KRT1 keratin 1 [Homo sapiens] - Gene

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Summary

Official Symbol: KRT1provided by HGNC
Official Full Name: keratin 1provided by HGNC
Primary source: HGNC:6412
See related: Ensembl:ENSG00000167768; HPRD:00763; MIM:139350; Vega:OTTHUMG00000169749
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: K1; CK1; EHK; EHK1; EPPK; KRT1A; NEPPK
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. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 12q13.13

Sequence :: Chromosome: 12; NC_000012.11 (53068520..53074191, complement)

See KRT1 in Epigenomics, MapViewer

Chromosome 12 - NC_000012.11 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?

we describe one Chinese family affected with EHK, type PS-1 (severe palmoplantar hyperkeratosis, type 1) and report a recurrent missense mutation (c.1436T>C) in the 2B rod domain of KRT1 in this family.
Title: A recurrent missense mutation of keratin 1 gene in a Chinese family with epidermolytic hyperkeratosis (severe palmoplantar hyperkeratosis, type 1).
mutation analysis in patients with epidermolytic ichthyosis by direct sequencing of KRT1 and KRT10 genes; identified 14 different mutations, of which four have not been published previously
Title: Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.
keratin 1 L12 domain mutations are associated with a milder epidermolytic ichthyosis phenotype with pronounced palmoplantar keratoderma, and without neonatal erythroderma and scaling.
Title: A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis.
Data demonstrate that genetic variants in the KRT1 interval contribute to quantifiable differences in the migration rates of keratinocytes isolated from different individuals.
Title: In vitro human keratinocyte migration rates are associated with SNPs in the KRT1 interval.
Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree.
Title: Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree.
Keratin 1, an intermediate filament network component, is the binding partner of the lymphocytic choriomeningitis virus nucleoprotein.
Title: The nucleoprotein of lymphocytic choriomeningitis virus facilitates spread of persistent infection through stabilization of the keratin network.
Infection by HPV may alter the differentiation status of the epidermis, leading to delayed or absent expression of cytokeratin 1.
Title: Comparative analysis of the expression of cytokeratins (1, 10, 14, 16, 4), involucrin, filaggrin and e-cadherin in plane warts and epidermodysplasia verruciformis plane wart-type lesions.
The 2 keratin 1 mutations are associated with tonotubular keratin, i.e. 'whorls' of aggregated keratin that form tubules as seen in transverse or in longitudinal sections
Title: Novel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules.
RT-PCR and western blot analysis revealed a delay in the expression of the differentiation markers K1, K10 and involucrin in HaCaT cells compared with normal human keratinocytes
Title: Effects of extracellular calcium on the growth-differentiation switch in immortalized keratinocyte HaCaT cells compared with normal human keratinocytes.
A new genetic polymorphism has been detected, which is especially prevalent among the African-American population.
Title: A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.

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

Products	Interactant	Other Gene	Source	Pubs	Description
P04264	P22676	CALB2	HPRD	PubMed
P04264	P15924	DSP	HPRD	PubMed
P04264	Q92817	EVPL	HPRD	PubMed
P04264	P00748	F12	HPRD	PubMed
P04264	P01042	KNG1	HPRD	PubMed
P04264	P13647	KRT5	HPRD	PubMed
P04264	P11226	MBL2	HPRD	PubMed
P04264	Q02156	PRKCE	HPRD	PubMed
P04264	P27348	YWHAQ	HPRD	PubMed
BioGRID:110046	BioGRID:107857	CSTA	BioGRID	PubMed	Reconstituted Complex
BioGRID:110046	BioGRID:108166	DSP	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:110046	BioGRID:108472	FANCA	BioGRID	PubMed	Two-hybrid
BioGRID:110046	BioGRID:108473	FANCC	BioGRID	PubMed	Two-hybrid
BioGRID:110046	BioGRID:109318	HDGF	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110046	BioGRID:109917	IVL	BioGRID	PubMed	Reconstituted Complex
BioGRID:110046	BioGRID:110026	KNG1	BioGRID	PubMed	Reconstituted Complex
BioGRID:110046	BioGRID:110198	LOR	BioGRID	PubMed	Reconstituted Complex
BioGRID:110046	BioGRID:110323	MBL2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110046	BioGRID:111284	PI3	BioGRID	PubMed	Reconstituted Complex
BioGRID:110046	BioGRID:111456	POU5F1	BioGRID	PubMed	Affinity Capture-RNA
BioGRID:110046	BioGRID:111567	PRKCE	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:110046	BioGRID:112937	TJP1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110046	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110046	BioGRID:119509	UCHL5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110046	BioGRID:116168	YWHAQ	BioGRID	PubMed	Affinity Capture-MS

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

Process	Evidence Code	Pubs
complement activation, lectin pathway	IPI Inferred from Physical Interaction more info	PubMed
epidermis development	TAS Traceable Author Statement more info	PubMed
fibrinolysis	NAS Non-traceable Author Statement more info	PubMed
regulation of angiogenesis	NAS Non-traceable Author Statement more info	PubMed
response to oxidative stress	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytoskeleton	TAS Traceable Author Statement more info	PubMed
intermediate filament	TAS Traceable Author Statement more info	PubMed
keratin filament	IEA Inferred from Electronic Annotation more info
membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: keratin, type II cytoskeletal 1

Names: keratin, type II cytoskeletal 1; CK-1; cytokeratin 1; cytokeratin-1; 67 kDa cytokeratin; hair alpha protein; type-II keratin Kb1; epidermolytic hyperkeratosis 1

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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_008364.1 RefSeqGene

Range

5001..10672

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006121.3 → NP_006112.3 keratin, type II cytoskeletal 1

Status: REVIEWED

Source sequence(s)

AC055716, BC063697, DB112126

Consensus CDS

CCDS8836.1

UniProtKB/Swiss-Prot

P04264

Related

ENSP00000252244, OTTHUMP00000241991, ENST00000252244, OTTHUMT00000405706

Conserved Domains (2) summary

pfam00038
Location:180 – 492
Blast Score: 899

Filament; Intermediate filament protein

cl01888
Location:405 – 465
Blast Score: 80

DUF883; Bacterial protein of unknown function (DUF883)

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_000012.11 Reference GRCh37.p5 Primary Assembly

Range

53068520..53074191, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000144.1 Alternate HuRef

Range

50112373..50118022, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC055716.24 (26312..32039)	None
genomic	AF237621.1	AAF60327.1
genomic	AF304164.1	AAG41947.1
genomic	CH471054.1	EAW96642.1
genomic	HI573920.1	CBX47449.1
genomic	JN866515.1	AFA52002.1
genomic	JN866516.1	AFA52003.1
genomic	JN866517.1	AFA52004.1
genomic	JN866518.1	AFA52005.1
genomic	JN866519.1	AFA52006.1
genomic	JN866520.1	AFA52007.1
genomic	M98776.1	AAB47721.1
genomic	X69725.1	None
genomic	X69758.1	None
mRNA	AK313986.1	BAG36698.1
mRNA	BC063697.1	AAH63697.1
mRNA	DB112126.1	None
mRNA	M10938.1	AAA36153.1