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    KRT74 keratin 74 [ Homo sapiens (human) ]

    Gene ID: 121391, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KRT74provided by HGNC
    Official Full Name
    keratin 74provided by HGNC
    Primary source
    HGNC:HGNC:28929
    See related
    Ensembl:ENSG00000170484 MIM:608248; AllianceGenome:HGNC:28929
    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
    ADWH; ECTD7; HTSS2; HYPT3; KRT5C; K6IRS4; KRT6IRS4
    Summary
    Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This protein belongs to a family of keratins that are specifically expressed in the inner root sheath of hair follicles.[provided by RefSeq, Jun 2009]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See KRT74 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 (52565782..52573843, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52530378..52538439, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52959566..52967627, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52916085-52917050 Neighboring gene keratin 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52941449-52941950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52941951-52942450 Neighboring gene keratin 71 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29072 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29100 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29110 Neighboring gene keratin 72 Neighboring gene KRT73 antisense RNA 1 Neighboring gene keratin 73

    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 mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. Wasif N, et al. Hum Genet, 2011 Apr. PMID 21188418
    2. Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. Raykova D, et al. PLoS One, 2014. PMID 24714551, Free PMC Article
    3. K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath-specific type II epithelial keratins of the human hair follicle. Langbein L, et al. J Invest Dermatol, 2003 Apr. PMID 12648212
    4. Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Shimomura Y, et al. Am J Hum Genet, 2010 Apr 9. PMID 20346438, Free PMC Article
    5. Genes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18. Hesse M, et al. J Cell Sci, 2001 Jul. PMID 11683385

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These observations show for the first time that homozygosity for a KRT74 missense variant may be associated with autosomal recessive pure hair and nail ectodermal dysplasia.
      Title: Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.
    2. Data provide evidence implicating that the KRT74 gene in the pathogenesis of autosomal dominant hair loss disorders.
      Title: Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Single Nucleotide Polymorphisms in KRT74 gene is associated with woolly hair.
      Title: Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene variants associated with ischemic stroke: the cardiovascular health study.
    6. report on the cloning of two novel human type II keratin cDNAs, K6irs3 and K6irs4, which were specifically expressed in the inner root sheath of the hair follicle
      Title: K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath-specific type II epithelial keratins of the human hair follicle.
    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

    Associated conditions

    Description Tests
    Autosomal dominant wooly hair
    MedGen: C1860238 OMIM: 194300 GeneReviews: Not available
    		Compare labs
    Ectodermal dysplasia 7, hair/nail type
    MedGen: C3554117 OMIM: 614929 GeneReviews: Not available
    		Compare labs
    Hypotrichosis 3
    MedGen: C3151432 OMIM: 613981 GeneReviews: Not available
    		Compare labs

    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 keratin filament binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of skin epidermis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in intermediate filament cytoskeleton organization IDA
    Inferred from Direct Assay
    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
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    is_active_in keratin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    keratin, type II cytoskeletal 74
    Names
    CK-74
    K5C
    K74
    cytokeratin-74
    keratin 5c
    keratin 6 irs4
    keratin 74, type II
    type II inner root sheath-specific keratin-K6irs4
    type-II keratin Kb37

    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_012321.1 RefSeqGene

      Range
      4983..13044
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_175053.4 → NP_778223.2  keratin, type II cytoskeletal 74

      See identical proteins and their annotated locations for NP_778223.2

      Status: REVIEWED

      Source sequence(s)
      AC055715, AI092341, AJ508777
      Consensus CDS
      CCDS8832.1
      UniProtKB/Swiss-Prot
      B5MD61, Q7RTS7, Q86Y45
      UniProtKB/TrEMBL
      F8W1S1
      Related
      ENSP00000307240.2, ENST00000305620.3
      Conserved Domains (3) summary
      pfam00038
      Location:139 → 452
      Filament; Intermediate filament protein
      pfam04100
      Location:361 → 424
      Vps53_N; Vps53-like, N-terminal
      pfam16208
      Location:15 → 136
      Keratin_2_head; Keratin type II head

    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
      52565782..52573843 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      52530378..52538439 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7RTS7.2 GenPept UniProtKB/Swiss-Prot:Q7RTS7

    Gene LinkOut

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

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