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    KRT10 keratin 10 [ Homo sapiens (human) ]

    Gene ID: 3858, updated on 9-Dec-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization. Pan Y, et al. J Dermatol Sci, 2020 Apr. PMID 32113649
    2. A novel substitution in keratin 10 in epidermolytic hyperkeratosis. Arin MJ, et al. J Invest Dermatol, 1999 Apr. PMID 10201536
    3. High-cell-density phorbol ester and retinoic acid upregulate involucrin and downregulate suprabasal keratin 10 in autocrine cultures of human epidermal keratinocytes. Poumay Y, et al. Mol Cell Biol Res Commun, 1999 Aug. PMID 10542138
    4. Disruption of the suprabasal keratin network by mutation M150T in the helix initiation motif of keratin 10 does not affect cornified cell envelope formation in human epidermis. Akiyama M, et al. Exp Dermatol, 2003 Oct. PMID 14705805
    5. Comparative analysis of alpha2,3/2,6-linked N-acetylneuraminic acid and cytokeratin expression in head and neck squamous cell carcinoma. Chovanec M, et al. Oncol Rep, 2004 Aug. PMID 15254692

    See all (218) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis.
      Title: Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis.
    2. KRT10 plays an important role in the release of viral genome from endosomes during H9N2 subtype AIV replication in HeLa cells.
      Title: KRT10 plays an important role in the release of viral genome from endosomes during H9N2 subtype AIV replication in HeLa cells.
    3. 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.
    4. Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain Generates Structural Alteration of the K1/K10 Dimer, Producing a Monolateral Palmar Epidermolytic Nevus.
      Title: Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain Generates Structural Alteration of the K1/K10 Dimer, Producing a Monolateral Palmar Epidermolytic Nevus.
    5. Recurrent KRT10 Variant in Ichthyosis with Confetti.
      Title: Recurrent KRT10 Variant in Ichthyosis with Confetti.
    6. Discovery of heterozygous KRT10 alterations in MAUIE cases underlines the importance of regular skin cancer screening in ichthyosis with confetti.
      Title: Discovery of heterozygous KRT10 alterations in MAUIE cases underlines the importance of regular skin cancer screening in ichthyosis with confetti.
    7. Ozone therapy promotes the differentiation of basal keratinocytes via increasing Tp63-mediated transcription of KRT10 to improve psoriasis.
      Title: Ozone therapy promotes the differentiation of basal keratinocytes via increasing Tp63-mediated transcription of KRT10 to improve psoriasis.
    8. Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization.
      Title: Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization.
    9. Mutations in KRT10 in epidermolytic acanthoma.
      Title: Mutations in KRT10 in epidermolytic acanthoma.
    10. Serum lipids, retinoic acid and phenol red differentially regulate expression of keratins K1, K10 and K2 in cultured keratinocytes.
      Title: Serum lipids, retinoic acid and phenol red differentially regulate expression of keratins K1, K10 and K2 in cultured keratinocytes.
    Submit: New GeneRIF Correction See all GeneRIFs (52)

    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
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 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

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    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_000421.5 → NP_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:145 → 454
      Filament; Intermediate filament protein

    2. NM_001379366.1 → NP_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:145 → 454
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P13645.6 GenPept UniProtKB/Swiss-Prot:P13645

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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