KRT14 keratin 14 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRT14provided by HGNC
Official Full Name: keratin 14provided by HGNC
Primary source: HGNC:HGNC:6416
See related: Ensembl:ENSG00000186847 MIM:148066; AllianceGenome:HGNC:6416
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: K14; NFJ; CK14; EBS1; EBS3; EBS4; EBS1A; EBS1B; EBS1C; EBS1D
Summary: This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward skin (RPKM 3550.7) See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (41582279..41586895, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (42437869..42442485, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (39738531..39743147, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.
Title: Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.
EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.
Title: EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.
EZH2-H3K27me3 mediated KRT14 upregulation promotes TNBC peritoneal metastasis.
Title: EZH2-H3K27me3 mediated KRT14 upregulation promotes TNBC peritoneal metastasis.
Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants.
Title: Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants.
A mathematical model for the dependence of keratin aggregate formation on the quantity of mutant keratin expressed in EGFP-K14 R125P keratinocytes.
Title: A mathematical model for the dependence of keratin aggregate formation on the quantity of mutant keratin expressed in EGFP-K14 R125P keratinocytes.
Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.
Title: Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.
Molecular origin of the effects of mutation on the structure and mechanical properties of human epithelial keratin K5/K14.
Title: Molecular origin of the effects of mutation on the structure and mechanical properties of human epithelial keratin K5/K14.
Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population.
Title: Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population.
Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome.
Title: Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome.
Structure-Function Analyses of a Keratin Heterotypic Complex Identify Specific Keratin Regions Involved in Intermediate Filament Assembly.
Title: Structure-Function Analyses of a Keratin Heterotypic Complex Identify Specific Keratin Regions Involved in Intermediate Filament Assembly.

Submit: New GeneRIF Correction See all GeneRIFs (92)

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
Dermatopathia pigmentosa reticularis MedGen: C0406778 OMIM: 125595 GeneReviews: Not available	Compare labs
Epidermolysis bullosa simplex 1A, generalized severe MedGen: C0079295 OMIM: 131760 GeneReviews: Epidermolysis Bullosa Simplex	Compare labs
Epidermolysis bullosa simplex 1C, localized MedGen: C0080333 OMIM: 131800 GeneReviews: Epidermolysis Bullosa Simplex	Compare labs
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MedGen: C3715082 OMIM: 601001 GeneReviews: Epidermolysis Bullosa Simplex	Compare labs
Epidermolysis bullosa simplex, Koebner type MedGen: C5561924 OMIM: 131900 GeneReviews: Epidermolysis Bullosa Simplex	Compare labs
Naegeli-Franceschetti-Jadassohn syndrome MedGen: C0343111 OMIM: 161000 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G16019 (e-PCR)
- UniSTS:78871

SGC35551 (e-PCR)
- UniSTS:36657

GDB:437754 (e-PCR)
- UniSTS:157259

D17S933 (e-PCR), detects polymorphism
- UniSTS:41619

D17S800 (e-PCR)
- UniSTS:55194

D17S934 (e-PCR)
- UniSTS:68255

GDB:196353 (e-PCR)
- UniSTS:155843

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables keratin filament binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of cytoskeleton	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in epidermis development	TAS Traceable Author Statement more info	PubMed
involved_in epithelial cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in hair cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in intermediate filament bundle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intermediate filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in keratinocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in response to radiation	IEA Inferred from Electronic Annotation more info
involved_in stem cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in basal part of cell	IEA Inferred from Electronic Annotation more info
located_in cornified envelope	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in intermediate filament	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
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: keratin, type I cytoskeletal 14

Names: cytokeratin 14; keratin 14, type I

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_008624.2 RefSeqGene

Range

5000..9616

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000526.5 → NP_000517.3 keratin, type I cytoskeletal 14

Status: REVIEWED

Source sequence(s)

AC019349

Consensus CDS

CCDS11400.1

UniProtKB/Swiss-Prot

P02533, Q14715, Q53XY3, Q9BUE3, Q9UBN2, Q9UBN3, Q9UCY4

Related

ENSP00000167586.6, ENST00000167586.7

Conserved Domains (1) summary

pfam00038
Location:114 → 425

Filament; Intermediate filament protein