DCDC1 Gene: Doublecortin Domain Containing 1
A gene encoding a doublecortin domain-containing protein involved in neuronal migration and ciliary function.
Gene Information Card
| Symbol | DCDC1 |
|---|---|
| Full Name | Doublecortin Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p14.1 |
| NCBI Gene ID | 341208 ncbi.nlm.nih.gov/gene/341208 |
| Ensembl ID | ENSG00000182621 |
| UniProt ID | Q8N7Z6 |
| OMIM ID | 617003 |
| HGNC ID | 18145 |
| Aliases | DCDC1A, DCDC1B, FLJ32001 |
Description
DCDC1 (Doublecortin Domain Containing 1) is a protein-coding gene located on chromosome 11p14.1. It encodes a protein containing a doublecortin domain, which is involved in microtubule binding and neuronal migration. DCDC1 is expressed in various tissues, including brain and testis, and may play a role in ciliary function and cell division. Mutations in DCDC1 have been implicated in certain ciliopathies and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephronophthisis | Defects in ciliary function due to DCDC1 mutations | PMID: 23559409 |
| Retinitis pigmentosa | Disruption of photoreceptor cilia | PMID: 23559409 |
| Hepatocellular carcinoma | Altered expression and potential tumor suppressor role | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Kidney | 6.1 | Low |
| Liver | 4.2 | Low |
| Lung | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.2 | Embryonic kidney cells |
| SH-SY5Y | 5.9 | Neuroblastoma cells |
| HepG2 | 4.5 | Hepatocellular carcinoma cells |
| A549 | 3.1 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.832C>T (p.Arg278*) | Nonsense | Rare | Loss of function |
| c.1246G>A (p.Gly416Arg) | Missense | Rare | Unknown |
| c.1573_1574del (p.Leu525fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity (GO:0003777) | • microtubule (GO:0005874) |
| • axon guidance (GO:0007411) | • cell projection organization (GO:0030030) |
| • cilium assembly (GO:0060271) |
Pathways
• Microtubule cytoskeleton organization
• Cilium assembly and function
• Neuronal migration
Protein Summary
The DCDC1 protein contains a doublecortin domain that binds microtubules and is essential for neuronal migration and ciliary function. It is localized to the cytoplasm and cilia, and its dysfunction is associated with ciliopathies such as nephronophthisis and retinitis pigmentosa. The protein may also act as a tumor suppressor in hepatocellular carcinoma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCDC1 Knockout HEK293 Cell Line | EDJ-KQ13104 | Human | 341019 | Details Get a Quote |
| DCDC1 Knockout A-549 Cell Line | EDJ-KQ42404 | Human | 341019 | Details Get a Quote |
| DCDC1 Knockout HeLa Cell Line | EDJ-KQ78042 | Human | 341019 | Details Get a Quote |
| DCDC1 Knockout HCT 116 Cell Line | EDJ-KQ78043 | Human | 341019 | Details Get a Quote |
