SAPCD1 (Suppressor APC Domain Containing 1)
A gene encoding a protein involved in cell cycle regulation and potential tumor suppression.
Gene Information Card
| Symbol | SAPCD1 |
|---|---|
| Full Name | Suppressor APC Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 100506334 ncbi.nlm.nih.gov/gene/100506334 |
| Ensembl ID | ENSG00000267280 |
| UniProt ID | A0A1B0GTV6 |
| OMIM ID | 618758 |
| HGNC ID | HGNC:44139 |
| Aliases | C19orf57, FLJ45831 |
Description
SAPCD1 (Suppressor APC Domain Containing 1) is a protein-coding gene located on chromosome 19q13.2. The encoded protein contains a domain similar to the Adenomatous Polyposis Coli (APC) protein, suggesting a role in cell cycle regulation and Wnt signaling. SAPCD1 is expressed in various tissues and has been implicated in cancer biology, with potential tumor suppressor functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered expression may affect Wnt/β-catenin signaling; potential tumor suppressor role | NCBI Gene, COSMIC |
| Breast Cancer | Differential expression observed in tumor vs. normal tissue | COSMIC |
| Lung Cancer | Mutations and copy number alterations reported | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Colon | 5.4 | Low |
| Breast | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Embryonic kidney |
| HeLa | 10.1 | Cervical cancer |
| A549 | 7.8 | Lung cancer |
| MCF7 | 6.2 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347G>A (p.Arg116His) | Missense | <0.1% | Unknown significance |
| c.502C>T (p.Arg168Trp) | Missense | <0.1% | Unknown significance |
| c.631_632insA | Frameshift | <0.1% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.631_632insA) are predicted to cause premature truncation and loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SAPCD1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • cell cycle |
| • Wnt signaling pathway | • cytoplasm |
| • nucleus |
Pathways
• Wnt signaling pathway
• Cell cycle
Protein Summary
The SAPCD1 protein is a 347-amino acid polypeptide containing an APC-like domain. It is localized in the cytoplasm and nucleus, and is involved in cell cycle regulation and Wnt signaling. Its exact molecular function remains under investigation, but it may act as a tumor suppressor by modulating β-catenin degradation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SAPCD1 Knockout HEK293 Cell Line | EDJ-KQ10921 | Human | 401251 | Details Get a Quote |
| SAPCD1 Knockout A-549 Cell Line | EDJ-KQ39979 | Human | 401251 | Details Get a Quote |
| SAPCD1 Knockout HCT 116 Cell Line | EDJ-KQ39980 | Human | 401251 | Details Get a Quote |
| SAPCD1 Knockout HeLa Cell Line | EDJ-KQ39981 | Human | 401251 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
