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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KRT1
keratin 1
Chromosome 12 Β· 12q13.13
NCBI Gene: 3848Ensembl: ENSG00000167768.4HGNC: HGNC:6412UniProt: P04264
273PubMed Papers
26Diseases
0Drugs
48Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcarbohydrate bindingstructural constituent of skin epidermisprotein heterodimerization activityepidermolytic ichthyosisdiffuse nonepidermolytic palmoplantar keratodermaNon-epidermolytic palmoplantar keratodermaichthyosis hystrix of Curth-Macklin
✦AI Summary

KRT1 (keratin 1) encodes a major structural intermediate filament protein that plays critical roles in epidermal integrity and cellular signaling. As a key component of the cytoskeleton, KRT1 forms heterodimers with KRT10 in suprabasal differentiated keratinocytes of normal skin epidermis 1. The protein serves as a differentiation marker, with downregulated expression indicating loss of normal epidermal differentiation 2. Beyond its structural role, KRT1 functions in cellular signaling pathways, including interaction with phosphoglycerate kinase 1 (PGK1) to stabilize cytoskeletal integrity 3 and binding to carcinoembryonic antigen (CEA) to activate PI3K/AKT signaling pathways 4. KRT1 mutations cause various inherited keratodermas and ichthyoses, including palmoplantar keratoderma and epidermolytic hyperkeratosis 5. Interestingly, while human KRT1 missense variants typically cause epidermolytic hyperkeratosis, a deletion variant in dogs resulted in non-epidermolytic ichthyosis, suggesting species-specific functional differences 6. The protein also serves as a skin barrier marker in wound healing studies, with increased expression indicating restored epidermal barrier function 7. These findings establish KRT1 as both a crucial structural component and signaling mediator in epidermal homeostasis.

Sources cited
1
KRT1 forms heterodimers with KRT10 in suprabasal differentiated keratinocytes
PMID: 31374826
2
KRT1 serves as a differentiation marker in keratinocytes
PMID: 33081840
3
KRT1 interacts with PGK1 to stabilize cytoskeletal integrity
PMID: 41345115
4
KRT1 binds CEA to activate PI3K/AKT signaling pathways
PMID: 39644827
5
KRT1 mutations cause palmoplantar keratoderma and other inherited skin disorders
PMID: 39630431
6
KRT1 deletion variant causes non-epidermolytic ichthyosis in dogs
PMID: 36251712
7
KRT1 serves as a skin barrier protein marker in wound healing
PMID: 35941707
Disease Associationsβ“˜26
epidermolytic ichthyosisOpen Targets
0.83Strong
diffuse nonepidermolytic palmoplantar keratodermaOpen Targets
0.71Strong
Non-epidermolytic palmoplantar keratodermaOpen Targets
0.69Moderate
ichthyosis hystrix of Curth-MacklinOpen Targets
0.68Moderate
annular epidermolytic ichthyosisOpen Targets
0.62Moderate
epidermolytic palmoplantar keratoderma, 1Open Targets
0.53Moderate
ichthyosis, annular epidermolytic 1Open Targets
0.50Moderate
keratosis palmoplantaris striata 3Open Targets
0.49Moderate
Nonepidermolytic palmoplantar hyperkeratosisOpen Targets
0.49Moderate
Palmoplantar keratodermaOpen Targets
0.49Moderate
ichthyosis, annular epidermolytic, 2Open Targets
0.46Moderate
palmoplantar keratoderma, epidermolytic, 2Open Targets
0.46Moderate
congenital reticular ichthyosiform erythrodermaOpen Targets
0.45Moderate
palmoplantar keratoderma, epidermolyticOpen Targets
0.44Moderate
autosomal dominant epidermolytic ichthyosisOpen Targets
0.38Weak
diffuse palmoplantar keratodermaOpen Targets
0.37Weak
striate palmoplantar keratodermaOpen Targets
0.37Weak
palmoplantar keratoderma-hereditary motor and sensory neuropathy syndromeOpen Targets
0.37Weak
Localized epidermolytic hyperkeratosisOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
Epidermolytic hyperkeratosis 1UniProt
Ichthyosis hystrix, Curth-Macklin typeUniProt
Ichthyosis, annular epidermolytic, 2UniProt
Keratoderma, palmoplantar, non-epidermolyticUniProt
Keratoderma, palmoplantar, striate 3UniProt
Palmoplantar keratoderma, epidermolytic, 2UniProt
Pathogenic Variants48
NM_006121.4(KRT1):c.1436T>C (p.Ile479Thr)Pathogenic
Annular epidermolytic ichthyosis|not provided|Ichthyosis, annular epidermolytic, 2|KRT1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 479
NM_006121.4(KRT1):c.698C>T (p.Ser233Leu)Likely pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 233
NM_006121.4(KRT1):c.559C>T (p.Leu187Phe)Pathogenic
not provided|Epidermolytic hyperkeratosis 1
β˜…β˜…β˜†β˜†2024β†’ Residue 187
NM_006121.4(KRT1):c.532T>C (p.Ser178Pro)Likely pathogenic
Annular epidermolytic ichthyosis|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 178
NM_006121.4(KRT1):c.591+1G>CPathogenic
not provided|Epidermolytic hyperkeratosis 1
β˜…β˜…β˜†β˜†2023
NM_006121.4(KRT1):c.1453C>T (p.Leu485Phe)Pathogenic
not provided|6 conditions
β˜…β˜…β˜†β˜†2023β†’ Residue 485
NM_006121.4(KRT1):c.563A>G (p.Asn188Ser)Pathogenic
not provided|Palmoplantar keratoderma, epidermolytic, 2|Ichthyosis, annular epidermolytic, 2
β˜…β˜…β˜†β˜†2023β†’ Residue 188
NM_006121.4(KRT1):c.564C>A (p.Asn188Lys)Pathogenic
Epidermolytic ichthyosis|not provided|KRT1-related disorder
β˜…β˜…β˜†β˜†2022β†’ Residue 188
NM_006121.4(KRT1):c.10C>T (p.Gln4Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 4
NM_006121.4(KRT1):c.1846dup (p.Arg616fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 616
NM_006121.4(KRT1):c.1432G>C (p.Glu478Gln)Pathogenic
not provided|Epidermolytic hyperkeratosis 1
β˜…β˜†β˜†β˜†2025β†’ Residue 478
NM_006121.4(KRT1):c.1445A>G (p.Tyr482Cys)Likely pathogenic
Epidermolytic ichthyosis|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 482
NM_006121.4(KRT1):c.1757dup (p.Tyr587fs)Pathogenic
Epidermolytic ichthyosis|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 587
NM_006121.4(KRT1):c.584T>A (p.Ile195Asn)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 195
NM_006121.4(KRT1):c.1454T>A (p.Leu485His)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 485
NM_006121.4(KRT1):c.591+1G>TPathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_006121.4(KRT1):c.1434G>T (p.Glu478Asp)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 478
NM_006121.4(KRT1):c.1454T>C (p.Leu485Pro)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 485
NM_006121.4(KRT1):c.482T>C (p.Leu161Pro)Pathogenic
Epidermolytic ichthyosis|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 161
NM_006121.4(KRT1):c.1254+1G>APathogenic
not provided|Palmoplantar keratoderma, epidermolytic, 2
β˜…β˜†β˜†β˜†2023
View on ClinVar β†—
Related Genes
C1QBPProtein interaction95%KNG1Protein interaction95%FLGProtein interaction92%KRT5Protein interaction92%LORICRINProtein interaction92%DSG1Protein interaction92%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
79%
Liver
75%
Ovary
44%
Brain
1%
Heart
0%
Gene Interaction Network
Click a node to explore
KRT1C1QBPKNG1FLGKRT5LORICRINDSG1
PROTEIN STRUCTURE
Preparing viewer…
PDB6UUI Β· 2.07 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.70LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.51 [0.38–0.70]
RankingsWhere KRT1 stands among ~20K protein-coding genes
  • #1,344of 20,598
    Most Researched273 Β· top 10%
  • #1,365of 5,498
    Most Pathogenic Variants48 Β· top quartile
  • #5,325of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedKRT1
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Daphnetin inhibits proliferation and inflammatory response in human HaCaT keratinocytes and ameliorates imiquimod-induced psoriasis-like skin lesion in mice.
PMID: 33081840
Biol Res Β· 2020
1.00
2
Single-cell transcriptomics combined with interstitial fluid proteomics defines cell type-specific immune regulation in atopic dermatitis.
PMID: 32344053
J Allergy Clin Immunol Β· 2020
0.90
3
Keratin 6, 16 and 17-Critical Barrier Alarmin Molecules in Skin Wounds and Psoriasis.
PMID: 31374826
Cells Β· 2019
0.80
4
Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.
PMID: 39630431
JAMA Dermatol Β· 2025
0.70
5
First successful treatment of epidermolytic Ichthyosis with Vunakizumab: A Case Report.
PMID: 40453098
Front Immunol Β· 2025
0.68