APCDD1L Gene - APC Down-Regulated 1 Like
Comprehensive genomic and functional analysis of APCDD1L, a Wnt signaling modulator.
Gene Information Card
| Symbol | APCDD1L |
|---|---|
| Full Name | APC Down-Regulated 1 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 20q11.23 |
| NCBI Gene ID | 164832 ncbi.nlm.nih.gov/gene/164832 |
| Ensembl ID | ENSG00000125870 |
| UniProt ID | Q8N7X0 |
| OMIM ID | 617858 |
| HGNC ID | 26885 |
| Aliases | APCDD1L, bA135P7.1, MGC131831 |
Description
APCDD1L (APC Down-Regulated 1 Like) is a protein-coding gene located on chromosome 20q11.23. It encodes a membrane protein that modulates Wnt signaling by inhibiting the Wnt pathway. The gene is expressed in various tissues and is implicated in cell proliferation and differentiation. Alterations in APCDD1L expression have been associated with certain cancers and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Downregulation of APCDD1L may lead to aberrant Wnt pathway activation, promoting tumorigenesis. | PubMed: 23431126 |
| Hepatocellular Carcinoma | Reduced APCDD1L expression correlates with poor prognosis and increased Wnt signaling. | PubMed: 27397536 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.4 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| HepG2 | 5.2 | Hepatocellular carcinoma cells |
| A549 | 6.9 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Unknown functional effect |
| c.487G>A (p.Gly163Ser) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
| • Wnt-protein binding (GO:0017147) | • negative regulation of Wnt signaling pathway (GO:0030178) |
| • positive regulation of transcription by RNA polymerase II (GO:0045944) |
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• Negative regulation of Wnt signaling (Reactome: R-HSA-4641262)
Protein Summary
APCDD1L is a single-pass transmembrane protein localized to the plasma membrane. It functions as a negative regulator of the Wnt signaling pathway by binding to Wnt proteins and preventing their interaction with receptors. The protein is involved in cell growth and differentiation, and its dysregulation is linked to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APCDD1L Knockout HEK293 Cell Line | EDJ-KQ12395 | Human | 164284 | Details Get a Quote |
| APCDD1L Knockout HeLa Cell Line | EDJ-KQ58873 | Human | 164284 | Details Get a Quote |
| APCDD1L Knockout A-549 Cell Line | EDJ-KQ67364 | Human | 164284 | Details Get a Quote |
| APCDD1L Knockout HCT 116 Cell Line | EDJ-KQ75757 | Human | 164284 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
