KRT1
KRT1 Gene Summary
The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | KRT1 |
| Official Name | keratin 1 [Source:HGNC Symbol;Acc:HGNC:6412] |
| Ensembl ID | ENSG00000167768 |
| Bio databases IDs | |
| Aliases | keratin 1 |
| Synonyms | AEI2,CK1,EHK,EHK1,EPPK,K1,Kb1,Keratin 1,Keratin 2-1,KERATIN, 67K type II CYTOSKELETAL,Keratin complex 2 basic gene 1,KRT1A,Krt-2.1,KRT2-1,Krt86,NEPPK |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- structural constituent of epidermis
- protein binding
- carbohydrate binding
- Intermediate filament protein
- protein heterodimerization
Pathways
Biological processes and signaling networks where the KRT1 gene plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
- ADRB2
- SFN
- ESR1
- TNF
- ARL4D
- DIRAS2
- TNIP1
- TRIM21
- CUL4B
- PRKN
disease
- hepatocellular carcinoma
- liver cancer
- epithelial cancer
- benign neoplasia
- epithelial neoplasia
- clear cell acanthoma
- skin neoplasia
- epidermolytic palmoplantar keratoderma type 2
- epidermolytic hyperkeratosis
- nonepidermolytic palmoplantar keratoderma
regulated by
- lipopolysaccharide
- anthralin
- TP63
- sodium dodecyl sulfate
- Zn2+
- TGF beta
- Immunoglobulin
- ESR1
- dihydrotestosterone
- TGFB1
regulates
- KLK3
- MBL2
- C3
- biotin
- KNG1
- F12
- kallikrein
- PLG
- interleukin
- IL18
role in cell
- differentiation
- abnormal morphology
- binding
- abnormality
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- cornified envelope
- ficolin-1-rich granule lumen
- cytoskeleton
- cell surface
- Extracellular Space
- outer membranes
- cellular membrane
- Plasma Membrane
- desmosomes
- cytosol
- nucleoli
- nuclear scaffolds
- keratin intermediate filaments
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the KRT1 gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
- response to oxidative stress
- complement activation, lectin pathway
- negative regulation of inflammatory response
- regulation of angiogenesis
- peptide cross-linking
- keratinization
- fibrinolysis
- protein heterotetramerization
- intermediate filament organization
- establishment of skin barrier
CELLULAR COMPONENT
Where in the cell the gene product is active
- nucleus
- cornified envelope
- extracellular space
- keratin filament
- extracellular vesicular exosome
- cytoskeleton
- cytoplasm
- blood microparticle
- membrane
- cytosol
- extracellular region
MOLECULAR FUNCTION
What the gene product does at the molecular level
- structural constituent of epidermis
- protein binding
- protein heterodimerization activity
- signaling receptor activity
- carbohydrate binding