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    KRT74 keratin 74 [ Homo sapiens (human) ]

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

    Summary

    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
    NEW
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    Genomic context

    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

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

    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)

    NEW Try the new Transcript table

    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_175053.4NP_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:139452
      Filament; Intermediate filament protein
      pfam04100
      Location:361424
      Vps53_N; Vps53-like, N-terminal
      pfam16208
      Location:15136
      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)