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PUF60 Gene

protein-coding   GIFtS: 58
GCID: GC08M144898

Poly-U Binding Splicing Factor 60KDa

  See PUF60-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)
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Aliases
Poly-U Binding Splicing Factor 60KDa1 2     Poly(U)-Binding-Splicing Factor PUF602
FIR2 3 5     Ro Ribonucleoprotein-Binding Protein 12
SIAHBP12 3 5     60 KDa Poly(U)-Binding-Splicing Factor3
FBP Interacting Repressor1 2     ROBPI3
Pyrimidine Tract Binding Splicing Factor1 2     RoBP13
Siah Binding Protein 11 2     Siah-BP13
FUSE-Binding Protein-Interacting Repressor2 3     FBP-Interacting Repressor3
VRJS2 5     Ro-Binding Protein 13
Ro Ribonucleoprotein Binding Protein 11     Siah-Binding Protein 13
RoBPI2     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 verheij syndrome. GO annotations related to this gene include RNA binding and nucleotide binding. An important paralog of this gene is PABPC1L2B.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NC_018919.2  NT_008046.17  NT_187571.1  
Regulatory elements:
   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 Chromatin IP Primers for PUF60

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
Miscellaneous: Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation group B
(XPB) cells
Selected 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: 

  • Ubiquitination2 at Lys243
  • Modification sites at PhosphoSitePlus

  • See PUF60 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

    PUF60 Human Recombinant Protein Products:

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    Novus Biologicals PUF60 Proteins
    Novus Biologicals PUF60 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PUF60

     
    Search eBioscience for Proteins for PUF60 

    PUF60 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Search for Antibodies for PUF60 at Abcam
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    ThermoFisher Antibody for PUF60
    LSBio Antibodies in human, mouse, rat for PUF60

    PUF60 Assay Products:

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    Cloud-Clone Corp. ELISAs for PUF60
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    Search eBioscience for ELISAs for PUF60 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with PUF60           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0003723RNA binding ----
    GO:0005515protein binding IPI16169070
         
    Find genes that share ontologies with PUF60           About GenesLikeMe


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

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PUF60
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PUF60
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PUF60

    miRNA
    Products:
        
    miRTarBase miRNAs that target PUF60:
    hsa-mir-93-3p (MIRT038851), hsa-mir-484 (MIRT042259)

    Block miRNA regulation of human, mouse, rat PUF60 using miScript Target Protectors
    7 qRT-PCR 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
    Products:
        
    OriGene RNAi products in human, mouse, rat for PUF60
    Predesigned siRNA for gene silencing in human, mouse, rat PUF60

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for PUF60

    Clone
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    OriGene clones in human, mouse for PUF60 (see all 23)
    OriGene ORF clones in mouse, rat for PUF60
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): PUF60 (NM_078480)
    Sino Biological Human cDNA Clone for PUF60
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PUF60
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PUF60

    Cell Line
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PUF60


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PUF60_HUMAN, Q9UHX1: Nucleus. Note=Colocalizes partially with TROVE2
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0019907colocalizes with cyclin-dependent protein kinase activating kinase holoenzyme complex IDA11445587
    GO:0030529ribonucleoprotein complex IEA--

    Find genes that share ontologies with PUF60           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PUF60 About    
    See pathways by source

    SuperPathContained pathways About
    1Spliceosome
    Spliceosome


    Find genes that share SuperPaths with PUF60           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for PUF60):
        Spliceosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PUF60
    Interactions:

        GeneGlobe Interaction Network for PUF60

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

    Selected Interacting proteins for PUF60 (Q9UHX11, 2, 3 ENSP000003220164) via UniProtKB, MINT, STRING, and/or I2D (see all 710)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCBP1Q153651, 2, 3, ENSP000003055564EBI-1053259,EBI-946095 MINT-2856343 MINT-2869868 I2D: score=3 STRING: ENSP00000305556
    CHD3Q128732, 3MINT-7945693 MINT-65742 I2D: score=5 
    VIMP086702, 3MINT-7945693 MINT-65741 I2D: score=5 
    LOH12CR1Q969J32, 3, ENSP000003215464MINT-67107 I2D: score=4 STRING: ENSP00000321546
    FUBP1Q96AE42, 3, ENSP000003598044MINT-7945693 I2D: score=2 STRING: ENSP00000359804
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

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

    Find genes that share ontologies with PUF60           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    Selected 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 qRT-PCR 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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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): PUF60 (NM_078480)
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PUF60
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PUF60
      QuantiTect SYBR Green Assays in human, mouse, rat PUF60
      QuantiFast Probe-based Assays in human, mouse, rat PUF60

    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 

    Selected 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 

    Selected AceView cDNA sequences (see all 805):

    BM759622 BM558085 BM799218 BM917246 BI197161 BM462053 BX420221 BG774285 
    BQ890024 AW245149 BF981985 BX421517 BE742517 BM800070 BM762747 BU180280 
    BU528195 BQ688436 BX412848 BF026006 BQ876744 BQ225777 BE741721 BE893745 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PUF60 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 8) fully expand
     
     Ovary (Reproductive System)
             Primary Oocyte Primary Follicle
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Gonad
             Primary Oocyte Primary Follicle
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Testis (Reproductive System)
    PUF60 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PUF60 Protein Expression

    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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PUF60 gene from Selected 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 90.1(n)1
    98.39(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 84.07(n)
    99.41(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 65.38(n)
    61.08(a)
      38173  NM_080384.4  NP_525123.2 
    worm
    (Caenorhabditis elegans)
    Secernentea rnp-61 rnp-6 54.04(n)
    55.15(a)
      171922  NM_058775.5  NP_491176.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HSH496
    U2-snRNP associated splicing factor with similarit...
    22(a)
    1 → many
    XV(912822-913463) YOR319W


    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)
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    Paralogs for PUF60 gene
    PABPC1L2B2  SF3B42  PABPC1L2A2  
    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

    Find genes that share paralogs with PUF60           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PUF60 (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) Selected 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

    Human Gene Mutation Database (HGMD): PUF60
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing PUF60:
    Ovarian Cancer
    SeqTarget long-range PCR primers for resequencing PUF60
    DNA2.0 Custom Variant and Variant Library Synthesis for PUF60

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604819   
    OMIM disorders: 615583  
    1 disease for PUF60:    
    About MalaCards
    verheij syndrome


    Find genes that share disorders with PUF60           About GenesLikeMe


    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)
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    PubMed articles for PUF60 gene, integrated from 10 sources (see all 68):
    (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. (RNA 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. (PLoS ONE 2007)
    3. The FBP interacting repressor targets TFIIH to inhibit activated transcription. (PubMed id 10882074)1, 2, 3 Liu J....Levens D. (Mol. Cell 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. (Cancer Res. 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. (EMBO J. 2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Defective interplay of activators and repressors with TFIH in xeroderma pigmentosum. (PubMed id 11239393)1, 2 Liu J....Levens D. (Cell 2001)
    8. PUF60: a novel U2AF65-related splicing activity. (PubMed id 10606266)1, 2 Page-McCaw P.S.... Sharp P.A. (RNA 1999)
    9. c-myc suppressor FBP-interacting repressor for cancer diagnosis and therapy. (PubMed id 19273283)1, 9 Matsushita K....Nomura F. (Front Biosci (Landmark Ed) 2009)
    10. SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. (PubMed id 24140112)1 Dauber A....Katsanis N. (Am. J. Hum. Genet. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 22827 HGNC: 17042 AceView: SIAHBP1 Ensembl:ENSG00000179950 euGenes: HUgn22827
    ECgene: PUF60 Kegg: 22827 H-InvDB: PUF60

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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