S100A7 (Psoriasin): A Calcium-Binding S100 Protein in Skin Immunity and Cancer
Explore the genomic context, expression patterns, disease associations, and functional roles of S100A7, a key player in psoriasis and epithelial malignancies.
Gene Information Card
| Symbol | S100A7 |
|---|---|
| Full Name | S100 calcium binding protein A7 |
| Gene Type | protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 6278 ncbi.nlm.nih.gov/gene/6278 |
| Ensembl ID | ENSG00000143546 |
| UniProt ID | P31151 |
| OMIM ID | 600620 |
| HGNC ID | 10495 |
| Aliases | PSOR1; S100A7c; psoriasin |
Description
S100A7, commonly known as psoriasin, is a member of the S100 family of calcium-binding proteins. It is located in the epidermal differentiation complex on chromosome 1q21.3. S100A7 is highly expressed in psoriatic skin and has antimicrobial activity, particularly against Escherichia coli. It is also implicated in inflammation and cancer, with elevated expression in certain breast cancers and other epithelial tumors. Its function is calcium-dependent and involves interactions with various intracellular and extracellular targets, influencing cell differentiation, proliferation, and immune responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Psoriasis | Overexpression in psoriatic epidermis; acts as an antimicrobial peptide and chemoattractant for neutrophils, contributing to inflammation. | Overexpressed in psoriatic lesions (NCBI Gene, OMIM). |
| Breast Cancer | Elevated expression in high-grade ductal carcinoma in situ and invasive breast cancer; may promote tumor progression via RAGE signaling. | Expression associated with poor prognosis (UniProt, COSMIC). |
| Skin Infections | Antimicrobial activity against E. coli; may protect skin from infection, but dysregulation can alter skin microbiome. | Functional studies (UniProt). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | Not available | High expression in epidermis, especially in psoriatic lesions. |
| Breast | Not available | Expression in normal breast is low, but upregulated in certain breast cancers. |
| Lung | Not available | Expression in lung tissue is low. |
| Esophagus | Not available | Expression in esophageal epithelium is moderate. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | Not available | Constitutive expression; upregulated by calcium and UVB. |
| MCF-7 (breast cancer) | Not available | Expression is low; can be induced by estrogen. |
| MDA-MB-231 (breast cancer) | Not available | High expression in this triple-negative cell line. |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Potential loss of start codon; effect unknown. |
| c.215C>T (p.Ala72Val) | Missense | Rare | May affect protein stability; clinical significance not established. |
| c.280G>A (p.Glu94Lys) | Missense | Rare | Alters calcium-binding site; possible functional impact. |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported; gene is generally overexpressed in disease.
Gain of Function (GOF)
Overexpression in cancer and psoriasis suggests a gain-of-function role in promoting inflammation and tumor progression.
Dominant Negative (DN)
No evidence for dominant-negative mutations.
View complete mutation data:
Gene Ontology (GO)
| • calcium ion binding | • protein homodimerization activity |
| • RAGE receptor binding | • chemokine activity |
| • antimicrobial humoral immune response mediated by antimicrobial peptide | • innate immune response |
| • epidermis development | • cell proliferation |
| • inflammatory response |
Pathways
• S100 proteins signaling
• RAGE signaling
• Innate immune response
• Epidermal differentiation
Protein Summary
S100A7 is a 11.4 kDa protein consisting of 101 amino acids. It contains two EF-hand calcium-binding domains. Upon calcium binding, it undergoes conformational changes that allow interaction with target proteins, including RAGE (receptor for advanced glycation end products) and other intracellular proteins. It is secreted and acts as an antimicrobial peptide, particularly effective against E. coli. In the cytoplasm, it may regulate cell differentiation and proliferation. In cancer, it promotes tumor cell survival, migration, and invasion through autocrine and paracrine mechanisms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| S100A7A Knockout HEK293 Cell Line | EDJ-KQ15153 | Human | 338324 | Details Get a Quote |
| S100A7 Knockout HEK293 Cell Line | EDJ-KQ50601 | Human | 6278 | Details Get a Quote |
| S100A7 Knockout HeLa Cell Line | EDJ-KQ54377 | Human | 6278 | Details Get a Quote |
| S100A7A Knockout HeLa Cell Line | EDJ-KQ59606 | Human | 338324 | Details Get a Quote |
| S100A7 Knockout A-549 Cell Line | EDJ-KQ62871 | Human | 6278 | Details Get a Quote |
| S100A7A Knockout A-549 Cell Line | EDJ-KQ68071 | Human | 338324 | Details Get a Quote |
| S100A7 Knockout HCT 116 Cell Line | EDJ-KQ71336 | Human | 6278 | Details Get a Quote |
| S100A7A Knockout HCT 116 Cell Line | EDJ-KQ76448 | Human | 338324 | Details Get a Quote |