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KRT80 keratin 80 [ Homo sapiens (human) ]

Gene ID: 144501, updated on 7-Jun-2020

Summary

Official Symbol
KRT80provided by HGNC
Official Full Name
keratin 80provided by HGNC
Primary source
HGNC:HGNC:27056
See related
Ensembl:ENSG00000167767 MIM:611161
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

Genomic context

See KRT80 in Genome Data Viewer
Location:
12q13.13
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (52168996..52192014, complement)
105 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 small integral membrane protein 41 Neighboring gene olfactory receptor family 7 subfamily E member 47 pseudogene Neighboring gene uncharacterized LOC105369771 Neighboring gene Sharpr-MPRA regulatory region 3292 Neighboring gene long intergenic non-protein coding RNA 2874 Neighboring gene long intergenic non-protein coding RNA 592 Neighboring gene methyltransferase like 7A pseudogene 1 Neighboring gene keratin 7

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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cornification TAS
Traceable Author Statement
more info
 
keratinization TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
 
keratin filament IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_001081492.2NP_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:82393
    Filament; Intermediate filament protein
    pfam16208
    Location:2178
    Keratin_2_head; Keratin type II head
  2. NM_182507.3NP_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
    Related
    ENSP00000378292.2, ENST00000394815.3
    Conserved Domains (2) summary
    pfam00038
    Location:82393
    Filament; Intermediate filament protein
    pfam16208
    Location:2178
    Keratin_2_head; Keratin type II head

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    52168996..52192014 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268676.3XP_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:28428
    Filament; Intermediate filament protein
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