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Aliases for KRT1 Gene

Aliases for KRT1 Gene

  • Keratin 1 2 3 5
  • Epidermolytic Hyperkeratosis 1 2 3
  • Type-II Keratin Kb1 3 4
  • Keratin 1, Type II 2 3
  • Hair Alpha Protein 3 4
  • 67 KDa Cytokeratin 3 4
  • CK-1 3 4
  • K1 3 4
  • Keratin, Type II Cytoskeletal 1 3
  • Cytokeratin 1 3
  • Cytokeratin-1 4
  • Keratin-1 4
  • KRT1A 3
  • NEPPK 3
  • EHK1 3
  • EPPK 3
  • KRTA 4
  • CK1 3
  • EHK 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) is a Protein Coding gene. Diseases associated with KRT1 include Palmoplantar Keratoderma, Nonepidermolytic and Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis. Among its related pathways are Innate Immune System and Regulation of Wnt-mediated beta catenin signaling and target gene transcription. GO annotations related to this gene include receptor activity and carbohydrate binding. An important paralog of this gene is KRT2.

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 C kinase 1 (RACK1). In complex with C1QBP is a high affinity receptor for kininogen-1/HMWK.

Gene Wiki entry for KRT1 Gene

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

Genomics for KRT1 Gene

Regulatory Elements for KRT1 Gene

Enhancers for KRT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G052859 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.4 -180.0 -180013 1.8 NFIB CEBPG BMI1 RFX5 CTBP1 KDM5B FOS RFX1 ZNF687 MAZ KRT79 KRT4 KRT76 KRT1 KRT2 KRT83 KRT71 KRT6A RARG KRT5
GH12G052579 1.3 FANTOM5 ENCODE 11.5 +99.0 98962 3.7 HDGF PKNOX1 ARID4B SIN3A ZNF2 ZBTB7B TCF12 ZNF207 FOS DEK KRT72 KRT1 KRT71 KRT78 KRT79 KRT2 KRT84 KRT4 KRT6C KRT76
GH12G052644 1.3 Ensembl ENCODE dbSUPER 11.3 +34.5 34478 3.1 HDGF CREB3L1 ARNT YBX1 RAD21 ZNF121 ZNF766 GATA2 EGR2 PAF1 KRT1 KRT77 KRT79 KRT76 KRT4 KRT84 ENSG00000257700 KRT2 KRT128P
GH12G052614 0.9 ENCODE dbSUPER 10.9 +64.8 64822 1.2 HDAC1 SMAD5 ZNF394 MNT ZNF121 ZFHX2 POLR2A KLF9 KDM1A PRDM4 KRT1 KRT2 KRT71 KRT78 KRT84 GC12P052616 KRT72
GH12G052583 0.7 ENCODE 11.5 +97.0 97009 0.1 SCRT1 CTCF TRIM22 REST ZBTB8A ZNF2 RAD21 NR2F2 MBD2 GATA3 KRT1 KRT78 KRT84 KRT2 KRT73 KRT74 KRT73-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KRT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRT1 Gene

Chromosome:
12
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

Genes around KRT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 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 (PubMed:16923132).
    Miscellaneous:
    • There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).

    Three dimensional structures from OCA and Proteopedia for KRT1 Gene

neXtProt entry for KRT1 Gene

Post-translational modifications for KRT1 Gene

  • Undergoes deimination of some arginine residues (citrullination).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT1 Gene

Domains & Families for KRT1 Gene

Gene Families for KRT1 Gene

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 :
  • Belongs to the intermediate filament family.
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 C kinase 1 (RACK1). 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
GO:0030280 structural constituent of epidermis IDA 7543090
genes like me logo Genes that share ontologies with KRT1: view
genes like me logo Genes that share phenotypes with KRT1: view

Human Phenotype Ontology for KRT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KRT1 Gene

MGI Knock Outs for KRT1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KRT1

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KRT1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
mitochondrion 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KRT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope IDA 7543090
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 22664934
GO:0005634 nucleus IDA 21630459
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with KRT1: view

Pathways & Interactions for KRT1 Gene

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

Pathways by source for KRT1 Gene

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:0018149 peptide cross-linking IDA 7543090
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRT1: view

No data available for SIGNOR curated interactions for KRT1 Gene

Drugs & Compounds for KRT1 Gene

(20) Drugs for KRT1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(13) Additional Compounds for KRT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KRT1: view

Transcripts for KRT1 Gene

mRNA/cDNA for KRT1 Gene

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

Unigene Clusters for KRT1 Gene

Keratin 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KRT1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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) (x23.8) and Skin - Sun Exposed (Lower leg) (x23.7).

Protein differential expression in normal tissues from HIPED for KRT1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (10.0) and Pancreatic juice (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KRT1 Gene



Protein tissue co-expression partners for KRT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KRT1 Gene:

KRT1

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.

Evidence on tissue expression from TISSUES for KRT1 Gene

  • Skin(5)
  • Blood(4.4)
  • Liver(4.3)
  • Heart(2.6)
  • Eye(2.4)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • skeletal muscle
  • skeleton
Organs:
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with KRT1: view

Primer 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 34
  • 98.75 (n)
dog
(Canis familiaris)
Mammalia KRT1 34 35
  • 85.32 (n)
cow
(Bos Taurus)
Mammalia KRT1 34 35
  • 84.14 (n)
mouse
(Mus musculus)
Mammalia Krt1 34 16 35
  • 81.43 (n)
rat
(Rattus norvegicus)
Mammalia Krt1 34
  • 79.64 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 59 (a)
ManyToMany
Species where no ortholog for KRT1 was found in the sources mined by GeneCards:
  • 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

Variants for KRT1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for KRT1 Gene

K2C1_HUMAN-P04264
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
rs267607430 untested, Epidermolytic hyperkeratosis (EHK) [MIM:113800] 52,676,296(-) GACCC(C/T)CCTGG reference, missense
rs56914602 untested, Epidermolytic hyperkeratosis (EHK) [MIM:113800] 52,676,293(-) CCTCC(C/G/T)GGAGG reference, missense
rs57695159 Pathogenic, Epidermolytic hyperkeratosis (EHK) [MIM:113800] 52,679,867(-) GAGCC(C/T)TCTTC reference, missense
rs57837128 Pathogenic, Epidermolytic hyperkeratosis (EHK) [MIM:113800], Ichthyosis annular epidermolytic (AEI) [MIM:607602] 52,676,314(-) GGAGA(C/T)TGCCA reference, missense
rs57959072 Pathogenic, Epidermolytic hyperkeratosis (EHK) [MIM:113800], Epidermolytic hyperkeratosis (EHK) [MIM:113800] 52,679,885(-) AGAAG(A/G/T)CACTA reference, missense

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

Variant ID Type Subtype PubMed ID
nsv428281 CNV gain 18775914
nsv832415 CNV loss 17160897

Variation tolerance for KRT1 Gene

Residual Variation Intolerance Score: 30.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.07; 95.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRT1 Gene

Human Gene Mutation Database (HGMD)
KRT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT1

Disorders for KRT1 Gene

MalaCards: The human disease database

(37) MalaCards diseases for KRT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
palmoplantar keratoderma, nonepidermolytic
  • nonepidermolytic palmoplantar keratoderma
ichthyosis, cyclic, with epidermolytic hyperkeratosis
  • annular epidermolytic ichthyosis
keratosis palmoplantaris striata iii
  • keratosis palmoplantaris striata 3
epidermolytic hyperkeratosis
  • bullous congenital ichthyosiform erythroderma
ichthyosis histrix, curth-macklin type
  • ichthyosis hystrix, curth-macklin type
- elite association - COSMIC cancer census association via MalaCards
Search KRT1 in MalaCards View complete list of genes associated with diseases

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 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.
  • 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.
  • 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.

Relevant External Links for KRT1

Genetic Association Database (GAD)
KRT1
Human Genome Epidemiology (HuGE) Navigator
KRT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRT1
genes like me logo Genes that share disorders with KRT1: view

No data available for Genatlas for KRT1 Gene

Publications for KRT1 Gene

  1. Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. (PMID: 11982762) Whittock N.V. … McGrath J.A. (J. Invest. Dermatol. 2002) 3 4 22 64
  2. Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1. (PMID: 12406346) Terron-Kwiatkowski A. … Irvine A.D. (J. Invest. Dermatol. 2002) 3 4 22 64
  3. Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds. (PMID: 11286630) Hatsell S.J. … Kelsell D.P. (J. Invest. Dermatol. 2001) 3 4 22 64
  4. New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. (PMID: 11531804) Whittock N.V. … McGrath J.A. (Br. J. Dermatol. 2001) 3 4 22 64
  5. Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis. (PMID: 10688370) Arin M.J. … Roop D.R. (Exp. Dermatol. 2000) 3 4 22 64

Products for KRT1 Gene

Sources for KRT1 Gene

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