SPINK5 - serine peptidase inhibitor Kazal type 5 Gene

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

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 11005

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	参考文献	由来
enables serine-type endopeptidase inhibitor activity	IDA IDA: Inferred from direct assay	10419450	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in epidermal cell differentiation	IDA IDA: Inferred from direct assay	12915442	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
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

SPINK5 抗体

製品番号	製品名	アプリケーション	反応性
HY-P82301	SPINK5 Antibody (YA2046)	WB	Human
HY-P82301A	SPINK5 Antibody (YA2046)(PBS only)	WB	Human

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS13682	SPINK5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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