Reviewed,
UniProtKB/Swiss-Prot Q9Y5B0 (CTDP1_HUMAN)
Last modified
February 9, 2010.
Version 90.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: RNA polymerase II subunit A C-terminal domain phosphatase EC=3.1.3.16 Alternative name(s): TFIIF-associating CTD phosphatase | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 961 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| 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. |
| Catalytic activity | A phosphoprotein + H2O = a protein + phosphate. |
| Subunit structure | Homodimer. Interacts with GTF2F1. Interacts with WDR77, SNRPB and SNRNP70. Ref.1 Ref.4 |
| Subcellular location | |
| Tissue specificity | Ubiquitously expressed. Isoform 3 is expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and placenta. Ref.1 |
| Post-translational modification | 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. Ref.5 Ref.6 Ref.7 Ref.8 Ref.9 |
| Involvement in disease | 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). Ref.13 |
| Sequence similarities | Contains 1 BRCT domain. Contains 1 FCP1 homology domain. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Cataract |
| Molecular function | Hydrolase Protein phosphatase |
| PTM | Acetylation Phosphoprotein |
| Technical term | 3D-structure Complete proteome |
| Gene Ontology (GO) | |
| Biological process | protein amino acid dephosphorylation Ref.1 Traceable author statement. Source: ProtInc |
| Cellular component | nucleoplasm Inferred from Experiment. Source: Reactome |
| Molecular function | CTD phosphatase activity Inferred from direct assay. Source: UniProtKB DNA-directed RNA polymerase activity Ref.1Traceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9Y5B0-1) Also known as: Fcp1; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q9Y5B0-2) Also known as: Fcp1b; The sequence of this isoform differs from the canonical sequence as follows: 807-961: AVPPPQPQMF...ALEAELNDLM → WTTSLEKAAT...AGGPEATRGS | ||||||
| Isoform 3 (identifier: Q9Y5B0-3) Also known as: Fcp1a; The sequence of this isoform differs from the canonical sequence as follows: 1-119: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | |||||||
Molecule processing | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 961 | 961 | RNA polymerase II subunit A C-terminal domain phosphatase | PRO_0000212564 | ||||||||
Regions | ||||||||||||
| Domain | 178 – 344 | 167 | FCP1 homology | |||||||||
| Domain | 629 – 728 | 100 | BRCT | |||||||||
| Compositional bias | 455 – 478 | 24 | Ser-rich | |||||||||
| Compositional bias | 577 – 582 | 6 | Poly-Glu | |||||||||
Amino acid modifications | ||||||||||||
| Modified residue | 674 | 1 | Phosphoserine Ref.8 Ref.9 | |||||||||
| Modified residue | 740 | 1 | Phosphoserine Ref.6 Ref.8 Ref.9 | |||||||||
| Modified residue | 780 | 1 | N6-acetyllysine Ref.11 | |||||||||
| Modified residue | 869 | 1 | Phosphoserine Ref.7 | |||||||||
| Modified residue | 872 | 1 | Phosphoserine Ref.7 | |||||||||
Natural variations | ||||||||||||
| Alternative sequence | 1 – 119 | 119 | Missing in isoform 3. | VSP_009864 | ||||||||
| Alternative sequence | 807 – 961 | 155 | AVPPP…LNDLM → WTTSLEKAATTATARRGGLR SRRRSPSPGSQGPAGSGRSG HLRPARGARQGAGGPEATRG S in isoform 2. | VSP_009865 | ||||||||
| Natural variant | 282 | 1 | S → F: dbSNP rs4799078. | VAR_060440 | ||||||||
| Natural variant | 340 | 1 | T → M: dbSNP rs2279103. | VAR_018264 | ||||||||
| Natural variant | 519 | 1 | P → H: dbSNP rs557503. | VAR_060441 | ||||||||
| Natural variant | 755 | 1 | L → S: dbSNP rs34967023. | VAR_032763 | ||||||||
Experimental info | ||||||||||||
| Sequence conflict | 157 | 1 | P → A in AAC64549. Ref.1 | |||||||||
| Sequence conflict | 281 | 1 | F → I in AAH52576. Ref.3 | |||||||||
| Sequence conflict | 305 | 1 | E → K in AAD42088. Ref.2 | |||||||||
| Sequence conflict | 390 | 1 | A → P in AAC64549. Ref.1 | |||||||||
| Sequence conflict | 478 | 1 | S → T in AAC64549. Ref.1 | |||||||||
| Sequence conflict | 486 – 487 | 2 | KP → NA in AAC64549. Ref.1 | |||||||||
| Sequence conflict | 504 – 505 | 2 | EP → DA in AAC64549. Ref.1 | |||||||||
| Sequence conflict | 513 | 1 | L → V in AAC64549. Ref.1 | |||||||||
| Sequence conflict | 656 – 657 | 2 | EH → DD in AAC64549. Ref.1 | |||||||||
| Sequence conflict | 896 – 900 | 5 | GADAR → ERTLG in AAC64549. Ref.1 | |||||||||
| Sequence conflict | 896 – 900 | 5 | GADAR → ERTLG in AAH52576. Ref.3 | |||||||||
Secondary structure | ||||||||||||
Helix Strand Turn | ||||||||||||
| Helix | 945 – 956 | 12 | ||||||||||
| Turn | 957 – 959 | 3 | ||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "FCP1, the RAP74-interacting subunit of a human protein phosphatase that dephosphorylates the carboxyl-terminal domain of RNA polymerase IIO." Archambault J., Pan G., Dahmus G.K., Cartier M., Marshall N., Zhang S., Dahmus M.E., Greenblatt J. J. Biol. Chem. 273:27593-27601(1998) [PubMed: 9765293] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3), TISSUE SPECIFICITY, INTERACTION WITH GTF2F1. Tissue: Placenta. |
| [2] | "A protein phosphatase functions to recycle RNA polymerase II." Cho H., Kim T.-K., Mancebo H., Lane W.S., Flores O., Reinberg D. Genes Dev. 13:1540-1552(1999) [PubMed: 10385623] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Cervix carcinoma. |
| [3] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Colon, Lymph and Ovary. |
| [4] | "The FCP1 phosphatase interacts with RNA polymerase II and with MEP50 a component of the methylosome complex involved in the assembly of snRNP." Licciardo P., Amente S., Ruggiero L., Monti M., Pucci P., Lania L., Majello B. Nucleic Acids Res. 31:999-1005(2003) [PubMed: 12560496] [Abstract] Cited for: INTERACTION WITH WDR77; SNRPB AND SNRNP70. |
| [5] | "The C-terminal domain phosphatase and transcription elongation activities of FCP1 are regulated by phosphorylation." Friedl E.M., Lane W.S., Erdjument-Bromage H., Tempst P., Reinberg D. Proc. Natl. Acad. Sci. U.S.A. 100:2328-2333(2003) [PubMed: 12591939] [Abstract] Cited for: PHOSPHORYLATION. |
| [6] | "Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-740, MASS SPECTROMETRY. Tissue: Epithelium. |
| [7] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-869 AND SER-872, MASS SPECTROMETRY. Tissue: Epithelium. |
| [8] | "A probability-based approach for high-throughput protein phosphorylation analysis and site localization." Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P. Nat. Biotechnol. 24:1285-1292(2006) [PubMed: 16964243] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-674 AND SER-740, MASS SPECTROMETRY. Tissue: Epithelium. |
| [9] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-674 AND SER-740, MASS SPECTROMETRY. |
| [10] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [11] | "Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-780, MASS SPECTROMETRY. |
| [12] | "Molecular mechanism of recruitment of TFIIF-associating RNA polymerase C-terminal domain phosphatase (FCP1) by transcription factor IIF." Kamada K., Roeder R.G., Burley S.K. Proc. Natl. Acad. Sci. U.S.A. 100:2296-2299(2003) [PubMed: 12591941] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 944-961 IN COMPLEX WITH GTF2F1. |
| [13] | "Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome." Varon R., Gooding R., Steglich C., Marns L., Tang H., Angelicheva D., Yong K.K., Ambrugger P., Reinhold A., Morar B., Baas F., Kwa M., Tournev I., Guerguelcheva V., Kremensky I., Lochmueller H., Muellner-Eidenboeck A., Merlini L. Kalaydjieva L.Nat. Genet. 35:185-189(2003) [PubMed: 14517542] [Abstract] Cited for: INVOLVEMENT IN CCFDN. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | AF081287 mRNA. Translation: AAC64549.1. AF154115 mRNA. Translation: AAD42088.1. BC015010 mRNA. Translation: AAH15010.1. BC052576 mRNA. Translation: AAH52576.1. BC063447 mRNA. Translation: AAH63447.1. | ||||||||||||||||||||||||
| IPI | IPI00410256. IPI00410257. IPI00410258. | ||||||||||||||||||||||||
| RefSeq | NP_004706.3. NP_430255.2. | ||||||||||||||||||||||||
| UniGene | Hs.465490 | ||||||||||||||||||||||||
3D structure databases | |||||||||||||||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||||||||||||||
| SMR | Q9Y5B0. Positions 14-111, 177-321, 618-732. | ||||||||||||||||||||||||
| DisProt | DP00177. | ||||||||||||||||||||||||
| ModBase | Search... | ||||||||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||||||||
| STRING | Q9Y5B0. | ||||||||||||||||||||||||
PTM databases | |||||||||||||||||||||||||
| PhosphoSite | Q9Y5B0. | ||||||||||||||||||||||||
Proteomic databases | |||||||||||||||||||||||||
| PRIDE | Q9Y5B0. | ||||||||||||||||||||||||
Genome annotation databases | |||||||||||||||||||||||||
| Ensembl | ENST00000299543; ENSP00000299543; ENSG00000060069; Homo sapiens. [Genome view] | ||||||||||||||||||||||||
| GeneID | 9150. | ||||||||||||||||||||||||
| KEGG | hsa:9150. | ||||||||||||||||||||||||
| UCSC | uc002lnh.1. human. uc002lni.1. human. | ||||||||||||||||||||||||
Organism-specific databases | |||||||||||||||||||||||||
| CTD | 9150. | ||||||||||||||||||||||||
| GeneCards | GC18P075540. | ||||||||||||||||||||||||
| H-InvDB | HIX0027357. | ||||||||||||||||||||||||
| HGNC | HGNC:2498. CTDP1. | ||||||||||||||||||||||||
| MIM | 604168. phenotype. 604927. gene. | ||||||||||||||||||||||||
| Orphanet | 48431. Congenital cataracts - facial dysmorphism - neuropathy. | ||||||||||||||||||||||||
| PharmGKB | PA27001. | ||||||||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||||||||
| eggNOG | prNOG13967. | ||||||||||||||||||||||||
| HOGENOM | HBG403000. | ||||||||||||||||||||||||
| HOVERGEN | Q9Y5B0. | ||||||||||||||||||||||||
| InParanoid | Q9Y5B0. | ||||||||||||||||||||||||
Enzyme and pathway databases | |||||||||||||||||||||||||
| BRENDA | 3.1.3.16. 247. | ||||||||||||||||||||||||
| Reactome | REACT_1788. Transcription. REACT_1892. Elongation arrest and recovery. REACT_6143. Pausing and recovery of Tat-mediated HIV-1 elongation. REACT_6185. HIV Infection. REACT_6244. Pausing and recovery of HIV-1 elongation. REACT_6259. HIV-1 elongation arrest and recovery. REACT_6344. Tat-mediated HIV-1 elongation arrest and recovery. REACT_71. Gene Expression. REACT_769. Pausing and recovery of elongation. | ||||||||||||||||||||||||
Gene expression databases | |||||||||||||||||||||||||
| ArrayExpress | Q9Y5B0. | ||||||||||||||||||||||||
| Bgee | Q9Y5B0. | ||||||||||||||||||||||||
| CleanEx | HS_CTDP1. | ||||||||||||||||||||||||
| Genevestigator | Q9Y5B0. | ||||||||||||||||||||||||
| GermOnline | ENSG00000060069. Homo sapiens. | ||||||||||||||||||||||||
Family and domain databases | |||||||||||||||||||||||||
| InterPro | IPR001357. BRCT. IPR015388. FCP1_C. IPR011947. FCP1_euk. IPR004274. NIF. [Graphical view] | ||||||||||||||||||||||||
| Pfam | PF09309. FCP1_C. 1 hit. PF03031. NIF. 1 hit. [Graphical view] | ||||||||||||||||||||||||
| SMART | SM00292. BRCT. 1 hit. SM00577. CPDc. 1 hit. [Graphical view] | ||||||||||||||||||||||||
| TIGRFAMs | TIGR02250. FCP1_euk. 1 hit. | ||||||||||||||||||||||||
| PROSITE | PS50172. BRCT. 1 hit. PS50969. FCP1. 1 hit. [Graphical view] | ||||||||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||||||||
Other Resources | |||||||||||||||||||||||||
| NextBio | 34327. | ||||||||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||||||||
Entry information
| Entry name | CTDP1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9Y5B0 Secondary accession number(s): Q7Z644, Q96BZ1, Q9Y6F5 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 18 Human chromosome 18: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with


