WSCD1
WSC Domain-Containing Protein 1: A Transmembrane Protein with Potential Roles in Cell Adhesion and Signaling
Gene Information Card
| Symbol | WSCD1 |
|---|---|
| Full Name | WSC domain-containing protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 23302 ncbi.nlm.nih.gov/gene/23302 |
| Ensembl ID | ENSG00000108576 |
| UniProt ID | Q6P3W7 |
| OMIM ID | 617660 |
| HGNC ID | 29163 |
| Aliases | FLJ22662, MGC138290 |
Description
WSCD1 (WSC domain-containing protein 1) is a protein-coding gene located on chromosome 17p13.1. The encoded protein contains a WSC domain, which is typically involved in carbohydrate binding and cell wall integrity sensing in fungi, but in humans may mediate cell adhesion or signaling. WSCD1 is expressed in various tissues and has been implicated in cancer and developmental processes. The gene is conserved across species and its precise biological functions are under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may affect cell adhesion and signaling pathways; specific mechanism not fully elucidated. | COSMIC database reports somatic mutations in various cancers; expression changes noted in tumor samples. |
| Breast cancer | Potential role in tumor progression; expression levels correlate with clinical outcomes in some studies. | NCBI Gene and COSMIC entries; limited direct evidence. |
| Lung cancer | Mutations and expression changes observed in lung adenocarcinoma samples. | COSMIC mutation data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 5.2 | Low |
| Brain | 3.8 | Low |
| Breast | 6.1 | Low |
| Colon | 4.5 | Low |
| Kidney | 7.3 | Medium |
| Liver | 2.1 | Low |
| Lung | 8.9 | Medium |
| Ovary | 5.6 | Low |
| Pancreas | 4.0 | Low |
| Prostate | 6.8 | Medium |
| Skin | 3.3 | Low |
| Testis | 12.4 | Medium |
| Thyroid | 7.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.2 | Embryonic kidney cells; moderate expression |
| HeLa | 6.5 | Cervical cancer cells; low to moderate |
| A549 | 8.1 | Lung cancer cells; moderate expression |
| MCF7 | 7.8 | Breast cancer cells; moderate expression |
| K562 | 4.3 | Leukemia cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | missense | 0.02% (COSMIC) | Unknown; predicted benign by SIFT |
| c.567C>T (p.Pro189Leu) | missense | 0.01% (COSMIC) | Unknown; predicted possibly damaging by PolyPhen |
| c.890_891insA (p.Thr297fs) | frameshift insertion | <0.01% (COSMIC) | Likely loss of function |
| c.1023T>G (p.Tyr341*) | nonsense | <0.01% (COSMIC) | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Thr297fs, p.Tyr341*) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No evidence for gain-of-function mutations in WSCD1.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) | • carbohydrate binding (GO:0030246) |
| • cell adhesion (GO:0007155) |
Pathways
• Not assigned to any specific pathway in major databases (KEGG
• Reactome).
Protein Summary
The WSCD1 protein is a transmembrane protein containing a WSC domain, which is involved in carbohydrate binding and may mediate cell-cell or cell-matrix interactions. It is localized to the plasma membrane and is expressed in multiple tissues, with highest levels in testis, lung, and kidney. The protein's exact function remains unclear, but it may play roles in cell adhesion and signaling. Mutations in WSCD1 are rare but have been reported in various cancers, though their functional impact is not well characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WSCD1 Knockout HEK293 Cell Line | EDJ-KQ7949 | Human | 23302 | Details Get a Quote |
| WSCD1 Knockout A-549 Cell Line | EDJ-KQ33617 | Human | 23302 | Details Get a Quote |
| WSCD1 Knockout HeLa Cell Line | EDJ-KQ55714 | Human | 23302 | Details Get a Quote |
| WSCD1 Knockout HCT 116 Cell Line | EDJ-KQ72658 | Human | 23302 | Details Get a Quote |
