KRT9 keratin 9 [Homo sapiens] - Gene

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Summary

Official Symbol: KRT9provided by HGNC
Official Full Name: keratin 9provided by HGNC
Primary source: HGNC:6447
See related: Ensembl:ENSG00000171403; HPRD:06351; MIM:607606; Vega:OTTHUMG00000133599
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
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]

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Genomic context

Location :: 17q21.1-q21.2

Sequence :: Chromosome: 17; NC_000017.10 (39722093..39728310, complement)

See KRT9 in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

KRT9 may play a complicated role in the genesis of epidermolytic palmoplantar keratoderma with knuckle pads and camptodactyly.
Title: A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly.
Study provides evidence that epidermolytic palmoplantar keratoderma in a large Chinese family may result from a novel duplication mutation (c.495_503dupCTCTTACTT) in the 1A rod domain of KRT9.
Title: Duplication mutation of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma.
identified mRNA transcripts from three genes CDSN, LOR and KRT9, showing strong over-expression in skin samples relative to samples from forensic body fluids, making them suitable markers for skin identification
Title: mRNA-based skin identification for forensic applications.
A c.T1206C substitution in the 2B domain of KRT 9 was identified.
Title: A novel mutation of the keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma.
The affected members of all five families possess mutations in the KRT9 gene that severely affect heterodimer formation with the type II keratin partner.
Title: Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma.
Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene.
Title: Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred.
The genomic DNA from the patient's peripheral blood showed an R162W mutation in the keratin 9 gene. We therefore diagnosed the patient with Vorner type EPPK.
Title: Epidermolytic palmoplantar keratoderma with constriction bands on bilateral fifth toes.
We show that in a family affected by EPPK and knuckle pad keratosis, carrying the R163W substitution, wild type (wt) and mutated K9 are strongly expressed in knuckle pads. This suggests that the knuckle pad phenotype is due to ectopical expression of K9.
Title: Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression.
A heterozygous nucleotide T-->C transition at position 500 in exon 1 of KRT9 was detected, which resulted in a leucine to serine (L167S) change.
Title: Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family.
the first family from Northeast China affected by epidermolytic palmoplantar keratoderma (EPPK) in which we confirmed the presence of the N161S mutation as the result of a 548A>G transition in exon1 of the keratin 9 gene.
Title: Identification of the keratin 9 (KRT9) N161S mutation in a Chinese kindred with epidermolytic palmoplantar keratoderma.

Submit: New GeneRIF Correction See all (14)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Epidermolytic palmoplantar keratoderma

MIM: 144200

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Products	Interactant	Other Gene	Source	Pubs	Description
P35527	P27348	YWHAQ	HPRD	PubMed
P35527	Cyritestin 2		HPRD	PubMed
BioGRID:110055	BioGRID:111456	POU5F1	BioGRID	PubMed	Affinity Capture-RNA
BioGRID:110055	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110055	BioGRID:119509	UCHL5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110055	BioGRID:116168	YWHAQ	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
structural constituent of cytoskeleton	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
epidermis development	TAS Traceable Author Statement more info	PubMed
intermediate filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
skin development	IDA Inferred from Direct Assay more info	PubMed
spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
keratin filament	IEA Inferred from Electronic Annotation more info
perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: keratin, type I cytoskeletal 9

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

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NCBI Reference Sequences (RefSeq)

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_008300.1 RefSeqGene

Range

5001..11218

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000226.3 → NP_000217.2 keratin, type I cytoskeletal 9

Status: REVIEWED

Source sequence(s)

AC019349, Z29074

Consensus CDS

CCDS32654.1

UniProtKB/Swiss-Prot

P35527

Related

ENSP00000246662, OTTHUMP00000164967, ENST00000246662, OTTHUMT00000257707

Conserved Domains (1) summary

pfam00038
Location:152 – 463
Blast Score: 863

Filament; Intermediate filament protein

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p5 Primary Assembly

Range

39722093..39728310, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

35485212..35491427, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC019349.28 (26076..32293)	None
genomic	CH471152.1	EAW60744.1
genomic	X75015.1	CAA52924.1
mRNA	AB001594.1	BAA19418.1
mRNA	BC121170.2	AAI21171.1
mRNA	S69510.1	AAC60619.1
mRNA	Z29074.1	CAA82315.1
other-genetic	BC167813.1	AAI67813.1