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KRT8 keratin 8 [ Homo sapiens (human) ]

Gene ID: 3856, updated on 3-Mar-2019

Summary

Official Symbol
KRT8provided by HGNC
Official Full Name
keratin 8provided by HGNC
Primary source
HGNC:HGNC:6446
See related
Ensembl:ENSG00000170421 MIM:148060
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

Genomic context

See KRT8 in Genome Data Viewer
Location:
12q13.13
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (52897187..52949866, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53290971..53343650, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 78 Neighboring gene ribosomal protein L7 pseudogene 41 Neighboring gene KRT18 locus control region Neighboring gene keratin 18 Neighboring gene eukaryotic translation initiation factor 4B Neighboring gene uncharacterized LOC283335 Neighboring gene tensin 2

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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Familial cirrhosis
MedGen: C1861556 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Genome-wide association study identifies new prostate cancer susceptibility loci.
NHGRI GWA Catalog

Pathways from BioSystems

  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Keratinization, organism-specific biosystem (from REACTOME)
    Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...
  • Primary Focal Segmental Glomerulosclerosis FSGS, organism-specific biosystem (from WikiPathways)
    Primary Focal Segmental Glomerulosclerosis FSGS, organism-specific biosystemPrimary or idiopathic focal segmental glomerulosclerosis (FSGS) a cause of nephrotic syndrome in children and adolescents, as well as an important cause of end stage renal disease in adults. FSGS is ...
  • Signaling mediated by p38-alpha and p38-beta, organism-specific biosystem (from Pathway Interaction Database)
    Signaling mediated by p38-alpha and p38-beta, organism-specific biosystem
    Signaling mediated by p38-alpha and p38-beta

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 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
scaffold protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell differentiation involved in embryonic placenta development IEA
Inferred from Electronic Annotation
more info
 
cornification TAS
Traceable Author Statement
more info
 
extrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
hepatocyte apoptotic process IEA
Inferred from Electronic Annotation
more info
 
keratinization TAS
Traceable Author Statement
more info
 
response to hydrostatic pressure IEA
Inferred from Electronic Annotation
more info
 
response to other organism IEA
Inferred from Electronic Annotation
more info
 
sarcomere organization IEA
Inferred from Electronic Annotation
more info
 
tumor necrosis factor-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Z disc IEA
Inferred from Electronic Annotation
more info
 
apicolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
costamere IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
dystrophin-associated glycoprotein complex IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
intermediate filament IDA
Inferred from Direct Assay
more info
PubMed 
intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
 
keratin filament IEA
Inferred from Electronic Annotation
more info
 
nuclear matrix IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus HDA PubMed 
sarcolemma IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
keratin, type II cytoskeletal 8
Names
cytokeratin-8
keratin 8, type II
type-II keratin Kb8

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_008402.2 RefSeqGene

    Range
    49783..57680
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256282.1NP_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, CX166336
    Consensus CDS
    CCDS58234.1
    UniProtKB/TrEMBL
    Q7L4M3
    Related
    ENSP00000449404.1, ENST00000552150.5
    Conserved Domains (3) summary
    pfam00038
    Location:118429
    Filament; Intermediate filament protein
    pfam15003
    Location:315404
    HAUS2; HAUS augmin-like complex subunit 2
    pfam16208
    Location:91115
    Keratin_2_head; Keratin type II head
  2. NM_001256293.1NP_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, CX166336, DA051933
    Consensus CDS
    CCDS8841.1
    UniProtKB/Swiss-Prot
    P05787
    Related
    ENSP00000447402.1, ENST00000546897.5
    Conserved Domains (3) summary
    pfam00038
    Location:90401
    Filament; Intermediate filament protein
    pfam15003
    Location:287376
    HAUS2; HAUS augmin-like complex subunit 2
    pfam16208
    Location:6387
    Keratin_2_head; Keratin type II head
  3. NM_002273.3NP_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
    P05787
    Related
    ENSP00000293308.6, ENST00000293308.11
    Conserved Domains (3) summary
    pfam00038
    Location:90401
    Filament; Intermediate filament protein
    pfam15003
    Location:287376
    HAUS2; HAUS augmin-like complex subunit 2
    pfam16208
    Location:6387
    Keratin_2_head; Keratin type II head

RNA

  1. NR_045962.1 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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    52897187..52949866 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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