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.

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 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
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