CDC7 Cell Division Cycle 7

A key serine/threonine kinase regulating DNA replication initiation and cell cycle progression

Gene Information Card

Symbol CDC7
Full Name Cell division cycle 7
Gene Type Protein coding
Chromosomal Location 1p22.1
NCBI Gene ID 8317 ncbi.nlm.nih.gov/gene/8317
Ensembl ID ENSG00000097046
UniProt ID O00311
OMIM ID 603311
HGNC ID 1745
Aliases CDC7L1, HsCDC7, huCDC7, CDC7-related kinase

Description

CDC7 encodes a serine/threonine kinase that is essential for the initiation of DNA replication. It forms a complex with DBF4 (ASK) and phosphorylates the MCM2-7 complex, promoting origin firing and cell cycle progression. CDC7 activity is tightly regulated during the cell cycle and is critical for S-phase entry. Dysregulation of CDC7 is implicated in various cancers and genomic instability.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Colorectal cancer Overexpression of CDC7 promotes uncontrolled cell proliferation COSMIC, NCBI
Breast cancer CDC7 amplification and overexpression correlate with poor prognosis COSMIC, ClinVar
Lung cancer CDC7 upregulation associated with tumor progression and metastasis COSMIC
Ovarian cancer CDC7 overexpression linked to chemoresistance COSMIC
Hepatocellular carcinoma CDC7 overexpression drives hepatocarcinogenesis NCBI, COSMIC

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 18.5 High
Bone marrow 12.3 Medium
Lymph node 10.1 Medium
Spleen 9.8 Medium
Brain 4.2 Low
Heart 3.1 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 15.2 Cervical cancer cell line
HEK293 12.8 Embryonic kidney
MCF7 11.5 Breast cancer cell line
A549 10.9 Lung cancer cell line
HCT116 14.1 Colorectal cancer cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) Missense <0.1% Loss of start codon, likely loss of function
c.154C>T (p.Arg52Trp) Missense <0.1% Unknown significance
c.1066G>A (p.Glu356Lys) Missense <0.1% Unknown significance
c.1234C>T (p.Arg412Cys) Missense <0.1% Unknown significance
Mutation functional classification

Loss of Function (LOF)

Rare missense variants (e.g., p.Met1?) may abolish protein expression or kinase activity, impairing DNA replication.

Gain of Function (GOF)

Not well documented; overexpression is more common in cancer.

Dominant Negative (DN)

No dominant-negative mutations reported in CDC7.

Pathways

Cell cycle (KEGG hsa04110)
DNA replication (KEGG hsa03030)
Activation of the pre-replicative complex (Reactome R-HSA-68962)

Protein Summary

CDC7 is a 574-amino acid serine/threonine kinase with a catalytic domain in the N-terminal region. It interacts with DBF4/ASK to form an active complex that phosphorylates MCM proteins, licensing origins of replication. The protein is localized to the nucleus and its expression peaks in S phase. CDC7 activity is essential for cell proliferation and is frequently upregulated in cancers.

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Displaying Records 1 To 15 Of 40 Records
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