KRT4 keratin 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRT4provided by HGNC
Official Full Name: keratin 4provided by HGNC
Primary source: HGNC:HGNC:6441
See related: Ensembl:ENSG00000170477 MIM:123940; AllianceGenome:HGNC:6441
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: K4; CK4; CK-4; CYK4; WSN1
Summary: The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in differentiated layers of the mucosal and esophageal epithelia with family member KRT13. Mutations in these genes have been associated with White Sponge Nevus, characterized by oral, esophageal, and anal leukoplakia. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward esophagus (RPKM 10134.3) See more
Orthologs: all
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Genomic context

Location:: 12q13.13

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (52806549..52814116, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (52771007..52778574, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (53200333..53207900, 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?

White Sponge Nevus Caused by Keratin 4 Gene Mutation: A Case Report.
Title: White Sponge Nevus Caused by Keratin 4 Gene Mutation: A Case Report.
Splice site m[6]A methylation prevents binding of DGCR8 to suppress KRT4 pre-mRNA splicing in oral squamous cell carcinoma.
Title: Splice site m(6)A methylation prevents binding of DGCR8 to suppress KRT4 pre-mRNA splicing in oral squamous cell carcinoma.
Negative regulation of miR-1288-3p/KRT4 axis through a circular RNA in oral cancer.
Title: Negative regulation of miR-1288-3p/KRT4 axis through a circular RNA in oral cancer.
CD24 and CK4 are upregulated by SIM2, and are predictive biomarkers for chemoradiotherapy and surgery in esophageal cancer.
Title: CD24 and CK4 are upregulated by SIM2, and are predictive biomarkers for chemoradiotherapy and surgery in esophageal cancer.
Study indicated the mutated KRT4 gene may play important roles in the pathogenesis of white sponge nevus.
Title: Keratin 4 regulates the development of human white sponge nevus.
The aim of the study was to determine whether KRT4 or KRT13 gene mutation was the molecular basis of oral white sponge nevus. Deletion in the KRT4 gene was found to be a common polymorphism reflecting a high allele frequency of 31.25% in the Turkish population
Title: Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus.
The crystal structure of recombinant Srr-1-K4BD(485-642) and its possible mode of interaction with K4 through docking studies, are reported.
Title: Structure of KRT4 binding domain of Srr-1 from Streptococcus agalactiae reveals a novel β-sheet complementation.
Identification of a mutation of the keratin 4 gene recurrent in a family affected by white sponge nevus.
Title: Mutation of keratin 4 gene causing white sponge nevus in a Japanese family.
The aberrant expression of K4 and K13 and concomitant up-regulation of the other keratins may be one of the causative factors for morphological alterations in the affected epithelium.
Title: Down-regulation of keratin 4 and keratin 13 expression in oral squamous cell carcinoma and epithelial dysplasia: a clue for histopathogenesis.
Fascin has a potential role as an early detection biomarker and CK4 as a tumor marker in esophageal squamous cell carcinoma.
Title: Fascin and CK4 as biomarkers for esophageal squamous cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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

Associated conditions

Description	Tests
White sponge nevus 1 MedGen: C4011926 OMIM: 193900 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of keratin 4 (KRT4) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S756 (e-PCR)
- UniSTS:148905

RH18084 (e-PCR)
- UniSTS:65457

RH18127 (e-PCR)
- UniSTS:13041

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 cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytoskeleton organization	NAS Non-traceable Author Statement more info	PubMed
involved_in epithelial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
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
involved_in negative regulation of epithelial cell proliferation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in intermediate filament	NAS Non-traceable Author Statement more info	PubMed
located_in intermediate filament cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
is_active_in keratin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in keratin filament	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: keratin, type II cytoskeletal 4

Names: cytokeratin 4; keratin 4, type II; type-II keratin Kb4

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_007380.1 RefSeqGene

Range

5436..13003

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002272.4 → NP_002263.3 keratin, type II cytoskeletal 4

Status: REVIEWED

Source sequence(s)

AC107016, AK299400, AW082111, DR423040

Consensus CDS

CCDS41787.2

UniProtKB/Swiss-Prot

B4DRS2, F8VS64, P19013, Q6GTR8, Q96LA7, Q9BTL1

UniProtKB/TrEMBL

B4DKJ0

Related

ENSP00000448220.1, ENST00000551956.2

Conserved Domains (2) summary

pfam00038
Location:136 → 449

Filament; Intermediate filament protein

pfam16208
Location:14 → 133

Keratin_2_head; Keratin type II head