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

CTDP1 Gene

protein-coding   GIFtS: 62
GCID: GC18P077494

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide...

 Explore 7 diseases affiliated with
CTDP1 via our new
 Human Malady Compendium 
Biological research products
for CTDP1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
CTD (Carboxy-Terminal Domain, RNA Polymerase II, Polypeptide A) Phosphatase,
Subunit 11 2
     Serine Phosphatase FCP1a2
FCP11 2 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CTDP1:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.1  NT_025028.14  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CTDP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Nucleus. Cytoplasm, cytoskeleton, 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
3 PDB 3D structures from and Proteopedia for CTDP1:
1J2X (3D)        1ONV (3D)        2K7L (3D)    
Secondary accessions: A8MY97 Q7Z644 Q96BZ1 Q9Y6F5
Alternative splicing: 4 isoforms:  Q9Y5B0-1   Q9Y5B0-2   Q9Y5B0-3   Q9Y5B0-4   

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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y5B0

  • CTDP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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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    Uscn Proteins for CTDP1

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (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--


    CTDP1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CTDP1 for domains           About GeneDecksing

    5 InterPro domains/families:
     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 families:
    IPB001357 BRCT domain
    IPB004274 NLI interacting factor


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


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

    Function Summary:

         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
    Catalytic activity: A phosphoprotein + H(2)O = a protein + phosphate

    Enzyme Number (IUBMB): EC 3.1.3.161

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003899DNA-directed RNA polymerase activity TAS9765293
    GO:0005515protein binding ----
    GO:0008420CTD phosphatase activity IDA12721286


    CTDP1 for ontologies           About GeneDecksing


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


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

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Formation of RNA Pol II elongation complex
    8/16 pathways (see all 16)
    RNA Polymerase II Transcription Elongation1.00
    HIV-1 elongation arrest and recovery0.74
    Formation of HIV-1 elongation complex in the absence of HIV-1 Tat1.00
    Pausing and recovery of HIV-1 elongation0.74
    Formation of RNA Pol II elongation complex 1.00
    Elongation arrest and recovery0.74
    Formation of HIV-1 elongation complex containing HIV-1 Tat0.98
    RNA Polymerase II Pre-transcription Events0.72
    2Late Phase of HIV Life Cycle
    Late Phase of HIV Life Cycle1.00
    HIV Life Cycle0.90
    3Transcription
    Transcription1.00
    RNA Polymerase II Transcription0.69
    4HIV Infection
    HIV Infection1.00
    5Disease
    Disease1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/23        Reactome Pathways for CTDP1 (see all 23)
        Formation of RNA Pol II elongation complex
    Pausing and recovery of Tat-mediated HIV-1 elongation
    Tat-mediated HIV-1 elongation arrest and recovery
    Tat-mediated elongation of the HIV-1 transcript
    Late Phase of HIV Life Cycle



    CTDP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CTDP1

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

    5/91 Interacting proteins for CTDP1 (Q9Y5B02, 3 ENSP000002995434) via UniProtKB, MINT, STRING, and/or I2D (see all 91)
    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): 5/9 biological process terms (GO ID links to tree view) (see all 9):    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:0007067mitosis IEA--
    GO:0010458exit from mitosis IMP--


    CTDP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CTDP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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 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)

    Search CenterWatch for drugs/clinical trials and news about CTDP1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    About This Section

    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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    Additional cDNA 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 

    24/122 AceView cDNA sequences (see all 122):

    BU857066 BM873335 BC052576 AA906696 CK300775 AI093288 BQ352227 AW009110 
    BQ014320 CR602644 BQ709073 BI793020 BQ082167 AW129505 AW444978 BC032515 
    BQ708848 CB123966 BM984547 BI792919 BE887531 CO249597 AA974914 AK123180 

    GeneLoc Exon Structure

    5/9 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CTDP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See CTDP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CTDP1

    SOURCE GeneReport for Unigene cluster: Hs.465490

    UniProtKB/Swiss-Prot: CTDP1_HUMAN, Q9Y5B0
    Tissue specificity: Ubiquitously expressed. Isoform 3 is expressed in heart, brain, placenta, lung, liver, skeletal
    muscle, kidney and placenta

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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CTDP1 gene from 9/31 species (see all 31)    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 79.01(n)1
    79.89(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 67.23(n)
    71.27(a)
      420813  XM_418905.3  XP_418905.3 
    lizard
    (Anolis carolinensis)
    Reptilia CTDP16
    --
    65(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
    Fcp11
    CTD phosphatase3
    CG12252-PA1
    35(a)3
    50.22(n)1
    41.75(a)1
      60D53
    379251  NM_138090.11  NP_611934.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F36F2.63
    fcp-11
    Protein FCP-11 39(a)3
    46.73(n)1
    42.11(a)1
      I(9013061-9016767)3
    1727191  NM_060022.31  NP_492423.21 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CPL41 RNA polymerase II C-terminal domain phosphatase-like more 42.25(n)
    29.67(a)
      5008312  NM_001085295.1  NP_001078764.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g03905001 hypothetical protein 43.9(n)
    29.51(a)
      4338679  NM_001061975.1  NP_001055440.1 


    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
      --

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

    10/2016 NCBI SNPs in CTDP1 are shown (see all 2016    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1119052861,2
    C,--74063824(+) TAAAAT/GTTATA 1 -- int14Minor allele frequency- G:0.06NA WA EA 360
    rs1132977201,2
    C,--74063828(+) ATTTAT/CATACG 1 -- int14Minor allele frequency- C:0.06NA WA EA 360
    rs1134325771,2
    C,--74063832(+) ATATAC/TGTAAG 1 -- int14Minor allele frequency- T:0.06NA WA EA 360
    rs748987441,2
    C,--74063854(+) ATAGTG/AAAAAA 1 -- int11Minor allele frequency- A:0.50WA 2
    rs770677251,2
    C,F,--74064130(+) TTAATT/CCACGT 1 -- int14Minor allele frequency- C:0.06NA CSA WA 242
    rs756318741,2
    C,--74064368(+) AGGTCG/CGAGGA 1 -- int13Minor allele frequency- C:0.06NA WA 240
    rs560063411,2
    C,F,--74064973(+) ACCGAG/TAGGAA 1 -- us2k14Minor allele frequency- T:0.36NA 126
    rs796442631,2
    C,--74065262(+) TCCGGG/CGCCTC 1 -- us2k11Minor allele frequency- C:0.50NA 2
    rs739727101,2
    C,--74065453(+) AGGACC/GCCCGG 1 -- us2k12Minor allele frequency- G:0.13WA 120
    rs1137621531,2
    C,F,--74065490(+) CGCCCC/TTGGTG 1 -- us2k15Minor allele frequency- T:0.06NA CSA WA EA 362

    HapMap Linkage Disequilibrium report for CTDP1 (77439801 - 77514510 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 11 variations for CTDP1
         4 CNVs: 73228 102750 102749 73229
         7 Indels: 26158 45714 42990 73227 26159 102748 61654
    Human Gene Mutation Database (HGMD): CTDP1

    Locus Specific Mutation Databases (LSDB): CTDP1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
    About This Section

    CTDP1 for disorders           About GeneDecksing

    OMIM gene information: 604927   
    OMIM disorders: 604168  
    UniProtKB/Swiss-Prot: CTDP1_HUMAN, Q9Y5B0
  • Defects in CTDP1 are a cause of congenital cataracts facial dysmorphism and neuropathy syndrome (CCFDN)
  • [MIM:604168]. CCFDN is an autosomal recessive developmental disorder that occurs in an endogamous group of Vlax Roma
    (Gypsies). The syndrome is 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)

    7 diseases for CTDP1:    About MalaCards
    congenital cataracts, facial dysmorphism, and neuropathy    congenital cataracts    cataract    neuropathy
    pulmonary edema    hypogonadism    immunodeficiency

    1 disease from the University of Copenhagen DISEASES database for CTDP1:
    Neuropathy
    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)
    About This Section

    PubMed articles for CTDP1 gene, integrated from 9 sources (see all 67):
    (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. (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. (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. (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. (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. (2012)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    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. (2003)
    9. A protein phosphatase functions to recycle RNA polymerase II. (PubMed id 10385623)1, 2 Cho H.... Reinberg D. (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. (1997)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9150 HGNC: 2498 AceView: CTDP1 Ensembl:ENSG00000060069 euGenes: HUgn9150
    ECgene: CTDP1 H-InvDB: CTDP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CTDP1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CTDP1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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