AlphaFold predicted structure
CTDP1 · Q9Y5B0
Mean pLDDT
63.7/ 100
Low
961 residues
Confidence breakdown
- Very high(≥ 90)31%
- Confident(70–90)16%
- Low(50–70)7%
- Very low(< 50)47%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
CTDP1
Chr 18q23CTD phosphatase 1
- Aliases:
- FCP1
- MANE:
- ENST00000613122.5
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalHereditary neuropathy
BIALLELIC, autosomal or pseudoautosomalHereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalBilateral congenital or childhood onset cataracts
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomalVici Syndrome and other autophagy disorders
BIALLELIC, autosomal or pseudoautosomalArthrogryposis
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Disease associations (Open Targets)
Congenital cataracts - facial dysmorphism - neuropathy
0.71congenital cataracts-facial dysmorphism-neuropathy syndrome
0.71HIV infectious disease
0.59neurodegenerative disease
0.44autoimmune disorder of central nervous system
0.37smoking initiation
0.34Charcot-Marie-Tooth disease
0.33ovarian dysfunction
0.28stroke disorder
0.28cervical carcinoma
0.24
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
RNA polymerase II subunit A C-terminal domain phosphatase
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
Diseases associated with CTDP1
Curated MONDO disease pages that list CTDP1 among their top associated genes.