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    KRT6A keratin 6A [ Homo sapiens (human) ]

    Gene ID: 3853, updated on 7-Apr-2024

    Summary

    Official Symbol
    KRT6Aprovided by HGNC
    Official Full Name
    keratin 6Aprovided by HGNC
    Primary source
    HGNC:HGNC:6443
    See related
    Ensembl:ENSG00000205420 MIM:148041; AllianceGenome:HGNC:6443
    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
    K6A; K6C; K6D; PC3; CK6A; CK6C; CK6D; CK-6C; CK-6E; KRT6C; KRT6D
    Summary
    The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been associated with pachyonychia congenita. In addition, peptides from the C-terminal region of the protein have antimicrobial activity against bacterial pathogens. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Oct 2014]
    Expression
    Restricted expression toward esophagus (RPKM 2985.3) See more
    Orthologs
    NEW
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    Genomic context

    See KRT6A in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (52487176..52493257, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52451772..52457856, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52880960..52887041, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 6B Neighboring gene keratin 6C 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

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of cytoskeleton NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables structural constituent of skin epidermis IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    keratin, type II cytoskeletal 6A
    Names
    cytokeratin 6A
    cytokeratin 6C
    cytokeratin 6D
    keratin 6A, , type II
    keratin 6A, type II
    keratin, epidermal type II, K6A
    type-II keratin Kb6

    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_008298.1 RefSeqGene

      Range
      5141..11222
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1294

    mRNA and Protein(s)

    1. NM_005554.4NP_005545.1  keratin, type II cytoskeletal 6A

      See identical proteins and their annotated locations for NP_005545.1

      Status: REVIEWED

      Source sequence(s)
      BC008807, DA451441
      Consensus CDS
      CCDS41786.1
      UniProtKB/Swiss-Prot
      A4QPC1, P02538, P48667, Q08AR4, Q6NT67, Q96CL4
      UniProtKB/TrEMBL
      A0A0S2Z428, A8K2I0
      Related
      ENSP00000369317.3, ENST00000330722.7
      Conserved Domains (2) summary
      pfam00038
      Location:162475
      Filament; Intermediate filament protein
      pfam16208
      Location:59159
      Keratin_2_head; Keratin type II head

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      52487176..52493257 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      52451772..52457856 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)