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    KRT80 keratin 80 [ Homo sapiens (human) ]

    Gene ID: 144501, updated on 3-Nov-2024

    Summary

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    Official Symbol
    KRT80provided by HGNC
    Official Full Name
    keratin 80provided by HGNC
    Primary source
    HGNC:HGNC:27056
    See related
    Ensembl:ENSG00000167767 MIM:611161; AllianceGenome:HGNC:27056
    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
    KB20
    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's expression profile shows that it encodes a type II epithelial keratin, although structurally the encoded protein is more like a type II hair keratin. This protein is involved in cell differentiation, localizing near desmosomal plaques in earlier stages of differentiation but then dispersing throughout the cytoplasm in terminally differentiating cells. The type II keratins are clustered in a region of chromosome 12q13. Two transcript variants encoding two different fully functional isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
    Expression
    Biased expression in skin (RPKM 50.6), esophagus (RPKM 17.5) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KRT80 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 (52168996..52192014, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52132581..52155594, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52562780..52585798, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:52463395-52464110 Neighboring gene autophagy related 101 Neighboring gene uncharacterized LOC112268096 Neighboring gene small integral membrane protein 41 Neighboring gene olfactory receptor family 7 subfamily E member 47 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6395 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52524285-52524822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52537787-52538604 Neighboring gene Sharpr-MPRA regulatory region 3292 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52543503-52544317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4483 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_28931 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52577352-52578177 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52591988-52592488 Neighboring gene long intergenic non-protein coding RNA 2874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52607231-52607792 Neighboring gene long intergenic non-protein coding RNA 592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6396 Neighboring gene thiol methyltransferase 1A pseudogene 1 Neighboring gene keratin 7

    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 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. The facilitating effects of KRT80 on chemoresistance, lipogenesis, and invasion of esophageal cancer. Yun WJ, et al. Cancer Biol Ther, 2024 Dec 31. PMID 38241178, Free PMC Article
    2. Characters of KRT80 and its roles in neoplasms diseases. Wei XY, et al. Cancer Med, 2023 Jul. PMID 37211956, Free PMC Article
    3. KRT80 expression works as a biomarker and a target for differentiation in gastric cancer. Shi KH, et al. Histol Histopathol, 2024 Jan. PMID 37129345
    4. SREBP1 drives Keratin-80-dependent cytoskeletal changes and invasive behavior in endocrine-resistant ERα breast cancer. Perone Y, et al. Nat Commun, 2019 May 9. PMID 31073170, Free PMC Article
    5. Keratin 80 promotes migration and invasion of colorectal carcinoma by interacting with PRKDC via activating the AKT pathway. Li C, et al. Cell Death Dis, 2018 Sep 27. PMID 30262880, Free PMC Article

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The facilitating effects of KRT80 on chemoresistance, lipogenesis, and invasion of esophageal cancer.
      Title: The facilitating effects of KRT80 on chemoresistance, lipogenesis, and invasion of esophageal cancer.
    2. KRT80 expression works as a biomarker and a target for differentiation in gastric cancer.
      Title: KRT80 expression works as a biomarker and a target for differentiation in gastric cancer.
    3. LINC01485 contributes to colorectal cancer progression by targeting miR-383-5p/KRT80 axis.
      Title: LINC01485 contributes to colorectal cancer progression by targeting miR-383-5p/KRT80 axis.
    4. Characters of KRT80 and its roles in neoplasms diseases.
      Title: Characters of KRT80 and its roles in neoplasms diseases.
    5. MiR-4268 suppresses gastric cancer genesis through inhibiting keratin 80.
      Title: MiR-4268 suppresses gastric cancer genesis through inhibiting keratin 80.
    6. KRT80 was an independent prognostic biomarker for CRC and promoted CRC migration and invasion by interacting with PRKDC via activation of the AKT pathway.
      Title: Keratin 80 promotes migration and invasion of colorectal carcinoma by interacting with PRKDC via activating the AKT pathway.
    7. Study demonstrated that the type II keratin topological associating domain undergoes epigenetic reprogramming in aromatase inhibitors-resistant ER-alpha positive breast cancer cells, leading to KRT80 upregulation. KRT80 expression is driven by de novo enhancer activation by SREBP1. KRT80 levels correlate with stiffer tumors and associates with poor survival in ER-alpha positive breast cancer patients.
      Title: SREBP1 drives Keratin-80-dependent cytoskeletal changes and invasive behavior in endocrine-resistant ERα breast cancer.
    8. Alternative splice variants, K80 and K80.1 distribute differently in epithelia of hair and skin.
      Title: Against the rules: human keratin K80: two functional alternative splice variants, K80 and K80.1, with special cellular localization in a wide range of epithelia.
    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

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies a locus on TERT for mean telomere length in Han Chinese.
    EBI GWAS Catalog

    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

    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 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
    		  
    NOT located_in desmosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intermediate filament IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intermediate filament cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in keratin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in keratin filament NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    keratin, type II cytoskeletal 80
    Names
    CK-80
    K80
    cytokeratin-80
    keratin 80, type II
    keratin b20
    type II keratin
    type-II keratin Kb20

    NCBI Reference Sequences (RefSeq)

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    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_012324.1 RefSeqGene

      Range
      4987..28005
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001081492.2 → NP_001074961.1  keratin, type II cytoskeletal 80 isoform K80.1

      See identical proteins and their annotated locations for NP_001074961.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (K80.1, also known as b) has a distinct C-terminus and is shorter than isoform K80.
      Source sequence(s)
      AC021066, BC065180, BU151185
      Consensus CDS
      CCDS41784.1
      UniProtKB/Swiss-Prot
      Q6KB66
      Related
      ENSP00000369361.2, ENST00000313234.9
      Conserved Domains (2) summary
      pfam00038
      Location:82 → 393
      Filament; Intermediate filament protein
      pfam16208
      Location:21 → 78
      Keratin_2_head; Keratin type II head

    2. NM_182507.3 → NP_872313.2  keratin, type II cytoskeletal 80 isoform K80

      See identical proteins and their annotated locations for NP_872313.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (K80, also known as a).
      Source sequence(s)
      AC021066, AJ717743, BC065180
      Consensus CDS
      CCDS8821.2
      UniProtKB/Swiss-Prot
      Q6KB66, Q6P1A5, Q7Z3Q0
      Related
      ENSP00000378292.2, ENST00000394815.3
      Conserved Domains (2) summary
      pfam00038
      Location:82 → 393
      Filament; Intermediate filament protein
      pfam16208
      Location:21 → 78
      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
      52168996..52192014 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268676.4 → XP_005268733.1  keratin, type II cytoskeletal 80 isoform X1

      See identical proteins and their annotated locations for XP_005268733.1

      Related
      ENST00000466011.1
      Conserved Domains (1) summary
      pfam00038
      Location:28 → 428
      Filament; Intermediate filament protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      52132581..52155594 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371193.1 → XP_054227168.1  keratin, type II cytoskeletal 80 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6KB66.2 GenPept UniProtKB/Swiss-Prot:Q6KB66

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