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KRT78 keratin 78 [ Homo sapiens (human) ]

Gene ID: 196374, updated on 23-Nov-2021

Summary

Official Symbol
KRT78provided by HGNC
Official Full Name
keratin 78provided by HGNC
Primary source
HGNC:HGNC:28926
See related
Ensembl:ENSG00000170423 MIM:611159
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
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Genomic context

See KRT78 in Genome Data Viewer
Location:
12q13.13
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (52837804..52848994, complement)
105.20201022 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 keratin 4 Neighboring gene keratin 79 Neighboring gene ribosomal protein L7 pseudogene 41 Neighboring gene microRNA 9898 Neighboring gene keratin 8

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?

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 

General protein information

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_001300814.1NP_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:18313
    Filament; Intermediate filament protein
    cl23720
    Location:218282
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  2. NM_173352.4NP_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
    Q8N1N4
    Related
    ENSP00000306261.4, ENST00000304620.5
    Conserved Domains (3) summary
    pfam00038
    Location:110423
    Filament; Intermediate filament protein
    pfam16208
    Location:43107
    Keratin_2_head; Keratin type II head
    cl23720
    Location:328392
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

mRNA and Protein(s)

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

    Conserved Domains (3) summary
    pfam00038
    Location:110391
    Filament; Intermediate filament protein
    pfam16208
    Location:43107
    Keratin_2_head; Keratin type II head
    cl23720
    Location:296360
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
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