SPINK5 - serine peptidase inhibitor Kazal type 5 Gene

Homo sapiens

Also known as NS; NETS; LEKTI; LETKI; VAKTI

Gene ID: 11005 | Gene type: protein coding

About SPINK5

Cytogenetic location: 5q32 Genomic coordinates (GRCh38): 5:148,063,980-148,137,382 (from NCBI)

This gene has 10 transcripts (splice variants), 95 orthologues, 6 paralogues and is associated with 3 phenotypes. Biased expression in esophagus (RPKM 472.7) and skin (RPKM 127.7).

Summary

This gene encodes a multidomain Serine Protease Inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

SPINK5 Products(3)

mRNA	Protein	Name
NM_001127698.2	NP_001121170.1	serine protease inhibitor Kazal-type 5 isoform a preproprotein
NM_001127699.2	NP_001121171.1	serine protease inhibitor Kazal-type 5 isoform c preproprotein
NM_006846.4	NP_006837.2	serine protease inhibitor Kazal-type 5 isoform b preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables serine-type endopeptidase inhibitor activity	IDA IDA: Inferred from direct assay	10419450	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in epidermal cell differentiation	IDA IDA: Inferred from direct assay	12915442	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cell cortex	IDA IDA: Inferred from direct assay	12915442	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	12915442	GOA
located in cytosol	IDA IDA: Inferred from direct assay	15680911	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	15680911	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	15680911	GOA
located in epidermal lamellar body	IDA IDA: Inferred from direct assay	15675955	GOA
located in extracellular region	IDA IDA: Inferred from direct assay	15680911	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	15680911	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SPINK5 Protein Structure

Kazal_1

Kazal_2

Kazal_1

0
200
400
600
800
1000
1064 a.a.

Protein Preferred Names

Protein Names

serine protease inhibitor Kazal-type 5

lympho-epithelial Kazal-type-related inhibitor

Related Diseases

Diseases

Alias

Netherton Syndrome

NETH	Ns
Netherton Disease	Comel-Netherton Syndrome
Erythroderma, Ichthyosiform, With Hypotrichosis And Hyper-Ige	Bamboo Hair Syndrome
Ichthyosis Linearis Circumflexa	Ichthyosiform Erythroderma With Hypotrichosis And Hyper-Ige
Ilc	Nts
N Syndrome

Exfoliative Dermatitis

Otitis Media

Opsoclonus-Myoclonus Syndrome	OMS
Otitis Media, Susceptibility To	Kinsbourne Syndrome
Otitis Media, Chronic/Recurrent	Come/Rom
Ataxo-Opso-Myoclonus Syndrome	Dancing Eye Syndrome
Dancing Eye-Dancing Feet Syndrome	Oma Syndrome
Opsoclonus Myoclonus Syndrome	Opsoclonus-Myoclonus-Ataxia Syndrome
Poma Syndrome	Paraneoplastic Opsoclonus-Myoclonus
Paraneoplastic Opsoclonus-Myoclonus-Ataxia Syndrome	Opsoclonus Myoclonus
OM	{Otitis Media, Susceptibility To}
Infectious Otitis Media

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

Ichthyosis Linearis Circumflexa

Ige Responsiveness, Atopic

ATOPY	Atopy, Susceptibility To
Ige, Elevated Level Of	IGER
Immunoglobulin E, Basic Level Of, In Serum	Ige, Level Of
Igel	Ige Response Underlying Allergic Asthma And Rhinitis
Atopic Hypersensitivity	Immediate Hypersensitivity

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

Dermatitis

Eczema	Skin Inflammation
Inflammatory Dermatosis

Black Piedra

Tinea Nodosa	Trichomycosis Nodularis
Chignon Disease

Dermatitis, Atopic

Atopic Dermatitis	Atopic Eczema
Dermatitis, Atopic, Susceptibility To, 1	Atod
Eczema, Atopic	Dermatitis, Atopic 1
Allergic Dermatitis	Atopic Neurodermatitis
Besnier'S Prurigo	Dermatitis, Atopic, 1
Dermatitis Atopic	Eczema
Besnier Prurigo

Skin Disease

Skin Diseases	Genodermatosis
Abnormality Of The Skin	Skin Diseases, Genetic
Skin And Subcutaneous Tissue Disease	Dermatologic Disorders

Peeling Skin Syndrome

Deciduous Skin	Familial Continuous Skin Peeling Syndrome
Idiopathic Deciduous Skin	Keratosis Exfoliativa Congenita
Pss	Peeling Skin Disease
Skin Peeling Syndrome	Familial Continuous Skin Peeling
Keratolysis Exfoliativa Congenita	Exfoliation Syndrome
Keratolysis Exfoliativa

Ichthyosis Vulgaris

Ichthyosis Simplex	Dominant Congenital Ichthyosiform Erythroderma
Common Ichthyosis	Fish Scale Disease
VI	Ichthyoses
Congenital Ichthyosis

Asthma

Chronic Obstructive Asthma	Asthma, Diminished Response To Antileukotriene Treatment In
Bronchial Hyperreactivity	Asthma, Susceptibility To
Asthma, Bronchial	Asthma, Protection Against
Asthma, Nocturnal, Susceptibility To	Nocturnal Asthma
Asthma-Related Traits	Asthma-Related Traits, Susceptibility To
Asthma, Nocturnal	Chronic Obstructive Asthma With Acute Exacerbation
Chronic Obstructive Asthma With Status Asthmaticus	Exercise Induced Asthma
Exercise-Induced Asthma	Bronchial Asthma
Asthma, Exercise-Induced	Idiosyncratic Asthma
Unspecified Asthma With Acute Exacerbation	Asthma, Unspecified, With Stated Status Asthmaticus
Status Asthmaticus Nos	Acute Severe Asthma
Acute Severe Bronchial Asthma	Status Asthma
Status Post Asthmaticus

Eczema Herpeticum

Herpes Simplex Dermatitis	Herpes Simplex Eyelid Dermatitis
Kaposi Varicelliform Eruption	Herpes Simplex Dermatitis Of Eyelid
Herpes Simplex Virus Dermatitis	Herpes Simplex Virus Eyelid Dermatitis

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

Inflammatory Bowel Disease 28

Early Onset Autosomal Recessive Inflammatory Bowel Disease 28	Ibd28
Inflammatory Bowel Disease 28, Autosomal Recessive

Seborrheic Dermatitis

Seborrhoeic Dermatitis	Seborrhea
Seborrhoeic Eczema	Skin Seborrheic
Dermatitis, Seborrheic

Apple Allergy

Malus Domestica Fruit Allergy

Ichthyosis, Congenital, Autosomal Recessive 11

Autosomal Recessive Congenital Ichthyosis 11	Ichthyosis With Hypotrichosis, Autosomal Recessive
Arih	Ichthyosis And Follicular Atrophoderma With Hypotrichosis And Hypohidrosis
Autosomal Recessive Ichthyosis With Hypotrichosis	ARCI11
Ifah	Hypotrichosis-Congenital Ichthyosis Syndrome
Ichthyosis-Follicular Atrophoderma-Hypotrichosis Syndrome	Ichthyosis-Follicular Atrophoderma-Hypotrichosis-Hypohidrosis Syndrome
Ichthyosis-Hypotrichosis Syndrome	Ifah Syndrome
Ihs

Psoriasis

Legume Allergy

Fabaceae Allergy

Fruit Allergy

Allergy To Fruit

Contact Dermatitis

Contact Dermatitis/Eczema	Contact Eczema
Dermatitis Venenata	Dermatitis, Venenata
Dermatitis Contact	Dermatitis, Contact

Allergic Contact Dermatitis

Dermatitis, Allergic Contact	Contact Dermatitis, Allergic
Dermatitis Allergic Contact	Allergic Contact Eczema
Acd - [Allergic Contact Dermatitis]	Allergic Contact Dermatitis, Unspecified Cause
Allergic Dermatitis	Allergic Eczema
Allergy Dermatitis	Allergy Eczema
Allergic Contact Eczema Due To Clothing Or Footwear	Perfume Allergic Contact Dermatitis
Allergic Contact Dermatitis Due To Cosmetics	Allergic Contact Eczema Due To Cosmetics Or Fragrances
Allergic Contact Eczema Due To Dental Materials	Allergic Contact Eczema Due To Food Flavours Or Additives
Allergic Contact Eczema Due To Hairdressing Products	Allergic Contact Eczema Due To Metals Or Metal Salts
Allergic Contact Eczema Due To Proteins	Allergic Contact Eczema Due To Plastics Or Resin Systems
Allergic Contact Eczema Due To Preservatives Or Biocides	Allergic Contact Eczema Due To Rubber Chemicals
Rubber Dermatitis	Allergic Contact Eczema Due To Systemic Medicaments
Allergic Contact Eczema Due To Topical Medicaments	Allergic Contact Dermatitis Due To Drugs In Contact With Skin

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

Omenn Syndrome

Histiocytic Medullary Reticulosis	Severe Combined Immunodeficiency With Hypereosinophilia
Combined Immunodeficiency With Hypereosinophilia	Reticuloendotheliosis, Familial, With Eosinophilia
Reticuloendotheliosis Familial With Eosinophilia	Familial Reticuloendotheliosis
Omenn'S Syndrome	OS
Malignant Histiocytosis

Esophagitis, Eosinophilic, 1

Eosinophilic Esophagitis	EOE1
Esophagitis, Eosinophilic	Ee

Hyper Ige Syndrome

Hyper-Ige Syndrome	Hyper Immunoglobulin E Syndrome
Hies	Hyper-Ige Recurrent Infection Syndrome
Hyperimmunoglobulin E Syndrome	Hyper Ige
Job Syndrome	Hartnup Disease

Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

Olmsted Syndrome	Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques
Palmoplantar And Periorificial Keratoderma	Olms

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13682	SPINK5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SPINK5	VGNC	VGNC:35220
Macaca mulatta	SPINK5	VGNC	VGNC:84503
Mus musculus	SPINK5	MGD	MGI:1919682
Rattus norvegicus	SPINK5	RGD	RGD:1306540
Canis familiaris	SPINK5	VGNC	VGNC:46745
Felis catus	SPINK5	VGNC	VGNC:102329