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    KRT71 keratin 71 [ Homo sapiens (human) ]

    Gene ID: 112802, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KRT71provided by HGNC
    Official Full Name
    keratin 71provided by HGNC
    Primary source
    HGNC:HGNC:28927
    See related
    Ensembl:ENSG00000139648 MIM:608245; AllianceGenome:HGNC:28927
    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
    HYPT13; K6IRS1; KRT6IRS; KRT6IRS1
    Summary
    Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[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 KRT71 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (52543909..52553145, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52508507..52517743, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52937693..52946929, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 6A 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 Neanderthal introgressed variant-containing enhancer experimental_29072 Neighboring gene keratin 74 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29100 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29110 Neighboring gene keratin 72

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. A novel epithelial keratin, hK6irs1, is expressed differentially in all layers of the inner root sheath, including specialized huxley cells (Flügelzellen) of the human hair follicle. Langbein L, et al. J Invest Dermatol, 2002 May. PMID 11982755
    2. A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. Fujimoto A, et al. J Invest Dermatol, 2012 Oct. PMID 22592156
    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. RNF208, an estrogen-inducible E3 ligase, targets soluble Vimentin to suppress metastasis in triple-negative breast cancers. Pang K, et al. Nat Commun, 2019 Dec 20. PMID 31862882, Free PMC Article
    5. Cross-Linking Mass Spectrometry Uncovers Interactions Between High-Density Lipoproteins and the SARS-CoV-2 Spike Glycoprotein. Burnap SA, et al. Mol Cell Proteomics, 2023 Aug. PMID 37343697, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Demonstration of the heterozygous mutation c.422T>G (p.Phe141Cys) within the helix initiation motif of the inner root sheath-specific keratin K71 (KRT71) gene in affected family members with autosomal dominant woolly hair/hypotrichosis.
      Title: A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis.
    2. A novel epithelial keratin, hK6irs1, is expressed differentially in all layers of the inner root sheath, including specialized huxley cells (Flugelzellen) of the human hair follicle.(HK6IRS1)
      Title: A novel epithelial keratin, hK6irs1, is expressed differentially in all layers of the inner root sheath, including specialized huxley cells (Flügelzellen) 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
    Hypotrichosis 13
    MedGen: C4014616 OMIM: 615896 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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC119390, MGC119391

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 hair follicle morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intermediate filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intermediate filament organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in keratinization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    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
    		  
    located_in keratin filament IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in keratin filament IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    keratin, type II cytoskeletal 71
    Names
    CK-71
    K71
    cytokeratin-71
    hK6irs
    hK6irs1
    keratin 6 irs
    keratin 71, type II
    type II inner root sheath-specific keratin-K6irs1
    type-II keratin Kb34

    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_012426.1 RefSeqGene

      Range
      5003..14239
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_033448.3 → NP_258259.1  keratin, type II cytoskeletal 71

      See identical proteins and their annotated locations for NP_258259.1

      Status: REVIEWED

      Source sequence(s)
      AJ308599, AK122795
      Consensus CDS
      CCDS8831.1
      UniProtKB/Swiss-Prot
      B3KVC1, Q3SY84, Q3SY85, Q96DU2
      Related
      ENSP00000267119.5, ENST00000267119.6
      Conserved Domains (3) summary
      pfam00038
      Location:129 → 442
      Filament; Intermediate filament protein
      pfam16208
      Location:16 → 126
      Keratin_2_head; Keratin type II head
      cl19885
      Location:198 → 423
      Sec6; Exocyst complex component Sec6

    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
      52543909..52553145 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018749.2 → XP_016874238.1  keratin, type II cytoskeletal 71 isoform X1

    2. XM_047428197.1 → XP_047284153.1  keratin, type II cytoskeletal 71 isoform X3

    3. XM_047428196.1 → XP_047284152.1  keratin, type II cytoskeletal 71 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      52508507..52517743 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370941.1 → XP_054226916.1  keratin, type II cytoskeletal 71 isoform X3

    2. XM_054370940.1 → XP_054226915.1  keratin, type II cytoskeletal 71 isoform X2

    3. XM_054370939.1 → XP_054226914.1  keratin, type II cytoskeletal 71 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3SY84.3 GenPept UniProtKB/Swiss-Prot:Q3SY84

    Gene LinkOut

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

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