KRT9 keratin 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRT9provided by HGNC
Official Full Name: keratin 9provided by HGNC
Primary source: HGNC:HGNC:6447
See related: Ensembl:ENSG00000171403 MIM:607606; AllianceGenome:HGNC:6447
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: K9; CK-9; EPPK; EPPK1
Summary: This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset 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 (41565836..41572059, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (42421421..42427646, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (39722088..39728311, 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?

Cytokeratin 7 and 19 expression in oropharyngeal and oral squamous cell carcinoma.
Title: Cytokeratin 7 and 19 expression in oropharyngeal and oral squamous cell carcinoma.
KRT9 L164P mutation is associated with epidermolytic palmoplantar keratoderma.
Title: Keratin 9 L164P mutation in a Chinese pedigree with epidermolytic palmoplantar keratoderma, cytokeratin analysis, and literature review.
Exogenous dsRNA inhibits KRT9 expression in early passage volar keratinocytes or in vivo footpads of wild-type mice. Loss of DDX58 in passaged volar keratinocytes rescues KRT9 and inhibits KRT7 expression.
Title: dsRNA Sensing Induces Loss of Cell Identity.
Study identified a novel L164P mutation responsible for epidermolytic palmoplantar keratoderma (EPPK) in a large Chinese family and three recurrent mutations in another three Chinese families with EPPK. All these mutations are located in the highly conserved 1A rod domain of keratin 9.
Title: Mutations in the highly conserved 1A rod domain of keratin 9 responsible for epidermolytic palmoplantar keratoderma in four Chinese families.
keratin 9 is an Hsp70 client protein and is expressed in human bladder cancer cells.
Title: Drug-induced keratin 9 interaction with Hsp70 in bladder cancer cells.
A novel heterozygous c.1369C>T transition (p.Leu457Phe) in exon 6 of the KRT9 gene was identified in four patients in a Chinese Family with Epidermolytic Palmoplantar Keratoderma.
Title: Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma.
During analyzing the sequences of KRT9 gene of a epidermolytic palmoplantar keratoderma (EPPK) pedigree, we found a new heterozygous missense mutation (488G>T) of exon 1 of KRT9 gene, which has not been reported before and does not exist in healthy individuals of the family and 100 unrelated individuals.
Title: A novel mutation of KRT9 gene in a Chinese Han pedigree with epidermolytic palmoplantar keratoderma.
Results identified the missense mutation KRT9 c.487C>T, as a potential causative mutation in the large Uygur family with epidermolytic palmoplantar keratoderma.
Title: Six generations of epidermolytic palmoplantar keratoderma, associated with a KRT9 R163W mutation.
KRT9 expression is significantly downregulated in human masticatory mucosa during wound healing
Title: Human gingiva transcriptome during wound healing.
Findings suggest that dysregulated Keratin 9 expression is a consequence of Alzheimer's disease (AD).
Title: Rationalising the role of Keratin 9 as a biomarker for Alzheimer's disease.

Submit: New GeneRIF Correction See all GeneRIFs (32)

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
Palmoplantar keratoderma, epidermolytic MedGen: C1721006 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

D17S1787 (e-PCR), detects polymorphism
- UniSTS:50211

GDB:316944 (e-PCR)
- UniSTS:156582

SHGC-150918 (e-PCR)
- UniSTS:173478

GDB:316947 (e-PCR)
- UniSTS:156583

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 intermediate filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in intermediate filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skin development	IDA Inferred from Direct Assay more info	PubMed
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
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 extracellular space	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 I cytoskeletal 9

Names: cytokeratin 9; keratin 9, type I; type I cytoskeletal 9

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.