1. Gene
  2. COL7A1 - collagen type VII alpha 1 chain Gene

COL7A1 - collagen type VII alpha 1 chain Gene

Homo sapiens

Also known as EBD1; EBR1; EBDCT; NDNC8

Gene ID: 1294 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
19269366 GOA
Biological Process GO Annotation Evidence Reference 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

VWA: von Willebrand factor type A domain (38 - 203)

fn3

fn3: Fibronectin type III domain (233 - 316)

fn3

fn3: Fibronectin type III domain (332 - 405)

fn3

fn3: Fibronectin type III domain (427 - 487)

fn3

fn3: Fibronectin type III domain (509 - 585)

fn3

fn3: Fibronectin type III domain (600 - 675)

fn3

fn3: Fibronectin type III domain (688 - 763)

fn3

fn3: Fibronectin type III domain (779 - 853)

fn3

fn3: Fibronectin type III domain (869 - 944)

fn3

fn3: Fibronectin type III domain (962 - 1030)

VWA

VWA: von Willebrand factor type A domain (1069 - 1224)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1252 - 1309)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1296 - 1354)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1452 - 1504)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1489 - 1547)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1880 - 1937)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1985 - 2040)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (2034 - 2092)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (2101 - 2157)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (2158 - 2214)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (2257 - 2316)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (2324 - 2372)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (2374 - 2429)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (2407 - 2464)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (2466 - 2522)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (2527 - 2581)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (2563 - 2621)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (2634 - 2677)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (2722 - 2782)

Kunitz_BPTI

Kunitz_BPTI: Kunitz/Bovine pancreatic trypsin inhibitor domain (2875 - 2929)

  • 0
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  • 2500
  • 2944 a.a.
Protein Preferred Names Protein Names

collagen alpha-1(VII) chain

LC collagen

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

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