KRT78 keratin 78 [Homo sapiens (human)] - Gene

Summary

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

Location:: 12q13.13

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (52837804..52848994, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (52802261..52813482, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (53231588..53242778, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.

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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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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 more info	PubMed
located_in extracellular space	HDA more info	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

NG_012297.1 RefSeqGene

Range

5001..16188

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

52837804..52848994 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)