1. Gene
  2. KRT1 - keratin 1 Gene

KRT1 - keratin 1 Gene

Homo sapiens

Also known as K1; CK1; EHK; AEI2; EHK1; EPPK; KRT1A; NEPPK

Gene ID: 3848 | Gene type: protein coding

About KRT1

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:52,674,736-52,680,407 (from NCBI)

This gene has 2 transcripts (splice variants), 78 orthologues, 68 paralogues and is associated with 18 phenotypes. Restricted expression toward skin (RPKM 6502.3).

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]

KRT1 Products(1)

mRNA Protein Name
NM_006121.4 NP_006112.3 keratin, type II cytoskeletal 1

KRT1 Protein Structure

Filament

Filament: Intermediate filament protein (180 - 492)

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  • 644 a.a.
Protein Preferred Names Protein Names

keratin, type II cytoskeletal 1

67 kDa cytokeratin

Related Diseases

Diseases Alias
Palmoplantar Keratoderma, Nonepidermolytic

Nonepidermolytic Palmoplantar Keratoderma

NEPPK

Tylosis

Unna-Thost Syndrome

Keratoderma, Palmoplantar, Diffuse

Ppkne

Keratoderma, Nonepidermolytic Palmoplantar

Diffuse Nonepidermolytic Palmomplantar Keratoderma

Thost-Unna Syndrome

Non-Epidermolytic Palmoplantar Keratoderma

Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type

Diffuse Palmoplantar Keratoderma, Bothnian Type

Krt1-Related Diffuse Nonepidermolytic Keratoderma

Krt1-Related Diffuse Neppk

Keratoderma, Palmoplantar, Non-Epidermolytic

Nonepidermolytic Unna-Thost Disease

Non-Epidermolytic Unna-Thost Disease

Keratoderma, Palmoplantar, Nonepidermolytic

Hyperkeratosis

Epidermolytic Hyperkeratosis

Bullous Congenital Ichthyosiform Erythroderma

Bullous Ichthyosiform Erythroderma

EHK

Bullous Erythroderma Ichthyosiformis Congenita Of Brocq

Bcie

Bie

Epidermolytic Ichthyosis

Ichthyosis Bullosa Of Siemens

Superficial Epidermolytic Ichthyosis

Hyperkeratosis, Epidermolytic

Congenital Bullous Ichthyosiform Erythroderma

Bullous Type Ichthyosis

Epidermolytic Palmoplantar Hyperkeratosis

Bullous Ichthyosiform Erythroderma Congenita

Bullous Erythroderma Ichthyosiforme

Sei

Epidermolytic Hyperkeratosis Late-Onset

Epidermolytic Hyperkeratosis, Late-Onset

Ichthyosis Hystrix, Curth-Macklin Type

IHCM

Ichthyosis Hystrix Of Curth-Macklin

Ichthyosis Hystrix, Curth Macklin Type

Ichthyosis Histrix, Curth-Macklin Type

Curth-Macklin Type Ichthyosis Hystrix

Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis

AEI

Annular Epidermolytic Ichthyosis

Epidermolytic Ichthyosis, Annular

Ciehk

Ichthyosis Annular Epidermolytic

Annular Ichthyosis Variant Of Bcie

Cyclic Ichthyosis With Epidermolytic Hyperkeratosis

Keratosis Palmoplantaris Striata Iii

Keratosis Palmoplantaris Striata 3

PPKS3

Striate Palmoplantar Keratoderma Iii

SPPK3

Keratoderma, Palmoplantar, Striate Form Iii

Kpps3

Keratoderma Palmoplantar Striate Form 3

Striate Palmoplantar Keratoderma 3

Keratoderma, Palmoplantar, Striate 3

Keratosis Palmoplantaris Striata, Type 3

Palmoplantar Keratoderma, Epidermolytic

Epidermolytic Palmoplantar Keratoderma

EPPK

Keratosis Palmaris Et Plantaris Familiaris

Tylosis

Keratosis Of Greither

Diffuse Nonepidermolytic Palmoplantar Keratoderma

Keratoderma, Palmoplantar, Epidermolytic

Unna-Thost Palmoplantar Keratoderma

Epidermolytic Palmoplantar Keratoderma Of Voerner

Ppke

Keratoderma, Epidermolytic Palmoplantar

Palmoplantar Keratoderma, Vorner Type

Hyperkeratosis, Localized Epidermolytic

Diffuse Erythrodermic Palmoplantar Keratoderma, Vörner Type

Epidermolytic Palmoplantar Keratoderma Of Vörner

Hyperkeratosis Palmoplantar Localized Epidermolytic

Diffuse Neppk

Ppk Diffusa Circumscripta

Thost-Unna Disease

Thost-Unna Palmoplantar Keratoderma

Diffuse Erythrodermic Palmoplantar Keratoderma, Voerner Type

Diffuse Erythrodermic Palmoplantar Keratoderma, Vorner Type

Epidermolytic Palmoplantar Keratoderma Of Vorner

Ehppk

Epidermolytic Unna-Thost Disease

Localized Epidermolytic Hyperkeratosis

Palmoplantar Keratoderma Vorner Type

Unilateral Palmoplantar Verrucous Nevus

UPVN

Keratoderma, Palmoplantar, Diffuse

Hyperkeratosis

Palmoplantar Keratoderma, Nonepidermolytic

Epidermolytic Palmoplantar Keratoderma Vorner Type

Type B Tylosis

Hyperkeratosis Of The Palms And Soles And Esophageal Papillomas

Type A Tylosis

Ichthyosis With Confetti

Congenital Reticular Ichthyosiform Erythroderma

IWC

CRIE

Erythroderma, Ichthyosiform, Congenital Reticular

Ichthyosis Variegata

Erythrokeratoderma, Reticular

Ichthyosis Variegata Micropinnae, Alopecia Universalis, Congenital Ichthyosis, And Ectropion

Mauie

Mauie Syndrome

Aarau Disease

Reticular Erythrokeratoderma

Autosomal Dominant Epidermolytic Ichthyosis

Bcie

Bullous Congenital Ichthyosiform Erythroderma

Bullous Congenital Ichthyosiform Erythroderma Of Brock

Bullous Ichthyosis

Ehk

Ei

Epidermolytic Hyperkeratosis

Ichthyosis Hystrix Brocq Type

Striate Palmoplantar Keratoderma

Keratosis Palmoplantaris Striata

Keratosis Palmoplantaris Striata Et Areata

Keratosis Palmoplantaris Varians Of Wachters

Keratoderma, Palmoplantar, With Nail Dystrophy And Hereditary Motor-Sensory Neuropathy

Axonal Neuropathy With Palmoplantar Keratoderma

Charcot-Marie-Tooth Disease With Palmoplantar Keratoderma And Nail Dystrophy

Keratoderma Palmoplantar Spastic Paralysis

Palmoplantar Keratoderma-Spastic Paralysis Syndrome

Powell-Venencie-Gordon Syndrome

Palmoplantar Hyperkeratosis-Spastic Paralysis Syndrome

Palmoplantar Keratoderma-Hereditary Motor And Sensory Neuropathy Syndrome

Palmoplantar Keratoderma-Charcot-Marie-Tooth Syndrome

Powell Venencie Gordon Syndrome

Keratosis

Actinic Keratosis

Hyperkeratosis

Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis

Epidermolysis Bullosa Simplex

Ebs

Epidermolysis Bullosa Intraepidermic

Epidermolytic Epidermolysis Bullosa

Palmoplantar Keratosis

Palmoplantar Keratoderma

Keratosis Palmaris Et Plantaris

Palmo-Plantar Keratodermas

Keratoderma, Palmoplantar

Keratoderma Palmoplantar

Keratoderma, Palmoplantar, Diffuse

Hyperkeratosis Of Palms And Soles

Palmoplantar Hyperkeratosis

Ichthyosis Bullosa Of Siemens

IBS

Ichthyosis, Bullous Type

Bullous Type Of Ichthyosis

Ichthyosis Bullous Type

Ichthyosis Vulgaris

Ichthyosis Simplex

Dominant Congenital Ichthyosiform Erythroderma

Common Ichthyosis

Fish Scale Disease

VI

Ichthyoses

Congenital Ichthyosis

Leukoplakia

Leukoplakia Of Gingiva

Leukoplakia Of Oral Epithelium

Leucoplakia Of Oral Mucosa

Leukokeratosis Of Oral Mucosa

Epithelioid Sarcoma

Epithelioid Cell Sarcoma

Sarcoma Epithelioid

Sarcoma, Epithelioid

Epidermolytic Acanthoma
Ameloblastoma

Adenoameloblastoma

Skin Disease

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

Epidermolysis Bullosa

Acantholysis Bullosa

Eb

Syringoma

Syringomas

Lichen Planus

Lichen Ruber Planus

Lichen, Ruber Planus

Ruber Planus

Lp - [Lichen Planus]

Lichen Planus Of Wilson

Wilson Lichen Ruber

Skin Benign Neoplasm

Neoplasm Of Skin By Site

Tumor Of The Skin

Skin Tumor

Benign Neoplasm Of Skin

Skin Neoplasms

Cicatricial Lagophthalmos
Papilloma

Papillomatosis

Acrokeratosis Verruciformis

Acrokeratosis Verruciformis Of Hopf

Hopf Disease

AKV

Akv Of Hopf

Pachyonychia Congenita 1

Pachyonychia Congenita

Jadassohn-Lewandowsky Syndrome

Pachyonychia Congenita Syndrome

PC1

Pachyonychia Congenita, Jadassohn-Lewandowsky Type

Congenital Pachyonychia

Pachyonychia Congenita, Type 1

Pachyonychia Congenita, Jadassohn-Lewandowsky Type, Formerly

Jadassohn-Lewandowsky Syndrome, Formerly

Jackson-Lawler Type Pachyonychia Congenita

Pachyonychia Congenita Type 1

Jackson-Lawler Syndrome

Jadassohn-Lewandowski Syndrome

Pc

Pachyonychia Congenita Jackson-Lawler Type

Pachyonychia Congenita Jadassohn-Lewandowsky Type

Pachyonychia Congenita Jackson Lawler Type

Pc-1

Pachyonychia Congenita, Jadassohn Lewandowsky Type

Pachyonychia Congenita, Type 2

Nevus, Epidermal

Epidermal Nevus

Woolly Hair Nevus

Epidermal Naevus

Epidermal Nevus Syndrome

Nevus, Keratinocytic, Nonepidermolytic

Epidermal Nevus, Somatic

Nevus, Epidermal, Somatic

Nevus Sebaceous Or Woolly Hair Nevus, Somatic

Nonepidermolytic Keratinocytic Nevus

Epidermal Hamartoma Syndrome

Wooly Hair Nevus

Keratinocytic Non-Epidermolytic Nevus

KNEN

Pigmented Moles

Organoid Nevus Phakomatosis

Nevus Sebaceous

Melanocytic Nevus

Melanocytic Nevus Of Skin

Trichothiodystrophy 1, Photosensitive

TTD1

Tay Syndrome

Trichothiodystrophy With Congenital Ichthyosis

Photosensitive Trichothiodystrophy

Ibids Syndrome

Ttdp

Ichthyosiform Erythroderma With Hair Abnormality And Mental And Growth Retardation

Ichthyosis, Congenital, With Trichothiodystrophy

Pibids Syndrome

Photosensitive Trichothiodystrophy 1

Trichothiodystrophy, Photosensitive

Sulfur-Deficient Brittle Hair Syndrome

Ttd-P

Ichthyosis With Brittle Hair, Intellectual Impairment, Decreased Fertility And Short Stature

Trichothiodystrophy Photosensitive

Trichothiodystrophy, Type 1

Tricho-Thiodystrophy Disorder

Trichothiodystrophy Syndromes

Amish Brittle Hair Brain Syndrome

Acanthoma
Lymphocytic Choriomeningitis

Lcm

Lymphocytic Meningitis

Lymphocytic Choriomeningitis Virus Encephalomyelitis

Lymphocytic Meningoencephalitis

Non-Arthropod Borne Lymphocytic Choriomeningitis

Lcm - [Lymphocytic Choriomeningitis]

Benign Lymphocytic Meningitis

Meningitis Due To Lymphocytic Choriomeningitis Virus

Psoriasis
Toxicodendron Dermatitis

Dermatitis, Toxicodendron

Contact Dermatitis Due To Genus Toxicodendron

Rhus Dermatitis

Dermatitis Toxicodendron

Acrokeratoderma, Hereditary Papulotranslucent

Hereditary Papulotranslucent Acrokeratoderma

Recessive Dystrophic Epidermolysis Bullosa

Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis

Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type

Rdeb, Hallopeau-Siemens Type

Severe Generalized Rdeb

Severe Generalized Recessive Dystrophic Epidermolysis Bullosa

Rdeb Generalisata Gravis

Rdeb, Severe Generalized

Rdeb-Sev Gen

Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized

Hallopeau-Siemens Disease

Erythrasma

Infection Due To Corynebacterium Minutissimum

Ichthyosis, Congenital, Autosomal Recessive 4b

Harlequin Ichthyosis

Autosomal Recessive Congenital Ichthyosis 4b

Hi

Harlequin Fetus

ARCI4B

Ichthyosis Congenita, Harlequin Fetus Type

Harlequin Type Ichthyosis

'Harlequin Fetus'

Harlequin Type Ichthyosis Congenita

Harlequin Type Ichthyosis Fetalis

Harlequin Baby Syndrome

Ichthyosis Congenita, Harlequin Type

Ichthyosis Fetalis, Harlequin Type

Ichthyosis Congenita Harlequin Fetus Type

Ichthyosis, Harlequin

Ichthyosis, Congenital, Autosomal Recessive, Type 4b

Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

Focal Nonepidermolytic Palmoplantar Keratoderma

Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma

FNEPPK1

Ppkfne

Keratoderma, Focal Nonepidermolytic Palmoplantar

Palmoplantar Keratoderma, Nonepidermolytic, Focal

Hyperkeratosis Of The Palms And Soles And Esophageal Papillomas

Fneppk

Focal Nonepidermolytic Palmoplantar Keratoderma 1

Keratoderma, Palmoplantar, Non-Epidermolytic, Focal 1

Keratoderma, Palmoplantar, Nonepidermolytic, Focal, Type 1

Basal Cell Carcinoma

Basal Cell Cancer

Basal Cell Neoplasm

Basal Cell Carcinoma Of Skin

Malignant Basal Cell Tumor

Basal Cell Tumor

Epithelioma Basal Cell

Malignant Basal Cell Neoplasm

Rodent Ulcer

Carcinoma Basal Cell

Neoplasms, Basal Cell

Basal Cell Carcinomas

Experimental Organism Basal Cell Carcinoma

Nodulo-Ulcerative Basal Cell Carcinoma

Basalioma

Basal Cell Epithelioma Of Skin

Bcc - [Basal Cell Carcinoma] Of Skin

Rodent Ulcer Of Skin

Rodent Ulcer Of Unspecified Site

Basal Cell Epithelioma Of Unspecified Site

Erythrokeratodermia Variabilis Et Progressiva 1

Erythrokeratodermia Variabilis

Erythrokeratodermia Variabilis Et Progressiva

Greither Disease

Ekv

Ekvp

PSEK

Erythrokeratodermia Variabilis With Erythema Gyratum Repens

Keratosis Palmoplantaris Transgrediens Et Progrediens

Transgrediens Et Progrediens Palmoplantar Keratoderma

EKVP1

Erythrokeratodermia, Progressive Symmetric

Erythrokeratodermia Figurata, Congenital Familial, In Plaques

Keratoderma Palmoplantaris Transgrediens

Keratosis Extremitatum Hereditaria Progrediens

Erythrokeratodermia Variabilis, Mendes Da Costa Type

Progressive Symmetric Erythrokeratodermia

Erythrokeratodermia Figurata Variabilis

Greither'S Disease

Ekv-P

Erythrokeratodermia Variabilis Of Mendes Da Costa

Progressive Symmetrical Erythrokeratoderma Of Gottron

Progressive Diffuse Ppk

Progressive Diffuse Palmoplantar Keratoderma

Transgrediens Et Progrediens Ppk

Darier-Gottron Disease

Erythrokeratodermia Progressiva Symmetrica

Progressive Symmetric Erythrokeratodermia, Gottron Type

Congenital Familial Erythrokeratodermia Figurata In Plaques

Erythrokeratodermia Progressive Symmetric

Erythrokeratodermia Variabilis Mendes Da Costa Type

White Sponge Nevus 1

White Sponge Nevus Of Cannon

Leukokeratosis, Hereditary Mucosal

Hereditary Mucosal Leukokeratosis

White Sponge Nevus

WSN1

Wsn

Cannon'S Disease

Familial White Folded Mucosal Dysplasia

Hereditary Leukokeratosis

Hereditary Oral Keratosis

Leukokeratosis Of Oral Mucosa

Nevus Of Cannon

White Folded Gingivostomatosis

White Gingivostomatitis

White Sponge Naevus

White Sponge Nevus Of Mucosa

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis

Congenital Ichthyosiform Erythroderma

Li

Congenital Nonbullous Ichthyosiform Erythroderma

Arci

Congenital Lamellar Ichthyosis

Nonbullous Congenital Ichthyosiform Erythroderma

Cie

Congenital Non-Bullous Ichthyosiform Erythroderma

Erythrodermic Ichthyosis

Nbcie

Ncie

Non-Bullous Congenital Ichthyosiform Erythroderma

Collodion Baby

Ichthyosis, Lamellar

Non Bullous Congenital Ichthyosiform Erythroderma

Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form

Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

Collodion Baby Syndrome

Ichthyoses, Lamellar

Nbie

Nonbullous Ichthyosiform Erythroderma

Classic Lamellar Ichthyosis

Ichthyosiform Erythroderma Nonbullous Congenital

Ichthyosiform Erythroderma Congenital

Ichthyosis, Congenital, Autosomal Recessive

Ichthyosiform Erythroderma, Congenital

Collodion Fetus

Non-Bullous Ichthyosiform Erythroderma

Skin Papilloma

Cutaneous Papilloma

Papilloma Of Skin

Papilloma Skin

Porokeratosis

Disseminated Superficial Actinic Porokeratosis

Dsap

Porokeratosis Of Mibelli

Porokeratosis, Disseminated Superficial Actinic

Porokeratosis, Disseminated Superficial Actinic, 1

Epidermolysis Bullosa Dystrophica

Dystrophic Epidermolysis Bullosa

Deb

Dermolytic Epidermolysis Bullosa

Epidermolysis Bullosa, Dermolytic

Epidermolysis Bullosa, Dystrophic

Epidermolysis Bullosa Dystrophic

Dystrophic Eb - [Epidermolysis Bullosa]

Epidermolysis Bullosa Simplex 2f, With Mottled Pigmentation

Epidermolysis Bullosa Simplex With Mottled Pigmentation

Ebsmp

Speckled Hyperpigmentation With Punctate Palmoplantar Keratoses And Childhood Blistering

Ebs-Mp

EBS2F

Ebs With Mottled Pigmentation

Epidermolysis Bullosa Simplex-Mp

Speckled Hyperpigmentation, Palmo-Plantar Punctate Keratoses And Childhood Blistering

Epidermolysis Bullosa Simplex, With Mottled Pigmentation

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

Junctional Epidermolysis Bullosa

Epidermolysis Bullosa, Junctional

Jeb

Epidermolysis Bullosa Atrophicans

Congenital Junctional Epidermolysis Bullosa

Epidermolysis Bullosa Junctional

Junctional Eb - [Epidermolysis Bullosa]

Jeb - [Junctional Epidermolysis Bullosa]

Lucidolytic Epidermolysis Bullosa

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta KRT1 VGNC VGNC:74206
Canis familiaris KRT1 VGNC VGNC:42515
Rattus norvegicus KRT1 RGD RGD:1359664
Bos taurus KRT1 VGNC VGNC:30716
Mus musculus KRT1 MGD MGI:96698
Others KRT1 NCBI