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Aliases for KRT1 Gene

Aliases for KRT1 Gene

  • Keratin 1, Type II 2 3
  • Epidermolytic Hyperkeratosis 1 2 3
  • Type-II Keratin Kb1 3 4
  • Hair Alpha Protein 3 4
  • 67 KDa Cytokeratin 3 4
  • Cytokeratin-1 3 4
  • NEPPK 3 6
  • EPPK 3 6
  • CK-1 3 4
  • EHK 3 6
  • K1 3 4
  • Keratin, Type II Cytoskeletal 1 3
  • Cytokeratin 1 3
  • Keratin 1 2
  • Keratin-1 4
  • KRT1A 3
  • EHK1 3
  • KRTA 4
  • CK1 3

External Ids for KRT1 Gene

Previous HGNC Symbols for KRT1 Gene

  • EHK1

Previous GeneCards Identifiers for KRT1 Gene

  • GC12M053203
  • GC12M053098
  • GC12M052785
  • GC12M051354
  • GC12M053069
  • GC12M050112

Summaries for KRT1 Gene

Entrez Gene Summary for KRT1 Gene

  • 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]

GeneCards Summary for KRT1 Gene

KRT1 (Keratin 1, Type II) is a Protein Coding gene. Diseases associated with KRT1 include ichthyosis, cyclic, with epidermolytic hyperkeratosis and palmoplantar keratoderma, nonepidermolytic. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Corticotropin-releasing hormone. GO annotations related to this gene include receptor activity and carbohydrate binding. An important paralog of this gene is KRT82.

UniProtKB/Swiss-Prot for KRT1 Gene

  • May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein kinase C (RACK1/GNB2L1). In complex with C1QBP is a high affinity receptor for kininogen-1/HMWK.

Gene Wiki entry for KRT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT1 Gene

Genomics for KRT1 Gene

Regulatory Elements for KRT1 Gene

Genomic Location for KRT1 Gene

Start:
52,674,736 bp from pter
End:
52,680,407 bp from pter
Size:
5,672 bases
Orientation:
Minus strand

Genomic View for KRT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KRT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT1 Gene

Proteins for KRT1 Gene

  • Protein details for KRT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04264-K2C1_HUMAN
    Recommended name:
    Keratin, type II cytoskeletal 1
    Protein Accession:
    P04264
    Secondary Accessions:
    • B2RA01
    • P85925
    • P86104
    • Q14720
    • Q6GSJ0
    • Q9H298

    Protein attributes for KRT1 Gene

    Size:
    644 amino acids
    Molecular mass:
    66039 Da
    Quaternary structure:
    • Heterotetramer of two type I and two type II keratins. Keratin-1 is generally associated with keratin-10. Interacts with ITGB1 in the presence of GNB2L1 and SRC, and with GNB2L1. Interacts with C1QBP; the association represents a cell surface kininogen receptor.
    Miscellaneous:
    • There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa)

neXtProt entry for KRT1 Gene

Proteomics data for KRT1 Gene at MOPED

Post-translational modifications for KRT1 Gene

  • Undergoes deimination of some arginine residues (citrullination).
  • Ubiquitination at Lys197 and Lys269
  • Modification sites at PhosphoSitePlus

Other Protein References for KRT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for KRT1 Gene

Domains for KRT1 Gene

Gene Families for KRT1 Gene

HGNC:
  • IFF2 :Intermediate filaments type II, keratins (basic)

Suggested Antigen Peptide Sequences for KRT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P04264

UniProtKB/Swiss-Prot:

K2C1_HUMAN :
  • P04264
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT1: view

Function for KRT1 Gene

Molecular function for KRT1 Gene

GENATLAS Biochemistry: keratin 1,type II,epidermal,suprabasal (spinous) layer 50kDa,dimerizing with KRT10,also with KRT9. Also acting as a binding protein and presentation for kininogens on endothelial cells
UniProtKB/Swiss-Prot 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 kinase C (RACK1/GNB2L1). In complex with C1QBP is a high affinity receptor for kininogen-1/HMWK.

Gene Ontology (GO) - Molecular Function for KRT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity NAS 11290596
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 11290596
GO:0030246 carbohydrate binding IPI 11549596
genes like me logo Genes that share ontologies with KRT1: view
genes like me logo Genes that share phenotypes with KRT1: view

Animal Models for KRT1 Gene

MGI Knock Outs for KRT1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for KRT1 Gene

Localization for KRT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KRT1 Gene

Cell membrane. Note=Located on plasma membrane of neuroblastoma NMB7 cells.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRT1 Gene COMPARTMENTS Subcellular localization image for KRT1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
cytosol 3
nucleus 2
extracellular 1
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KRT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005634 nucleus IDA 21630459
GO:0005856 cytoskeleton TAS 1381288
GO:0005882 intermediate filament --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with KRT1: view

Pathways for KRT1 Gene

genes like me logo Genes that share pathways with KRT1: view

Pathways by source for KRT1 Gene

1 GeneGo (Thomson Reuters) pathway for KRT1 Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for KRT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001867 complement activation, lectin pathway IPI 11549596
GO:0001895 retina homeostasis IEP 23580065
GO:0006979 response to oxidative stress NAS 11549596
GO:0042730 fibrinolysis NAS 11290596
GO:0045765 regulation of angiogenesis NAS 11290596
genes like me logo Genes that share ontologies with KRT1: view

Compounds for KRT1 Gene

(33) Novoseek inferred chemical compound relationships for KRT1 Gene

Compound -log(P) Hits PubMed IDs
kininogen 80.4 14
ceramides 45.1 3
retinoic acid 41.8 9
tazarotene 40.5 2
12-o-tetradecanoylphorbol 13-acetate 35.5 1
genes like me logo Genes that share compounds with KRT1: view

Transcripts for KRT1 Gene

mRNA/cDNA for KRT1 Gene

(3) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(1) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KRT1 Gene

Keratin 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KRT1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for KRT1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRT1 Gene

No ASD Table

Relevant External Links for KRT1 Gene

GeneLoc Exon Structure for
KRT1
ECgene alternative splicing isoforms for
KRT1

Expression for KRT1 Gene

mRNA expression in normal human tissues for KRT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (23.8) and Skin - Sun Exposed (Lower leg) (23.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KRT1 Gene

SOURCE GeneReport for Unigene cluster for KRT1 Gene Hs.80828

mRNA Expression by UniProt/SwissProt for KRT1 Gene

P04264-K2C1_HUMAN
Tissue specificity: The source of this protein is neonatal foreskin. The 67-kDa type II keratins are expressed in terminally differentiating epidermis
genes like me logo Genes that share expressions with KRT1: view

In Situ Assay Products

Orthologs for KRT1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRT1 35
  • 98.75 (n)
  • 99.01 (a)
cow
(Bos Taurus)
Mammalia KRT1 35
  • 84.14 (n)
  • 84.06 (a)
KRT1 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KRT1 35
  • 85.32 (n)
  • 85.52 (a)
KRT1 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Krt1 35
  • 81.43 (n)
  • 83.42 (a)
Krt1 16
Krt1 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Krt1 35
  • 79.64 (n)
  • 80.77 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 59 (a)
ManyToMany
Species with no ortholog for KRT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KRT1 Gene

ENSEMBL:
Gene Tree for KRT1 (if available)
TreeFam:
Gene Tree for KRT1 (if available)

Paralogs for KRT1 Gene

Pseudogenes.org Pseudogenes for KRT1 Gene

genes like me logo Genes that share paralogs with KRT1: view

Variants for KRT1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for KRT1 Gene

P04264-K2C1_HUMAN
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

Sequence variations from dbSNP and Humsavar for KRT1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs14024 - 52,675,230(-) CGTGA(A/G)GTTTG reference, missense
rs584843 -- 52,674,706(+) GACAG(A/T)GCCGT downstream-variant-500B
rs597685 -- 52,676,904(+) TGGCT(A/G)CATTC intron-variant
rs626480 -- 52,677,554(+) GTCAG(A/G)AAATA intron-variant
rs674860 -- 52,674,687(-) ATGGG(G/T)GTTTT downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for KRT1 Gene

Variant ID Type Subtype PubMed ID
nsv832415 CNV Loss 17160897
nsv428281 CNV Gain 18775914
nsv899092 CNV Gain 21882294

Relevant External Links for KRT1 Gene

HapMap Linkage Disequilibrium report
KRT1
Human Gene Mutation Database (HGMD)
KRT1

Disorders for KRT1 Gene

(6) OMIM Diseases for KRT1 Gene (139350)

UniProtKB/Swiss-Prot

K2C1_HUMAN
  • Epidermolytic hyperkeratosis (EHK) [MIM:113800]: An autosomal dominant 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. {ECO:0000269 PubMed:10232403, ECO:0000269 PubMed:10688370, ECO:0000269 PubMed:10844506, ECO:0000269 PubMed:11531804, ECO:0000269 PubMed:12406348, ECO:0000269 PubMed:1380725, ECO:0000269 PubMed:1381288, ECO:0000269 PubMed:21271994, ECO:0000269 PubMed:7507151, ECO:0000269 PubMed:7507152, ECO:0000269 PubMed:7512983, ECO:0000269 PubMed:9856846}. Note=The disease is caused by mutations 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. {ECO:0000269 PubMed:11286616}. Note=The disease is caused by mutations 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. {ECO:0000269 PubMed:11286630, ECO:0000269 PubMed:7528239}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ichthyosis annular epidermolytic (AEI) [MIM:607602]: A skin disorder resembling bullous congenital ichthyosiform erythroderma. Affected individuals present with bullous ichthyosis in early childhood and hyperkeratotic lichenified plaques in the flexural areas and extensor surfaces at later ages. The feature that distinguishes AEI from BCIE is dramatic episodes of flares of annular polycyclic plaques with scale, which coalesce to involve most of the body surface and can persist for several weeks or even months. {ECO:0000269 PubMed:10053007, ECO:0000269 PubMed:10597140}. Note=The disease is caused by mutations 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. {ECO:0000269 PubMed:11982762}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(42) Novoseek inferred disease relationships for KRT1 Gene

Disease -log(P) Hits PubMed IDs
bullous congenital ichthyosiform erythroderma 94 16
keratoderma palmoplantar 85.3 12
hyperkeratosis 84.2 6
palmoplantar keratoderma, epidermolytic 83.5 4
ichthyosis 80.4 9

Relevant External Links for KRT1

Genetic Association Database (GAD)
KRT1
Human Genome Epidemiology (HuGE) Navigator
KRT1
genes like me logo Genes that share disorders with KRT1: view

Publications for KRT1 Gene

  1. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. (PMID: 1380725) Rothnagel J.A. … Roop D.R. (Science 1992) 3 4 23
  2. A leucine-->proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. (PMID: 1381288) Chipev C.C. … Steinert P.M. (Cell 1992) 3 4 23
  3. The two size alleles of human keratin 1 are due to a deletion in the glycine-rich carboxyl-terminal V2 subdomain. (PMID: 1281859) Korge B.P. … Mischke D. (J. Invest. Dermatol. 1992) 3 4 23
  4. Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. (PMID: 7512983) Syder A.J. … Fuchs E. (J. Clin. Invest. 1994) 3 4 23
  5. A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. (PMID: 7528239) Kimonis V. … Compton J.G. (J. Invest. Dermatol. 1994) 3 4 23

Products for KRT1 Gene

Sources for KRT1 Gene

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