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KRT80 keratin 80 [ Homo sapiens (human) ]

Gene ID: 144501, updated on 7-Apr-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
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Genomic context

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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 (52168996..52192014, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52132581..52155594, complement)
105.20220307 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
  • 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. MiR-4268 suppresses gastric cancer genesis through inhibiting keratin 80. Zhang F, et al. Cell Cycle, 2022 Oct. PMID 35748914, Free PMC Article
  2. 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
  3. 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
  4. A genome-wide association study identifies a locus on TERT for mean telomere length in Han Chinese. Liu Y, et al. PLoS One, 2014. PMID 24465473, Free PMC Article
  5. 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. Langbein L, et al. J Biol Chem, 2010 Nov 19. PMID 20843789, Free PMC Article

See all (41) 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 cytosol TAS
Traceable Author Statement
more info
  
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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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_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
    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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