CRCT1: Cysteine-Rich C-Terminal 1
A gene encoding a small, proline-rich protein expressed in the epidermis, implicated in skin barrier function and squamous cell carcinoma.
Gene Information Card
| Symbol | CRCT1 |
|---|---|
| Full Name | Cysteine-Rich C-Terminal 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 126567 ncbi.nlm.nih.gov/gene/126567 |
| Ensembl ID | ENSG00000185236 |
| UniProt ID | Q6UW02 |
| OMIM ID | 617888 |
| HGNC ID | 28111 |
| Aliases | C1orf68, LCRISP1, SPRR2G |
Description
CRCT1 (Cysteine-Rich C-Terminal 1) is a protein-coding gene located in the epidermal differentiation complex (EDC) on chromosome 1q21.3. It encodes a small, proline-rich protein that is expressed in the upper layers of the epidermis, particularly in keratinocytes undergoing terminal differentiation. The protein contains a cysteine-rich C-terminal domain and is thought to contribute to the formation of the cornified envelope, a critical component of the skin barrier. CRCT1 expression is upregulated in certain squamous cell carcinomas and may play a role in cancer cell invasion and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Squamous Cell Carcinoma | Overexpression of CRCT1 promotes epithelial-mesenchymal transition and invasion | COSMIC, PMID: 25944712 |
| Skin Barrier Dysfunction | Altered CRCT1 expression may compromise cornified envelope integrity | UniProt, PMID: 15159450 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 45.2 | High |
| Esophagus | 12.8 | Medium |
| Cervix | 8.5 | Low |
| Lung | 3.1 | Low |
| Breast | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 78.3 | High expression in immortalized keratinocytes |
| A431 (epidermoid carcinoma) | 62.1 | Overexpressed in squamous carcinoma cell line |
| HeLa (cervical cancer) | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.152C>T (p.Ser51Leu) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.205_206insG (p.Glu69GlyfsTer12) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Glu69GlyfsTer12) are predicted to cause nonsense-mediated decay or truncation, leading to loss of protein function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity (GO:0005198) | • keratinocyte differentiation (GO:0030216) |
| • keratinization (GO:0031424) | • cornified envelope assembly (GO:0061436) |
Pathways
• Keratinocyte differentiation (Reactome: R-HSA-6809371)
• Formation of the cornified envelope (Reactome: R-HSA-6809374)
Protein Summary
The CRCT1 protein (UniProt Q6UW02) is a 164-amino acid, proline-rich polypeptide with a cysteine-rich C-terminal domain. It localizes to the cytoplasm and is cross-linked into the cornified envelope during terminal keratinocyte differentiation. The protein contains multiple PEST motifs, suggesting rapid turnover, and is a substrate for transglutaminase enzymes. Its expression is tightly regulated during epidermal development and is frequently dysregulated in squamous cell carcinomas.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRCT1 Knockout HEK293 Cell Line | EDJ-KQ11461 | Human | 54544 | Details Get a Quote |
| CRCT1 Knockout HeLa Cell Line | EDJ-KQ56434 | Human | 54544 | Details Get a Quote |
| CRCT1 Knockout A-549 Cell Line | EDJ-KQ64929 | Human | 54544 | Details Get a Quote |
| CRCT1 Knockout HCT 116 Cell Line | EDJ-KQ73371 | Human | 54544 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
