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Aliases for CTDP1 Gene

Aliases for CTDP1 Gene

  • CTD Phosphatase Subunit 1 2 3 5
  • CTD (Carboxy-Terminal Domain, RNA Polymerase II, Polypeptide A) Phosphatase, Subunit 1 2 3
  • FCP1 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

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 Neuropathy. Among its related pathways are Formation of the HIV-1 Early Elongation Complex and Gene Expression. GO annotations related to this gene include phosphoprotein phosphatase activity and CTD phosphatase activity.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTDP1 Gene

Genomics for CTDP1 Gene

Regulatory Elements for CTDP1 Gene

Enhancers for CTDP1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CTDP1 on UCSC Golden Path with GeneCards custom track

Promoters for CTDP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CTDP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CTDP1 Gene

Chromosome:
18
Start:
79,679,801 bp from pter
End:
79,756,623 bp from pter
Size:
76,823 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 StructureGene Density

RefSeq DNA sequence for CTDP1 Gene

Proteins for CTDP1 Gene

  • 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

Proteomics data for CTDP1 Gene at MOPED

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 Lys 653
  • Modification sites at PhosphoSitePlus

Other Protein References for CTDP1 Gene

No data available for DME Specific Peptides for CTDP1 Gene

Domains & Families for CTDP1 Gene

Gene Families for CTDP1 Gene

Protein Domains for CTDP1 Gene

Suggested Antigen Peptide Sequences for CTDP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y5B0

UniProtKB/Swiss-Prot:

CTDP1_HUMAN :
  • Contains 1 BRCT domain.
Domain:
  • Contains 1 BRCT domain.
  • Contains 1 FCP1 homology domain.
genes like me logo Genes that share domains with CTDP1: view

Function for CTDP1 Gene

Molecular function for CTDP1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
[a protein]-serine/threonine phosphate + H(2)O = [a protein]-serine/threonine + phosphate.
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.

Enzyme Numbers (IUBMB) for CTDP1 Gene

Gene Ontology (GO) - Molecular Function for CTDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9765293
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

miRNA for CTDP1 Gene

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
Jensen Localization Image for CTDP1 Gene COMPARTMENTS Subcellular localization image for CTDP1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for CTDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IDA 22692537
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005819 spindle IDA 22692537
GO:0051233 spindle midzone 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

Gene Ontology (GO) - Biological Process for CTDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006366 transcription from RNA polymerase II promoter TAS --
GO:0050434 positive regulation of viral transcription TAS --
GO:0051301 cell division IEA --
GO:0061052 negative regulation of cell growth involved in cardiac muscle cell development IEA --
genes like me logo Genes that share ontologies with CTDP1: view

No data available for SIGNOR curated interactions for CTDP1 Gene

Drugs & Compounds for CTDP1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with CTDP1: view

Transcripts for CTDP1 Gene

Unigene Clusters for CTDP1 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
CTDP1

Expression for CTDP1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for CTDP1 Gene



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.
genes like me logo Genes that share expression patterns with CTDP1: view

Protein tissue co-expression partners for CTDP1 Gene

- Elite partner

Primer Products

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
cow
(Bos Taurus)
Mammalia CTDP1 35
  • 78.22 (n)
  • 75.35 (a)
dog
(Canis familiaris)
Mammalia CTDP1 35
  • 79.81 (n)
  • 78.99 (a)
CTDP1 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ctdp1 35
  • 78.66 (n)
  • 79.41 (a)
Ctdp1 16
Ctdp1 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CTDP1 35
  • 98.75 (n)
  • 98.6 (a)
CTDP1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ctdp1 35
  • 78.9 (n)
  • 78.69 (a)
oppossum
(Monodelphis domestica)
Mammalia CTDP1 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CTDP1 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves CTDP1 35
  • 66.47 (n)
  • 70.32 (a)
CTDP1 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CTDP1 36
  • 64 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ctdp1 35
  • 63.53 (n)
  • 62.97 (a)
ctdp1 36
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG12252 37
  • 35 (a)
Fcp1 36
  • 29 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F36F2.6 37
  • 39 (a)
fcp-1 36
  • 30 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FCP1 36
  • 25 (a)
OneToOne
FCP1 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.467 36
  • 45 (a)
OneToOne
Species with no ortholog for CTDP1:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for CTDP1 Gene

No data available for Paralogs for CTDP1 Gene

Variants for CTDP1 Gene

Sequence variations from dbSNP and Humsavar for CTDP1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs2279103 - 79,713,127(+) TCAGA(C/T)GAGAA reference, missense
rs34967023 - 79,717,863(+) CGCCT(C/T)GTTCC reference, missense
rs4799078 - 79,710,418(-) ATTTT(A/C/G/T)TAAAA reference, missense
rs557503 - 79,715,016(+) CGAGC(A/C/G)TGGCG reference, missense
rs70198 -- 79,695,690(-) AAAAC(A/G)CAGAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv428359 CNV Gain 18775914
nsv910000 CNV Loss 21882294
nsv525694 CNV Loss 19592680
nsv910009 CNV Loss 21882294
nsv910028 CNV Gain 21882294
nsv910030 CNV Loss 21882294
nsv519406 CNV Gain 19592680
nsv910032 CNV Gain 21882294
dgv3489n71 CNV Loss 21882294
nsv470437 CNV Loss 18288195
nsv910034 CNV Gain 21882294
nsv910035 CNV Gain+Loss 21882294
esv2531346 CNV Insertion 19546169
esv1011198 CNV Insertion 20482838
esv1046194 CNV Insertion 17803354
esv1368125 CNV Insertion 17803354
nsv509709 CNV Insertion 20534489
esv1626049 CNV Deletion 17803354
dgv3490n71 CNV Loss 21882294
nsv910039 CNV Loss 21882294
esv25884 CNV Loss 19812545
esv2717679 CNV Deletion 23290073
esv2656662 CNV Deletion 23128226
esv988016 CNV Deletion 20482838
esv2717680 CNV Deletion 23290073
esv2671018 CNV Deletion 23128226
nsv910040 CNV Loss 21882294
esv2717681 CNV Deletion 23290073
esv2741776 CNV Deletion 23290073
esv1003318 CNV Deletion 20482838
nsv910041 CNV Loss 21882294
nsv910042 CNV Loss 21882294
nsv828346 CNV Gain 20364138
esv2447548 CNV Deletion 19546169
esv2717682 CNV Deletion 23290073
esv2926 CNV Deletion 18987735
esv2134672 CNV Deletion 18987734
esv996423 CNV Deletion 20482838
esv2717683 CNV Deletion 23290073
esv8210 CNV Loss 19470904
esv2717685 CNV Deletion 23290073
esv2717686 CNV Deletion 23290073
esv2717687 CNV Deletion 23290073
esv2717688 CNV Deletion 23290073
esv2717689 CNV Deletion 23290073
nsv2382 CNV Loss 18451855
esv2564978 CNV Deletion 19546169
esv28962 CNV Loss 19812545
nsv458316 CNV Loss 19166990
esv1394695 CNV Deletion 17803354

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)

Relevant External Links for CTDP1 Gene

Human Gene Mutation Database (HGMD)
CTDP1

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

Disorders for CTDP1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
congenital cataracts, facial dysmorphism, and neuropathy
  • ccfdn
neuropathy
hiv-1
  • aids, slow progression to
- 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.

Relevant External Links for CTDP1

Genetic Association Database (GAD)
CTDP1
Human Genome Epidemiology (HuGE) Navigator
CTDP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CTDP1
genes like me logo Genes that share disorders with CTDP1: view

No data available for Genatlas for CTDP1 Gene

Publications for CTDP1 Gene

  1. 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. (J. Biol. Chem. 1998) 2 3 4 67
  2. NMR structure of a complex formed by the carboxyl-terminal domain of human RAP74 and a phosphorylated peptide from the central domain of the FCP1 phosphatase. (PMID: 19215094) Yang A. … Legault P. (Biochemistry 2009) 3 23
  3. NMR assignment of the intrinsically disordered C-terminal region of Homo sapiens FCP1 in the unbound state. (PMID: 19888685) Showalter S.A. (Biomol NMR Assign 2009) 3 23
  4. Identification of proteins interacting with the RNAPII FCP1 phosphatase: FCP1 forms a complex with arginine methyltransferase PRMT5 and it is a substrate for PRMT5-mediated methylation. (PMID: 15670829) Amente S. … Majello B. (FEBS Lett. 2005) 3 23
  5. 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 Res. 2003) 3 23

Products for CTDP1 Gene

Sources for CTDP1 Gene

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