InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CDT1

Summary

InnateDB Protein

IDBP-46675.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CDT1

Protein Name

chromatin licensing and DNA replication factor 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000301019

InnateDB Gene

IDBG-46673 (CDT1)

Protein Structure

UniProt Annotation

Function

Cooperates with CDC6 to promote the loading of the mini- chromosome maintenance complex onto chromatin to form the pre- replication complex necessary to initiate DNA replication. Binds DNA in a sequence-, strand-, and conformation-independent manner. Potential oncogene. {ECO:0000250UniProtKB:Q8R4E9, ECO:0000269PubMed:11125146, ECO:0000269PubMed:14672932, ECO:0000269PubMed:14993212, ECO:0000269PubMed:21856198}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:11125146}.

Disease Associations

Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804]: A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. {ECO:0000269PubMed:21358631, ECO:0000269PubMed:21358632}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 75 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	75 [view]
Protein-Protein	75 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0005515	protein binding

Biological Process

GO:0000076	DNA replication checkpoint
GO:0000082	G1/S transition of mitotic cell cycle
GO:0000083	regulation of transcription involved in G1/S transition of mitotic cell cycle
GO:0000278	mitotic cell cycle
GO:0006260	DNA replication
GO:0030174	regulation of DNA-dependent DNA replication initiation
GO:0033262	regulation of nuclear cell cycle DNA replication