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CTDP1 Gene

protein-coding   GIFtS: 64
GCID: GC18P077494

CTD (Carboxy-Terminal Domain, RNA Polymerase II, Polypeptide...

  See CTDP1-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
CTD (Carboxy-Terminal Domain, RNA Polymerase II, Polypeptide A)
Phosphatase, Subunit 11 2
     Serine Phosphatase FCP1a2
FCP12 3 5     TFIIF-Associating CTD Phosphatase 12
CCFDN2 5     Transcription Factor IIF-Associating CTD Phosphatase 12
CTD Of POLR2A, Phosphatase Of, Subunit 12     EC 3.1.3.163
RNA Polymerase II Subunit A C-Terminal Domain Phosphatase2     TFIIF-Associating CTD Phosphatase3

External Ids:    HGNC: 24981   Entrez Gene: 91502   Ensembl: ENSG000000600697   OMIM: 6049275   UniProtKB: Q9Y5B03   

Export aliases for CTDP1 gene to outside databases

Previous GC identifers: GC18P076954 GC18P077174 GC18P075538 GC18P075540 GC18P074064


(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 CTDP1 Gene:
This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription
initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of
POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this
gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively
spliced transcript variants encoding different isoforms have been described for this gene. (provided by RefSeq,
Feb 2011)

GeneCards Summary for CTDP1 Gene:
CTDP1 (CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1) is a protein-coding gene. Diseases associated with CTDP1 include congenital cataracts, facial dysmorphism, and neuropathy. GO annotations related to this gene include DNA-directed RNA polymerase activity and CTD phosphatase activity.

UniProtKB/Swiss-Prot: CTDP1_HUMAN, Q9Y5B0
Function: Processively dephosphorylates 'Ser-2' and 'Ser-5' of the heptad repeats YSPTSPS in the C-terminal domain
of the largest RNA polymerase II subunit. This promotes the activity of RNA polymerase II. Plays a role in the
exit from mitosis by dephosphorylating crucial mitotic substrates (USP44, CDC20 and WEE1) that are required for
M-phase-promoting factor (MPF)/CDK1 inactivation

Gene Wiki entry for CTDP1 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_000018.9  NT_010966.15  NC_018929.2  NT_187617.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the CTDP1 gene promoter:
         ER-alpha   AhR   USF1   Pax-5   c-Ets-1   Roaz   Arnt   HEN1   AREB6   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCTDP1 promoter sequence
   Search Chromatin IP Primers for CTDP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CTDP1


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

Entrez Gene cytogenetic band: 18q23   Ensembl cytogenetic band:  18q23   HGNC cytogenetic band: 18q23

CTDP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CTDP1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P077494:  view genomic region     (about GC identifiers)

Start:
77,439,801 bp from pter      End:
77,514,510 bp from pter
Size:
74,710 bases      Orientation:
plus 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: CTDP1_HUMAN, Q9Y5B0 (See protein sequence)
Recommended Name: RNA polymerase II subunit A C-terminal domain phosphatase  
Size: 961 amino acids; 104399 Da
Subunit: Homodimer. Interacts with GTF2F1. Interacts with WDR77, SNRPB and SNRNP70
Sequence caution: Sequence=AAC64549.1; Type=Miscellaneous discrepancy; Note=Cloning artifact;
3 PDB 3D structures from and Proteopedia for CTDP1:
1J2X (3D)        1ONV (3D)        2K7L (3D)    
Secondary accessions: A8MY97 Q7Z644 Q96BZ1 Q9Y6F5
Alternative splicing: 2 isoforms:  Q9Y5B0-1   Q9Y5B0-4   

Explore the universe of human proteins at neXtProt for CTDP1: NX_Q9Y5B0

Explore proteomics data for CTDP1 at MOPED

Post-translational modifications: 

  • Phosphorylated. In the presence of TFIIF, the phosphorylated form has an increased CTD phosphatase activity. The
    phosphorylation is required for the physical interaction with GTF2F11
  • Ubiquitination2 at Lys653
  • Modification sites at PhosphoSitePlus

  • See CTDP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001189433.1  NP_004706.3  NP_430255.2  

    ENSEMBL proteins: 
     ENSP00000299543   ENSP00000075430   ENSP00000465119   ENSP00000467563  
    Reactome Protein details: Q9Y5B0

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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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    HGNC Gene Families:
    CTD: Serine/threonine phosphatases / CTD aspartate-based phosphatases

    5 InterPro protein domains:
     IPR011947 FCP1_euk
     IPR023214 HAD-like_dom
     IPR015388 FCP1_C
     IPR004274 NIF
     IPR001357 BRCT_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y5B0

    ProtoNet protein and cluster: Q9Y5B0

    2 Blocks protein domains:
    IPB001357 BRCT domain
    IPB004274 NLI interacting factor


    UniProtKB/Swiss-Prot: CTDP1_HUMAN, Q9Y5B0
    Similarity: Contains 1 BRCT domain
    Similarity: Contains 1 FCP1 homology domain


    Find genes that share domains with CTDP1           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: CTDP1_HUMAN, Q9Y5B0
    Function: Processively dephosphorylates 'Ser-2' and 'Ser-5' of the heptad repeats YSPTSPS in the C-terminal domain
    of the largest RNA polymerase II subunit. This promotes the activity of RNA polymerase II. Plays a role in the
    exit from mitosis by dephosphorylating crucial mitotic substrates (USP44, CDC20 and WEE1) that are required for
    M-phase-promoting factor (MPF)/CDK1 inactivation
    Catalytic activity: [a protein]-serine/threonine phosphate + H(2)O = [a protein]-serine/threonine + phosphate

         Enzyme Number (IUBMB): EC 3.1.3.161

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003899DNA-directed RNA polymerase activity TAS9765293
    GO:0004721phosphoprotein phosphatase activity ----
    GO:0005515protein binding ----
    GO:0008420CTD phosphatase activity IDA12721286
         
    Find genes that share ontologies with CTDP1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for CTDP1:
     Decreased POU5F1-GFP protein e  Decreased p24 protein expressi  Increased circadian period len 

    Animal Models:
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    Block miRNA regulation of human, mouse, rat CTDP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CTDP1 (see all 17):
    hsa-miR-548am hsa-miR-548d-3p hsa-miR-520d-5p hsa-miR-499-3p hsa-miR-411 hsa-miR-1271 hsa-miR-138-2* hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidCTDP1 3' UTR sequence
    Inhib. RNA
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    (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
    CTDP1_HUMAN, Q9Y5B0: Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm,
    cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Midbody. Note=Found at centrosomes in prometaphase,
    at spindle and spindle poles in metaphase and at spindle midzone and midbody in anaphase and telophase-G1
    respectively
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000922spindle pole IDA--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with CTDP1           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 CTDP1 About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Formation of RNA Pol II elongation complex
    Formation of the Early Elongation Complex0.77
    RNA Polymerase II Pre-transcription Events0.73
    Formation of the HIV-1 Early Elongation Complex0.77
    Pausing and recovery of HIV elongation0.73
    Formation of HIV-1 elongation complex containing HIV-1 Tat0.77
    HIV elongation arrest and recovery0.73
    Tat-mediated elongation of the HIV-1 transcript0.77
    Pausing and recovery of Tat-mediated HIV elongation0.72
    2HIV Life Cycle
    HIV Life Cycle0.91
    HIV Infection0.62
    Late Phase of HIV Life Cycle0.91
    3Gene Expression
    Gene Expression0.40
    4Disease
    Disease


    Find genes that share SuperPaths with CTDP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected Reactome Pathways for CTDP1 (see all 13)
        Pausing and recovery of Tat-mediated HIV elongation
    Tat-mediated HIV elongation arrest and recovery
    Formation of the Early Elongation Complex
    Formation of RNA Pol II elongation complex
    Tat-mediated elongation of the HIV-1 transcript


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CTDP1
    Interactions:

        GeneGlobe Interaction Network for CTDP1

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

    Selected Interacting proteins for CTDP1 (Q9Y5B02, 3 ENSP000002995434) via UniProtKB, MINT, STRING, and/or I2D (see all 158)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053, ENSP000003529804I2D: score=1 STRING: ENSP00000352980
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006366transcription from RNA polymerase II promoter TAS--
    GO:0006368transcription elongation from RNA polymerase II promoter TAS--
    GO:0006470protein dephosphorylation IDA--
    GO:0010458exit from mitosis IMP--
    GO:0010467gene expression TAS--

    Find genes that share ontologies with CTDP1           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 CTDP1

    3 HMDB Compounds for CTDP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    2 Novoseek inferred chemical compound relationships for CTDP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 26.6 3 15723518 (1), 16939648 (1), 12351650 (1)
    threonine 20.2 2 15723518 (2)



    Find genes that share compounds with CTDP1           About GenesLikeMe



    (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 CTDP1 gene (3 alternative transcripts): 
    NM_001202504.1  NM_004715.4  NM_048368.3  

    Unigene Cluster for CTDP1:

    CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
    Hs.465490  [show with all ESTs]
    Unigene Representative Sequence: NM_004715
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000299543(uc002lnh.2 uc002lni.2 uc010drd.2 uc021ult.1)
    ENST00000075430 ENST00000591598 ENST00000590635 ENST00000587623 ENST00000590599
    ENST00000585951
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    hsa-miR-548am hsa-miR-548d-3p hsa-miR-520d-5p hsa-miR-499-3p hsa-miR-411 hsa-miR-1271 hsa-miR-138-2* hsa-miR-9
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      QuantiTect SYBR Green Assays in human, mouse, rat CTDP1
      QuantiFast Probe-based Assays in human, mouse, rat CTDP1

    Additional mRNA sequence: 

    AF081287.1 AF154115.1 AK123180.1 BC015010.1 BC032515.1 BC047999.1 BC052576.1 BC063447.1 

    10 DOTS entries:

    DT.97799180  DT.95159868  DT.95363116  DT.99973672  DT.100784054  DT.100784053  DT.121091640  DT.95077512 
    DT.95108466  DT.95144042 

    Selected AceView cDNA sequences (see all 122):

    BU857066 BM873335 BC052576 AA906696 CK300775 AI093288 BQ352227 BQ014320 
    AW009110 BQ709073 CR602644 BQ082167 BI793020 AW129505 AA043370 BU860320 
    CO249597 AK123180 AA974914 AI092364 BI792919 BE887531 AW444978 BC032515 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CTDP1 (see all 9)    About this scheme

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


    ECgene alternative splicing isoforms for CTDP1

    (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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    CTDP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CTDP1 Expression
    About this image

    CTDP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CTDP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.465490

    UniProtKB/Swiss-Prot: CTDP1_HUMAN, Q9Y5B0
    Tissue specificity: Ubiquitously expressed

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTDP1

    (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 CTDP1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ctdp11 , 5 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide more1, 5 78.66(n)1
    79.41(a)1
      18 (53.48 cM)5
    676551  NM_026295.21  NP_080571.21 
     804079595 
    chicken
    (Gallus gallus)
    Aves CTDP11 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide more 66.47(n)
    70.32(a)
      420813  XM_418905.4  XP_418905.4 
    lizard
    (Anolis carolinensis)
    Reptilia CTDP16
    CTD (carboxy-terminal domain, RNA polymerase II, p...
    64(a)
    1 ↔ 1
    4(52783718-52828842)
    African clawed frog
    (Xenopus laevis)
    Amphibia AF348120.12   -- 73.65(n)    AF348120.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BM957098.12   -- 73.9(n)    BM957098.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG122523 CTD phosphatase 35(a)   60D5   --
    worm
    (Caenorhabditis elegans)
    Secernentea F36F2.63   -- 39(a)   I(9013061-9016767)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FCP1(YMR277W)4 Carboxy-terminal domain (CTD) phosphatase, essential more   --   13(820256-822454) 855320  NP_014004.1 


    ENSEMBL Gene Tree for CTDP1 (if available)
    TreeFam Gene Tree for CTDP1 (if available)

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

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    (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 CTDP1 (see all 2358)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs99638961,2
    C,F,H--77441802(+) TCCAGT/GCCATG 3 -- int16Minor allele frequency- G:0.02NS EA CSA WA 527
    rs1840176201,2
    --77441807(+) TCCATA/GGGCGG 3 -- int10--------
    rs4962811,2
    C,F,A,H--77441822(-) GCAAGC/GATTTA 3 -- int131Minor allele frequency- G:0.44NS EA NA WA CSA 2732
    rs1887560911,2
    --77441838(+) AGAAAC/GCCACA 3 -- int10--------
    rs1461532781,2
    --77441846(+) ACAGAC/TGGTGC 3 -- int10--------
    rs756912661,2
    C,F--77441929(+) GCGTTC/GTGGGG 3 -- int11Minor allele frequency- G:0.13EA 120
    rs1116849001,2
    C,F--77441956(+) TGTGAC/TGTCAG 3 -- int11Minor allele frequency- T:0.50CSA 2
    rs1135093021,2
    C,F--77442007(+) GCCATG/AGATCC 3 -- int11Minor allele frequency- A:0.50CSA 2
    rs1463290711,2
    C--77442063(+) TGTGCC/TCTGGC 3 -- int10--------
    rs1176035021,2
    C,F--77442081(+) GTCGTC/TTGTTT 3 -- int11Minor allele frequency- T:0.01NA 120

    HapMap Linkage Disequilibrium report for CTDP1 (77439801 - 77514510 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CTDP1 (see all 50):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2656662CNV Deletion23128226
    esv988016CNV Deletion20482838
    esv2717682CNV Deletion23290073
    esv2717688CNV Deletion23290073
    esv2717685CNV Deletion23290073
    esv996423CNV Deletion20482838
    esv2741776CNV Deletion23290073
    esv2717679CNV Deletion23290073
    esv2717687CNV Deletion23290073
    esv1626049CNV Deletion17803354

    Human Gene Mutation Database (HGMD): CTDP1
    Locus Specific Mutation Databases (LSDB): CTDP1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CTDP1
    DNA2.0 Custom Variant and Variant Library Synthesis for CTDP1

    (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: 604927   
    OMIM disorders: 604168  
    UniProtKB/Swiss-Prot: CTDP1_HUMAN, Q9Y5B0
  • Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) [MIM:604168]: An autosomal recessive
    developmental disorder characterized by a complex clinical phenotype with seemingly unrelated features involving
    multiple organs and systems. Developmental abnormalities include congenital cataracts and microcorneae,
    hypomyelination of the peripheral nervous system, impaired physical growth, delayed early motor and intellectual
    development, facial dysmorphism and hypogonadism. Central nervous system involvement, with cerebral and spinal
    cord atrophy, may be the result of disrupted development with superimposed degenerative changes. Affected
    individuals are prone to severe rhabdomyolysis after viral infections and to serious complications related to
    general anesthesia (such as pulmonary edema and epileptic seizures). Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 1 disease for CTDP1:    
    About MalaCards
    congenital cataracts, facial dysmorphism, and neuropathy

    1 disease from the University of Copenhagen DISEASES database for CTDP1:
    Neuropathy

    Find genes that share disorders with CTDP1           About GenesLikeMe

    Genetic Association Database (GAD): CTDP1
    Human Genome Epidemiology (HuGE) Navigator: CTDP1 (3 documents)

    Export disorders for CTDP1 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 CTDP1 gene, integrated from 10 sources (see all 76):
    (articles sorted by number of sources associating them with CTDP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. FCP1, the RAP74-interacting subunit of a human protein phosphatase that dephosphorylates the carboxyl-terminal domain of RNA polymerase IIO. (PubMed id 9765293)1, 2, 3 Archambault J.... Greenblatt J. (J. Biol. Chem. 1998)
    2. The C-terminal domain phosphatase and transcription elongation activities of FCP1 are regulated by phosphorylation. (PubMed id 12591939)1, 2, 9 Friedl E.M.... Reinberg D. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    3. Molecular mechanism of recruitment of TFIIF-associating RNA polymerase C-terminal domain phosphatase (FCP1) by transcription factor IIF. (PubMed id 12591941)1, 2, 9 Kamada K.... Burley S.K. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    4. The FCP1 phosphatase interacts with RNA polymerase II and with MEP50 a component of the methylosome complex involved in the assembly of snRNP. (PubMed id 12560496)1, 2, 9 Licciardo P....Majello B. (Nucleic Acids Res. 2003)
    5. Fcp1-dependent dephosphorylation is required for M-phase-promoting factor inactivation at mitosis exit. (PubMed id 22692537)1, 2 Visconti R.... Grieco D. (Nat. Commun. 2012)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    7. 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)
    8. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. (PubMed id 14517542)1, 2 Varon R.... Kalaydjieva L. (Nat. Genet. 2003)
    9. A protein phosphatase functions to recycle RNA polymerase II. (PubMed id 10385623)1, 2 Cho H.... Reinberg D. (Genes Dev. 1999)
    10. An essential component of a C-terminal domain phosphatase that interacts with transcription factor IIF in Saccharomyces cerevisiae. (PubMed id 9405607)1, 3 Archambault J....Greenblatt J. (Proc. Natl. Acad. Sci. U.S.A. 1997)

    (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: 9150 HGNC: 2498 AceView: CTDP1 Ensembl:ENSG00000060069 euGenes: HUgn9150
    ECgene: CTDP1 H-InvDB: CTDP1

    (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 CTDP1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CTDP1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CTDP1 gene:
    Search GeneIP for patents involving CTDP1

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



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