U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    KRT1 keratin 1 [ Homo sapiens (human) ]

    Gene ID: 3848, updated on 27-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 

    General protein information

    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)

    NEW Try the new Transcript table

    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_006121.4NP_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: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: 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)