KRT77: Keratin 77 - A Type II Cytoskeletal Keratin

Comprehensive genomic, proteomic, and clinical overview of KRT77, a structural intermediate filament protein involved in epithelial integrity and skin disorders.

Gene Information Card

Symbol KRT77
Full Name Keratin 77
Gene Type Protein coding
Chromosomal Location 12q13.13
NCBI Gene ID 374454 ncbi.nlm.nih.gov/gene/374454
Ensembl ID ENSG00000189182
UniProt ID Q7Z794
OMIM ID 611159
HGNC ID 28935
Aliases KRT1B, KRT77, cytokeratin 77, CK-77

Description

KRT77 (keratin 77) is a protein-coding gene that belongs to the type II (basic) keratin family. Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. KRT77 is expressed in various epithelial tissues, including skin, oral mucosa, and esophagus. It forms heteropolymers with type I keratins to assemble into keratin filaments. Mutations in KRT77 have been associated with skin fragility disorders and certain cancers.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Epidermolysis bullosa simplex (EBS) Disruption of keratin filament assembly due to KRT77 mutations leads to epidermal fragility and blistering. ClinVar; OMIM #611159
Oral leukoplakia Altered KRT77 expression may contribute to epithelial dysplasia in oral mucosa. NCBI Gene; PubMed studies
Esophageal squamous cell carcinoma Dysregulation of KRT77 expression is observed in tumor tissues, potentially affecting cell adhesion and invasion. COSMIC; PubMed

Expression Profile

Tissue Expression
Tissue nTPM level
Skin 12.5 Medium
Esophagus 8.2 Low
Oral mucosa 15.1 Medium
Breast 3.4 Low
Lung 1.2 Not detected
Cell Line Expression
Cell Line nTPM Notes
HaCaT (keratinocyte) 18.3 High expression in immortalized keratinocytes
A431 (epidermoid carcinoma) 22.1 Very high expression
SCC-25 (oral squamous cell carcinoma) 14.7 Medium expression
MCF7 (breast cancer) 0.5 Not detected
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.428G>A (p.Arg143His) Missense Rare Alters keratin filament assembly; associated with EBS
c.1043T>C (p.Leu348Pro) Missense Rare Disrupts coiled-coil domain; linked to skin fragility
c.1657C>T (p.Arg553*) Nonsense Very rare Premature stop; loss of function
Mutation functional classification

Loss of Function (LOF)

Nonsense mutations (e.g., p.Arg553*) lead to truncated protein and loss of filament formation.

Gain of Function (GOF)

Not reported for KRT77.

Dominant Negative (DN)

Missense mutations (e.g., p.Arg143His) produce defective keratins that interfere with wild-type filament assembly.

Gene Ontology (GO)

• intermediate filament cytoskeleton • structural molecule activity
• epidermis development • keratinization
• cell-cell junction

Pathways

Intermediate filament organization
Keratinization
Epidermal differentiation

Protein Summary

Keratin 77 is a 58 kDa type II intermediate filament protein composed of a central alpha-helical rod domain flanked by non-helical head and tail domains. It heteropolymerizes with type I keratins (e.g., KRT14, KRT16) to form 10 nm filaments that provide mechanical resilience to epithelial cells. Post-translational modifications include phosphorylation and glycosylation, which regulate filament dynamics.

Related Products

Product name Cat.No. Species Gene ID
KRT77 Knockout HEK293 Cell Line EDJ-KQ13978 Human 374454 Details Get a Quote
KRT77 Knockout HeLa Cell Line EDJ-KQ59895 Human 374454 Details Get a Quote
KRT77 Knockout A-549 Cell Line EDJ-KQ68356 Human 374454 Details Get a Quote
KRT77 Knockout HCT 116 Cell Line EDJ-KQ76732 Human 374454 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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