COL17A1 - collagen type XVII alpha 1 chain Gene

中文名称：XVII 型胶原蛋白 alpha 1 链

种属: Homo sapiens

同用名: ERED; JEB4; BP180; BPA-2; BPAG2; LAD-1; BA16H23.2

基因 ID: 1308 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 XVII 型胶原蛋白的α链。与大多数胶原蛋白不同，胶原蛋白 XVII 是一种跨膜蛋白。胶原蛋白 XVII 是半桥粒的结构成分，半桥粒是位于真皮-表皮基底膜区的多蛋白复合物，可介导角质形成细胞与下层膜的粘附。该基因的突变与全身性萎缩性良性和交界性大疱性表皮松解症有关。存在两种同源三聚体形式的 XVII 型胶原蛋白。全长形式是跨膜蛋白。一种可溶性形式，称为胞外域或 LAD-1，是通过全长形式的蛋白水解加工产生的。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

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

COL17A1 蛋白结构

Collagen

0
300
600
900
1200
1497 a.a.

蛋白主名

其他名称

collagen alpha-1(XVII) chain

180 kDa bullous pemphigoid antigen 2

关联疾病

疾病名称

别名

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

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

直系同源

种属	基因名	来源	基因 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