KRT1
geneOn this page
Also known as KRT1A
Summary
KRT1 (keratin 1, HGNC:6412) is a protein-coding gene on chromosome 12q13.13, encoding Keratin, type II cytoskeletal 1 (P04264). May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1).
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.
Source: NCBI Gene 3848 — RefSeq curated summary.
At a glance
- Gene–disease (curated): annular epidermolytic ichthyosis (Definitive, GenCC) — +10 more curated relationships
- Clinical variants (ClinVar): 282 total — 29 pathogenic, 16 likely-pathogenic
- Phenotypes (HPO): 54
- MANE Select transcript:
NM_006121
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6412 |
| Approved symbol | KRT1 |
| Name | keratin 1 |
| Location | 12q13.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KRT1A |
| Ensembl gene | ENSG00000167768 |
| Ensembl biotype | protein_coding |
| OMIM | 139350 |
| Entrez | 3848 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 1 protein_coding, 1 retained_intron
ENST00000252244, ENST00000548765
RefSeq mRNA: 1 — MANE Select: NM_006121
NM_006121
CCDS: CCDS8836
Canonical transcript exons
ENST00000252244 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000837921 | 52679758 | 52680407 |
| ENSE00000837930 | 52677316 | 52677480 |
| ENSE00001116745 | 52674736 | 52675617 |
| ENSE00001154264 | 52675710 | 52675744 |
| ENSE00001154292 | 52677650 | 52677745 |
| ENSE00001154308 | 52678542 | 52678756 |
| ENSE00001772895 | 52678163 | 52678223 |
| ENSE00003567229 | 52677059 | 52677184 |
| ENSE00003624098 | 52676275 | 52676495 |
Expression profiles
Bgee: expression breadth ubiquitous, 177 present calls, max score 99.97.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 16.0684 / max 6803.1682, expressed in 108 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 131121 | 12.2186 | 55 |
| 131120 | 3.6781 | 55 |
| 206718 | 0.1452 | 13 |
| 131119 | 0.0266 | 9 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mammalian vulva | UBERON:0000997 | 99.97 | gold quality |
| upper leg skin | UBERON:0004262 | 99.97 | gold quality |
| skin of hip | UBERON:0001554 | 99.96 | gold quality |
| upper arm skin | UBERON:0004263 | 99.96 | gold quality |
| penis | UBERON:0000989 | 99.91 | gold quality |
| nipple | UBERON:0002030 | 99.90 | gold quality |
| skin of abdomen | UBERON:0001416 | 99.48 | gold quality |
| skin of leg | UBERON:0001511 | 99.44 | gold quality |
| zone of skin | UBERON:0000014 | 99.15 | gold quality |
| cervix epithelium | UBERON:0004801 | 98.27 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 98.18 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 97.66 | gold quality |
| gingiva | UBERON:0001828 | 97.14 | gold quality |
| gingival epithelium | UBERON:0001949 | 96.27 | gold quality |
| vagina | UBERON:0000996 | 90.48 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 89.43 | gold quality |
| thymus | UBERON:0002370 | 88.79 | gold quality |
| squamous epithelium | UBERON:0006914 | 88.61 | gold quality |
| blood | UBERON:0000178 | 86.97 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 84.13 | gold quality |
| esophagus mucosa | UBERON:0002469 | 82.83 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 82.37 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 81.38 | gold quality |
| gastrocnemius | UBERON:0001388 | 80.28 | gold quality |
| uterine cervix | UBERON:0000002 | 80.10 | gold quality |
| right lung | UBERON:0002167 | 78.83 | gold quality |
| mouth mucosa | UBERON:0003729 | 78.82 | gold quality |
| bone marrow | UBERON:0002371 | 78.05 | gold quality |
| esophagus | UBERON:0001043 | 78.00 | gold quality |
| mucosa of stomach | UBERON:0001199 | 77.66 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 10.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8142 | yes | 8734.51 |
| E-GEOD-70580 | yes | 889.10 |
| E-CURD-88 | yes | 34.64 |
| E-MTAB-8410 | yes | 13.90 |
| E-CURD-112 | yes | 11.47 |
| E-MTAB-9221 | yes | 11.23 |
| E-CURD-46 | yes | 4.88 |
| E-MTAB-9067 | yes | 3.58 |
| E-HCAD-10 | yes | 3.57 |
| E-MTAB-9467 | no | 1.41 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AR, CRH, CTNNB1, IL1B, MED1, NCOA3, PAX6, RUNX1, TCF7L2, TGFB1, TGFB2, VDR
miRNA regulators (miRDB)
46 targeting KRT1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-1255A | 99.74 | 68.09 | 744 |
| HSA-MIR-1255B-5P | 99.74 | 68.16 | 741 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-452-5P | 99.65 | 69.63 | 1762 |
| HSA-MIR-4756-3P | 99.62 | 66.30 | 1319 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-105-5P | 99.54 | 69.24 | 2060 |
| HSA-MIR-7853-5P | 99.54 | 69.30 | 2055 |
| HSA-MIR-203A-3P | 99.49 | 70.56 | 2806 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-5580-5P | 99.38 | 66.96 | 1139 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
Literature-anchored findings (GeneRIF, showing 40)
- alpha-keratin intermediate filaments have a low-density core as seen by cryoelectron microscopy (PMID:12064938)
- The humans hair Keratin 1 genes are each clustered in the genome and clusters are part of the large typeI epithelial keratin gene domains on chromosomes. (PMID:15797458)
- bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1. (PMID:16361731)
- A new genetic polymorphism has been detected, which is especially prevalent among the African-American population. (PMID:16417221)
- Allelic expression differences result from the cumulative contribution of multiple DNA sequence polymorphisms. (PMID:16789827)
- Data demonstrate that genetic variants in the KRT1 interval contribute to quantifiable differences in the migration rates of keratinocytes isolated from different individuals. (PMID:17668073)
- RT-PCR and western blot analysis revealed a delay in the expression of the differentiation markers K1, K10 and involucrin in HaCaT cells compared with normal human keratinocytes (PMID:18637039)
- The 2 keratin 1 mutations are associated with tonotubular keratin, i.e. ‘whorls’ of aggregated keratin that form tubules as seen in transverse or in longitudinal sections (PMID:18795921)
- Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree. (PMID:19470048)
- Keratin 1, an intermediate filament network component, is the binding partner of the lymphocytic choriomeningitis virus nucleoprotein. (PMID:19494018)
- Infection by HPV may alter the differentiation status of the epidermis, leading to delayed or absent expression of cytokeratin 1. (PMID:19515043)
- keratin 1 L12 domain mutations are associated with a milder epidermolytic ichthyosis phenotype with pronounced palmoplantar keratoderma, and without neonatal erythroderma and scaling. (PMID:20500210)
- mutation analysis in patients with epidermolytic ichthyosis by direct sequencing of KRT1 and KRT10 genes; identified 14 different mutations, of which four have not been published previously (PMID:21271994)
- High cytokeratin is associated with colorectal carcinogenesis. (PMID:21912905)
- we describe one Chinese family affected with EHK, type PS-1 (severe palmoplantar hyperkeratosis, type 1) and report a recurrent missense mutation (c.1436T>C) in the 2B rod domain of KRT1 in this family. (PMID:22250628)
- Identification Keratin 1 as a cDDP-resistant protein in nasopharyngeal carcinoma cell lines. (PMID:22348822)
- study reports 2 related women of Colombian origin, affected by a severe ichthyosis curth-macklin phenotype, who present a novel KRT1 mutation c.1577delG (p.Gly526Alafs*88) (PMID:22834809)
- Absence of Krt1 caused a prenatal increase in interleukin-18 (IL-18) and the S100A8 and S100A9 proteins, accompanied by a barrier defect and perinatal lethality. (PMID:23132931)
- Among Japanese patients with bullous congenital ichthyosiform erythroderma for which genetic diagnosis was determined, all showed mustations in KRT1 or KRT10. (PMID:23182068)
- Case Report/Letter: specific mutation in 2B domain of KRT1 gives rise to mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens. (PMID:23623204)
- identified among endothelial antigens to which antibodies are produced during heart transplant rejection (PMID:23707440)
- Hsp74, a potential bladder cancer marker, has direct interaction with keratin 1. (PMID:25050384)
- Decreased levels of cytokeratin-1 is associated with breast cancer. (PMID:25073515)
- analysis of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma (PMID:25429721)
- In HeLa cells transiently expressing C2GnT-M-GFP, knockdown of KRT1 does not affect Golgi morphology but leaves C2GnT-M outside of the Golgi, resulting in the formation of sialyl-T antigen. (PMID:25605727)
- In ichthyosis with confetti, a causal de novo KRT1 mutation had a C-terminal frameshift, replacing 22 C-terminal AAs with an alternate 30-AA peptide. It distorted the IF network and mislocalized to the nucleus. Reversion occurred by mitotic recombination. (PMID:25774499)
- In our study, the missense mutation in the proband and his mother with epidermolytic ichthyosis was a single amino acid difference in codon 478, which causes more serious skin manifestations (PMID:25808222)
- demonstrated the presence of a genetic cutaneous mosaicism. Both patients carry the KRT1 pI479T substitution, but in the palmoplantar areas of one of them, only the mutated allele is expressed (hemizygous). This leads to highlight a new type of cutaneous mosaic, the palmoplantar mosaicism (PMID:25904304)
- Complete structure of an epithelial keratin 1/keratin 10 dimer has been presented. (PMID:26181054)
- These findings indicate that exogenous FABP4 interacts with plasma membrane proteins, specifically CK1. (PMID:26343611)
- Report genetic/clinical spectrum of KRT1 mutations in keratinopathic ichthyosis. (PMID:26581228)
- Results show that missense mutations exert dominant negative effects on the keratins K1/K10 protein structure by altering inter-chain interactions. (PMID:27421141)
- The authors report a large Italian family affected Palmoplantar Keratoderma and Charcot Marie Tooth disease. Two different mutated genes, KRT1 and MPZ were responsible for the two main clinical signs. Exome analysis detected two missense mutations, one in KRT1 and one in MPZ. (PMID:27639257)
- Case Report: post-zygotic mosaicism of KRT/1o mutations in epidermolytic Ichthyosis. (PMID:27722766)
- KRT1 played an important role of maintaining epithelial barrier and its down-regulation in intestinal tissue was correlated with the progression of inflammatory bowel disease. (PMID:28111259)
- KRT1 and the specific polymorphism of KRT1 in this Chinese Han population are associated with autoimmune diseases SLE and SSc (PMID:29028840)
- PAWS1 interacts and co-localises with the alpha isoform of casein kinase 1 (CK1), and that PAWS1 mutations incapable of binding CK1 fail both to activate Wnt signalling and to elicit axis duplication in Xenopus embryos. (PMID:29514862)
- A colon score derived from serum CEA, CA19-9, CK1 and MUC1 is a potential valuable non-invasive index that could be used for detection and screening early stage colon cancer patients (PMID:29734875)
- Results showed identical expression pattern for KRT1 and KRT10, their expression was higher in pediatric cases than in adults, especially in pediatric recurrent samples. (PMID:30021014)
- Study reports four unrelated cases (one with sporadic epidermolytic ichthyosis and three with autosomal dominant palmoplantar keratoderma), due to two novel and two recurrent KRT1 mutations. Mutations in KRT1 are not only scattered throughout the keratin 1 protein, as opposed to being clustered, but can result in a range of phenotypes as further confirmed by these mutations, giving a complex genotype/phenotype pattern. (PMID:30288772)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Krt1 | ENSMUSG00000046834 |
| rattus_norvegicus | Krt1 | ENSRNOG00000028996 |
Paralogs (68): KRT33A (ENSG00000006059), VIM (ENSG00000026025), KRT31 (ENSG00000094796), NEFM (ENSG00000104722), KRT23 (ENSG00000108244), KRT37 (ENSG00000108417), KRT32 (ENSG00000108759), KRT18 (ENSG00000111057), LMNB1 (ENSG00000113368), KRT36 (ENSG00000126337), KRT17 (ENSG00000128422), GFAP (ENSG00000131095), KRT34 (ENSG00000131737), KRT33B (ENSG00000131738), NES (ENSG00000132688), PRPH (ENSG00000135406), KRT85 (ENSG00000135443), KRT7 (ENSG00000135480), KRT71 (ENSG00000139648), INA (ENSG00000148798), LMNTD1 (ENSG00000152936), LMNA (ENSG00000160789), KRT84 (ENSG00000161849), KRT82 (ENSG00000161850), KRT80 (ENSG00000167767), KRT24 (ENSG00000167916), KRT8 (ENSG00000170421), KRT78 (ENSG00000170423), KRT86 (ENSG00000170442), KRT75 (ENSG00000170454), KRT6C (ENSG00000170465), KRT4 (ENSG00000170477), KRT74 (ENSG00000170484), KRT72 (ENSG00000170486), KRT83 (ENSG00000170523), BFSP2 (ENSG00000170819), KRT19 (ENSG00000171345), KRT15 (ENSG00000171346), KRT38 (ENSG00000171360), KRT13 (ENSG00000171401)
Protein
Protein identifiers
Keratin, type II cytoskeletal 1 — P04264 (reviewed: P04264)
Alternative names: 67 kDa cytokeratin, Cytokeratin-1, Hair alpha protein, Keratin-1, Type-II keratin Kb1
All UniProt accessions (1): P04264
UniProt curated annotations — full annotation on UniProt →
Function. May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1). In complex with C1QBP is a high affinity receptor for kininogen-1/HMWK.
Subunit / interactions. Heterotetramer of two type I and two type II keratins. Heterodimer with KRT10. Two heterodimers of KRT1 and KRT10 form a heterotetramer. Forms a heterodimer with KRT14; the interaction is more abundant in the absence of KRT5. Interacts with PLEC isoform 1C, when in a heterodimer with KRT10. Interacts with ITGB1 in the presence of RACK1 and SRC, and with RACK1. Interacts with C1QBP; the association represents a cell surface kininogen receptor. Interacts with EPPK1; interaction is dependent of higher-order structure of intermediate filament.
Subcellular location. Cell membrane. Cytoplasm.
Tissue specificity. The source of this protein is neonatal foreskin. The 67-kDa type II keratins are expressed in terminally differentiating epidermis.
Post-translational modifications. Undergoes deimination of some arginine residues (citrullination).
Disease relevance. Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] A skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. EHK1 inheritance is autosomal dominant or autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. Ichthyosis hystrix, Curth-Macklin type (IHCM) [MIM:146590] A genodermatosis with severe verrucous hyperkeratosis. Affected individuals manifest congenital verrucous black scale on the scalp, neck, and limbs with truncal erythema, palmoplantar keratoderma and keratoses on the lips, ears, nipples and buttocks. The disease is caused by variants affecting the gene represented in this entry. Keratoderma, palmoplantar, non-epidermolytic (NEPPK) [MIM:600962] A dermatological disorder characterized by well-demarcated hyperkeratosis is present over the palms and soles. A red band is frequently present at the periphery of the keratosis. It is usually non-transgredient, with a sharp demarcation of the lesions at the wrists. The disease is caused by variants affecting the gene represented in this entry. Ichthyosis, annular epidermolytic, 2 (AEI2) [MIM:620148] A form of annular epidermolytic ichthyosis, an autosomal dominant skin disorder characterized by polycyclic, migratory erythematous and scaly plaques. AEI2 patients manifest erythema and blistering of skin at birth that improves without scarring, as well as palmoplantar keratoderma. The disease is caused by variants affecting the gene represented in this entry. Keratoderma, palmoplantar, striate 3 (SPPK3) [MIM:607654] A dermatological disorder characterized by thickening of the stratum corneum and epidermal layers on palms and soles. There is no involvement of non-palmoplantar skin, and both hair and nails are normal. The disease is caused by variants affecting the gene represented in this entry. Palmoplantar keratoderma, epidermolytic, 2 (EPPK2) [MIM:620411] A form of epidermolytic palmoplantar keratoderma, a dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal joints. EPPK2 is an autosomal dominant form in which hyperkeratosis is restricted to palms and soles and is apparent from birth or childhood. The disease is caused by variants affecting the gene represented in this entry.
Induction. Repressed in keratinocytes by all-trans retinoic acid (ATRA), via reduction of mRNA stability.
Polymorphism. There are two size variants of KRT1, termed allele 1A and allele 1B with allelic frequencies of 0.61 and 0.39. Allele 1B lacks 7 residues compared to allele 1A.
Miscellaneous. There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).
Similarity. Belongs to the intermediate filament family.
RefSeq proteins (1): NP_006112* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003054 | Keratin_II | Family |
| IPR018039 | IF_conserved | Conserved_site |
| IPR032444 | Keratin_2_head | Domain |
| IPR032449 | Keratin_2_1_tail | Domain |
| IPR039008 | IF_rod_dom | Domain |
Pfam: PF00038, PF16208, PF16210
UniProt features (75 total): sequence variant 29, sequence conflict 14, region of interest 10, modified residue 10, compositionally biased region 6, helix 2, initiator methionine 1, chain 1, site 1, domain 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6UUI | X-RAY DIFFRACTION | 2.07 |
| 6E2J | X-RAY DIFFRACTION | 2.39 |
| 4ZRY | X-RAY DIFFRACTION | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P04264-F1 | 66.62 | 0.31 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 433 (stutter)
Post-translational modifications (10): 12, 18, 21, 45, 66, 82, 276, 344, 518, 588
Function
Pathways and Gene Ontology
Reactome pathways
10 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-6805567 | Keratinization |
| R-HSA-6809371 | Formation of the cornified envelope |
| R-HSA-9725554 | Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin |
| R-HSA-9855719 | Regulation of FXIIa and plasma kallikrein activity |
| R-HSA-9970672 | FXIIa activates plasma kallikrein-kinin system |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-9734767 | Developmental Cell Lineages |
MSigDB gene sets: 311 (showing top):
VERHAAK_AML_WITH_NPM1_MUTATED_DN, GOBP_EPITHELIUM_DEVELOPMENT, MORF_FLT1, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GOBP_REGULATION_OF_WOUND_HEALING, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, GOBP_INFLAMMATORY_RESPONSE, GOBP_REGULATION_OF_COAGULATION, JAEGER_METASTASIS_DN, GOCC_SECRETORY_GRANULE, MORF_ESR1, GOBP_NEGATIVE_REGULATION_OF_COAGULATION, GOBP_WOUND_HEALING, VART_KSHV_INFECTION_ANGIOGENIC_MARKERS_UP
GO Biological Process (11): complement activation, lectin pathway (GO:0001867), response to oxidative stress (GO:0006979), keratinization (GO:0031424), fibrinolysis (GO:0042730), intermediate filament organization (GO:0045109), regulation of angiogenesis (GO:0045765), negative regulation of inflammatory response (GO:0050728), protein heterotetramerization (GO:0051290), establishment of skin barrier (GO:0061436), cornification (GO:0070268), peptide cross-linking (GO:0018149)
GO Molecular Function (5): carbohydrate binding (GO:0030246), structural constituent of skin epidermis (GO:0030280), signaling receptor activity (GO:0038023), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515)
GO Cellular Component (14): cornified envelope (GO:0001533), extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856), membrane (GO:0016020), keratin filament (GO:0045095), extracellular exosome (GO:0070062), blood microparticle (GO:0072562), ficolin-1-rich granule lumen (GO:1904813), intermediate filament (GO:0005882), plasma membrane (GO:0005886)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 2 |
| Developmental Biology | 2 |
| Keratinization | 1 |
| Developmental Cell Lineages of the Integumentary System | 1 |
| FXIIa activates plasma kallikrein-kinin system | 1 |
| Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| binding | 2 |
| complement activation | 1 |
| innate immune response | 1 |
| response to stress | 1 |
| keratinocyte differentiation | 1 |
| multicellular organismal process | 1 |
| negative regulation of blood coagulation | 1 |
| intermediate filament cytoskeleton organization | 1 |
| supramolecular fiber organization | 1 |
| angiogenesis | 1 |
| regulation of anatomical structure morphogenesis | 1 |
| regulation of vasculature development | 1 |
| inflammatory response | 1 |
| negative regulation of defense response | 1 |
| negative regulation of response to external stimulus | 1 |
| regulation of inflammatory response | 1 |
| protein tetramerization | 1 |
| protein heterooligomerization | 1 |
| skin epidermis development | 1 |
| programmed cell death | 1 |
| keratinization | 1 |
| cornified envelope assembly | 1 |
| protein modification process | 1 |
| structural molecule activity | 1 |
| molecular transducer activity | 1 |
| protein dimerization activity | 1 |
| plasma membrane | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular membraneless organelle | 1 |
| intermediate filament | 1 |
| extracellular vesicle | 1 |
| extracellular region | 1 |
| intracellular organelle lumen | 1 |
| ficolin-1-rich granule | 1 |
| intermediate filament cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| membrane | 1 |
Protein interactions and networks
STRING
2222 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KRT1 | KRT10 | P13645 | 968 |
| KRT1 | C1QBP | Q07021 | 949 |
| KRT1 | FLG | P20930 | 942 |
| KRT1 | FLG2 | Q5D862 | 942 |
| KRT1 | LORICRIN | P23490 | 917 |
| KRT1 | DSG1 | Q02413 | 903 |
| KRT1 | KNG1 | P01042 | 901 |
| KRT1 | IVL | P07476 | 850 |
| KRT1 | DSG3 | P32926 | 716 |
| KRT1 | EPHA6 | Q9UF33 | 713 |
| KRT1 | LRRC26 | Q2I0M4 | 712 |
| KRT1 | PLAUR | Q03405 | 699 |
| KRT1 | CDSN | Q15517 | 670 |
| KRT1 | TGM1 | P22735 | 669 |
| KRT1 | DSP | P15924 | 662 |
IntAct
212 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KRT1 | NUP62 | psi-mi:“MI:0915”(physical association) | 0.740 |
| KRT1 | KRT15 | psi-mi:“MI:0915”(physical association) | 0.740 |
| KRT1 | KRT33B | psi-mi:“MI:0915”(physical association) | 0.740 |
| KRT1 | GOLGA2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| KRT10 | KRT1 | psi-mi:“MI:0407”(direct interaction) | 0.650 |
| KRT10 | KRT1 | psi-mi:“MI:0915”(physical association) | 0.650 |
| KRT1 | TRIM27 | psi-mi:“MI:0915”(physical association) | 0.600 |
BioGRID (282): KRT1 (Affinity Capture-MS), KRT1 (Affinity Capture-MS), KRT1 (Affinity Capture-MS), KRT1 (Affinity Capture-MS), KRT1 (Co-fractionation), KRT10 (Co-fractionation), KRT2 (Co-fractionation), KRT5 (Co-fractionation), KRT77 (Co-fractionation), PRSS1 (Co-fractionation), KRT1 (Affinity Capture-MS), KRT1 (Affinity Capture-MS), KRT1 (Reconstituted Complex), KRT1 (Affinity Capture-MS), KRT1 (Affinity Capture-MS)
ESM2 similar proteins: A5A6M6, A5A6M8, O95678, P02535, P02537, P02538, P04104, P04259, P04264, P06394, P07744, P08776, P12035, P13645, P13647, P16878, P18520, P19013, P35527, P35908, P48668, P50446, Q01546, Q08D91, Q148H7, Q29426, Q2M2I5, Q3TTY5, Q3UV17, Q4FZU2, Q5XQN5, Q6EIY9, Q6EIZ0, Q6EIZ1, Q6IFW6, Q6IFZ6, Q6IG00, Q6IG01, Q6IG02, Q6IG05
Diamond homologs: A0A8C0N8E3, A0JND2, A3KN27, A4FUZ0, A5A6M6, A5A6M8, A5A6N0, A6QNX5, A6QQJ3, A7YWK3, E1AB55, O43790, O93532, O95678, P02538, P04104, P04259, P04264, P04265, P04266, P05786, P05787, P07744, P08670, P08729, P08776, P11679, P12035, P13647, P15241, P15331, P16878, P18520, P19013, P21807, P25691, P35908, P41219, P48616, P48668
SIGNOR signaling
8 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| KRT1 | “up-regulates activity” | APC | phosphorylation |
| PLAUR | “up-regulates activity” | KRT1 | binding |
| C1QBP | “up-regulates activity” | KRT1 | binding |
| CRH | “up-regulates quantity by expression” | KRT1 | “transcriptional regulation” |
| IL1B | “down-regulates quantity by repression” | KRT1 | “transcriptional regulation” |
| TGFB1 | “down-regulates quantity by repression” | KRT1 | “transcriptional regulation” |
| TGFB2 | “down-regulates quantity by repression” | KRT1 | “transcriptional regulation” |
| KRT1 | “up-regulates quantity” | MPO | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 123 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Formation of the cornified envelope | 19 | 19.2× | 6e-17 |
| Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin | 5 | 16.0× | 1e-03 |
| Developmental Cell Lineages | 5 | 12.9× | 3e-03 |
| Keratinization | 19 | 12.2× | 2e-13 |
| Macroautophagy | 6 | 8.0× | 6e-03 |
| Neddylation | 13 | 7.1× | 4e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| morphogenesis of an epithelium | 19 | 62.8× | 2e-27 |
| intermediate filament organization | 19 | 44.0× | 4e-24 |
| epithelial cell differentiation | 16 | 27.0× | 2e-16 |
| intrinsic apoptotic signaling pathway | 7 | 24.1× | 2e-06 |
| autophagosome maturation | 5 | 16.9× | 1e-03 |
| mitophagy | 5 | 15.3× | 2e-03 |
| G1/S transition of mitotic cell cycle | 6 | 11.6× | 1e-03 |
| autophagosome assembly | 5 | 10.8× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
282 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 29 |
| Likely pathogenic | 16 |
| Uncertain significance | 131 |
| Likely benign | 27 |
| Benign | 32 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 15907 | NM_006121.4(KRT1):c.931G>C (p.Glu311Gln) | Pathogenic |
| 15908 | NM_006121.4(KRT1):c.482T>C (p.Leu161Pro) | Pathogenic |
| 15910 | NM_006121.4(KRT1):c.221A>T (p.Lys74Ile) | Pathogenic |
| 15912 | NM_006121.4(KRT1):c.1435A>T (p.Ile479Phe) | Pathogenic |
| 15913 | NM_006121.4(KRT1):c.464T>A (p.Val155Asp) | Pathogenic |
| 15914 | NM_006121.4(KRT1):c.564C>A (p.Asn188Lys) | Pathogenic |
| 15919 | NM_006121.4(KRT1):c.1609_1610delinsA (p.Gly537fs) | Pathogenic |
| 15921 | NM_006121.4(KRT1):c.1757dup (p.Tyr587fs) | Pathogenic |
| 1698955 | NM_006121.4(KRT1):c.1433A>G (p.Glu478Gly) | Pathogenic |
| 1799555 | NM_006121.4(KRT1):c.1860dup (p.Gly621fs) | Pathogenic |
| 1799556 | NM_006121.4(KRT1):c.1577del (p.Gly526fs) | Pathogenic |
| 2098673 | NM_006121.4(KRT1):c.584T>A (p.Ile195Asn) | Pathogenic |
| 2664090 | NM_006121.4(KRT1):c.560T>C (p.Leu187Pro) | Pathogenic |
| 391788 | NM_006121.4(KRT1):c.1434G>C (p.Glu478Asp) | Pathogenic |
| 451394 | NM_006121.4(KRT1):c.591+1G>T | Pathogenic |
| 4686620 | NM_006121.4(KRT1):c.1255-1G>T | Pathogenic |
| 4718755 | NM_006121.4(KRT1):c.1846dup (p.Arg616fs) | Pathogenic |
| 548649 | NM_006121.4(KRT1):c.1865dup (p.Val623fs) | Pathogenic |
| 66619 | NM_006121.4(KRT1):c.1254+1G>A | Pathogenic |
| 66622 | NM_006121.4(KRT1):c.1376_1399del (p.Ala459_Gln466del) | Pathogenic |
| 66626 | NM_006121.4(KRT1):c.1432G>C (p.Glu478Gln) | Pathogenic |
| 66627 | NM_006121.4(KRT1):c.1434G>T (p.Glu478Asp) | Pathogenic |
| 66636 | NM_006121.4(KRT1):c.1556del (p.Gly519fs) | Pathogenic |
| 66638 | NM_006121.4(KRT1):c.1628del (p.Gly543fs) | Pathogenic |
| 66648 | NM_006121.4(KRT1):c.559C>T (p.Leu187Phe) | Pathogenic |
| 66651 | NM_006121.4(KRT1):c.571T>A (p.Phe191Ile) | Pathogenic |
| 66656 | NM_006121.4(KRT1):c.591+1G>C | Pathogenic |
| 66657 | NM_006121.4(KRT1):c.591+2T>A | Pathogenic |
| 66659 | NM_006121.4(KRT1):c.623T>C (p.Leu208Pro) | Pathogenic |
| 1193914 | NM_006121.4(KRT1):c.593T>G (p.Val198Gly) | Likely pathogenic |
SpliceAI
766 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:52675613:CACAG:C | acceptor_gain | 1.0000 |
| 12:52675614:ACAGC:A | acceptor_loss | 1.0000 |
| 12:52675615:CAG:C | acceptor_gain | 1.0000 |
| 12:52675618:C:CC | acceptor_gain | 1.0000 |
| 12:52675618:CTGCA:C | acceptor_loss | 1.0000 |
| 12:52675708:A:AC | donor_gain | 1.0000 |
| 12:52675709:C:CC | donor_gain | 1.0000 |
| 12:52675709:CA:C | donor_gain | 1.0000 |
| 12:52675709:CACA:C | donor_gain | 1.0000 |
| 12:52675741:CATC:C | acceptor_gain | 1.0000 |
| 12:52675742:ATC:A | acceptor_gain | 1.0000 |
| 12:52675743:TC:T | acceptor_gain | 1.0000 |
| 12:52675744:CC:C | acceptor_gain | 1.0000 |
| 12:52675745:C:CC | acceptor_gain | 1.0000 |
| 12:52676264:C:A | donor_gain | 1.0000 |
| 12:52676269:CCTCA:C | donor_loss | 1.0000 |
| 12:52676270:CTCA:C | donor_loss | 1.0000 |
| 12:52676271:TCA:T | donor_loss | 1.0000 |
| 12:52676272:CACCT:C | donor_loss | 1.0000 |
| 12:52676273:A:AC | donor_gain | 1.0000 |
| 12:52676274:C:CA | donor_loss | 1.0000 |
| 12:52676274:C:CC | donor_gain | 1.0000 |
| 12:52676274:CCTG:C | donor_gain | 1.0000 |
| 12:52676491:GAGAT:G | acceptor_gain | 1.0000 |
| 12:52676492:AGAT:A | acceptor_gain | 1.0000 |
| 12:52676493:GAT:G | acceptor_gain | 1.0000 |
| 12:52676494:AT:A | acceptor_gain | 1.0000 |
| 12:52676496:C:CC | acceptor_gain | 1.0000 |
| 12:52677056:TA:T | donor_loss | 1.0000 |
| 12:52677058:C:CA | donor_loss | 1.0000 |
AlphaMissense
4203 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:52678166:C:A | K288N | 1.000 |
| 12:52678166:C:G | K288N | 1.000 |
| 12:52676432:C:G | A440P | 0.999 |
| 12:52676465:C:G | A429P | 0.999 |
| 12:52677339:C:G | A369P | 0.999 |
| 12:52678168:T:C | K288E | 0.999 |
| 12:52678178:A:C | F284L | 0.999 |
| 12:52678178:A:T | F284L | 0.999 |
| 12:52678180:A:G | F284L | 0.999 |
| 12:52678192:C:G | A280P | 0.999 |
| 12:52678200:C:G | R277P | 0.999 |
| 12:52678548:C:G | R267P | 0.999 |
| 12:52678716:T:A | K211I | 0.999 |
| 12:52678725:A:G | L208P | 0.999 |
| 12:52678740:T:G | Q203P | 0.999 |
| 12:52678746:A:G | L201P | 0.999 |
| 12:52679774:G:T | A192D | 0.999 |
| 12:52679776:A:C | F191L | 0.999 |
| 12:52679776:A:T | F191L | 0.999 |
| 12:52679777:A:C | F191C | 0.999 |
| 12:52679777:A:G | F191S | 0.999 |
| 12:52679778:A:G | F191L | 0.999 |
| 12:52679785:G:C | N188K | 0.999 |
| 12:52679785:G:T | N188K | 0.999 |
| 12:52679789:A:G | L187P | 0.999 |
| 12:52676296:A:G | L485P | 0.998 |
| 12:52676306:A:G | Y482H | 0.998 |
| 12:52676312:C:G | A480P | 0.998 |
| 12:52676326:A:G | L475P | 0.998 |
| 12:52676347:A:G | L468P | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000232466 (12:52676072 G>A), RS1000300354 (12:52682329 C>G,T), RS1000448559 (12:52681424 C>A), RS1000569884 (12:52674433 C>A,T), RS1000764461 (12:52681863 A>G), RS1001063317 (12:52680939 A>C), RS1001230054 (12:52677711 A>C), RS1001468383 (12:52677910 C>G), RS1002051792 (12:52679032 T>C), RS1003816848 (12:52679355 A>G,T), RS1004946466 (12:52676669 A>C,G), RS1005083239 (12:52677640 G>T), RS1005672197 (12:52674450 C>T), RS1006946510 (12:52676816 T>C,G), RS1007721408 (12:52681697 G>A)
Disease associations
OMIM: gene MIM:139350 | disease phenotypes: MIM:113800, MIM:600962, MIM:607602, MIM:620148, MIM:146590, MIM:620411, MIM:607654, MIM:144200, MIM:609165
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| ichthyosis hystrix of Curth-Macklin | Definitive | Autosomal dominant |
| annular epidermolytic ichthyosis | Definitive | Autosomal dominant |
| ichthyosis, annular epidermolytic, 2 | Strong | Autosomal dominant |
| epidermolytic ichthyosis | Strong | Autosomal dominant |
| diffuse nonepidermolytic palmoplantar keratoderma | Strong | Autosomal dominant |
| ichthyosis, annular epidermolytic 1 | Strong | Autosomal dominant |
| palmoplantar keratosis | Strong | Autosomal dominant |
| ichthyosis | Strong | Autosomal dominant |
| congenital reticular ichthyosiform erythroderma | Supportive | Autosomal dominant |
| striate palmoplantar keratoderma | Supportive | Autosomal dominant |
| autosomal recessive congenital ichthyosis 11 | Limited | Autosomal recessive |
Mondo (17): epidermolytic ichthyosis (MONDO:0007239), diffuse nonepidermolytic palmoplantar keratoderma (MONDO:0010962), annular epidermolytic ichthyosis (MONDO:0011870), ichthyosis, annular epidermolytic, 2 (MONDO:0859574), ichthyosis hystrix of Curth-Macklin (MONDO:0007808), prostate cancer (MONDO:0008315), epidermolytic hyperkeratosis 1 (MONDO:0700249), palmoplantar keratoderma, epidermolytic, 2 (MONDO:0957303), ichthyosis, annular epidermolytic 1 (MONDO:0100303), ichthyosis (MONDO:0019269), keratosis palmoplantaris striata 3 (MONDO:0011881), palmoplantar keratoderma, epidermolytic (MONDO:0968949), congenital reticular ichthyosiform erythroderma (MONDO:0012208), hereditary angioedema with normal C1Inh (MONDO:0100567), autosomal recessive congenital ichthyosis 11 (MONDO:0011218)
Orphanet (9): Autosomal dominant epidermolytic ichthyosis (Orphanet:312), KRT1-related diffuse nonepidermolytic keratoderma (Orphanet:530838), Annular epidermolytic ichthyosis (Orphanet:281139), Ichthyosis hystrix of Curth-Macklin (Orphanet:79503), Familial prostate cancer (Orphanet:1331), Ichthyosis (Orphanet:79354), Congenital reticular ichthyosiform erythroderma (Orphanet:281190), Hereditary angioedema with normal C1Inh (Orphanet:528647), Thost-Unna palmoplantar keratoderma (Orphanet:496)
HPO phenotypes
54 total (30 of 54 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000958 | Dry skin |
| HP:0000962 | Hyperkeratosis |
| HP:0000972 | Palmoplantar hyperkeratosis |
| HP:0000975 | Hyperhidrosis |
| HP:0000982 | Palmoplantar keratoderma |
| HP:0000992 | Cutaneous photosensitivity |
| HP:0001019 | Erythroderma |
| HP:0001030 | Fragile skin |
| HP:0001047 | Atopic dermatitis |
| HP:0001217 | Clubbing |
| HP:0001220 | Interphalangeal joint contracture of finger |
| HP:0001231 | Abnormal fingernail morphology |
| HP:0001371 | Flexion contracture |
| HP:0001551 | Abnormal umbilicus morphology |
| HP:0001581 | Recurrent skin infections |
| HP:0001595 | Abnormal hair morphology |
| HP:0001597 | Abnormal nail morphology |
| HP:0001598 | Concave nail |
| HP:0001824 | Weight loss |
| HP:0002212 | Curly hair |
| HP:0003577 | Congenital onset |
| HP:0004396 | Poor appetite |
| HP:0004690 | Thickened Achilles tendon |
| HP:0006203 | Decreased movement range in interphalangeal joints |
| HP:0007404 | Nonepidermolytic palmoplantar hyperkeratosis |
| HP:0007446 | Palmoplantar blistering |
| HP:0007447 | Diffuse palmoplantar hyperkeratosis |
| HP:0007460 | Autoamputation of digits |
GWAS associations
0 associations (top):
MeSH disease descriptors (8)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D017488 | Hyperkeratosis, Epidermolytic | C16.131.831.512.400.375; C16.320.850.400.375; C16.614.492.400.375; C17.800.428.333.250.375; C17.800.804.512.400.375; C17.800.827.400.375 |
| D007057 | Ichthyosis | C16.131.831.512; C16.614.492; C17.800.428.333; C17.800.804.512 |
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
| C563781 | Erythrokeratoderma, Reticular (supp.) | |
| C536088 | Ichthyosis hystrix, Curth Macklin type (supp.) | |
| C536273 | Ichthyosis with hypotrichosis, autosomal recessive (supp.) | |
| C564367 | Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis (supp.) | |
| C536163 | Keratosis palmoplantaris striata 3 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
79 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, increases reaction, decreases reaction, increases expression, affects reaction (+1 more) | 8 |
| Arsenic | decreases expression, increases abundance, affects methylation, increases expression | 5 |
| Mustard Gas | decreases reaction, increases expression, increases reaction, increases cleavage | 4 |
| Tobacco Smoke Pollution | affects expression, decreases expression | 4 |
| Particulate Matter | increases expression, decreases expression, increases abundance | 4 |
| bisphenol A | affects expression, decreases expression, decreases reaction | 2 |
| sodium arsenate | increases expression, increases reaction, decreases expression, increases abundance | 2 |
| arsenite | decreases expression, increases abundance, increases reaction, decreases reaction | 2 |
| U 0126 | decreases expression, decreases reaction, increases reaction, increases expression, increases abundance | 2 |
| N-(N-(3,5-difluorophenacetyl)alanyl)phenylglycine tert-butyl ester | decreases reaction, increases expression, decreases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | increases expression, increases methylation | 2 |
| Cadmium | decreases reaction, increases abundance, increases palmitoylation, affects binding | 2 |
| Calcium | increases expression, increases reaction, decreases reaction | 2 |
| bisphenol F | increases expression | 1 |
| 4-oxoretinoic acid | decreases expression | 1 |
| tungsten carbide | affects binding, decreases expression | 1 |
| titanium dioxide | decreases expression | 1 |
| pyrogallol 1,3-dimethyl ether | decreases expression, affects cotreatment, affects localization | 1 |
| cobaltous chloride | decreases expression | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| phenyl isocyanate | affects binding | 1 |
| epigallocatechin gallate | decreases expression | 1 |
| avobenzone | decreases expression | 1 |
| antimonite | decreases expression, increases abundance, increases reaction, decreases reaction | 1 |
| 4-((3-bromophenyl)amino)-6,7-dimethoxyquinazoline | affects cotreatment, decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| SB 203580 | decreases expression, decreases reaction, increases expression | 1 |
| 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one | increases reaction, increases expression | 1 |
Cellosaurus cell lines
4 cell lines: 3 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B8JI | Abcam HCT 116 KRT1 KO | Cancer cell line | Male |
| CVCL_B9LS | Abcam A-549 KRT1 KO | Cancer cell line | Male |
| CVCL_D2G2 | Abcam MCF-7 KRT1 KO | Cancer cell line | Female |
| CVCL_ZE30 | EH11 | Transformed cell line | Male |
Clinical trials (associated diseases)
324 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04996485 | PHASE4 | UNKNOWN | Scientific Substantiation and Assessment of the Effectiveness of Pathogenetic Methods of Therapy for Congenital Ichthyosis in Children |
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
Related Atlas pages
- Associated diseases: autosomal recessive congenital ichthyosis 11, ichthyosis, annular epidermolytic, 2, epidermolytic ichthyosis, ichthyosis hystrix of Curth-Macklin, diffuse nonepidermolytic palmoplantar keratoderma, annular epidermolytic ichthyosis, ichthyosis, annular epidermolytic 1, congenital reticular ichthyosiform erythroderma, striate palmoplantar keratoderma, palmoplantar keratosis, ichthyosis
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): annular epidermolytic ichthyosis, autosomal recessive congenital ichthyosis 11, congenital reticular ichthyosiform erythroderma, diffuse nonepidermolytic palmoplantar keratoderma, epidermolytic hyperkeratosis 1, epidermolytic ichthyosis, hereditary angioedema with normal C1Inh, ichthyosis, ichthyosis hystrix of Curth-Macklin, ichthyosis, annular epidermolytic 1, ichthyosis, annular epidermolytic, 2, keratosis palmoplantaris striata 3, palmoplantar keratoderma, epidermolytic, palmoplantar keratoderma, epidermolytic, 2, palmoplantar keratosis, striate palmoplantar keratoderma