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    KRT1 keratin 1 [ Homo sapiens (human) ]

    Gene ID: 3848, updated on 14-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
    mouse all
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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. Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. Whittock NV, et al. J Invest Dermatol, 2002 May. PMID 11982762
    2. Hsp74, a potential bladder cancer marker, has direct interaction with keratin 1. Chen L, et al. J Immunol Res, 2014. PMID 25050384, Free PMC Article
    3. An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis. Arin MJ, et al. Exp Dermatol, 1999 Apr. PMID 10232403
    4. Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis. Arin MJ, et al. Exp Dermatol, 2000 Feb. PMID 10688370
    5. Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene. Cserhalmi-Friedman PB, et al. Clin Exp Dermatol, 2000 May. PMID 10844506

    See all (250) 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
    		not available
    Epidermolytic hyperkeratosis 1
    MedGen: C5781874 OMIM: 113800 GeneReviews: Not available
    		not available
    Ichthyosis hystrix of Curth-Macklin
    MedGen: C1840296 OMIM: 146590 GeneReviews: Not available
    		not available
    Ichthyosis, annular epidermolytic, 2
    MedGen: C5774264 OMIM: 620148 GeneReviews: Not available
    		not available
    Keratosis palmoplantaris striata 3
    MedGen: C2931123 OMIM: 607654 GeneReviews: Not available
    		not available
    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)

    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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