEA--

    PUF60 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    RBM: RNA binding motif (RRM) containing

    4 InterPro protein domains:
     IPR012677 Nucleotide-bd_a/b_plait
     IPR006532 PolyU-bd
     IPR003954 RRM_dom_euk
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry Q9UHX1

    ProtoNet protein and cluster: Q9UHX1

    1 Blocks protein domain: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

    UniProtKB/Swiss-Prot: PUF60_HUMAN, Q9UHX1
    Domain: The third RNA recognition motif, called PUMP domain, is atypical and may rather mediate homodimerization
    and/or protein-protein interactions
    Similarity: Belongs to the RRM half pint family
    Similarity: Contains 3 RRM (RNA recognition motif) domains


    PUF60 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: PUF60_HUMAN, Q9UHX1
    Function: DNA- and RNA-binding protein, involved in several nuclear processes such as pre-mRNA splicing, apoptosis
    and transcription regulation. In association with FUBP1 regulates MYC transcription at the P2 promoter through
    the core-TFIIH basal transcription factor. Acts as a transcriptional repressor through the core-TFIIH basal
    transcription factor. Represses FUBP1-induced transcriptional activation but not basal transcription. Decreases
    ERCC3 helicase activity. Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation
    group B (XPB) cells. Is also involved in pre-mRNA splicing. Promotes splicing of an intron with weak 3'-splice
    site and pyrimidine tract in a cooperative manner with U2AF2. Involved in apoptosis induction when overexpressed
    in HeLa cells. Isoform 6 failed to repress MYC transcription and inhibited FIR-induced apoptosis in colorectal
    cancer. Isoform 6 may contribute to tumor progression by enabling increased MYC expression and greater resistance
    to apoptosis in tumors than in normal cells. Modulates alternative splicing of several mRNAs. Binds to relaxed
    DNA of active promoter regions. Binds to the pyrimidine tract and 3'-splice site regions of pre-mRNA; binding is
    enhanced in presence of U2AF2. Binds to Y5 RNA in association with TROVE2. Binds to poly(U) RNA

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI16169070
         
    PUF60 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PUF60:
     Decreased viability  Lamellipodia cells 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PUF60 
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    hsa-miR-424 hsa-miR-15a hsa-miR-16 hsa-miR-195 hsa-miR-497 hsa-miR-3918 hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidPUF60 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PUF60


    (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

    SuperPaths for PUF60 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    Spliceosome0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for PUF60):
        Spliceosome


    PUF60 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PUF60

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

    5/680 Interacting proteins for PUF60 (Q9UHX11, 2, 3 ENSP000003220164) via UniProtKB, MINT, STRING, and/or I2D (see all 680)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCBP1Q153651, 2, 3, ENSP000003055564EBI-1053259,EBI-946095 MINT-2856343 MINT-2869868 I2D: score=3 STRING: ENSP00000305556
    PPP1R16AQ96I341, 2, 3, ENSP000002925394EBI-1053259,EBI-710402 MINT-65190 I2D: score=5 STRING: ENSP00000292539
    CHD3Q128732, 3MINT-7945693 MINT-65742 I2D: score=5 
    VIMP086702, 3MINT-7945693 MINT-65741 I2D: score=5 
    YWHAGP619812, 3, ENSP000003063304MINT-50845 I2D: score=4 STRING: ENSP00000306330
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0006397mRNA processing IEA--
    GO:0006915apoptotic process IEA--
    GO:0008380RNA splicing IEA--

    PUF60 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 PUF60

    1 HMDB Compound for PUF60    About this table
    CompoundSynonyms CAS #PubMed Ids
    Pyrimidine1,3-Diazabenzene (see all 10)25247-63-6--

    Search CenterWatch for drugs/clinical trials and news about PUF60

    (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 PUF60 gene (8 alternative transcripts): 
    NM_001136033.2  NM_001271096.1  NM_001271097.1  NM_001271098.1  NM_001271099.1  NM_001271100.1  NM_014281.4  NM_078480.2  

    Unigene Cluster for PUF60:

    Poly-U binding splicing factor 60KDa
    Hs.521924  [show with all ESTs]
    Unigene Representative Sequence: NM_001136033
    18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000526683(uc003yzs.3 uc003yzt.3) ENST00000453551(uc003yzq.3)
    ENST00000313352(uc003yzr.3) ENST00000456095 ENST00000349157 ENST00000527197
    ENST00000524570(uc003yzu.1) ENST00000532884 ENST00000526459 ENST00000527744
    ENST00000531951 ENST00000528320 ENST00000529999 ENST00000528999 ENST00000531897
    ENST00000529693 ENST00000533162 ENST00000527584

    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate PUF60:
    hsa-miR-424 hsa-miR-15a hsa-miR-16 hsa-miR-195 hsa-miR-497 hsa-miR-3918 hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidPUF60 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF114818.1 AF190744.1 AF217197.2 AK055941.1 AK292373.1 BC008875.2 BC009734.1 BC011265.1 
    BC011979.1 BC035435.2 CR457143.1 U51586.1 

    24/30 DOTS entries (see all 30):

    DT.95094753  DT.100059765  DT.92459964  DT.100741999  DT.449441  DT.97855693  DT.121479403  DT.100741974 
    DT.100043356  DT.92459920  DT.95098426  DT.92459913  DT.100741991  DT.100741988  DT.121479441  DT.121479470 
    DT.92459951  DT.102835154  DT.100059760  DT.100641958  DT.100678154  DT.102835155  DT.121479450  DT.121479481 

    24/805 AceView cDNA sequences (see all 805):

    BQ637245 BQ720464 BU146084 BG747743 BI764573 BC011979 BE267958 BM709002 
    BI259342 BM917246 BX418170 BQ720629 BQ688276 CB265354 BI869834 BG686052 
    BE274866 BQ774795 BQ686076 BE893745 BI766926 BM747576 AA587044 BG422985 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for PUF60 (see all 12)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b · 11c · 11d ^ 12a · 12b · 12c · 12d ^ 13 ^ 14 ^ 15a · 15b ^ 16
    SP1:                          -                       -     -     -                             -                                                               
    SP2:                          -                 -     -     -     -                             -                                                               
    SP3:                                                  -     -     -                             -                                                               
    SP4:              -           -                       -     -     -                             -                                                               
    SP5:        -     -           -                       -     -     -                                                                                             


    ECgene alternative splicing isoforms for PUF60

    (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

    PUF60 expression in normal human tissues (normalized intensities)      PUF60 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGACCCCA
    PUF60 Expression
    About this image


    PUF60 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Ovary (Reproductive System)
             Primary Oocyte Primary Follicle
     
     Gonad
             Primary Oocyte Primary Follicle

    See PUF60 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PUF60

    SOURCE GeneReport for Unigene cluster: Hs.521924

    UniProtKB/Swiss-Prot: PUF60_HUMAN, Q9UHX1
    Tissue specificity: Isoform 2 is expressed in colonic epithelium and colorectal epithelium cancer (at protein
    level). Isoform 6 is expressed in colorectal epithelial cancer but below detection level in colonic epithelium.
    Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate,
    testis, ovary, small intestine, colon and peripheral blood leukocytes

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    (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 animals and fungi.

    Orthologs for PUF60 gene from 8/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Puf601 , 5 poly-U binding splicing factor 601, 5 90.22(n)1
    98.75(a)1
      15 (35.32 cM)5
    679591  NM_028364.21  NP_082640.21 
     760701845 
    chicken
    (Gallus gallus)
    Aves PUF601 poly-U binding splicing factor 60KDa 83.58(n)
    98.54(a)
      426402  NM_001031380.1  NP_001026551.1 
    lizard
    (Anolis carolinensis)
    Reptilia PUF606
    poly-U binding splicing factor 60KDa
    94(a)
    1 ↔ 1
    GL344533.1(6801-26008)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.68282 Xenopus laevis transcribed sequence with strong similarity more 82.61(n)    BX844428.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb33e112 Transcribed sequence with moderate similarity to protein more 79.09(n)    CA474237.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta pUf681 poly U binding factor 68kD 65.22(n)
    60.54(a)
      38173  NM_080384.3  NP_525123.2 
    worm
    (Caenorhabditis elegans)
    Secernentea rnp-61 Protein RNP-6 49.83(n)
    49.28(a)
      171922  NM_058775.4  NP_491176.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PAB16
    Poly(A) binding protein, part of the 3'-end RNA-pr...
    14(a)
    1 → many
    V(510373-512106)


    ENSEMBL Gene Tree for PUF60 (if available)
    TreeFam Gene Tree for PUF60 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PUF60 gene
    RBM232  TIA12  RBM392  TIAL12  
    8 SIMAP similar genes for PUF60 using alignment to 7 protein entries:     PUF60_HUMAN (see all proteins):
    SNRNP70    PABPC4    RBMY1A1    PABPC1    PABPC1L2A    PABPC1L2B
    TIAL1    HNRNPD

    PUF60 for paralogs           About GeneDecksing



    (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

    10/306 SNPs in PUF60 are shown (see all 306)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1998714691,2
    C--144899728(+) CCCGCC/TCACCC 8 -- int10--------
    rs2021355581,2
    C--144899807(+) GCAGCA/GGCAGG 16 A syn10--------
    rs1907034621,2
    --144899991(+) CCCAGC/TCTCAG 8 -- int10--------
    rs1841263511,2
    C--144899999(+) CAGGTA/GGCCCC 8 -- int10--------
    rs1138243521,2
    C,F--144900072(+) GGGTCC/GCGGGC 16 R syn12Minor allele frequency- G:0.00CSA EU 594
    rs1882356311,2
    C--144900096(+) TTGATC/TTTGCC 16 K syn10--------
    rs74594391,2
    C--144900193(+) CCTCAA/GCCAAC 16 A V mis1 ese30--------
    rs2005973691,2
    C--144900276(+) AGACCA/GGTCAA 8 -- int10--------
    rs1450033581,2
    C--144900290(+) AGGCCC/TGGCCA 8 -- int10--------
    rs1410870701,2
    C--144900291(+) GGCCCA/GGCCAC 8 -- int10--------

    HapMap Linkage Disequilibrium report for PUF60 (144898514 - 144912029 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for PUF60 (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv7945n71CNV Loss21882294
    dgv7946n71CNV Loss21882294
    nsv891751CNV Loss21882294
    nsv891766CNV Loss21882294
    nsv891776CNV Loss21882294
    nsv6442CNV Loss18451855
    dgv7943n71CNV Loss21882294
    dgv7939n71CNV Loss21882294
    dgv7935n71CNV Loss21882294
    nsv466009CNV Loss19166990

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    (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: 604819    OMIM disorders: --

    7 diseases for PUF60:    About MalaCards
    xeroderma pigmentosum    macular degeneration    ataxia    parkinson's disease
    colorectal cancer    prostatitis    neuronitis


    PUF60 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Export disorders for PUF60 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 PUF60 gene, integrated from 9 sources (see all 66):
    (articles sorted by number of sources associating them with PUF60)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Interaction cloning and characterization of RoBPI, a novel protein binding to human Ro ribonucleoproteins. (PubMed id 10668799)1, 2, 3, 9 Bouffard P.... Boire G. (2000)
    2. Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF. (PubMed id 17579712)1, 2, 3 Hastings M.L.... Krainer A.R. (2007)
    3. The FBP interacting repressor targets TFIIH to inhibit activated transcription. (PubMed id 10882074)1, 2, 3 Liu J....Levens D. (2000)
    4. An essential role of alternative splicing of c-myc suppressor FUSE- binding protein-interacting repressor in carcinogenesis. (PubMed id 16452196)1, 2 Matsushita K....Ochiai T. (2006)
    5. The FUSE/FBP/FIR/TFIIH system is a molecular machine programming a pulse of c-myc expression. (PubMed id 16628215)1, 2 Liu J.... Levens D. (2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Defective interplay of activators and repressors with TFIH in xeroderma pigmentosum. (PubMed id 11239393)1, 2 Liu J....Levens D. (2001)
    8. PUF60: a novel U2AF65-related splicing activity. (PubMed id 10606266)1, 2 Page-McCaw P.S.... Sharp P.A. (1999)
    9. c-myc suppressor FBP-interacting repressor for cancer diagnosis and therapy. (PubMed id 19273283)1, 9 Matsushita K....Nomura F. (2009)
    10. SAP155-mediated c-myc suppressor far-upstream element- binding protein-interacting repressor splicing variants are activated in colon c ancer tissues. (PubMed id 23113893)1 Kajiwara T....Nomura F. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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: 22827 HGNC: 17042 AceView: SIAHBP1 Ensembl:ENSG00000179950 euGenes: HUgn22827
    ECgene: PUF60 Kegg: 22827 H-InvDB: PUF60

    (According to HUGE)
    About This Section
      --

    (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 PUF60 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 PUF60 gene:
    Search GeneIP for patents involving PUF60

    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: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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