KRT80 keratin 80 [Homo sapiens (human)] - Gene

Summary

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

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Characters of KRT80 and its roles in neoplasms diseases.
Title: Characters of KRT80 and its roles in neoplasms diseases.
MiR-4268 suppresses gastric cancer genesis through inhibiting keratin 80.
Title: MiR-4268 suppresses gastric cancer genesis through inhibiting keratin 80.
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.
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.
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.

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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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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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

NG_012324.1 RefSeqGene

Range

4987..28005

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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