DIXDC1
DIX Domain Containing 1: A Key Regulator of Wnt Signaling and Neuronal Development
Gene Information Card
| Symbol | DIXDC1 |
|---|---|
| Full Name | DIX domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q23.1 |
| NCBI Gene ID | 85458 ncbi.nlm.nih.gov/gene/85458 |
| Ensembl ID | ENSG00000150768 |
| UniProt ID | Q8N7X1 |
| OMIM ID | 610493 |
| HGNC ID | 23669 |
| Aliases | DIXDC1, Ccd1, Dixin, DIX domain containing 1 |
Description
DIXDC1 (DIX domain containing 1) is a protein-coding gene that plays a critical role in the Wnt signaling pathway, particularly in the non-canonical planar cell polarity (PCP) pathway. It is involved in neuronal development, cell migration, and cytoskeletal organization. DIXDC1 is expressed in various tissues and has been implicated in several cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | DIXDC1 overexpression activates Wnt/β-catenin signaling, promoting tumor growth and metastasis | PMID: 23431128 |
| Breast cancer | DIXDC1 upregulation correlates with poor prognosis and enhances cell proliferation via Wnt signaling | PMID: 25605248 |
| Neurodevelopmental disorders | DIXDC1 mutations disrupt neuronal migration and axon guidance, contributing to intellectual disability | PMID: 27545674 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 6.7 | Low |
| Liver | 4.2 | Low |
| Kidney | 9.1 | Low |
| Testis | 15.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney cells |
| SH-SY5Y | 14.5 | Neuroblastoma cells |
| MCF7 | 8.9 | Breast cancer cells |
| HCT116 | 11.3 | Colorectal carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | <0.1% | Loss of function in Wnt signaling |
| c.1456G>A (p.Glu486Lys) | Missense | <0.1% | Altered protein stability |
| c.1789_1791del (p.Lys597del) | In-frame deletion | <0.1% | Impaired DIX domain function |
Mutation functional classification
Loss of Function (LOF)
Mutations in the DIX domain reduce Wnt signaling activity, leading to developmental defects.
Gain of Function (GOF)
Overexpression of wild-type DIXDC1 enhances Wnt/β-catenin signaling in cancer cells.
Dominant Negative (DN)
Truncated DIXDC1 variants can interfere with normal protein function in Wnt pathway.
View complete mutation data：
Gene Ontology (GO)
| • Wnt signaling pathway | • cell migration |
| • neuron projection development | • cytoskeleton organization |
| • protein binding |
Pathways
• Wnt signaling pathway (non-canonical PCP)
• Planar cell polarity pathway
Protein Summary
DIXDC1 is a 789-amino acid protein containing a DIX domain that mediates interactions with Dishevelled and other Wnt pathway components. It localizes to the cytoplasm and cell membrane, regulating cytoskeletal dynamics and cell polarity. The protein is highly expressed in the brain and testis, with moderate expression in other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DIXDC1 Knockout HEK293 Cell Line | EDJ-KQ9620 | Human | 85458 | Details Get a Quote |
| DIXDC1 Knockout A-549 Cell Line | EDJ-KQ37699 | Human | 85458 | Details Get a Quote |
| DIXDC1 Knockout HCT 116 Cell Line | EDJ-KQ37701 | Human | 85458 | Details Get a Quote |
| DIXDC1 Knockout HeLa Cell Line | EDJ-KQ37702 | Human | 85458 | Details Get a Quote |
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