Gene Gene information from NCBI Gene database.
Entrez ID 81620
Gene name Chromatin licensing and DNA replication factor 1
Gene symbol CDT1
Synonyms (NCBI Gene)
DUPRIS2
Chromosome 16
Chromosome location 16q24.3
Summary The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating r
SNPs SNP information provided by dbSNP.
7
SNP ID Visualize variation Clinical significance Consequence
rs3218727 C>T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs144843732 A>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs147914553 C>A,G,T Pathogenic Coding sequence variant, stop gained, synonymous variant
rs200652608 G>A,C Pathogenic Missense variant, coding sequence variant
rs387906917 G>A Likely-pathogenic, pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
306
miRTarBase ID miRNA Experiments Reference
MIRT016534 hsa-miR-193b-3p Microarray 20304954
MIRT050529 hsa-miR-20a-5p CLASH 23622248
MIRT045201 hsa-miR-186-5p CLASH 23622248
MIRT635630 hsa-miR-1228-3p HITS-CLIP 19536157
MIRT718835 hsa-miR-660-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0000076 Process DNA replication checkpoint signaling IBA
GO:0000076 Process DNA replication checkpoint signaling IDA 14672932
GO:0000076 Process DNA replication checkpoint signaling IEA
GO:0000278 Process Mitotic cell cycle IBA
GO:0000775 Component Chromosome, centromeric region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605525 24576 ENSG00000167513
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H211
Protein name DNA replication factor Cdt1 (Double parked homolog) (DUP)
Protein function Required for both DNA replication and mitosis (PubMed:11125146, PubMed:14993212, PubMed:21856198, PubMed:22581055, PubMed:26842564). DNA replication licensing factor, required for pre-replication complex assembly. Cooperates with CDC6 and the or
PDB 2LE8 , 2WVR , 6QCG , 8RWV , 8S0E , 8S0F
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08839 CDT1 186 349 DNA replication factor CDT1 like Domain
PF16679 CDT1_C 421 516 DNA replication factor Cdt1 C-terminal domain Domain
Sequence
MEQRRVTDFFARRRPGPPRIAPPKLACRTPSPARPALRAPASATSGSRKRARPPAAPGRD
QARPPARRRLRLSVDEVSSPSTPEAPDIPACPSPGQKIKKSTPAAGQPPHLTSAQDQDTI
SELASCLQRARELGARVRALKASAQDAGESCTPEAEGRPEEPCGEKAPAYQRFHALAQPG
LPGLVLPYKYQVLAEMFRSMDTIVGMLHNRSETPTFAKVQRGVQDMMRRRFEECNVGQIK
TVYPASYRFRQERSVPTFKDGTRRSDYQLTIEPLLEQEADGAAPQLTASRLLQRRQIFSQ
KLVEHVKEHHKAFLASLSPAMVVPEDQLTRWHPRFNVDEVPDIEPAALP
QPPATEKLTTA
QEVLARARNLISPRMEKALSQLALRSAAPSSPGSPRPALPATPPATPPAASPSALKGVSQ
DLLERIRAKEAQKQLAQMTRCPEQEQRLQRLERLPELARVLRSVFVSERKPALSMEVACA
RMVGSCCTIMSPGEMEKHLLLLSELLPDWLSLHRIR
TDTYVKLDKAADLAHITARLAHQT
RAEEGL
Sequence length 546
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cell cycle   CDT1 association with the CDC6:ORC:origin complex
Assembly of the pre-replicative complex
Orc1 removal from chromatin
Activation of the pre-replicative complex
G1/S-Specific Transcription
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Meier-Gorlin syndrome Likely pathogenic; Pathogenic rs387906917 RCV000825514
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meier-Gorlin syndrome 4 Pathogenic; Likely pathogenic rs1567502140, rs2142945856, rs776483689, rs587780305, rs1409329871, rs2508193346, rs387906917, rs147914553, rs779871947, rs387906918, rs200652608 RCV001527361
RCV001527362
RCV001780745
RCV000116636
RCV003225900
View all (6 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Adenine phosphoribosyltransferase deficiency Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CDT1-related disorder Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; Likely benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aneuploidy Aneuploidy Pubtator 22479651 Associate
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 18367492
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28428557
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 22479651 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36443564, 40255404 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 38423594 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 34872567 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy Pubtator 32196466 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular disease Pubtator 21418584 Associate
★☆☆☆☆
Found in Text Mining only
Chronic myeloproliferative disorder Myeloproliferative disorder GENOMICS_ENGLAND_DG 21358632
★☆☆☆☆
Found in Text Mining only