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    KRT78 keratin 78 [ Homo sapiens (human) ]

    Gene ID: 196374, updated on 28-Oct-2024

    Summary

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    Official Symbol
    KRT78provided by HGNC
    Official Full Name
    keratin 78provided by HGNC
    Primary source
    HGNC:HGNC:28926
    See related
    Ensembl:ENSG00000170423 MIM:611159; AllianceGenome:HGNC:28926
    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
    K5B; K78; Kb40; CK-78
    Summary
    This gene is a member of the type II keratin gene family and encodes a protein with an intermediate filament domain. Keratins are the major structural proteins in epithelial cells, forming a cytoplasmic network of 10 to 12 nm wide intermediate filaments and creating a scaffold that gives cells the ability to withstand mechanical and non-mechanical stresses. The genes of the type II keratin family are located as a gene cluster at 12p13.13. Four pseudogenes of this gene family have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward esophagus (RPKM 278.9) See more
    Orthologs
    all
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    Genomic context

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    See KRT78 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 (52837804..52848994, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52802261..52813482, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53231588..53242778, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak1735 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53206971-53207472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53212003-53212504 Neighboring gene keratin 4 Neighboring gene keratin 79 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:53230567-53231766 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 ribosomal protein L7 pseudogene 41 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53292699-53293198 Neighboring gene microRNA 9898 Neighboring gene keratin 8

    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. Polymorphic keratins in human epidermis. Mischke D, et al. J Invest Dermatol, 1987 Feb. PMID 2433356
    2. Localisation of keratin K78 in the basal layer and first suprabasal layers of stratified epithelia completes expression catalogue of type II keratins and provides new insights into sequential keratin expression. Langbein L, et al. Cell Tissue Res, 2016 Mar. PMID 26340985
    3. 'Hard' and 'soft' principles defining the structure, function and regulation of keratin intermediate filaments. Coulombe PA, et al. Curr Opin Cell Biol, 2002 Feb. PMID 11792552
    4. Genes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18. Hesse M, et al. J Cell Sci, 2001 Jul. PMID 11683385
    5. Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13.13. Rogers MA, et al. J Invest Dermatol, 2005 Mar. PMID 15737194

    See all (62) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. K78 is strongly expressed in the basal and parabasal cell layers with decreasing intensity in the lower suprabasal cells of keratinising and non-keratinising squamous epithelia and keratinocyte cultures.
      Title: Localisation of keratin K78 in the basal layer and first suprabasal layers of stratified epithelia completes expression catalogue of type II keratins and provides new insights into sequential keratin expression.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 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 cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular space HDA PubMed 
    is_active_in keratin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    keratin, type II cytoskeletal 78
    Names
    cytokeratin-78
    keratin 78, type II
    keratin-5b
    type-II keratin Kb40

    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_012297.1 RefSeqGene

      Range
      5001..16188
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001300814.1 → NP_001287743.1  keratin, type II cytoskeletal 78 isoform 2

      See identical proteins and their annotated locations for NP_001287743.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (2) has a distinct N-terminus, and is shorter than isoform 1.
      Source sequence(s)
      AC107016, BX647095
      Consensus CDS
      CCDS73473.1
      UniProtKB/Swiss-Prot
      Q8N1N4
      Related
      ENSP00000352479.4, ENST00000359499.8
      Conserved Domains (2) summary
      pfam00038
      Location:18 → 313
      Filament; Intermediate filament protein
      cl23720
      Location:218 → 282
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    2. NM_173352.4 → NP_775487.2  keratin, type II cytoskeletal 78 isoform 1

      See identical proteins and their annotated locations for NP_775487.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC107016, AK290901, BX647095
      Consensus CDS
      CCDS8840.1
      UniProtKB/Swiss-Prot
      A8K4D6, Q5HYM7, Q7RTT2, Q8N1N4
      Related
      ENSP00000306261.4, ENST00000304620.5
      Conserved Domains (3) summary
      pfam00038
      Location:110 → 423
      Filament; Intermediate filament protein
      pfam16208
      Location:43 → 107
      Keratin_2_head; Keratin type II head
      cl23720
      Location:328 → 392
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    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
      52837804..52848994 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538010.2 → XP_011536312.1  keratin, type II cytoskeletal 78 isoform X1

      Conserved Domains (3) summary
      pfam00038
      Location:110 → 391
      Filament; Intermediate filament protein
      pfam16208
      Location:43 → 107
      Keratin_2_head; Keratin type II head
      cl23720
      Location:296 → 360
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      52802261..52813482 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371363.1 → XP_054227338.1  keratin, type II cytoskeletal 78 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N1N4.2 GenPept UniProtKB/Swiss-Prot:Q8N1N4

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