DCAF17
DDB1 and CUL4 Associated Factor 17
Gene Information Card
| Symbol | DCAF17 |
|---|---|
| Full Name | DDB1 and CUL4 Associated Factor 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 80006 ncbi.nlm.nih.gov/gene/80006 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q5H9S7 |
| OMIM ID | 612515 |
| HGNC ID | 25784 |
| Aliases | C2orf37, DKFZp686D10100 |
Description
DCAF17 encodes a substrate receptor for the DDB1-CUL4 ubiquitin ligase complex, involved in ubiquitination and proteasomal degradation of target proteins. It is essential for normal development and function of multiple organ systems, particularly the nervous system, endocrine glands, and hair follicles. Mutations in DCAF17 cause Woodhouse-Sakati syndrome, an autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Woodhouse-Sakati syndrome | Loss-of-function mutations in DCAF17 impair ubiquitin ligase activity, disrupting protein degradation pathways critical for neuroendocrine and ectodermal development. | Multiple reports in OMIM and ClinVar; homozygous or compound heterozygous mutations identified in affected families. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Low |
| Adrenal gland | 7.1 | Low |
| Skin | 6.4 | Low |
| Pancreas | 5.2 | Low |
| Thyroid | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 8.9 | Cervical carcinoma cells |
| K562 | 6.3 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.436delC (p.Leu146Cysfs*21) | Frameshift deletion | Rare | Loss of function; truncates protein, abolishing DDB1 binding |
| c.529C>T (p.Arg177*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.1030C>T (p.Arg344*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.1192C>T (p.Arg398*) | Nonsense | Rare | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
All reported pathogenic mutations in DCAF17 are loss-of-function (nonsense, frameshift, splice-site), leading to truncated or absent protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • protein ubiquitination |
| • DDB1-CUL4 ubiquitin ligase complex | • nucleus |
| • cytoplasm |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• DDB1-CUL4 ubiquitin ligase complex pathway
Protein Summary
DCAF17 is a 520-amino acid protein that functions as a substrate receptor for the DDB1-CUL4 ubiquitin ligase complex. It contains a WD40 repeat domain that mediates protein-protein interactions. The protein is localized to the nucleus and cytoplasm and is involved in ubiquitination of specific substrates, though the full repertoire of targets remains to be elucidated. Loss of DCAF17 function leads to accumulation of substrates and cellular dysfunction, particularly in neuroendocrine tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCAF17 Knockout HEK293 Cell Line | EDJ-KQ9441 | Human | 80067 | Details Get a Quote |
| DCAF17 Knockout A-549 Cell Line | EDJ-KQ36123 | Human | 80067 | Details Get a Quote |
| DCAF17 Knockout HCT 116 Cell Line | EDJ-KQ36124 | Human | 80067 | Details Get a Quote |
| DCAF17 Knockout HeLa Cell Line | EDJ-KQ36125 | Human | 80067 | Details Get a Quote |
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