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CPSF3L Gene

protein-coding   GIFtS: 55
GCID: GC01M001249

Cleavage And Polyadenylation Specific Factor 3-Like

  See CPSF3L-related diseases
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
Cleavage And Polyadenylation Specific Factor 3-Like1 2     CPSF3-Like Protein2 3
INTS112 3 5     CPSF73L2
RC682 3 5     INT112
Integrator Complex Subunit 111 2     Related To CPSF Subunits 68 KDa2
Cleavage And Polyadenylation-Specific Factor 3-Like Protein2 3     EC 3.1.27.-3
Protein Related To CPSF Subunits Of 68 KDa2 3     Int113
RC-682 3     EC 3.1.278

External Ids:    HGNC: 260521   Entrez Gene: 549732   Ensembl: ENSG000001270547   OMIM: 6113545   UniProtKB: Q5TA453   

Export aliases for CPSF3L gene to outside databases

Previous GC identifers: GC01M001290 GC01M001236 GC01M000518


(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 CPSF3L Gene:
The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase
II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM
180680) and U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic subunit of the Integrator complex (Baillat
et al., 2005 (PubMed 16239144)).(supplied by OMIM, Mar 2008)

GeneCards Summary for CPSF3L Gene:
CPSF3L (cleavage and polyadenylation specific factor 3-like) is a protein-coding gene. Diseases associated with CPSF3L include meningococcal meningitis, and anal fistula. GO annotations related to this gene include hydrolase activity. An important paralog of this gene is CPSF3.

UniProtKB/Swiss-Prot: INT11_HUMAN, Q5TA45
Function: Catalytic component of the Integrator complex, a complex involved in the small nuclear RNAs (snRNA) U1
and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the
C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs
genes. Mediates the snRNAs 3' cleavage

Gene Wiki entry for CPSF3L 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_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CPSF3L gene promoter:
         NRSF form 1   HNF-4alpha2   NRSF form 2   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCPSF3L promoter sequence
   Search Chromatin IP Primers for CPSF3L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CPSF3L


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

Entrez Gene cytogenetic band: 1p36.33   Ensembl cytogenetic band:  1p36.33   HGNC cytogenetic band: 1p36.33

CPSF3L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CPSF3L gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M001249:  view genomic region     (about GC identifiers)

Start:
1,246,965 bp from pter      End:
1,260,071 bp from pter
Size:
13,107 bases      Orientation:
minus strand

(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: INT11_HUMAN, Q5TA45 (See protein sequence)
Recommended Name: Integrator complex subunit 11  
Size: 600 amino acids; 67663 Da
Subunit: Belongs to the multiprotein complex Integrator, at least composed of INTS1, INTS2, INTS3, INTS4, INTS5,
INTS6, INTS7, INTS8, INTS9/RC74, INTS10, CPSF3L/INTS11 and INTS12
Sequence caution: Sequence=BAA91246.1; Type=Frameshift; Positions=587; Sequence=BAB14541.1; Type=Frameshift;
Positions=248; Sequence=CAI23174.1; Type=Erroneous initiation; Sequence=CAI23176.1; Type=Erroneous initiation;
Sequence=CAI23177.1; Type=Erroneous initiation; Sequence=CAI23179.1; Type=Erroneous gene model prediction;
Sequence=CAI23180.1; Type=Erroneous gene model prediction; Sequence=CAI23181.1; Type=Erroneous gene model
prediction;
Secondary accessions: A8K5S2 B3KPR3 B4DM87 G3V1S5 Q5TA46 Q5TA48 Q5TA52 Q5TA53 Q5TA54 Q7L3D7
Q96HY1 Q9BW36 Q9H0F9 Q9H8R5 Q9HAA6 Q9NWX9
Alternative splicing: 5 isoforms:  Q5TA45-1   Q5TA45-2   Q5TA45-3   Q5TA45-4   Q5TA45-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CPSF3L: NX_Q5TA45

Explore proteomics data for CPSF3L at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys280, Lys289, Lys462, Lys486, Lys500
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CPSF3L (Q5TA45) (see all 23)
     SHFHLDH  DCGMHMG  FEFKHIK  RERDFLK 


    See CPSF3L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001243385.1  NP_001243389.1  NP_001243391.1  NP_001243392.1  NP_060341.2  

    ENSEMBL proteins: 
     ENSP00000413493   ENSP00000400548   ENSP00000464436   ENSP00000433930   ENSP00000404886  
     ENSP00000431214   ENSP00000392848   ENSP00000431952   ENSP00000432777   ENSP00000433264  
     ENSP00000431425   ENSP00000411233   ENSP00000435418   ENSP00000434790   ENSP00000404012  
     ENSP00000436743   ENSP00000432009   ENSP00000435772   ENSP00000433733   ENSP00000436824  
     ENSP00000434782   ENSP00000436396   ENSP00000445001   ENSP00000444672  

    CPSF3L Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for CPSF3L

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR011108 RMMBL
     IPR001279 Beta-lactamas-like
     IPR022712 Beta_Casp

    Graphical View of Domain Structure for InterPro Entry Q5TA45

    ProtoNet protein and cluster: Q5TA45

    1 Blocks protein domain: IPB011108 RNA-metabolising metallo-beta-lactamase

    UniProtKB/Swiss-Prot: INT11_HUMAN, Q5TA45
    Domain: The HXHXDH motif is essential for the endoribonuclease activity of the CPSF complex (By similarity)
    Similarity: Belongs to the metallo-beta-lactamase superfamily. RNA-metabolizing metallo-beta-lactamase-like
    family. INTS11 subfamily


    Find genes that share domains with CPSF3L           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: INT11_HUMAN, Q5TA45
    Function: Catalytic component of the Integrator complex, a complex involved in the small nuclear RNAs (snRNA) U1
    and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the
    C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs
    genes. Mediates the snRNAs 3' cleavage

         Enzyme Numbers (IUBMB): EC 3.1.272 EC 3.1.27.-1

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016787hydrolase activity IEA--
         
    Find genes that share ontologies with CPSF3L           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for CPSF3L:
     Cell division defect  Decreased nuclei size in G2M  Increased S DNA content  Increased number of mitotic ce 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CPSF3L
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    miRNA
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    miRTarBase miRNAs that target CPSF3L:
    hsa-mir-23b-3p (MIRT046322), hsa-mir-1226-3p (MIRT036451), hsa-let-7b-5p (MIRT032276), hsa-mir-320a (MIRT044830), hsa-mir-30a-5p (MIRT028411)

    Block miRNA regulation of human, mouse, rat CPSF3L using miScript Target Protectors
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPSF3L


    (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
    INT11_HUMAN, Q5TA45: Nucleus. Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    golgi apparatus2
    cytoskeleton1
    mitochondrion1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0072562blood microparticle IDA--

    Find genes that share ontologies with CPSF3L           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CPSF3L
    Interactions:

        Search GeneGlobe Interaction Network for CPSF3L

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

    Selected Interacting proteins for CPSF3L (Q5TA452, 3 ENSP000004134934) via UniProtKB, MINT, STRING, and/or I2D (see all 86)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK2BP678702, 3MINT-8253198 I2D: score=2 
    ENSG00000206406P678702, 3MINT-8253198 I2D: score=2 
    ENSG00000224398P678702, 3MINT-8253198 I2D: score=2 
    ENSG00000224774P678702, 3MINT-8253198 I2D: score=2 
    ENSG00000228875P678702, 3MINT-8253198 I2D: score=2 
    About this table

    (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 CPSF3L (INT11)



    (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 CPSF3L gene (6 alternative transcripts): 
    NM_032179.1  NM_001256456.1  NM_001256460.1  NM_001256462.1  NM_001256463.1  NM_017871.5  

    Unigene Cluster for CPSF3L:

    Cleavage and polyadenylation specific factor 3-like
    Hs.6449  [show with all ESTs]
    Unigene Representative Sequence: BC047576
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 48):
    ENST00000470030 ENST00000435064(uc001aee.1 uc009vjz.1 uc001aeh.1)
    ENST00000497304 ENST00000323275(uc001aeg.1) ENST00000411962(uc001aei.1)
    ENST00000462432(uc009vjy.1) ENST00000478641 ENST00000421495(uc001aek.1)
    ENST00000458452(uc001aef.1 uc010nyj.1) ENST00000419704 ENST00000532772
    ENST00000450926 ENST00000527098 ENST00000485710 ENST00000461514 ENST00000525164
    ENST00000528879 ENST00000525769
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat CPSF3L
      QuantiFast Probe-based Assays in human, mouse, rat CPSF3L

    Additional mRNA sequence: 

    AK000549.1 AK021939.1 AK022675.1 AK023356.1 AK027767.1 AK056652.1 AK058018.1 AK092190.1 
    AK291387.1 AK297350.1 AL136813.1 BC000675.2 BC007978.2 BC008041.2 BC013904.2 BC020199.1 
    BC042444.1 BC047576.1 CR533557.1 

    Selected DOTS entries (see all 43):

    DT.100862238  DT.100862242  DT.100862225  DT.455178  DT.100862228  DT.101985336  DT.95164263  DT.100031157 
    DT.121344420  DT.121344485  DT.92447042  DT.100862224  DT.95164246  DT.100862232  DT.121344451  DT.95164283 
    DT.100031155  DT.100862243  DT.121344508  DT.100862241  DT.121344418  DT.121344466  DT.121344551  DT.100771371 

    Selected AceView cDNA sequences (see all 451):

    AI290413 BM855122 AI365049 CR623939 BI057176 BQ950953 BE296693 CR592541 
    BE560690 AA469083 AI084871 AK027767 AI828972 AI344280 BM819888 AI860840 
    BM849355 AW247906 BE560076 W93340 BG013990 AA873243 BM818827 BE397065 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CPSF3L (see all 36)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c · 7d · 7e · 7f ^ 8a · 8b ·
    SP1:                                                                    -                 -     -     -                                         -               
    SP2:                          -     -     -     -                       -                 -     -     -                                         -               
    SP3:                                -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -               
    SP4:                          -     -     -     -                       -     -     -     -     -     -     -     -     -     -     -     -     -     -     -   
    SP5:                                                                                                                                                            

    ExUns: 8c · 8d ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11a · 11b · 11c · 11d ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b ^
    SP1:                          -     -                 -                 -     -     -                                   -                                       
    SP2:                          -     -                 -                 -     -     -                                                                           
    SP3:                          -     -                 -                 -     -     -                                                                           
    SP4:  -     -     -     -     -     -                 -                 -     -     -                                   -                                       
    SP5:                                                                    -     -     -                                   -                                       

    ExUns: 19 ^ 20a · 20b · 20c ^ 21a · 21b ^ 22
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:  -                                       


    ECgene alternative splicing isoforms for CPSF3L

    (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)
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    CPSF3L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACACACGCAA
    CPSF3L Expression
    About this image


    CPSF3L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Mature Sertoli Cells Seminiferous Tubules
     
     Ovary (Reproductive System)
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    CPSF3L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CPSF3L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.6449
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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 eukaryotes.

    Orthologs for CPSF3L gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cpsf3l1 , 5 cleavage and polyadenylation specific factor 3-like less1, 5 87.11(n)1
    97.17(a)1
      4 (87.66 cM)5
    719571  NM_028020.31  NP_082296.11 
     1558695465 
    chicken
    (Gallus gallus)
    Aves CPSF3L1 cleavage and polyadenylation specific factor 3-like less 78.67(n)
    92(a)
      419418  NM_001012836.1  NP_001012854.1 
    lizard
    (Anolis carolinensis)
    Reptilia CPSF3L6
    cleavage and polyadenylation specific factor 3-lik...
    87(a)
    1 ↔ 1
    GL343760.1(110632-137199)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.92052 Xenopus laevis transcribed sequence with weak similarity to protein spQ9UKF6 (H.sapiens) CPSC_HUMAN Cleavage and polyadenylation specificity factor, 73 kDa subunit (CPSF 73 kDa subunit) less 75.15(n)    BX844337.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.201572 Transcribed sequence with weak similarity to protein spQ9UKF6 (H.sapiens) CPSC_HUMAN Cleavage and polyadenylation specificity factor, 73 kDa subunit (CPSF 73 kDa subunit) less 80.47(n)    CK024903.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta IntS111 Integrator 11 68.19(n)
    68.75(a)
      43506  NM_143464.4  NP_651721.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F10B5.81 F10B5.8 57.54(n)
    61.68(a)
      174310  NM_063305.6  NP_495706.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YSH16
    Putative endoribonuclease, subunit of the mRNA cle...
    22(a)
    1 → many
    XII(697156-699495) YLR277C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CPSF73-II1 CPSF73-II 52.32(n)
    47.17(a)
      814702  NM_126234.2  NP_178282.2 
    rice
    (Oryza sativa)
    Liliopsida Os.278232 Oryza sativa (japonica cultivar-group) cDNA cloneJ033033M06, full insert sequence less 73.39(n)    AK101306.1 


    ENSEMBL Gene Tree for CPSF3L (if available)
    TreeFam Gene Tree for CPSF3L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CPSF3L gene
    CPSF32  
    1 SIMAP similar gene for CPSF3L using alignment to 21 protein entries:     INT11_HUMAN (see all proteins):
    CPSF3

    Find genes that share paralogs with CPSF3L           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 CPSF3L (see all 394)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1136433301,2
    C--1247605(+) GCCCAG/CCTCTT 5 -- spd11Minor allele frequency- C:0.00CSA 1
    rs2016883371,2
    C--1247626(+) TAGACA/GCGCAA 10 R syn10--------
    rs1998188781,2
    C--1247641(+) GTCTCC/TTGCTC 10 Q syn10--------
    rs1448259201,2
    C,F--1247736(+) GGACAC/TCAGCC 10 M V mis11Minor allele frequency- T:0.00NA 3464
    rs1463878421,2
    C--1247780(+) CGCAGC/TAGCGG 5 -- int10--------
    rs1394228231,2
    C--1247805(+) GAGACC/TGTCCT 5 -- int10--------
    rs1482747221,2
    C--1247820(+) CTCACG/ACTGTC 10 /S syn11Minor allele frequency- A:0.00NA 3000
    rs2021188361,2
    C--1247826(+) CTGTCC/TTTCAT 10 K syn10--------
    rs1872643761,2
    --1247839(+) TCAGGG/TTGCCG 10 N T mis10--------
    rs1500272751,2
    --1247886(+) CCTGCA/GGAGGA 5 -- int10--------

    HapMap Linkage Disequilibrium report for CPSF3L (1246965 - 1260071 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CPSF3L (see all 31):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv37n71CNV Loss21882294
    dgv17n71CNV Loss21882294
    nsv470680CNV Loss18288195
    nsv870639CNV Loss21882294
    dgv29n71CNV Loss21882294
    dgv36n71CNV Loss21882294
    dgv35n71CNV Loss21882294
    nsv482937CNV Loss15286789
    dgv39n71CNV Loss21882294
    dgv12n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CPSF3L
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611354    OMIM disorders: --

    3 diseases for CPSF3L:    
    About MalaCards
    meningococcal meningitis    anal fistula    factor viii deficiency


    Find genes that share disorders with CPSF3L           About GenesLikeMe

    4 Novoseek inferred disease relationships for CPSF3L gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    complex partial seizures 46.2 2 1734323 (1), 17608301 (1)
    stenoses 25.9 1 7790539 (1)
    abscess 23.8 1 11504291 (1)
    fistula 21 5 17629041 (1), 7720446 (1), 11504291 (1)

    Genetic Association Database (GAD): CPSF3L
    Human Genome Epidemiology (HuGE) Navigator: CPSF3L (3 documents)

    Export disorders for CPSF3L 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 CPSF3L gene, integrated from 10 sources (see all 65):
    (articles sorted by number of sources associating them with CPSF3L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A CPSF-73 homologue is required for cell cycle progression but not cell growth and interacts with a protein having features of CPSF- 100. (PubMed id 15684398)1, 2, 3 Dominski Z.... Marzluff W.F. (Mol. Cell. Biol. 2005)
    2. Integrator, a multiprotein mediator of small nuclear RNA processing, associates with the C-terminal repeat of RNA polymerase II. (PubMed id 16239144)1, 2, 3 Baillat D....Shiekhattar R. (Cell 2005)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. 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. (Genome Res. 2004)
    7. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    8. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    9. The SOX2-interactome in brain cancer cells identifies the requirement of MSI2 and USP9X for the growth of brain tumor cells. (PubMed id 23667531)1 Cox J.L....Rizzino A. (PLoS ONE 2013)
    10. snRNA 3' end formation requires heterodimeric association of integrator subunits. (PubMed id 22252320)1 Albrecht T.R. and Wagner E.J. (Mol. Cell. Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 54973 HGNC: 26052 AceView: FLJ20542 Ensembl:ENSG00000127054 euGenes: HUgn54973
    ECgene: CPSF3L H-InvDB: CPSF3L

    (According to HUGE)
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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)
    About This Section

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    NameDescription
    PharmGKB entry for CPSF3L Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CPSF3L Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CPSF3L gene:
    Search GeneIP for patents involving CPSF3L

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



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