CALML5: Calmodulin-Like 5
A calcium-binding protein involved in keratinocyte differentiation and epidermal development.
Gene Information Card
| Symbol | CALML5 |
|---|---|
| Full Name | calmodulin-like 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 10p15.1 |
| NCBI Gene ID | 51806 ncbi.nlm.nih.gov/gene/51806 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | Q9NZT1 |
| OMIM ID | 608910 |
| HGNC ID | 24179 |
| Aliases | CLP, calmodulin-like protein |
Description
CALML5 encodes calmodulin-like 5, a calcium-binding protein belonging to the calmodulin family. It is specifically expressed in the epidermis and plays a critical role in keratinocyte differentiation and cornification. The protein binds calcium ions and is involved in the formation of the cornified cell envelope, contributing to skin barrier function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Skin squamous cell carcinoma | Altered CALML5 expression may disrupt keratinocyte differentiation, contributing to tumorigenesis. | COSMIC; PMID: 23535731 |
| Psoriasis | Dysregulation of CALML5 in psoriatic epidermis suggests involvement in abnormal keratinocyte proliferation. | NCBI Gene; PMID: 15689436 |
| Atopic dermatitis | Reduced CALML5 expression may impair skin barrier function. | UniProt; PMID: 17222317 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 127.5 | High |
| Esophagus | 10.2 | Medium |
| Cervix | 5.1 | Low |
| Vagina | 3.8 | Low |
| Other tissues | <1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 85.3 | High expression; used as model for keratinocyte differentiation |
| A431 (epidermoid carcinoma) | 42.1 | Moderate expression |
| HEK293 | 0.5 | Very low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Potential loss of start codon; effect unknown |
| c.148C>T (p.Arg50Cys) | missense | <0.01% | May alter calcium binding; rare in population |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Keratinocyte differentiation (Reactome: R-HSA-6809371)
• Formation of the cornified envelope (Reactome: R-HSA-6809374)
Protein Summary
Calmodulin-like 5 (CALML5) is a 146-amino acid calcium-binding protein predominantly expressed in the suprabasal layers of the epidermis. It contains four EF-hand motifs typical of calmodulin family members. CALML5 is essential for terminal differentiation of keratinocytes and assembly of the cornified cell envelope. Its expression is upregulated during keratinocyte differentiation and downregulated in certain skin cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CALML5 Knockout HEK293 Cell Line | EDJ-KQ1225 | Human | 51806 | Details Get a Quote |
| CALML5 Knockout HeLa Cell Line | EDJ-KQ56362 | Human | 51806 | Details Get a Quote |
| CALML5 Knockout A-549 Cell Line | EDJ-KQ64852 | Human | 51806 | Details Get a Quote |
| CALML5 Knockout HCT 116 Cell Line | EDJ-KQ73296 | Human | 51806 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records