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    KRT10 keratin 10 [ Homo sapiens (human) ]

    Gene ID: 3858, updated on 10-Dec-2024

    Summary

    Official Symbol
    KRT10provided by HGNC
    Official Full Name
    keratin 10provided by HGNC
    Primary source
    HGNC:HGNC:6413
    See related
    Ensembl:ENSG00000186395 MIM:148080; AllianceGenome:HGNC:6413
    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
    BIE; EHK; IHL; K10; KPP; BCIE; CK10; EHK2; EHK2A; EHK2B
    Summary
    This gene encodes a member of the type I (acidic) cytokeratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. Mutations in this gene are associated with epidermolytic hyperkeratosis. This gene is located within a cluster of keratin family members on chromosome 17q21. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward skin (RPKM 7171.9) See more
    Orthologs
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    Genomic context

    See KRT10 in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (40818117..40822614, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (41682437..41686934, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (38974369..38978866, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:38954190-38955389 Neighboring gene uncharacterized LOC105371776 Neighboring gene keratin 28 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:38975907-38977106 Neighboring gene KRT10 antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:38983418-38984617 Neighboring gene uncharacterized LOC105371777 Neighboring gene Sharpr-MPRA regulatory region 3631 Neighboring gene keratin 12 Neighboring gene keratin 20

    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
    Congenital reticular ichthyosiform erythroderma
    MedGen: C3665704 OMIM: 609165 GeneReviews: Not available
    not available
    Epidermolytic hyperkeratosis 2A, autosomal dominant
    MedGen: C5882671 OMIM: 620150 GeneReviews: Not available
    not available
    Epidermolytic hyperkeratosis 2B, autosomal recessive
    MedGen: C5882753 OMIM: 620707 GeneReviews: Not available
    not available
    Ichthyosis hystrix gravior
    MedGen: C0432311 OMIM: 146600 GeneReviews: Not available
    not available
    Ichthyosis, annular epidermolytic 1
    MedGen: CN324065 OMIM: 607602 GeneReviews: Not available
    not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IDA
    Inferred from Direct Assay
    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 
    enables structural constituent of skin epidermis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in epidermis development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in epithelial cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intermediate filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in keratinocyte differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in peptide cross-linking IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of epidermis development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein heterotetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cornified envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular space HDA PubMed 
    located_in intermediate filament NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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 nucleus HDA PubMed 

    General protein information

    Preferred Names
    keratin, type I cytoskeletal 10
    Names
    CK-10
    cytokeratin 10
    keratin 10, type I

    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_008405.2 RefSeqGene

      Range
      5000..9497
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000421.5NP_000412.4  keratin, type I cytoskeletal 10 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC090283
      Consensus CDS
      CCDS11377.1
      UniProtKB/Swiss-Prot
      P13645, Q14664, Q8N175
      Related
      ENSP00000269576.5, ENST00000269576.6
      Conserved Domains (1) summary
      pfam00038
      Location:145454
      Filament; Intermediate filament protein
    2. NM_001379366.1NP_001366295.1  keratin, type I cytoskeletal 10 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC090283
      Consensus CDS
      CCDS92302.1
      UniProtKB/TrEMBL
      A0A1B0GVI3
      Related
      ENSP00000490524.2, ENST00000635956.2
      Conserved Domains (1) summary
      pfam00038
      Location:145454
      Filament; Intermediate filament protein

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      40818117..40822614 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      41682437..41686934 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)