Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
81620
Gene name Gene Name - the full gene name approved by the HGNC.
Chromatin licensing and DNA replication factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDT1
Synonyms (NCBI Gene) Gene synonyms aliases
DUP, RIS2
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q24.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605525 24576 ENSG00000167513
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Meier-Gorlin Syndrome meier-gorlin syndrome 4 rs387906917, rs147914553, rs779871947, rs387906918, rs200652608, rs587780305 N/A
meier-gorlin syndrome Meier-Gorlin syndrome rs387906917 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Adenine Phosphoribosyltransferase Deficiency adenine phosphoribosyltransferase deficiency N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37790630
Aneuploidy Associate 22479651
Carcinogenesis Associate 22479651
Carcinoma Hepatocellular Associate 36443564, 40255404
Carcinoma Pancreatic Ductal Associate 38423594
Carcinoma Renal Cell Associate 34872567
Cardiomyopathies Associate 32196466
Cardiovascular Diseases Associate 21418584
Colorectal Neoplasms Inhibit 25634203
Ear Diseases Associate 23516378