KRT6A keratin 6A [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRT6Aprovided by HGNC
Official Full Name: keratin 6Aprovided by HGNC
Primary source: HGNC:HGNC:6443
See related: Ensembl:ENSG00000205420 MIM:148041; AllianceGenome:HGNC:6443
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: K6A; K6C; K6D; PC3; CK6A; CK6C; CK6D; CK-6C; CK-6E; KRT6C; KRT6D
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. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been associated with pachyonychia congenita. In addition, peptides from the C-terminal region of the protein have antimicrobial activity against bacterial pathogens. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Oct 2014]
Expression: Restricted expression toward esophagus (RPKM 2985.3) See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.13

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (52487176..52493257, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (52451772..52457856, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (52880960..52887041, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

KRT6A Inhibits IL-1beta-Mediated Pyroptosis of Keratinocytes via Blocking IL-17 Signaling.
Title: KRT6A Inhibits IL-1β-Mediated Pyroptosis of Keratinocytes via Blocking IL-17 Signaling.
The expression pattern of cytokeratin 6a in epithelial cells of different origin in dermo-epidermal skin substitutes in vivo.
Title: The expression pattern of cytokeratin 6a in epithelial cells of different origin in dermo-epidermal skin substitutes in vivo.
Cytokeratin 5/6 expression in pT1 bladder cancer predicts intravesical recurrence in patients treated with bacillus Calmette-Guerin instillation.
Title: Cytokeratin 5/6 expression in pT1 bladder cancer predicts intravesical recurrence in patients treated with bacillus Calmette-Guérin instillation.
KRT6A expedites bladder cancer progression, regulated by miR-31-5p.
Title: KRT6A expedites bladder cancer progression, regulated by miR-31-5p.
A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report.
Title: A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report.
Keratin 6a mutations lead to impaired mitochondrial quality control.
Title: Keratin 6a mutations lead to impaired mitochondrial quality control.
Comprehensive Gene Expression Analyses of Immunohistochemically Defined Subgroups of Muscle-Invasive Urinary Bladder Urothelial Carcinoma.
Title: Comprehensive Gene Expression Analyses of Immunohistochemically Defined Subgroups of Muscle-Invasive Urinary Bladder Urothelial Carcinoma.
Anti-tumour effects of Keratin 6A in lung adenocarcinoma.
Title: Anti-tumour effects of Keratin 6A in lung adenocarcinoma.
Non-Muscle-Invasive Bladder Carcinoma with Respect to Basal Versus Luminal Keratin Expression.
Title: Non-Muscle-Invasive Bladder Carcinoma with Respect to Basal Versus Luminal Keratin Expression.
KRT6A Promotes EMT and Cancer Stem Cell Transformation in Lung Adenocarcinoma.
Title: KRT6A Promotes EMT and Cancer Stem Cell Transformation in Lung Adenocarcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (34)

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 3 MedGen: C3714948 OMIM: 615726 GeneReviews: Pachyonychia Congenita	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

D12S1938 (e-PCR)
- UniSTS:37410

RH17580 (e-PCR)
- UniSTS:52288

RH17657 (e-PCR)
- UniSTS:68162

BARC0027 (e-PCR)
- UniSTS:255312

RH119759 (e-PCR)
- UniSTS:133235

G64265 (e-PCR)
- UniSTS:166789

SHGC-35512 (e-PCR)
- UniSTS:57228

D12S761 (e-PCR)
- UniSTS:148910

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
enables structural constituent of skin epidermis	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IDA Inferred from Direct Assay more info	PubMed
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in defense response to Gram-positive bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to Gram-positive bacterium	IMP Inferred from Mutant Phenotype more info	PubMed
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 killing of cells of another organism	IDA Inferred from Direct Assay more info	PubMed
involved_in killing of cells of another organism	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in morphogenesis of an epithelium	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of entry of bacterium into host cell	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	NAS Non-traceable Author Statement more info	PubMed
involved_in wound healing	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in keratin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	HDA more info	PubMed
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: keratin, type II cytoskeletal 6A

Names: cytokeratin 6A; cytokeratin 6C; cytokeratin 6D; keratin 6A, , type II; keratin 6A, type II; keratin, epidermal type II, K6A; type-II keratin Kb6

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.