Homo sapiens Protein: CTDP1
Summary
InnateDB Protein IDBP-5550.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CTDP1
Protein Name CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
Synonyms CCFDN; FCP1;
Species Homo sapiens
Ensembl Protein ENSP00000299543
InnateDB Gene IDBG-5548 (CTDP1)
Protein Structure
UniProt Annotation
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. {ECO:0000269PubMed:22692537}.
Subcellular Localization Nucleus {ECO:0000269PubMed:22692537}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269PubMed:22692537}. Cytoplasm, cytoskeleton, spindle {ECO:0000269PubMed:22692537}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269PubMed:22692537}. Midbody {ECO:0000269PubMed:22692537}. 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.
Disease Associations 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:0000269PubMed:14517542}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Ubiquitously expressed. {ECO:0000269PubMed:9765293}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 59 experimentally validated interaction(s) in this database.
Experimentally validated
Total 59 [view]
Protein-Protein 58 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003899 DNA-directed RNA polymerase activity
GO:0004721 phosphoprotein phosphatase activity
GO:0005515 protein binding
GO:0008420 CTD phosphatase activity
Biological Process
GO:0006366 transcription from RNA polymerase II promoter
GO:0006368 transcription elongation from RNA polymerase II promoter
GO:0006470 protein dephosphorylation
GO:0010458 exit from mitosis
GO:0010467 gene expression
GO:0016032 viral process
GO:0050434 positive regulation of viral transcription
Cellular Component
GO:0000922 spindle pole
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005819 spindle
GO:0015629 actin cytoskeleton
GO:0030496 midbody
GO:0051233 spindle midzone
Protein Structure and Domains
PDB ID
InterPro IPR001357 BRCT domain
IPR004274 NLI interacting factor
IPR011947 FCP1-like phosphatase, phosphatase domain
IPR015388 FCP1-like phosphatase, C-terminal
IPR023214 HAD-like domain
PFAM PF00533
PF12738
PF03031
PF09309
PF00702
PF08282
PF13419
PRINTS
PIRSF
SMART SM00292
SM00577
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y5B0
PhosphoSite PhosphoSite-Q9Y5B0
TrEMBL K7EPW4
UniProt Splice Variant
Entrez Gene 9150
UniGene Hs.734021
RefSeq NP_001189433
HUGO HGNC:2498
OMIM 604927
CCDS CCDS74239
HPRD 05377
IMGT
EMBL AC021594 AC068473 AF081287 AF154115 BC015010 BC052576 BC063447 CH471117
GenPept AAC64549 AAD42088 AAH15010 AAH52576 AAH63447 EAW66631