CTDP1 Gene (Protein Coding)

CTD Phosphatase Subunit 1

GC18P079679
GIFtS:
41
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, fa... See more...

Aliases for CTDP1 Gene

Aliases for CTDP1 Gene

  • CTD Phosphatase Subunit 1 2 3 5
  • FCP1 2 3 4
  • CTD (Carboxy-Terminal Domain, RNA Polymerase II, Polypeptide A) Phosphatase, Subunit 1 2 3
  • RNA Polymerase II Subunit A C-Terminal Domain Phosphatase 3 4
  • Transcription Factor IIF-Associating CTD Phosphatase 1 3
  • CTD Of POLR2A, Phosphatase Of, Subunit 1 3
  • TFIIF-Associating CTD Phosphatase 1 3
  • TFIIF-Associating CTD Phosphatase 4
  • Serine Phosphatase FCP1a 3
  • EC 3.1.3.16 4
  • CCFDN 3
  • CTDP1 5

External Ids for CTDP1 Gene

Previous GeneCards Identifiers for CTDP1 Gene

  • GC18P076954
  • GC18P077494
  • GC18P077174
  • GC18P075538
  • GC18P075540
  • GC18P074064

Summaries for CTDP1 Gene

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 Phosphatase Subunit 1) is a Protein Coding gene. Diseases associated with CTDP1 include Congenital Cataracts, Facial Dysmorphism, And Neuropathy and Charcot-Marie-Tooth Disease/Hereditary Motor And Sensory Neuropathy. Among its related pathways are HIV Transcription Elongation and Gene Expression. Gene Ontology (GO) annotations related to this gene include phosphoprotein phosphatase activity and RNA polymerase II CTD heptapeptide repeat phosphatase activity.

UniProtKB/Swiss-Prot Summary for CTDP1 Gene

  • 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

Additional gene information for CTDP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CTDP1 Gene

Genomics for CTDP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CTDP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH18J079392 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 607.2 -279.6 -279637 14.4 SP1 PRDM10 ZNF629 RFX1 KDM1A POLR2A BACH1 LARP7 ZIC2 PATZ1 NFATC1 CTDP1 LOC107985163 MN297545 lnc-PQLC1-16 ATP9B ADNP2 RBFA PARD6G ENSG00000267287
GH18J079677 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 644.7 +0.2 238 5.1 SP1 CREB1 GATAD2A TEAD4 PRDM10 ZNF629 TFE3 SIX5 IKZF1 KDM1A CTDP1 ENSG00000274828 LOC284241 LOC105376875 lnc-NFATC1-2 ATP9B
GH18J079682 Enhancer 0.8 FANTOM5 ENCODE 58.3 +3.2 3244 0.3 IKZF2 EED RUNX3 CTCF IKZF1 SPI1 GABPA TBX21 ATF7 POLR2A lnc-NFATC1-2 CTDP1 SLC66A2 NFATC1 ADNP2 LOC105376875 RF00994-454 KCNG2
GH18J079686 Enhancer 0.4 ENCODE 24.6 +4.6 4589 0.4 RUNX3 IKZF1 EBF1 TBX21 CTDP1 LOC105376875 lnc-NFATC1-2 RF00994-454 KCNG2
GH18J079657 Enhancer 0.6 Ensembl ENCODE 15.3 -22.2 -22202 1.2 CTCF MNT YY1 SIN3A CTDP1 HSBP1L1 ENSG00000274828 LOC284241 HSALNG0122774 NFATC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CTDP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CTDP1

Top Transcription factor binding sites by QIAGEN in the CTDP1 gene promoter:
  • AhR
  • AREB6
  • Arnt
  • c-Ets-1
  • ER-alpha
  • HEN1
  • Pax-5
  • Roaz
  • USF-1
  • USF1

Genomic Locations for CTDP1 Gene

Genomic Locations for CTDP1 Gene
chr18:79,679,803-79,756,625
(GRCh38/hg38)
Size:
76,823 bases
Orientation:
Plus strand
chr18:77,439,801-77,514,510
(GRCh37/hg19)
Size:
74,710 bases
Orientation:
Plus strand

Genomic View for CTDP1 Gene

Genes around CTDP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTDP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTDP1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CTDP1 Gene

Proteins for CTDP1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for CTDP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5B0-CTDP1_HUMAN
    Recommended name:
    RNA polymerase II subunit A C-terminal domain phosphatase
    Protein Accession:
    Q9Y5B0
    Secondary Accessions:
    • A8MY97
    • Q7Z644
    • Q96BZ1
    • Q9Y6F5

    Protein attributes for CTDP1 Gene

    Size:
    961 amino acids
    Molecular mass:
    104399 Da
    Quaternary structure:
    • Homodimer. Interacts with GTF2F1. Interacts with WDR77, SNRPB and SNRNP70.
    SequenceCaution:
    • Sequence=AAC64549.1; Type=Miscellaneous discrepancy; Note=Cloning artifact.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CTDP1 Gene

    Alternative splice isoforms for CTDP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CTDP1 Gene

Protein Expression for CTDP1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CTDP1 Gene

  • Phosphorylated. In the presence of TFIIF, the phosphorylated form has an increased CTD phosphatase activity. The phosphorylation is required for the physical interaction with GTF2F1.
  • Ubiquitination at Lys653
  • Modification sites at PhosphoSitePlus

Other Protein References for CTDP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CTDP1 Gene

Domains & Families for CTDP1 Gene

Gene Families for CTDP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for CTDP1 Gene

InterPro:
Blocks:
  • BRCT domain
  • NLI interacting factor
ProtoNet:

Suggested Antigen Peptide Sequences for CTDP1 Gene

GenScript: Design optimal peptide antigens:
  • TFIIF-associating CTD phosphatase (CTDP1_HUMAN)
genes like me logo Genes that share domains with CTDP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CTDP1 Gene

Function for CTDP1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
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  6. Cell Line

Molecular function for CTDP1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + O-phospho-L-seryl-[protein] = L-seryl-[protein] + phosphate; Xref=Rhea:RHEA:20629, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15377, ChEBI:CHEBI:29999, ChEBI:CHEBI:43474, ChEBI:CHEBI:83421; EC=3.1.3.16;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate; Xref=Rhea:RHEA:47004, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15377, ChEBI:CHEBI:30013, ChEBI:CHEBI:43474, ChEBI:CHEBI:61977; EC=3.1.3.16;.

Enzyme Numbers (IUBMB) for CTDP1 Gene

Phenotypes From GWAS Catalog for CTDP1 Gene

Gene Ontology (GO) - Molecular Function for CTDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001096 TFIIF-class transcription factor complex binding IPI 12732728
GO:0004721 phosphoprotein phosphatase activity IEA,TAS --
GO:0005515 protein binding IPI 9765293
GO:0008420 RNA polymerase II CTD heptapeptide repeat phosphatase activity IEA,IDA 9765293
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with CTDP1: view
genes like me logo Genes that share phenotypes with CTDP1: view

Human Phenotype Ontology for CTDP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTDP1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for CTDP1 Gene

Localization for CTDP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTDP1 Gene

Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTDP1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CTDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA,IDA 22692537
GO:0005634 nucleus IEA,IDA 15723517
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 22692537
genes like me logo Genes that share ontologies with CTDP1: view

Pathways & Interactions for CTDP1 Gene

genes like me logo Genes that share pathways with CTDP1: view

SIGNOR curated interactions for CTDP1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CTDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006366 transcription by RNA polymerase II TAS --
GO:0006368 transcription elongation from RNA polymerase II promoter TAS --
GO:0006470 protein dephosphorylation IDA 9765293
GO:0007049 cell cycle IEA --
GO:0010458 exit from mitosis IMP 22692537
genes like me logo Genes that share ontologies with CTDP1: view

Drugs & Compounds for CTDP1 Gene

Products:

  1. Drug

(5) Drugs for CTDP1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Calcium Nutra 6556

(1) Additional Compounds for CTDP1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
 14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with CTDP1: view

Transcripts for CTDP1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CTDP1 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTDP1

Alternative Splicing Database (ASD) splice patterns (SP) for CTDP1 Gene

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: -
SP6:
SP7: - - - -
SP8: - - -
SP9:

Relevant External Links for CTDP1 Gene

GeneLoc Exon Structure for
CTDP1

Expression for CTDP1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CTDP1 Gene

mRNA expression in normal human tissues for CTDP1 Gene
mRNA expression by GTEx for CTDP1 GenemRNA expression by BioGPS for CTDP1 Gene

mRNA differential expression in normal tissues according to GTEx for CTDP1 Gene

This gene is overexpressed in Whole Blood (x5.7).

Protein differential expression in normal tissues from HIPED for CTDP1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (24.0), Plasma (13.0), and Lymph node (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CTDP1 Gene



Protein tissue co-expression partners for CTDP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CTDP1

SOURCE GeneReport for Unigene cluster for CTDP1 Gene:

Hs.465490

mRNA Expression by UniProt/SwissProt for CTDP1 Gene:

Q9Y5B0-CTDP1_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for CTDP1 Gene

  • Intestine(4.3)
  • Liver(4.3)
  • Nervous system(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CTDP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pituitary gland
  • skull
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • kidney
  • liver
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with CTDP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CTDP1 Gene

Orthologs for CTDP1 Gene

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

Orthologs for CTDP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CTDP1 30 31
  • 98.75 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CTDP1 30 31
  • 79.81 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ctdp1 30
  • 78.9 (n)
Mouse
(Mus musculus)
 Mammalia Ctdp1 30 17 31
  • 78.66 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CTDP1 30
  • 78.22 (n)
Oppossum
(Monodelphis domestica)
 Mammalia CTDP1 31
  • 71 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CTDP1 31
  • 68 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CTDP1 30 31
  • 66.47 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CTDP1 31
  • 64 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii ctdp1 30 31
  • 63.53 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG12252 32
  • 35 (a)
Fcp1 31
  • 29 (a)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea F36F2.6 32
  • 39 (a)
fcp-1 31
  • 30 (a)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes FCP1 31 33
  • 25 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.467 31
  • 45 (a)
 OneToOne
Species where no ortholog for CTDP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for CTDP1 Gene

ENSEMBL:
Gene Tree for CTDP1 (if available)
TreeFam:
Gene Tree for CTDP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CTDP1: view image

Paralogs for CTDP1 Gene

No data available for Paralogs for CTDP1 Gene

Variants for CTDP1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CTDP1 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
668525 Likely Benign: not provided 79,718,011(+) C/G SYNONYMOUS_VARIANT
681324 Benign: not provided 79,718,011(+) C/T SYNONYMOUS_VARIANT
681639 Benign: not provided 79,714,626(+) C/T MISSENSE_VARIANT
707968 Benign: not provided 79,714,711(+) A/G SYNONYMOUS_VARIANT
710137 Benign: not provided 79,680,241(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CTDP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CTDP1 Gene

Variant ID Type Subtype PubMed ID
dgv1661n106 CNV deletion 24896259
dgv212e215 CNV deletion 23714750
dgv6117n54 CNV loss 21841781
dgv6118n54 CNV loss 21841781
esv1003318 CNV deletion 20482838
esv1011198 CNV insertion 20482838
esv1046194 CNV insertion 17803354
esv1368125 CNV insertion 17803354
esv1394695 CNV deletion 17803354
esv1626049 CNV deletion 17803354
esv2134672 CNV deletion 18987734
esv2447548 CNV deletion 19546169
esv2531346 CNV insertion 19546169
esv2564978 CNV deletion 19546169
esv25884 CNV loss 19812545
esv2656662 CNV deletion 23128226
esv2671018 CNV deletion 23128226
esv2717679 CNV deletion 23290073
esv2717680 CNV deletion 23290073
esv2717681 CNV deletion 23290073
esv2717682 CNV deletion 23290073
esv2717683 CNV deletion 23290073
esv2717685 CNV deletion 23290073
esv2717686 CNV deletion 23290073
esv2717687 CNV deletion 23290073
esv2717688 CNV deletion 23290073
esv2717689 CNV deletion 23290073
esv2741776 CNV deletion 23290073
esv28962 CNV loss 19812545
esv2926 CNV loss 18987735
esv3107123 CNV deletion 24192839
esv3310462 CNV novel sequence insertion 20981092
esv3377806 CNV duplication 20981092
esv3397129 CNV duplication 20981092
esv3583194 CNV loss 25503493
esv3643312 CNV loss 21293372
esv3643313 CNV gain 21293372
esv3643314 CNV loss 21293372
esv3643315 CNV gain 21293372
esv3643316 CNV loss 21293372
esv8210 CNV loss 19470904
esv988016 CNV deletion 20482838
esv996423 CNV deletion 20482838
nsv1061450 CNV gain 25217958
nsv1064506 CNV gain 25217958
nsv1065902 CNV gain 25217958
nsv1066888 CNV gain 25217958
nsv1072284 CNV deletion 25765185
nsv1072825 CNV deletion 25765185
nsv1118795 CNV deletion 24896259
nsv1130380 CNV deletion 24896259
nsv1132883 CNV insertion 24896259
nsv1135064 CNV deletion 24896259
nsv1138641 CNV deletion 24896259
nsv1143890 CNV deletion 24896259
nsv1146834 CNV deletion 26484159
nsv2382 CNV deletion 18451855
nsv428359 CNV gain 18775914
nsv458316 CNV loss 19166990
nsv470437 CNV loss 18288195
nsv477644 CNV novel sequence insertion 20440878
nsv509709 CNV insertion 20534489
nsv519406 CNV gain 19592680
nsv525694 CNV loss 19592680
nsv577909 CNV loss 21841781
nsv828346 CNV gain 20364138
nsv953928 CNV deletion 24416366
nsv954102 CNV deletion 24416366

Variation tolerance for CTDP1 Gene

Residual Variation Intolerance Score: 33.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.07; 75.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTDP1 Gene

Human Gene Mutation Database (HGMD)
CTDP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTDP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTDP1 Gene

Disorders for CTDP1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for CTDP1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
congenital cataracts, facial dysmorphism, and neuropathy
  • ccfdn
charcot-marie-tooth disease/hereditary motor and sensory neuropathy
  • charcot-marie-tooth hereditary neuropathy
charcot-marie-tooth disease
  • peroneal muscular atrophy
neuropathy
  • peripheral neuropathy
esophageal tuberculosis
  • tuberculosis of esophagus
- elite association - COSMIC cancer census association via MalaCards
Search CTDP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CTDP1_HUMAN
  • 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). {ECO:0000269 PubMed:14517542}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CTDP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for CTDP1 Gene

Publications for CTDP1 Gene

  1. The C-terminal domain phosphatase and transcription elongation activities of FCP1 are regulated by phosphorylation. (PMID: 12591939) Friedl EM … Reinberg D (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 23
  2. Molecular mechanism of recruitment of TFIIF- associating RNA polymerase C-terminal domain phosphatase (FCP1) by transcription factor IIF. (PMID: 12591941) Kamada K … Burley SK (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 23
  3. The FCP1 phosphatase interacts with RNA polymerase II and with MEP50 a component of the methylosome complex involved in the assembly of snRNP. (PMID: 12560496) Licciardo P … Majello B (Nucleic acids research 2003) 3 4 23
  4. FCP1, the RAP74-interacting subunit of a human protein phosphatase that dephosphorylates the carboxyl-terminal domain of RNA polymerase IIO. (PMID: 9765293) Archambault J … Greenblatt J (The Journal of biological chemistry 1998) 2 3 4
  5. Fcp1-dependent dephosphorylation is required for M-phase-promoting factor inactivation at mitosis exit. (PMID: 22692537) Visconti R … Grieco D (Nature communications 2012) 3 4

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