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    KRT40 keratin 40 [ Homo sapiens (human) ]

    Gene ID: 125115, updated on 6-Jun-2024

    Summary

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    Official Symbol
    KRT40provided by HGNC
    Official Full Name
    keratin 40provided by HGNC
    Primary source
    HGNC:HGNC:26707
    See related
    Ensembl:ENSG00000204889 MIM:616679; AllianceGenome:HGNC:26707
    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
    K40; KA36; CK-40
    Summary
    This gene encodes a member of the type I (acidic) keratin 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. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See KRT40 in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (40977715..40987135, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (41842176..41851600, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39133967..39143387, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985072 Neighboring gene keratin 23 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:39109689-39110888 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:39112787-39113986 Neighboring gene keratin 39 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:39136258-39136859 Neighboring gene keratin associated protein 3-3 Neighboring gene keratin associated protein 3-2

    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. Novel type I hair keratins K39 and K40 are the last to be expressed in differentiation of the hair: completion of the human hair keratin catalog. Langbein L, et al. J Invest Dermatol, 2007 Jun. PMID 17301834
    2. The human type I keratin gene family: characterization of new hair follicle specific members and evaluation of the chromosome 17q21.2 gene domain. Rogers MA, et al. Differentiation, 2004 Dec. PMID 15617563
    3. Comprehensive analysis of keratin gene clusters in humans and rodents. Hesse M, et al. Eur J Cell Biol, 2004 Feb. PMID 15085952
    4. New consensus nomenclature for mammalian keratins. Schweizer J, et al. J Cell Biol, 2006 Jul 17. PMID 16831889, Free PMC Article
    5. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. Chen S, et al. Nat Genet, 2018 Jul. PMID 29892012, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KRT39 and KRT40 expression patterns complete sequential expression of the 16 hair keratins in the human hair follicle
      Title: Novel type I hair keratins K39 and K40 are the last to be expressed in differentiation of the hair: completion of the human hair keratin catalog.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ36600

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    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
    		  
    Component Evidence Code Pubs
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in intermediate filament IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    keratin, type I cytoskeletal 40
    Names
    cytokeratin-40
    keratin 40, type I
    type I hair keratin KA36

    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_012412.1 RefSeqGene

      Range
      7810..14421
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001385217.1 → NP_001372146.1  keratin, type I cytoskeletal 40

      Status: REVIEWED

      Source sequence(s)
      AC007455
      Consensus CDS
      CCDS42320.1
      UniProtKB/Swiss-Prot
      Q6A162, Q6IFU5
      UniProtKB/TrEMBL
      B7ZM39
      Related
      ENSP00000506768.1, ENST00000684280.1
      Conserved Domains (1) summary
      pfam00038
      Location:88 → 399
      Filament; Intermediate filament protein

    2. NM_001389244.1 → NP_001376173.1  keratin, type I cytoskeletal 40

      Status: REVIEWED

      Source sequence(s)
      AC007455
      Consensus CDS
      CCDS42320.1
      UniProtKB/Swiss-Prot
      Q6A162, Q6IFU5
      UniProtKB/TrEMBL
      B7ZM39
      Related
      ENSP00000366984.4, ENST00000377755.9
      Conserved Domains (1) summary
      pfam00038
      Location:88 → 399
      Filament; Intermediate filament protein

    3. NM_182497.4 → NP_872303.2  keratin, type I cytoskeletal 40

      See identical proteins and their annotated locations for NP_872303.2

      Status: REVIEWED

      Source sequence(s)
      AC007455
      Consensus CDS
      CCDS42320.1
      UniProtKB/Swiss-Prot
      Q6A162, Q6IFU5
      UniProtKB/TrEMBL
      B7ZM39
      Related
      ENSP00000381500.2, ENST00000398486.2
      Conserved Domains (1) summary
      pfam00038
      Location:88 → 399
      Filament; Intermediate filament protein

    RNA

    1. NR_163403.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC007455

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      40977715..40987135 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524339.3 → XP_011522641.3  keratin, type I cytoskeletal 40 isoform X1

      UniProtKB/TrEMBL
      G3V1C2, Q8N9S8
      Related
      ENSP00000434458.1, ENST00000461923.5

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003871091.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      127110..136534 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329708.1 → XP_054185683.1  keratin, type I cytoskeletal 40 isoform X2

      UniProtKB/TrEMBL
      Q8N9S8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      41842176..41851600 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315075.1 → XP_054171050.1  keratin, type I cytoskeletal 40 isoform X3

      UniProtKB/TrEMBL
      Q8N9S8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6A162.2 GenPept UniProtKB/Swiss-Prot:Q6A162

    Gene LinkOut

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

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