Homo sapiens Protein: CTDP1 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-5552.7 | ||||||||||||||||||
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 | ENSP00000075430 | ||||||||||||||||||
InnateDB Gene | IDBG-5548 (CTDP1) | ||||||||||||||||||
Protein Structure |
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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.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR001357
BRCT domain IPR004274 NLI interacting factor IPR011053 Single hybrid motif IPR011947 FCP1-like phosphatase, phosphatase domain IPR015388 FCP1-like phosphatase, C-terminal IPR023214 HAD-like domain |
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PFAM |
PF00533
PF12738 PF03031 PF09309 PF00702 PF08282 PF13419 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00292
SM00577 |
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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_430255 | ||||||||||||||||||
HUGO | HGNC:2498 | ||||||||||||||||||
OMIM | 604927 | ||||||||||||||||||
CCDS | CCDS12018 | ||||||||||||||||||
HPRD | 05377 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC021594 AC068473 AF081287 AF154115 BC015010 BC052576 BC063447 CH471117 | ||||||||||||||||||
GenPept | AAC64549 AAD42088 AAH15010 AAH52576 AAH63447 EAW66631 | ||||||||||||||||||