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    KRT8 keratin 8 [ Homo sapiens (human) ]

    Gene ID: 3856, updated on 8-Jul-2021

    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
    NEW
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    Genomic context

    See KRT8 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (52897191..52949860, complement)
    105.20201022 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 keratin 78 Neighboring gene ribosomal protein L7 pseudogene 41 Neighboring gene microRNA 9898 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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Familial cirrhosis
    MedGen: C1861556 OMIM: 215600 GeneReviews: Not available
    not available
    Genome-wide association study identifies new prostate cancer susceptibility loci.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 IEA
    Inferred from Electronic Annotation
    more info
     
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001256282.2NP_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: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_001256293.2NP_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
      P05787
      Related
      ENSP00000447402.1, ENST00000546897.5
      Conserved Domains (2) summary
      pfam00038
      Location:90401
      Filament; Intermediate filament protein
      pfam16208
      Location:6387
      Keratin_2_head; Keratin type II head
    3. NM_002273.4NP_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 (2) summary
      pfam00038
      Location:90401
      Filament; Intermediate filament protein
      pfam16208
      Location:6387
      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: Homo sapiens Updated Annotation Release 109.20210514

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