COL7A1 - collagen type VII alpha 1 chain Gene

Also Known as EBD1; EBR1; EBDCT; NDNC8

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1294

About COL7A1

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:48,564,073-48,595,329 (from NCBI)

This gene has 11 transcripts (splice variants), 51 orthologues, 37 paralogues and is associated with 21 phenotypes. Biased expression in skin (RPKM 63.4), endometrium (RPKM 13.0) and 5 other tissues.

Summary

This gene encodes the alpha chain of type VII Collagen. The type VII Collagen fibril, composed of three identical alpha Collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII Collagen. [provided by RefSeq, Jul 2008]

COL7A1 Products (1)

mRNA	Protein	Name
NM_000094.4	NP_000085.1	collagen alpha-1(VII) chain precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19269366	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in endodermal cell differentiation	IEP IEP: Inferred from expression pattern	23154389	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

COL7A1 Protein Structure

VWA

fn3

VWA

Collagen

Kunitz_BPTI

0
500
1000
1500
2000
2500
2944 a.a.

Protein Preferred Names	Protein Names
collagen alpha-1(VII) chain	LC collagen

COL7A1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	COL7A1	Q02388	MIA3	Homo sapiens	Q5JRA6	Anti Bait CoIP	19269366

Cross: Cross-species interaction Intra: Intraspecies interaction

COL7A1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811171	Collagen 7 alpha 1 Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P89556	COL7A1 Antibody (YA8900)	WB, ICC/IF, IF-Tissue, IHC-P, IP	human

Related Diseases

Diseases	Alias
Epidermolysis Bullosa Pruriginosa	Dystrophic Epidermolysis Bullosa Pruriginosa Deb, Pruriginosa Deb Pruriginosa Deb-Pr Pruriginous Dystrophic Epidermolysis Bullosa EBP
Epidermolysis Bullosa Dystrophica, Pretibial	Epidermolysis Bullosa, Pretibial Pretibial Dystrophic Epidermolysis Bullosa Deb-Pt Dystrophic Epidermolysis Bullosa, Pretibial Deb, Pretibial Pretibial Epidermolysis Bullosa Pretibial Deb Localized Dystrophic Epidermolysis Bullosa, Pretibial Form Localized Deb, Pretibial Form Epidermolysis Bullosa Dystrophica, Pretibial Type PR-DEB
Transient Bullous Dermolysis Of The Newborn	TBDN Transient Bullous Of The Newborn Epidermolysis Bullosa Dystrophica, Neonatal Form Dystrophic Epidermolysis Bullosa, Neonatal Deb, Bullous Dermolysis Of The Newborn Deb-Bdn Epidermolysis Bullosa Dystrophica, Dominant Neonatal Form Self-Improving Dystrophic Epidermolysis Bullosa Self-Improving Deb Epidermolysis Bullosa Dystrophica Dominant Neonatal Type
Epidermolysis Bullosa Dystrophica, Autosomal Dominant	Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type Epidermolysis Bullosa Dystrophica, Pasini Type Epidermolysis Bullosa Dystrophica, Ad Autosomal Dominant Dystrophic Epidermolysis Bullosa Generalized Dominant Dystrophic Epidermolysis Bullosa DDEB Dystrophic Epidermolysis Bullosa, Autosomal Dominant Ebdct Albopapuloid Dominant Dystrophic Epidermolysis Bullosa Ebdd Dominant Dystrophic Epidermolysis Bullosa Autosomal Dominant Dystrophic Epidermolysis Bullosa, Pasini And Cockayne-Touraine Types Ddeb, Pasini And Cockayne-Touraine Types Ddeb, Generalized Ddeb-Gen Dominant Dystrophic Epidermolysis Bullosa, Generalized Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa Generalized Ddeb Epidermolysis Bullosa Dystrophica, With Subcorneal Cleavage EBDSC Cockayne-Touraine Disease Epidermolysis Bullosa Dystrophica With Subcorneal Cleavage
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Modifier Of RDEB Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type Ebr1 Epidermolysis Bullosa Dystrophica, Generalized Severe, Autosomal Recessive Ebd Inversa Dystrophic Epidermolysis Bullosa, Autosomal Recessive Epidermolysis Bullosa Dystrophica, Ar Recessive Dystrophic Epidermolysis Bullosa Inversa Rdeb Inversa Rdeb-I Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type Generalized Rdeb, Severe Form Rdeb Generalisata Gravis Rdeb, Hallopeau-Siemens Type Severe Generalized Rdeb Autosomal Recessive Dystrophic Epidermolysis Bullosa Hallopeau-Siemens Disease
Nail Disorder, Nonsyndromic Congenital, 8	Nonsyndromic Congenital Nail Disorder 8 Toenail Dystrophy, Isolated NDNC8 Isolated Toenail Dystrophy Nail Disorder, Non-Syndromic Congenital, 8 Isolated Toenail Dystrophy Without Skin Fragility Nail Disorder, Nonsyndromic Congenital, Type 8
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Epidermolysis Bullosa Dystrophica, Bart Type Ebd, Bart Type B-DEB Epidermolysis Bullosa, Congenital Localized Absence Of Skin And Nail Deformity
Epidermolysis Bullosa Dystrophica	Dystrophic Epidermolysis Bullosa Deb Dermolytic Epidermolysis Bullosa Epidermolysis Bullosa, Dermolytic Epidermolysis Bullosa, Dystrophic Epidermolysis Bullosa Dystrophic Dystrophic Eb - [Epidermolysis Bullosa]
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
Hyperpigmentation Of The Skin
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Mitis Autosomal Recessive Dystrophic Epidermolysis Bullosa, Non-Hallopeau-Siemens Type Generalized Rdeb, Intermediate Form Rdeb, Non-Hallopeau-Siemens Type
Localized Dystrophic Epidermolysis Bullosa, Nails Only	Localized Deb, Nails Only
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Localized Deb, Acral Form
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
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
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Epidermolysis Bullosa	Acantholysis Bullosa Eb
Thyroid Gland Disease	Abnormality Of The Thyroid Gland Thyroid Diseases
Epidermolysis Bullosa Acquisita	Acquired Epidermolysis Bullosa Eb Acquisita Eba Eba - [Epidermolysis Bullosa Acquisita]
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
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
Epidermolysis Bullosa Simplex Superficialis	EBSS
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
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Hepatoblastoma
Larsen Syndrome	LRS Larsen Syndrome, Dominant Type Dominant Larsen Syndrome Autosomal Dominant Larsen Syndrome Larsens Syndrome
Neurotic Excoriation	Factitious Skin Disease Dermatitis Artefacta Dermatitis Factitia Dermatitis Ficta
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
Epidermolysis Bullosa Simplex	Ebs Epidermolysis Bullosa Intraepidermic Epidermolytic Epidermolysis Bullosa
Bullous Skin Disease	Skin Diseases Bullous Skin Diseases, Bullous
Chiari Malformation
Nonsyndromic Congenital Nail Disorder	Nail Disorder, Nonsyndromic Congenital
Epidermolysis Bullosa Simplex 1a, Generalized Severe	Epidermolysis Bullosa Simplex, Dowling-Meara Type Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type EBS1A Ebsdm Epidermolysis Bullosa Simplex Dowling-Meara Type Epidermolysis Bullosa Simplex, Herpetiformis Ebs-Dm Epidermolysis Bullosa Simplex 1a, Dowling-Meara Type Ebs-Gen Sev Epidermolysis Bullosa Herpetiformis Dowling-Meara Type Generalized Severe Epidermolysis Bullosa Simplex Dowling-Meara Type Epidermolysis Bullosa Simplex Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form Autosomal Dominant Generalized Ebs, Severe Form Epidermolysis Bullosa Simplex Herpetiformis Dm-Ebs Epidermolysis Bullosa Simplex, Generalized Severe Epidermolysis Bullosa Herpetiformis, Dowling-Meara Epidermolysis Bullosa Herpetiformis Dowling-Meara
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia ANKG 'Tongue-Tie' Tongue-Tie Tongue Tie Aberrant Insertion Of Labial Frenulum Aberrant Insertion Of Frenum Of Tongue Short Frenulum Linguae Short Frenulum Of Tongue
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
Exposure Keratitis	Exposure Keratoconjunctivitis Lagophthalmic Keratitis
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, 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
Treacher Collins Syndrome 1	Treacher Collins Syndrome Mandibulofacial Dysostosis Treacher Collins-Franceschetti Syndrome Tcof Tcs Mfd1 Franceschetti-Klein Syndrome TCS1 Franceschetti Syndrome Franceschetti-Zwahlen-Klein Syndrome Zygoauromandibular Dysplasia Treacher-Collins Syndrome Mandibulofacial Dysostosis Without Limb Anomalies Bilateral And Symmetric Oto-Mandibular Dysplasia
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
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
Integumentary System Disease

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 (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02997	COL7A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-162862	JAK-IN-38		/	Unkown
HY-RS18704	Col7a1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25191	Col7a1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	COL7A1	VGNC	VGNC:27573
Canis familiaris	COL7A1	VGNC	VGNC:39483
Mus musculus	COL7A1	MGD	MGI:88462
Rattus norvegicus	COL7A1	RGD	RGD:1311417
Others	COL7A1	NCBI