COL17A1 - collagen type XVII alpha 1 chain Gene

Also Known as ERED; JEB4; BP180; BPA-2; BPAG2; LAD-1; BA16H23.2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1308

About COL17A1

Cytogenetic location: 10q25.1 Genomic coordinates (GRCh38): 10:104,031,286-104,085,880 (from NCBI)

This gene has 10 transcripts (splice variants), 99 orthologues, 37 paralogues and is associated with 8 phenotypes. Biased expression in skin (RPKM 286.9), colon (RPKM 25.5) and 2 other tissues.

Summary

This gene encodes the alpha chain of type XVII Collagen. Unlike most collagens, Collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII Collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]

COL17A1 Products (1)

mRNA	Protein	Name
NM_000494.4	NP_000485.3	collagen alpha-1(XVII) chain

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12482924	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in hemidesmosome assembly	IDA IDA: Inferred from direct assay	12482924	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in hemidesmosome	IDA IDA: Inferred from direct assay	12482924	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

COL17A1 Protein Structure

Collagen

0
300
600
900
1200
1497 a.a.

Protein Preferred Names	Protein Names
collagen alpha-1(XVII) chain	180 kDa bullous pemphigoid antigen 2

COL17A1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	COL17A1	Q9UMD9	PPIL1	Homo sapiens	Q9Y3C6	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

COL17A1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83014	Collagen XVII alpha 1 Antibody (YA2759)	WB, IHC-P, ICC/IF, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Epithelial Recurrent Erosion Dystrophy	ERED Corneal Erosions, Recurring Hereditary Col17a1 Dystrophia Helsinglandica Dystrophia Smolandiensis Recurrent Hereditary Corneal Erosions Rces Recurrent Corneal Erosion Syndrome Recurrent Erosion Of Cornea
Epidermolysis Bullosa, Junctional 4, Intermediate	Gabeb JEB4 Epidermolysis Bullosa, Junctional 4, Non-Herlitz Type Epidermolysis Bullosa, Generalized Atrophic Benign Epidermolysis Bullosa, Junctional, Localisata Variant
Epidermolysis Bullosa, Junctional 1a, Intermediate	Jeb-I JEB1A Epidermolysis Bullosa Junctionalis, Disentis Type Junctional Epidermolysis Bullosa Inversa Generalized Atrophic Benign Epidermolysis Bullosa Epidermolysis Bullosa, Junctional 1a, Generalized Intermediate Epidermolysis Bullosa, Junctional 1a, Non-Herlitz Type Epidermolysis Bullosa Junctionalis, Non-Herlitz Type Epidermolysis Bullosa Junctionalis, Progressive Epidermolysis Bullosa Junctionalis, Severe Nonlethal Localized Junctional Epidermolysis Bullosa Jeb-Nh Loc Junctional Epidermolysis Bullosa, Non-Herlitz Localized Type Localized Jeb Intermediate Generalized Junctional Epidermolysis Bullosa Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type Intermediate Generalized Jeb Junctional Epidermolysis Bullosa Generalisata Mitis Junctional Epidermolysis Bullosa, Disentis Type Jeb Inversa Epidermolysis Bullosa Atrophicans Generalisata Mitis Epidermolysis Bullosa Junctionalis Disentis Type Epidermolysis Bullosa Junctionalis Progressive Epidermolysis Bullosa Junctionalis Severe Non-Lethal Gabeb Generalized Junctional Epidermolysis Bullosa Mitis Non-Herlitz Junctional Epidermolysis Bullosa Epidermolysis Bullosa Inversa Dystrophica
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Late-Onset Junctional Epidermolysis Bullosa	Epidermolysis Bullosa Progressiva Jeb-Lo Late-Onset Jeb
Junctional Epidermolysis Bullosa Non-Herlitz Type	Junctional Epidermolysis Bullosa, Non-Herlitz Type Gabeb Generalized Atrophic Benign Epidermolysis Bullosa Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type Jeb-Nh Gen Jen-Nh Junctional Epidermolysis Bullosa Generalisata Mitis Junctional Epidermolysis Bullosa, Disentis Type Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Nail Disorder, Nonsyndromic Congenital, 4	Anonychia Congenita Anonychia Hyponychia Congenita NDNC4 Anonychia/Hyponychia Congenita Nonsyndromic Congenital Nail Disorder 4 Isolated Congenital Anonychia Anonychia Congenita Totalis Anonychia Totalis Autosomal Recessive Nonsyndromic Congenital Nail Disorder-4 Congenital Anonychia Nonsyndromic Congenital Nail Disorder, 4 Absent Nails Aplastic Nails Congenital Absence Of Nails Isolated Anonychia Nail Disorder, Non-Syndromic Congenital, 4 Nail Disorder, Nonsyndromic, Congenital, Type 4
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
Constipation
Pemphigoid Gestationis	Herpes Gestationis Gestational Pemphigoid Gestational Herpes
Cicatricial Pemphigoid	Mucous Membrane Pemphigoid Ocular Pemphigoid Benign Mucous Membrane Pemphigoid Benign Mucous Membrane Pemphigoid With Ocular Involvement Benign Mucosal Pemphigoid Pemphigoid, Benign Mucous Membrane Cicatricial Pemphigoid With Ocular Involvement Ocular Pemphigus Cicatricial Pemphigoid Disease Mucosal Pemphigoid Mucosynechial Pemphigoid Pemphigoid Cicatricial Cicatricial Pemphigoid Involving The Eye Ocular Cicatricial Pemphigoid
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
Bullous Pemphigoid	Benign Pemphigus Senile Dermatitis Herpetiformis Old Age Pemphigus Parapemphigus Pemphigoid Pemphigoid Bullous Pemphigoid, Bullous
Lichen Planus	Lichen Ruber Planus Lichen, Ruber Planus Ruber Planus Lp - [Lichen Planus] Lichen Planus Of Wilson Wilson Lichen Ruber
Pemphigoid
Epidermolysis Bullosa	Acantholysis Bullosa Eb
Bullous Skin Disease	Skin Diseases Bullous Skin Diseases, Bullous
Epidermolysis Bullosa Simplex	Ebs Epidermolysis Bullosa Intraepidermic Epidermolytic Epidermolysis Bullosa
Epidermolysis Bullosa Acquisita	Acquired Epidermolysis Bullosa Eb Acquisita Eba Eba - [Epidermolysis Bullosa Acquisita]
Kindler Syndrome	Poikiloderma Of Kindler Bullous Acrokeratotic Poikiloderma Of Kindler And Weary Congenital Bullous Poikiloderma KNDLRS Poikiloderma, Hereditary Acrokeratotic Poikiloderma, Congenital, With Bullae, Weary Type Kindler'S Syndrome Poikiloderma Congenital With Bullae Weary Type Hereditary Acrokeratotic Poikiloderma Of Kindler-Weary Hereditary Acrokeratotic Poikiloderma Weary Syndrome Poikiloderma Hereditary Acrokeratotic Potassium Deficiency
Corneal Dystrophy
Pemphigus Gestationis
Pemphigus
Amelogenesis Imperfecta	Ai Congenital Enamel Hypoplasia Al - [Amelogenesis Imperfecta]
Neurotic Excoriation	Factitious Skin Disease Dermatitis Artefacta Dermatitis Factitia Dermatitis Ficta
Pyloric Atresia
Lichen Disease
Epidermolysis Bullosa, Junctional 5b, With Pyloric Atresia	Junctional Epidermolysis Bullosa With Pyloric Atresia Carmi Syndrome Epidermolysis Bullosa, Junctional, With Pyloric Atresia Jeb-Pa JEB5B Epidermolysis Bullosa Junctionalis With Pyloric Atresia Aplasia Cutis Congenita With Gastrointestinal Atresia Epidermolysis Bullosa, Junctional, With Pyloric Atresia And Aplasia Cutis Congenita Eb-Pa-Acc Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome Jeb With Pyloric Atresia Epidermolysis Bullosa Letalis, With Pyloric Atresia Pa-Jeb Epidermolysis Bullosa With Pyloric Atresia
Autoimmune Disease	Autoimmune Diseases Autoimmune Hypersensitivity Disease Hypersensitivity Reaction Type Ii Disease Type Ii Hypersensitivity Reaction Disease
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
Herpes Zoster	Shingles Zoster Herpes Zona Herpes Zoster Disease Zona Zoster Herpes Zoster Of Skin And Mucous Membranes Zoster Nos Zoster With Nervous System Involvement
Autoimmune Disease Of Skin And Connective Tissue
Paraneoplastic Pemphigus
Epithelial And Subepithelial Dystrophy
Epidermolysis Bullosa Dystrophica	Dystrophic Epidermolysis Bullosa Deb Dermolytic Epidermolysis Bullosa Epidermolysis Bullosa, Dermolytic Epidermolysis Bullosa, Dystrophic Epidermolysis Bullosa Dystrophic Dystrophic Eb - [Epidermolysis Bullosa]
Iga Pemphigus
Acute Laryngopharyngitis	Pharyngolaryngitis Laryngopharyngitis Hypopharyngitis
Recurrent Corneal Erosion	Recurrent Erosion Of Cornea Recurrent Erosion Syndrome Corneal Erosion Non-Traumatic Recurrent Erosion Of Cornea
Epidermolysis Bullosa, Junctional 1b, Severe	Epidermolysis Bullosa, Junctional, Herlitz Type Epidermolysis Bullosa Letalis JEB1B Epidermolysis Bullosa Junctionalis, Herlitz Type Jeb-Herlitz Type Herlitz-Pearson-Type Epidermolysis Bullosa Junctional Epidermolysis Bullosa Herlitz Type Jeb-H Junctional Epidermolysis Bullosa Generalisata Gravis Junctional Epidermolysis Bullosa, Herlitz-Pearson Type Epidermolysis Bullosa, Junctional, Generalized Severe Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type Herlitz Type Epidermolysis Bullosa Junctionalis Severe Generalized Junctional Epidermolysis Bullosa Junctional Epidermolysis Bullosa, Herlitz Type Severe Generalized Jeb Epidermolysis Letalis Junctional Epidermolysis Bullosa Gravis Junctional Epidermolysis Bullosa Herlitz-Pearson Type Herlitz Disease
Epidermolysis Bullosa Simplex Generalized Type	Epidermolysis Bullosa Simplex, Koebner Type Epidermolysis Bullosa Simplex Koebner Type Epidermolysis Bullosa Simplex, Generalized Ebs, Generalized Ebs-K Epidermolysis Bullosa Simplex, Generalized Non-Dowling-Meara Generalized Ebs Epidermolysis Bullosa Simplex Kobner
Pseudomembranous Conjunctivitis
Pemphigus Vulgaris, Familial	Pemphigus Vulgaris Familial Pemphigus Vulgaris Pemphigus
Pompholyx	Dyshidrosis Vesicular Eczema Of Hands And/Or Feet Cheiropompholyx Dyshydrotic Eczema Eczema, Dyshidrotic Vesicular Hand Eczema
Scabies	Sarcoptic Itch Infestation By Sarcoptes Scabiei Infestation By Sarcoptes Scabiei Var Hominis Infestation By Sarcoptes Scabiei Var. Hominis
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
Mite Infestation	Mite Infestations Acariasis Infestation By Mites Nos
Epithelial Basement Membrane Dystrophy	Ebmd Corneal Dystrophy, Epithelial Basement Membrane Cogan Corneal Dystrophy Microcystic Corneal Dystrophy Anterior Basement Membrane Dystrophy Cogan Microcystic Epithelial Dystrophy Map-Dot-Fingerprint Dystrophy Microscopic Cystic Corneal Dystrophy
Integumentary System Disease
Autoimmune Disease Of Musculoskeletal System
Cardiomyopathy, Infantile Histiocytoid	Histiocytoid Cardiomyopathy Foamy Myocardial Transformation Of Infancy Infantile Histiocytoid Cardiomyopathy Infantile Xanthomatous Cardiomyopathy Oncocytic Cardiomyopathy Cardiomyopathy, Infantile Xanthomatous Cardiomyopathy, Focal Lipid Cardiomyopathy, Oncocytic Focal Lipid Cardiomyopathy Infantile Cardiomyopathy With Histiocytoid Change CMIH Cardiomyopathy Focal Lipid Cardiomyopathy Infantile Xanthomatous Cardiomyopathy Oncocytic
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-15898	Y-320		99.03%	Unkown
HY-RS02967	COL17A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	COL17A1	MGD	MGI:88450
Canis familiaris	COL17A1	VGNC	VGNC:39462
Rattus norvegicus	COL17A1	RGD	RGD:1311130
Bos taurus	COL17A1	VGNC	VGNC:27558
Felis catus	COL17A1	VGNC	VGNC:61053
Others	COL17A1	NCBI