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KRT8 keratin 8 [ Homo sapiens (human) ]

Gene ID: 3856, updated on 3-Nov-2024

Summary

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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
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Genomic context

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See KRT8 in Genome Data Viewer
Location:
12q13.13
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (52897191..52949860, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52861778..52914419, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53290975..53343644, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:53230567-53231766 Neighboring gene keratin 78 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53263818-53264318 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53264319-53264819 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4485 Neighboring gene Sharpr-MPRA regulatory region 10657 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:53287796-53287974 Neighboring gene Sharpr-MPRA regulatory region 10212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53292699-53293198 Neighboring gene ribosomal protein L7 pseudogene 41 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53295217-53296061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4486 Neighboring gene microRNA 9898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53311823-53312324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53312325-53312824 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53337539-53338133 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:53339323-53339918 Neighboring gene Sharpr-MPRA regulatory region 15494 Neighboring gene KRT18 locus control region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53358683-53359326 Neighboring gene keratin 18 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53365007-53365934 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53365935-53366860 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:53397033-53397195 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53399611-53400354 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53400355-53401098 Neighboring gene eukaryotic translation initiation factor 4B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53441165-53442009 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53442010-53442853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6402 Neighboring gene TNS2 antisense RNA 1 Neighboring gene tensin 2

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. Association of keratin 8 gene mutation with chronic pancreatitis. Cavestro GM, et al. Dig Liver Dis, 2003 Jun. PMID 12868678
  2. Overexpression of cell surface cytokeratin 8 in multidrug-resistant MCF-7/MX cells enhances cell adhesion to the extracellular matrix. Liu F, et al. Neoplasia, 2008 Nov. PMID 18953437, Free PMC Article
  3. Down-regulated CK8 expression in human intervertebral disc degeneration. Sun Z, et al. Int J Med Sci, 2013. PMID 23801880, Free PMC Article
  4. Cytokeratin 8 is increased in hepatitis C virus cells and its ectopic expression induces apoptosis of SMMC7721 cells. Sun MZ, et al. World J Gastroenterol, 2013 Oct 7. PMID 24115814, Free PMC Article
  5. Cytokeratin 8-MHC class I interactions: a potential novel immune escape phenotype by a lymph node metastatic carcinoma cell line. Wu MS, et al. Biochem Biophys Res Commun, 2013 Nov 22. PMID 24183726

See all (313) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NAT10 Promotes Prostate Cancer Growth and Metastasis by Acetylating mRNAs of HMGA1 and KRT8.
    Title: NAT10 Promotes Prostate Cancer Growth and Metastasis by Acetylating mRNAs of HMGA1 and KRT8.
  2. 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.
  3. Keratin 8 is a scaffolding and regulatory protein of ERAD complexes.
    Title: Keratin 8 is a scaffolding and regulatory protein of ERAD complexes.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (125)

Phenotypes

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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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 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 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 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

  1. NG_008402.2 RefSeqGene

    Range
    49791..57676
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  1. 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

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
    52897191..52949860 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    52861778..52914419 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372022.1 → XP_054227997.1  keratin, type II cytoskeletal 8 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P05787.7 GenPept UniProtKB/Swiss-Prot:P05787

Gene LinkOut

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