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KRT78 keratin 78 [ Homo sapiens (human) ]

Gene ID: 196374, updated on 27-Nov-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
  • 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. 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
  2. '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
  3. Polymorphic keratins in human epidermis. Mischke D, et al. J Invest Dermatol, 1987 Feb. PMID 2433356
  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 (63) 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)

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

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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