DCAF12L1: DDB1 and CUL4 Associated Factor 12-Like 1
A substrate receptor for the CUL4-RING E3 ubiquitin ligase complex with potential roles in protein degradation and cellular signaling.
Gene Information Card
| Symbol | DCAF12L1 |
|---|---|
| Full Name | DDB1 and CUL4 Associated Factor 12-Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 139170 ncbi.nlm.nih.gov/gene/139170 |
| Ensembl ID | ENSG00000163083 |
| UniProt ID | Q5VUJ9 |
| OMIM ID | 614826 |
| HGNC ID | 26673 |
| Aliases | FLJ32771, MGC16384 |
Description
DCAF12L1 encodes a protein that belongs to the DCAF (DDB1- and CUL4-associated factor) family. These proteins serve as substrate receptors for the CUL4-RING E3 ubiquitin ligase complex, targeting specific proteins for ubiquitination and subsequent proteasomal degradation. DCAF12L1 is thought to play a role in regulating cellular processes such as cell cycle progression, DNA repair, and signal transduction. The gene is located on chromosome 2q31.1 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in OMIM or ClinVar | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Brain | 5.1 | Low |
| Lung | 4.3 | Low |
| Liver | 3.8 | Low |
| Kidney | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.0 | Moderate expression |
| HeLa | 4.5 | Low expression |
| K562 | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
Pathways
• CUL4-RING E3 ubiquitin ligase complex pathway
Protein Summary
The DCAF12L1 protein (UniProt Q5VUJ9) is a 546-amino acid protein containing a WD40 domain, which is characteristic of DCAF family members. It is predicted to interact with DDB1 and CUL4, forming part of the CUL4-RING E3 ubiquitin ligase complex. This complex mediates the ubiquitination of target proteins, leading to their degradation by the proteasome. The specific substrates of DCAF12L1 remain largely unknown, but it may be involved in regulating cell proliferation and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCAF12L1 Knockout HEK293 Cell Line | EDJ-KQ9523 | Human | 139170 | Details Get a Quote |
| DCAF12L1 Knockout HeLa Cell Line | EDJ-KQ58407 | Human | 139170 | Details Get a Quote |
| DCAF12L1 Knockout A-549 Cell Line | EDJ-KQ66896 | Human | 139170 | Details Get a Quote |
| DCAF12L1 Knockout HCT 116 Cell Line | EDJ-KQ75298 | Human | 139170 | Details Get a Quote |
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