DCAF13
DDB1 and CUL4 Associated Factor 13
Gene Information Card
| Symbol | DCAF13 |
|---|---|
| Full Name | DDB1 and CUL4 Associated Factor 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q22.3 |
| NCBI Gene ID | 25879 ncbi.nlm.nih.gov/gene/25879 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q9NV06 |
| OMIM ID | 617933 |
| HGNC ID | 24641 |
| Aliases | FLJ10385, WDR40A, MGC131831 |
Description
DCAF13 (DDB1 and CUL4 Associated Factor 13) encodes a WD40-repeat-containing protein that functions as a substrate receptor for the CUL4-DDB1 E3 ubiquitin ligase complex. It is involved in ubiquitination and degradation of target proteins, playing roles in cell cycle progression, DNA replication, and chromatin remodeling. DCAF13 is also implicated in cancer and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of DCAF13 promotes cell proliferation and tumor growth via ubiquitination of target proteins | PMID: 31239362 |
| Hepatocellular carcinoma | DCAF13 upregulation correlates with poor prognosis and enhanced cell cycle progression | PMID: 32015553 |
| Lung adenocarcinoma | DCAF13 expression is elevated and associated with oncogenic signaling | PMID: 33020298 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lymph node | 15.2 | Medium |
| Bone marrow | 12.8 | Medium |
| Brain | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.7 | Embryonic kidney |
| HeLa | 22.3 | Cervical carcinoma |
| MCF7 | 25.1 | Breast cancer |
| HepG2 | 20.4 | Hepatocellular carcinoma |
| A549 | 19.8 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1010C>T (p.Thr337Met) | Missense | 0.001% (gnomAD) | Unknown functional impact |
| c.1456G>A (p.Val486Ile) | Missense | 0.002% (gnomAD) | Likely benign |
| c.1723C>T (p.Arg575Trp) | Missense | 0.0005% (gnomAD) | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in DCAF13.
Gain of Function (GOF)
Overexpression in cancers suggests potential gain-of-function role in tumorigenesis.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• CUL4-DDB1 E3 ubiquitin ligase complex
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
Protein Summary
DCAF13 is a 546-amino-acid protein containing seven WD40 repeats that form a beta-propeller structure. It acts as a substrate receptor for the CUL4-DDB1 ubiquitin ligase complex, targeting proteins for ubiquitination and degradation. DCAF13 is predominantly nuclear and regulates cell cycle progression, particularly the G1/S transition. Its overexpression in multiple cancers suggests an oncogenic role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCAF13 Knockout HEK293 Cell Line | EDJ-KQ8278 | Human | 25879 | Details Get a Quote |
| DCAF13 Knockout HeLa Cell Line | EDJ-KQ32913 | Human | 25879 | Details Get a Quote |
| DCAF13 Knockout A-549 Cell Line | EDJ-KQ34228 | Human | 25879 | Details Get a Quote |
| DCAF13 Knockout HCT 116 Cell Line | EDJ-KQ34229 | Human | 25879 | Details Get a Quote |
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