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    KRT1 keratin 1 [ Homo sapiens (human) ]

    Gene ID: 3848, updated on 19-Jan-2017
    Official Symbol
    KRT1provided by HGNC
    Official Full Name
    keratin 1provided by HGNC
    Primary source
    HGNC:HGNC:6412
    See related
    Ensembl:ENSG00000167768 MIM:139350; Vega:OTTHUMG00000169749
    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; 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]
    Orthologs
    Location:
    12q13.13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (52674736..52680407, complement)
    105 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 keratin 77 Neighboring gene keratin 126 pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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    • Immune System, organism-specific biosystem (from REACTOME)
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    • Innate Immune System, organism-specific biosystem (from REACTOME)
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    • Keratinization, organism-specific biosystem (from REACTOME)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    carbohydrate binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    complement activation, lectin pathway IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cornification TAS
    Traceable Author Statement
    more info
     
    establishment of skin barrier IEA
    Inferred from Electronic Annotation
    more info
     
    fibrinolysis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    keratinization TAS
    Traceable Author Statement
    more info
     
    negative regulation of inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    regulation of angiogenesis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    response to oxidative stress NAS
    Non-traceable Author Statement
    more info
    PubMed 
    retina homeostasis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    Component Evidence Code Pubs
    blood microparticle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
     
    keratin filament IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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_008364.1 RefSeqGene

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

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_006112.3

      Status: REVIEWED

      Source sequence(s)
      AC055716, BC063697, DB112126
      Consensus CDS
      CCDS8836.1
      UniProtKB/Swiss-Prot
      P04264
      Related
      ENSP00000252244, OTTHUMP00000241991, ENST00000252244, OTTHUMT00000405706
      Conserved Domains (4) summary
      pfam00038
      Location:180492
      Filament; Intermediate filament protein
      pfam16208
      Location:145176
      Keratin_2_head; Keratin type II head
      pfam16210
      Location:493512
      Keratin_2_tail; Keratin type II cytoskeletal 1 tail
      cl01888
      Location:405465
      DUF883; Bacterial protein of unknown function (DUF883)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      53035321..53040992 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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