KRT16 keratin 16 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRT16provided by HGNC
Official Full Name: keratin 16provided by HGNC
Primary source: HGNC:HGNC:6423
See related: Ensembl:ENSG00000186832 MIM:148067; AllianceGenome:HGNC:6423
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: K16; PC1; CK16; K1CP; NEPPK; FNEPPK; KRT16A
Summary: The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. [provided by RefSeq, Jul 2008]
Expression: Biased expression in skin (RPKM 209.9) and esophagus (RPKM 198.8) 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 (41609778..41612767, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (42465231..42468220, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (39766030..39769019, complement)

Chromosome 17 - NC_000017.11 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 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?

GLI Transcriptional Targets S100A7 and KRT16 Show Upregulated Expression Patterns in Epidermis Overlying the Tumor Mass in Melanoma Samples.
Title: GLI Transcriptional Targets S100A7 and KRT16 Show Upregulated Expression Patterns in Epidermis Overlying the Tumor Mass in Melanoma Samples.
Targeting the KRT16-vimentin axis for metastasis in lung cancer.
Title: Targeting the KRT16-vimentin axis for metastasis in lung cancer.
A novel KRT16 frameshift variant causing pachyonychia congenita by re-initiation of translation.
Title: A novel KRT16 frameshift variant causing pachyonychia congenita by re-initiation of translation.
BarH-like homeobox 2 represses the transcription of keratin 16 and affects Ras signaling pathway to suppress nasopharyngeal carcinoma progression.
Title: BarH-like homeobox 2 represses the transcription of keratin 16 and affects Ras signaling pathway to suppress nasopharyngeal carcinoma progression.
The mutation found in this study is the first report in China. So far, 25 mutations in KRT16 have been reportedly associated with Pachyonychia congenita. Twenty-one mutations are located on exon 1, and four mutations on exon 6.
Title: A KRT16 mutation in the first Chinese pedigree with Pachyonychia congenita and review of the literatures.
TFAP2A induced KRT16 overexpression promotes tumorigenicity in lung adenocarcinoma via epithelial-mesenchymal transition
Title: TFAP2A Induced KRT16 as an Oncogene in Lung Adenocarcinoma via EMT.
Silencing KRT16 inhibits keratinocyte proliferation and VEGF secretion in psoriasis via inhibition of ERK signaling pathway.
Title: Silencing KRT16 inhibits keratinocyte proliferation and VEGF secretion in psoriasis via inhibition of ERK signaling pathway.
Targeting a novel miR-365-3p/EHF/KRT16/beta5-integrin/c-Met signaling pathway could improve treatment efficacy in OSCC.
Title: A novel miR-365-3p/EHF/keratin 16 axis promotes oral squamous cell carcinoma metastasis, cancer stemness and drug resistance via enhancing β5-integrin/c-met signaling pathway.
Study identified iRHOM2 as a novel regulator of K16 in humans and mice, with important implications for palmoplantar keratodermas, wound healing, inflammatory skin disease and cancers.
Title: Rhomboid family member 2 regulates cytoskeletal stress-associated Keratin 16.
results suggest a conditional regulation of KRT16 gene by ATF4 that may be inhibited in normal cells, but engaged during cancer progression. Potential roles of KRT16, FAM129A and HKDC1 genes upregulation in adaptive stress responses and pathologies are discussed
Title: Implication of KRT16, FAM129A and HKDC1 genes as ATF4 regulated components of the integrated stress response.

Submit: New GeneRIF Correction See all GeneRIFs (31)

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
Pachyonychia congenita 1 MedGen: C1706595 OMIM: 167200 GeneReviews: Pachyonychia Congenita	Compare labs
Palmoplantar keratoderma, nonepidermolytic, focal 1 MedGen: C4552049 OMIM: 613000 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

SHGC-12962 (e-PCR)
- UniSTS:38047

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of cytoskeleton	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cytoskeleton organization	NAS Non-traceable Author Statement more info	PubMed
involved_in epithelial cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of skin barrier	ISS Inferred from Sequence or Structural Similarity more info
involved_in hair cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in innate immune response	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	ISS Inferred from Sequence or Structural Similarity more info
involved_in keratinocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in keratinocyte migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in morphogenesis of an epithelium	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed

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

General protein information

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Preferred Names: keratin, type I cytoskeletal 16

Names: cytokeratin 16; focal non-epidermolytic palmoplantar keratoderma; keratin 16, 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.