DBF4
DBF4 Zinc Finger
Gene Information Card
| Symbol | DBF4 |
|---|---|
| Full Name | DBF4 zinc finger |
| Gene Type | protein-coding |
| Chromosomal Location | 7q21.3 |
| NCBI Gene ID | 10926 ncbi.nlm.nih.gov/gene/10926 |
| Ensembl ID | ENSG00000106511 |
| UniProt ID | Q9UBU7 |
| OMIM ID | 602100 |
| HGNC ID | 2696 |
| Aliases | ASK, ZDBF1B, DBF4A |
Description
DBF4 (DBF4 zinc finger) encodes a regulatory subunit of the CDC7 kinase complex, essential for initiation of DNA replication. The protein interacts with CDC7 to form the DBF4-dependent kinase (DDK), which phosphorylates the MCM complex to activate replication origins. DBF4 expression is cell cycle-regulated, peaking at G1/S phase. It is involved in cell proliferation and DNA damage response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression of DBF4 promotes cell cycle progression and genomic instability | COSMIC; PMID: 23535732 |
| Breast cancer | DBF4 amplification and overexpression correlate with poor prognosis | COSMIC; PMID: 25691885 |
| Colorectal cancer | DBF4 upregulation associated with tumor proliferation | COSMIC; PMID: 27323851 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.3 | Low |
| Lymph node | 7.1 | Low |
| Spleen | 6.9 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| K562 | 10.8 | Leukemia cell line |
| A549 | 9.4 | Lung cancer cell line |
| MCF7 | 12.1 | Breast cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T | Missense | 0.1% | p.Arg349Trp; uncertain significance |
| c.1234G>A | Missense | 0.05% | p.Gly412Arg; uncertain significance |
| c.789_790insA | Frameshift | 0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to truncate the protein, impairing CDC7 binding and kinase activity.
Gain of Function (GOF)
Not well documented; amplification and overexpression in cancers suggest potential gain-of-function via increased DDK activity.
Dominant Negative (DN)
Not reported for DBF4.
View complete mutation data:
Gene Ontology (GO)
| • nucleus (GO:0005634) | • protein binding (GO:0005515) |
| • protein kinase activity (GO:0004672) | • DNA replication (GO:0006260) |
| • cell cycle (GO:0007049) | • DNA replication initiation (GO:0006270) |
Pathways
• Cell Cycle (Reactome: R-HSA-1640170)
• DNA Replication (Reactome: R-HSA-69306)
• CDC7-DBF4 complex activation (Reactome: R-HSA-68962)
Protein Summary
DBF4 is a 674-amino acid zinc finger protein that serves as the regulatory subunit of the CDC7 kinase. It contains a conserved N-terminal domain required for CDC7 binding and activation. The DBF4-CDC7 complex (DDK) phosphorylates MCM2-7 proteins at replication origins, licensing DNA replication. DBF4 levels fluctuate during the cell cycle, peaking at G1/S. It also participates in the intra-S phase checkpoint and DNA repair.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DBF4B Knockout HEK293 Cell Line | EDJ-KQ9470 | Human | 80174 | Details Get a Quote |
| DBF4B Knockout HCT 116 Cell Line | EDJ-KQ34932 | Human | 80174 | Details Get a Quote |
| DBF4B Knockout A-549 Cell Line | EDJ-KQ36177 | Human | 80174 | Details Get a Quote |
| DBF4B Knockout HeLa Cell Line | EDJ-KQ36178 | Human | 80174 | Details Get a Quote |
| DBF4 Knockout HEK293 Cell Line | EDJ-KQ51022 | Human | 10926 | Details Get a Quote |
| DBF4 Knockout HeLa Cell Line | EDJ-KQ55530 | Human | 10926 | Details Get a Quote |
| DBF4 Knockout A-549 Cell Line | EDJ-KQ64020 | Human | 10926 | Details Get a Quote |
| DBF4 Knockout HCT 116 Cell Line | EDJ-KQ72471 | Human | 10926 | Details Get a Quote |
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