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KRT1 keratin 1 [ Homo sapiens (human) ]

Gene ID: 3848, updated on 3-Nov-2024

Summary

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Official Symbol
KRT1provided by HGNC
Official Full Name
keratin 1provided by HGNC
Primary source
HGNC:HGNC:6412
See related
Ensembl:ENSG00000167768 MIM:139350; AllianceGenome:HGNC:6412
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
K1; CK1; EHK; AEI2; EHK1; EPPK; KRT1A; NEPPK
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]
Expression
Restricted expression toward skin (RPKM 6502.3) See more
Orthologs
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Genomic context

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See KRT1 in Genome Data Viewer
Location:
12q13.13
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (52674736..52680407, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52639281..52644932, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53068520..53074191, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 128, pseudogene Neighboring gene keratin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53068684-53069184 Neighboring gene keratin 77 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29208 Neighboring gene keratin 126, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1. Terron-Kwiatkowski A, et al. J Invest Dermatol, 2002 Oct. PMID 12406346
  2. In vitro human keratinocyte migration rates are associated with SNPs in the KRT1 interval. Tao H, et al. PLoS One, 2007 Aug 1. PMID 17668073, Free PMC Article
  3. Annular epidermolytic ichthyosis with palmoplantar keratosis: a unique phenotype associated with interfamilial phenotypic heterogeneity. Liang B, et al. Eur J Dermatol, 2020 Jun 1. PMID 32666929
  4. Allele-specific KRT1 expression is a complex trait. Tao H, et al. PLoS Genet, 2006 Jun. PMID 16789827, Free PMC Article
  5. A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type. Richardson ES, et al. J Invest Dermatol, 2006 Jan. PMID 16417221

See all (249) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Human cytokeratin 1 plays a role in the interaction of Pteropine orthoreovirus with Hek293 cells but not HeLa cells.
    Title: Human cytokeratin 1 plays a role in the interaction of Pteropine orthoreovirus with Hek293 cells but not HeLa cells.
  2. Associations of serum keratin 1 with thyroid function and immunity in Graves' disease.
    Title: Associations of serum keratin 1 with thyroid function and immunity in Graves' disease.
  3. Two cases of KRT1 mutation-associated epidermolytic ichthyosis without typical epidermolytic hyperkeratosis in the neonatal skin lesions.
    Title: Two cases of KRT1 mutation-associated epidermolytic ichthyosis without typical epidermolytic hyperkeratosis in the neonatal skin lesions.
  4. The Adhesion G-Protein-Coupled Receptor GPR115/ADGRF4 Regulates Epidermal Differentiation and Associates with Cytoskeletal KRT1.
    Title: The Adhesion G-Protein-Coupled Receptor GPR115/ADGRF4 Regulates Epidermal Differentiation and Associates with Cytoskeletal KRT1.
  5. Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.
    Title: Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.
  6. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.
    Title: Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.
  7. Keratin 1 as a cell-surface receptor in cancer.
    Title: Keratin 1 as a cell-surface receptor in cancer.
  8. Effect of mutations on the hydrophobic interactions of the hierarchical molecular structure and mechanical properties of epithelial keratin 1/10.
    Title: Effect of mutations on the hydrophobic interactions of the hierarchical molecular structure and mechanical properties of epithelial keratin 1/10.
  9. Keratin 1 maintains the intestinal barrier in ulcerative colitis.
    Title: Keratin 1 maintains the intestinal barrier in ulcerative colitis.
  10. Epidermolytic ichthyosis in a child and systematized epidermolytic nevi in the mosaic parent associated with a KRT1 variant.
    Title: Epidermolytic ichthyosis in a child and systematized epidermolytic nevi in the mosaic parent associated with a KRT1 variant.
Submit: New GeneRIF Correction See all GeneRIFs (57)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Diffuse nonepidermolytic palmoplantar keratoderma
MedGen: C1833030 OMIM: 600962 GeneReviews: Not available
Compare labs
Epidermolytic hyperkeratosis 1
MedGen: C5781874 OMIM: 113800 GeneReviews: Not available
Compare labs
Ichthyosis hystrix of Curth-Macklin
MedGen: C1840296 OMIM: 146590 GeneReviews: Not available
Compare labs
Ichthyosis, annular epidermolytic, 2
MedGen: C5774264 OMIM: 620148 GeneReviews: Not available
not available
Keratosis palmoplantaris striata 3
MedGen: C2931123 OMIM: 607654 GeneReviews: Not available
Compare labs
Palmoplantar keratoderma, epidermolytic, 2
MedGen: C2936837 OMIM: 620411 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carbohydrate binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein heterodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables signaling receptor activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables structural constituent of skin epidermis IBA
Inferred from Biological aspect of Ancestor
more info
  
enables structural constituent of skin epidermis IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in complement activation, lectin pathway IPI
Inferred from Physical Interaction
more info
 PubMed 
involved_in establishment of skin barrier IEA
Inferred from Electronic Annotation
more info
  
involved_in fibrinolysis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in intermediate filament organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in keratinization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
  
involved_in peptide cross-linking IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein heterotetramerization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of angiogenesis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in response to oxidative stress NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in blood microparticle HDA PubMed 
located_in collagen-containing extracellular matrix HDA PubMed 
located_in cornified envelope IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoskeleton TAS
Traceable Author Statement
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in extracellular space HDA PubMed 
located_in ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
  
is_active_in keratin filament IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in keratin filament IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in membrane HDA PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus HDA PubMed 

General protein information

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Preferred Names
keratin, type II cytoskeletal 1
Names
67 kDa cytokeratin
CK-1
cytokeratin 1
epidermolytic hyperkeratosis 1
hair alpha protein
keratin 1, type II
type-II keratin Kb1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008364.2 RefSeqGene

    Range
    5001..10672
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006121.4 → NP_006112.3  keratin, type II cytoskeletal 1

    See identical proteins and their annotated locations for NP_006112.3

    Status: REVIEWED

    Source sequence(s)
    AC055716
    Consensus CDS
    CCDS8836.1
    UniProtKB/Swiss-Prot
    B2RA01, P04264, P85925, P86104, Q14720, Q6GSJ0, Q9H298
    UniProtKB/TrEMBL
    H6VRF8, H6VRG1, H6VRG2, H6VRG3
    Related
    ENSP00000252244.3, ENST00000252244.3
    Conserved Domains (4) summary
    pfam00038
    Location:180 → 492
    Filament; Intermediate filament protein
    pfam16208
    Location:145 → 176
    Keratin_2_head; Keratin type II head
    pfam16210
    Location:493 → 512
    Keratin_2_tail; Keratin type II cytoskeletal 1 tail
    cl01888
    Location:405 → 465
    DUF883; Bacterial protein of unknown function (DUF883)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    52674736..52680407 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    52639281..52644932 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P04264.6 GenPept UniProtKB/Swiss-Prot:P04264

Gene LinkOut

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