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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CTDP1
CTD phosphatase subunit 1
Chromosome 18 Β· 18q23
NCBI Gene: 9150Ensembl: ENSG00000060069.19HGNC: HGNC:2498UniProt: Q9Y5B0
78PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
TFIIF-class transcription factor complex bindingnucleoplasmcentrosomespindleCongenital cataracts - facial dysmorphism - neuropathycongenital cataracts-facial dysmorphism-neuropathy syndromeHIV infectionneurodegenerative disease
✦AI Summary

CTDP1 is a phosphatase that serves critical roles in transcriptional regulation and cell cycle control. Mechanistically, CTDP1 processively dephosphorylates serine-2 and serine-5 residues in the heptad repeats of RNA polymerase II's C-terminal domain (CTD), promoting transcriptional elongation and reinitiation 1. The protein also regulates mitotic exit by dephosphorylating substrates including USP44, CDC20, and WEE1, which are essential for M-phase-promoting factor inactivation. Beyond transcription, CTDP1 participates in DNA damage responses through BRCA1 C-terminal domain-specific interactions with Fanconi anemia pathway proteins, particularly FANCI, enhancing homologous recombination repair and interstrand crosslink resolution 2. Biallelic Ctdp1 deletion causes embryonic lethality before day 7.5, while heterozygous mice are haplosufficient 3. Disease relevance is exemplified by Congenital Cataracts, Facial Dysmorphism, and Neuropathy (CCFDN) syndrome, an autosomal recessive disorder caused by a deep intronic CTDP1 founder variant predominantly affecting Vlax Roma populations 4. CCFDN presents with early-onset peripheral neuropathy, congenital cataracts, microcorneae, and developmental delays 5. Clinically, CTDP1 expression correlates with breast cancer survival and proliferation, positioning it as a potential therapeutic target 2. Emerging therapeutic approaches for CCFDN include antisense oligonucleotides and genome editing strategies 4.

Sources cited
1
CTDP1 dephosphorylates Pol II CTD and interacts with RPB7 to stabilize Pol II and facilitate reinitiation
PMID: 40038320
2
CTDP1 participates in DNA damage response through interactions with FANCI and promotes breast cancer cell survival
PMID: 31240132
3
Biallelic Ctdp1 deletion causes embryonic lethality and impairs cell cycle progression; heterozygous mice are viable
PMID: 33408128
4
CCFDN is caused by deep intronic CTDP1 founder variant in Roma populations; discusses emerging therapeutic strategies
PMID: 41515914
5
CCFDN syndrome presents with congenital cataracts, neuropathy, and developmental abnormalities; all patients carry homozygous CTDP1 mutation
PMID: 16939648
Disease Associationsβ“˜21
Congenital cataracts - facial dysmorphism - neuropathyOpen Targets
0.72Strong
congenital cataracts-facial dysmorphism-neuropathy syndromeOpen Targets
0.72Strong
HIV infectionOpen Targets
0.59Moderate
neurodegenerative diseaseOpen Targets
0.44Moderate
smoking initiationOpen Targets
0.38Weak
neuroinflammatory disorderOpen Targets
0.37Weak
Charcot-Marie-Tooth diseaseOpen Targets
0.33Weak
ovarian dysfunctionOpen Targets
0.29Weak
hair colorOpen Targets
0.26Weak
diabetes mellitusOpen Targets
0.26Weak
cervical carcinomaOpen Targets
0.25Weak
tricuspid valve diseaseOpen Targets
0.25Weak
systemic lupus erythematosusOpen Targets
0.22Weak
cataractOpen Targets
0.21Weak
trauma complicationOpen Targets
0.20Weak
atrial fibrillationOpen Targets
0.17Weak
benign urinary system neoplasmOpen Targets
0.14Weak
osteoarthritis, hipOpen Targets
0.14Weak
medical procedureOpen Targets
0.09Suggestive
total hip arthroplastyOpen Targets
0.08Suggestive
Congenital cataracts, facial dysmorphism, and neuropathyUniProt
Pathogenic Variants1
NM_004715.5(CTDP1):c.863+389C>TPathogenic
Congenital cataracts-facial dysmorphism-neuropathy syndrome|Charcot-Marie-Tooth disease|not provided
β˜…β˜…β˜†β˜†2025
View on ClinVar β†—
Related Genes
POLR2BProtein interaction100%POLR2KProtein interaction100%POLR2EProtein interaction100%POLR2DProtein interaction100%POLR2HProtein interaction100%SUPT5HProtein interaction100%
Tissue Expression6 tissues
Lung
100%
Liver
82%
Bone Marrow
73%
Ovary
42%
Brain
40%
Heart
31%
Gene Interaction Network
Click a node to explore
CTDP1POLR2BPOLR2KPOLR2EPOLR2DPOLR2HSUPT5H
PROTEIN STRUCTURE
Preparing viewer…
PDB1J2X Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.65LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.50 [0.39–0.65]
RankingsWhere CTDP1 stands among ~20K protein-coding genes
  • #6,060of 20,598
    Most Researched78
  • #4,970of 5,498
    Most Pathogenic Variants1
  • #4,714of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedCTDP1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
Congenital cataracts-facial dysmorphism-neuropathy.
PMID: 16939648
Orphanet J Rare Dis Β· 2006
0.90
3
CTDP1 and RPB7 stabilize Pol II and permit reinitiation.
PMID: 40038320
Nat Commun Β· 2025
0.80
4
The
PMID: 41515914
Int J Mol Sci Β· 2025
0.70
5
CTDP1 regulates breast cancer survival and DNA repair through BRCT-specific interactions with FANCI.
PMID: 31240132
Cell Death Discov Β· 2019
0.60