KRT8 keratin 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRT8provided by HGNC
Official Full Name: keratin 8provided by HGNC
Primary source: HGNC:HGNC:6446
See related: Ensembl:ENSG00000170421 MIM:148060; AllianceGenome:HGNC:6446
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: K8; KO; CK8; CK-8; CYK8; K2C8; CARD2
Summary: This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
Expression: Biased expression in colon (RPKM 581.2), small intestine (RPKM 486.1) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.13

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (52897191..52949860, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (52861778..52914419, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (53290975..53343644, 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome.
Title: A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome.
Keratin 8 is a scaffolding and regulatory protein of ERAD complexes.
Title: Keratin 8 is a scaffolding and regulatory protein of ERAD complexes.
Keratin 8 Is an Inflammation-Induced and Prognosis-Related Marker for Pancreatic Adenocarcinoma.
Title: Keratin 8 Is an Inflammation-Induced and Prognosis-Related Marker for Pancreatic Adenocarcinoma.
Autophagosome-lysosome fusion is facilitated by plectin-stabilized actin and keratin 8 during macroautophagic process.
Title: Autophagosome-lysosome fusion is facilitated by plectin-stabilized actin and keratin 8 during macroautophagic process.
Association of Keratin 8 Level in Aqueous Humor With Outcomes of Intravitreal Ranibizumab Treatment for Neovascular Age-Related Macular Degeneration.
Title: Association of Keratin 8 Level in Aqueous Humor With Outcomes of Intravitreal Ranibizumab Treatment for Neovascular Age-Related Macular Degeneration.
The Role of Keratin-8 and Keratin-18 Polymorphisms and Protein Levels in the Occurrence and Progression of Vocal Leukoplakia.
Title: The Role of Keratin-8 and Keratin-18 Polymorphisms and Protein Levels in the Occurrence and Progression of Vocal Leukoplakia.
Analysis of zebrafish periderm enhancers facilitates identification of a regulatory variant near human KRT8/18.
Title: Analysis of zebrafish periderm enhancers facilitates identification of a regulatory variant near human KRT8/18.
KRT8 phosphorylation regulates the epithelial-mesenchymal transition in retinal pigment epithelial cells through autophagy modulation.
Title: KRT8 phosphorylation regulates the epithelial-mesenchymal transition in retinal pigment epithelial cells through autophagy modulation.
A multi-scale integrated analysis identifies KRT8 as a pan-cancer early biomarker.
Title: A multi-scale integrated analysis identifies KRT8 as a pan-cancer early biomarker.
KRT8 and KRT19, associated with EMT, are hypomethylated and overexpressed in lung adenocarcinoma and link to unfavorable prognosis.
Title: KRT8 and KRT19, associated with EMT, are hypomethylated and overexpressed in lung adenocarcinoma and link to unfavorable prognosis.

Submit: New GeneRIF Correction See all GeneRIFs (124)

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
Genome-wide association study identifies new prostate cancer susceptibility loci. 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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Markers

RH79790 (e-PCR)
- UniSTS:88364

RH47175 (e-PCR)
- UniSTS:57916

KRT8_7288 (e-PCR)
- UniSTS:466264

GDB:376877 (e-PCR)
- UniSTS:157067

D12S765 (e-PCR)
- UniSTS:148916

GDB:277179 (e-PCR)
- UniSTS:156366

D17S1697 (e-PCR)
- UniSTS:153850

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables scaffold protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation involved in embryonic placenta development	IEA Inferred from Electronic Annotation more info
involved_in extrinsic apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in hepatocyte apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in response to hydrostatic pressure	IEA Inferred from Electronic Annotation more info
involved_in response to other organism	IEA Inferred from Electronic Annotation more info
involved_in sarcomere organization	IEA Inferred from Electronic Annotation more info
involved_in tumor necrosis factor-mediated signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Z disc	IEA Inferred from Electronic Annotation more info
located_in apicolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cell-cell junction	IEA Inferred from Electronic Annotation more info
located_in costamere	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
part_of dystrophin-associated glycoprotein complex	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA 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
located_in keratin filament	IPI Inferred from Physical Interaction more info	PubMed
located_in nuclear matrix	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleus	HDA more info	PubMed
located_in sarcolemma	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: keratin, type II cytoskeletal 8

Names: cytokeratin-8; keratin 8, type II; type-II keratin Kb8

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_008402.2 RefSeqGene

Range

49791..57676

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001256282.2 → NP_001243211.1 keratin, type II cytoskeletal 8 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AK310257, BC008200

Consensus CDS

CCDS58234.1

UniProtKB/TrEMBL

Q7L4M3

Related

ENSP00000449404.1, ENST00000552150.5

Conserved Domains (3) summary

pfam00038
Location:118 → 429

Filament; Intermediate filament protein

pfam15003
Location:315 → 404

HAUS2; HAUS augmin-like complex subunit 2

pfam16208
Location:91 → 115

Keratin_2_head; Keratin type II head
NM_001256293.2 → NP_001243222.1 keratin, type II cytoskeletal 8 isoform 2

See identical proteins and their annotated locations for NP_001243222.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has an alternate 5' exon, which results in a downstream AUG start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform 2.

Source sequence(s)

AK290938, AK310257, BC063513, DA051933

Consensus CDS

CCDS8841.1

UniProtKB/Swiss-Prot

A8K4H3, B0AZN5, F8VXB4, P05787, Q14099, Q14716, Q14717, Q53GJ0, Q6DHW5, Q6GMY0, Q6P4C7, Q96J60

Related

ENSP00000447402.1, ENST00000546897.5

Conserved Domains (2) summary

pfam00038
Location:90 → 401

Filament; Intermediate filament protein

pfam16208
Location:63 → 87

Keratin_2_head; Keratin type II head
NM_002273.4 → NP_002264.1 keratin, type II cytoskeletal 8 isoform 2

See identical proteins and their annotated locations for NP_002264.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation in a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform 2.

Source sequence(s)

BC075839, BE300986, DA825311

Consensus CDS

CCDS8841.1

UniProtKB/Swiss-Prot

A8K4H3, B0AZN5, F8VXB4, P05787, Q14099, Q14716, Q14717, Q53GJ0, Q6DHW5, Q6GMY0, Q6P4C7, Q96J60

Related

ENSP00000509398.1, ENST00000692008.1

Conserved Domains (2) summary

pfam00038
Location:90 → 401

Filament; Intermediate filament protein

pfam16208
Location:63 → 87

Keratin_2_head; Keratin type II head

RNA

NR_045962.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) has an alternate 5' exon, compared to variant 1, that creates an upstream ORF with a strong Kozak sequence. The upstream ORF is predicted to inhibit translation of the downstream ORF and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK315826, BC011373, CX166336, DA051933