COL5A1 - collagen type V alpha 1 chain Gene

Also Known as EDSC; FMDMF; EDSCL1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1289

About COL5A1

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:134,641,803-134,844,843 (from NCBI)

This gene has 7 transcripts (splice variants), 218 orthologues, 37 paralogues and is associated with 5 phenotypes. Broad expression in placenta (RPKM 45.0), endometrium (RPKM 38.1) and 16 other tissues.

Summary

This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar Collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V Collagen is found in tissues containing type I Collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V Collagen. This gene product is closely related to type XI Collagen and it is possible that the Collagen chains of types V and XI constitute a single Collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

COL5A1 Products (2)

mRNA	Protein	Name
NM_000093.5	NP_000084.3	collagen alpha-1(V) chain isoform 1 preproprotein
NM_001278074.1	NP_001265003.1	collagen alpha-1(V) chain isoform 2 preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables heparin binding	IDA IDA: Inferred from direct assay	2203476	GOA
enables platelet-derived growth factor binding	IDA IDA: Inferred from direct assay	8900172	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20979576	GOA
enables proteoglycan binding	IPI IPI: Inferred from physical interaction	9099729	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cell adhesion	IMP IMP: Inferred from mutant phenotype	18305566	GOA
involved in cell migration	IMP IMP: Inferred from mutant phenotype	18305566	GOA
involved in collagen biosynthetic process	IMP IMP: Inferred from mutant phenotype	11278977	GOA
involved in collagen fibril organization	IMP IMP: Inferred from mutant phenotype	9683580	GOA
involved in eye morphogenesis	IMP IMP: Inferred from mutant phenotype	16431952	GOA
involved in integrin biosynthetic process	IMP IMP: Inferred from mutant phenotype	18305566	GOA
involved in negative regulation of endodermal cell differentiation	IDA IDA: Inferred from direct assay	23154389	GOA
involved in skin development	IMP IMP: Inferred from mutant phenotype	9683580	GOA
involved in supramolecular fiber organization	IMP IMP: Inferred from mutant phenotype	14970208	GOA
involved in wound healing, spreading of epidermal cells	IMP IMP: Inferred from mutant phenotype	18305566	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of collagen type V trimer	IMP IMP: Inferred from mutant phenotype	9683580	GOA
located in collagen-containing extracellular matrix	IMP IMP: Inferred from mutant phenotype	14970208	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

COL5A1 Protein Structure

Laminin_G_2

Collagen

COLFI

0
300
600
900
1200
1500
1838 a.a.

Protein Preferred Names	Protein Names
collagen alpha-1(V) chain	collagen, type V, alpha 1

COL5A1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	COL5A1	P20908	MMP2	Homo sapiens	P08253	Anti Bait CoIP	20979576
Intra	COL5A1	P20908	FN1	Homo sapiens	P02751-1	Anti Bait CoIP	20979576
Intra	COL5A1	P20908	TIMP1	Homo sapiens	P01033	Y2H	20979576
Intra	COL5A1	P20908	TIMP1	Homo sapiens	P01033	Anti Bait CoIP	20979576
Intra	COL5A1	P20908	PCOLCE	Homo sapiens	Q15113	Y2H	20979576
Intra	COL5A1	P20908	PCOLCE	Homo sapiens	Q15113	SPR	20979576
Intra	COL5A1	P20908	TNC	Homo sapiens	P24821	Anti Bait CoIP	20979576

Cross: Cross-species interaction Intra: Intraspecies interaction

COL5A1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86818	COL5A1 Antibody (YA6511)	WB, ICC/IF, FC, IP	Human

Related Diseases

Diseases	Alias
Ehlers-Danlos Syndrome, Classic Type, 1	Ehlers-Danlos Syndrome, Type I EDSCL1 Ehlers-Danlos Syndrome Classic Type 1 Ehlers-Danlos Syndrome Type 1 Ehlers-Danlos Syndrome, Type I, Formerly Eds1, Formerly Ehlers-Danlos Syndrome, Severe Classic Type, Formerly Eds I, Formerly Ehlers-Danlos Syndrome, Gravis Type, Formerly Ehlers-Danlos Syndrome, Type 1 Type I Ehlers-Danlos Syndrome Eds1 Eds I Ehlers-Danlos Syndrome, Gravis Type Ehlers-Danlos Syndrome, Severe Classic Type Ehlers-Danlos Syndrome 1 Ehlers-Danlos, Classic Syndrome, Type 1 Ehlers-Danlos Syndrome Type 2
Fibromuscular Dysplasia, Multifocal	FMDMF
Classic Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome, Classic Type Classical Ehlers-Danlos Syndrome Eds, Classic Type Ehlers-Danlos Syndrome Type 1 Ehlers-Danlos Syndrome Type 2 Classical Eds Ceds Ehlers-Danlos Syndrome, Type 2
Ehlers-Danlos Syndrome, Classic Type, 2	Ehlers-Danlos Syndrome, Type Ii EDSCL2 Ehlers-Danlos Syndrome, Type Ii, Formerly Eds2, Formerly Ehlers Danlos Syndrome, Mild Classic Type, Formerly Eds Ii, Formerly Ehlers Danlos Syndrome, Mitis Type, Formerly Ehlers-Danlos Syndrome Classic Type 2 Eds2 Eds Ii Ehlers-Danlos Syndrome 2 Ehlers-Danlos Syndrome Mild Classic Type Ehlers-Danlos Syndrome Mitis Type Ehlers-Danlos, Classic Syndrome, Type 2 Ehlers-Danlos Syndrome Type 2
Ehlers-Danlos Syndrome	Eds Cutis Hyperelastica Elastic Skin Ehlers-Danlos Syndromes Ed Syndrome Ehlers Danlos Syndrome Ehlers Danlos Disease Eds - [Ehlers-Danlos Syndrome]
Pneumothorax	Pneumothorax Nos Air Leak Nos Pleural Air Leak Nos
Fibromuscular Dysplasia
Nail-Patella Syndrome	Turner-Kieser Syndrome Onychoosteodysplasia Fong Disease NPS Hereditary Onycho-Osteodysplasia Nps1 Hereditary Onychoostedysplasia Iliac Horn Syndrome Nail Patella Syndrome Turner-Kiser Syndrome Arthro-Onychodysplasia Nps 1 Osteo-Onychodysplasia Hereditary Osteo-Onychodysplasia Osterreicher Syndrome Pelvic Horn Syndrome Österreicher-Turner Syndrome Nps - [Nail-Patella Syndrome] Hood - [Hereditary Onycho-Osteodysplasia] Syndrome
Paine Syndrome	Pain Disorder Pain Microcephaly With Spastic Diplegia Pain Syndrome
Inguinal Hernia	Hernia Inguinal Hernia, Inguinal Inguinal Hernias Bubonocele Indirect Inguinal Hernia Direct Inguinal Hernia Oblique Inguinal Hernia Scrotal Hernia Ih - [Inguinal Hernia]
Orthostatic Intolerance	Mitral Valve Prolapse Neurocirculatory Asthenia Mitral Valve Prolapse Syndrome Irritable Heart Systolic Click-Murmur Syndrome Soldiers Heart Cardiovascular Malfunction Arising From Mental Factors Cardiovascular Neurosis Da Costa'S Syndrome Krishaber'S Disease Barlow'S Syndrome Floppy Mitral Valve Mitral Leaflet Syndrome Myxomatous Mitral Valve Prolapse Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency Orthostatic Intolerance Due To Net Deficiency Pots Due To Net Deficiency OI Intolerance, Orthostatic Mitral Valve Prolapse, Familial, X-Linked Ballooning Mitral Valve Barlow Syndrome Flail Mitral Leaflet Myxomatous Mitral Valve Mitral Valve Prolapse-Click Syndrome Prolapsing Mitral Valve Leaflet Syndrome Billowing Mitral Valve Leaflet Posterior Mitral Leaflet Deformity Ballooning Posterior Leaflet Syndrome Blue Valve Syndrome Floppy Mitral Valve Syndrome Mitral Valvular Prolapse Systolic Click Syndrome
Gastroesophageal Reflux	Gastroesophageal Reflux Disease Gerd GER Gastroesophageal Reflux, Pediatric Acid Reflux Gastresophageal Reflux Gastro-Esophageal Reflux Gerd - Gastro-Esophageal Reflux Disease
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Clubfoot	Congenital Talipes Equinovarus Congenital Clubfoot Congenital Equinovarus Equinovarus Deformity Of Foot Club Foot
Cutis Laxa	Generalized Elastolysis Loose Skin Dermatolysis Dermatomegaly Cutis Laxa Syndrome
Tendinopathy
Talipes Equinovarus	Congenital Equinovarus Congenital Talipes Equinovarus Equinovarus Congenital Varus Clubfoot
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	CCF Familial Clubfoot Due To 5q31 Microdeletion Familial Clubfoot Due To Pitx1 Point Mutation Hereditary Clubfoot Due To Pitx1 Point Mutation Hereditary Clubfoot Due To 5q31 Microdeletion Talipes Equinovarus Tev Clubfoot, Congenital, With/Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Hypermobile Ehlers-Danlos Syndrome	Heds Ehlers-Danlos Syndrome Type 3 Ehlers-Danlos Syndrome Hypermobility Type Hypermobile Eds Joint Hypermobility Benign Joint Hypermobility Syndrome Eds Hypermobility Type Eds Type Iii Ehlers-Danlos Syndrome Type Iii Joint Hypermobility Syndrome Eds3 Ehlers-Danlos Syndrome, Hypermobility Type Eds Iii Eds-Ht
Aortic Aneurysm, Familial Thoracic 4	AAT4 Faa4 Aortic Aneurysm/Aortic Dissection And Patent Ductus Arteriosus Familial Aortic Aneurysm 4 Non-Syndromic Thoracic Aortic Aneurysms And Dissection Taad Thoracic Aortic Aneurysms And Dissection Thoracic Aortic Aneurysms And Dissections Aneurysm, Aortic, Thoracic, Familial, Type 4
Aortic Aneurysm, Familial Thoracic 1	Thoracic Aortic Aneurysm Annuloaortic Ectasia Familial Thoracic Aortic Aneurysm And Aortic Dissection Familial Aortic Dissection Familial Taad Familial Thoracic Aortic Aneurysm Congenital Aneurysm Of Ascending Aorta Familial Aortic Aneurysm Familial Thoracic Aortic Aneurysm And Dissection Aortic Aneurysm, Thoracic AAT1 Faa1 Aortic Dissection, Familial Aortic Aneurysm, Familial Thoracic Aneurysm, Thoracic Aortic Faa Ftaad Taa Taad Cystic Medial Necrosis Of Aorta Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection Aortic Aneurysm Thoracic Familial Aortic Aneurysms Aneurysm, Aortic, Thoracic, Familial, Type 1 Aneurysm Of Thoracic Aorta Intrathoracic Aneurysm Thoracic Aorta Aneurysm Thoracic Aortic Aneurysm Without Rupture Thoracic Aneurysm Thorax Arterial Aneurysm Thoracic Artery Aneurysm Thoracic Arterial Aneurysm Thorax Aneurysm Thorax Aortic Aneurysm Dissection Of Thoracic Aorta
Caspase 8 Deficiency	Autoimmune Lymphoproliferative Syndrome Type 2b Caspase-8 Deficiency Ceds Alps2b Autoimmune Lymphoproliferative Syndrome, Type Iib Alps With Recurrent Viral Infections Autoimmune Lymphoproliferative Syndrome With Recurrent Viral Infections Caspase 8 Deficiency Syndrome Caspase 8 Lymphadenopathy Syndrome Autoimmune Lymphoproliferative Syndrome Type Iib Caspase Eight Deficiency State CASP8D
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Carpal Tunnel Syndrome	Cts Carpal Tunnel Syndrome, Familial Carpal Tunnel Syndrome 1 CTS1 Amyotrophy, Thenar, Of Carpal Origin Carpal Tunnel Median Neuropathy Cts - Carpal Tunnel Syndrome Median Nerve Entrapment Carpal Canal Carpal Tunnel Compression Neuropathy, Carpal Tunnel Distal Median Nerve Compression Distal Median Nerve Entrapment Entrapment Neuropathy, Carpal Tunnel Median Neuropathy, Carpal Tunnel Median Neuropathy Carpal Tunnel Thenar Amyotrophy Of Crapal Origin
Hypermobility Syndrome	Benign Joint Hypermobility
Collagen Disease	Collagen Diseases Collagen Disorder
Epicondylitis	Tennis Elbow Lateral Epicondylitis Golfer'S Elbow Medial Epicondylitis Andrel Epicondylitis Archer'S Elbow Hockey Elbow Shooter'S Elbow
Keratoconus	Kc Conical Cornea Noninflammatory Corneal Thining Bulging Cornea Cornea Conical Acquired Conus Of Cornea
Fibrochondrogenesis 2	FBCG2 Fibrochondrogenesis, Type 2
Aortic Valve Disease 1	Aortic Valve Disease Bicuspid Aortic Valve Aortic Valve Disorder AOVD1 Bav Bicuspid Aortic Valve Disease Familial Bicuspid Aortic Valve Aortic Valve Calcification Aovd Aortic Valve, Bicuspid Aortic Valve, Calcification Of Aortic Stenosis, Calcific Familial Bav Calcific Aortic Stenosis Calcification Of Aortic Valve Abnormality Of The Aortic Valve Aortic Valve Disease, Type 1 Aortic Valve Disease 2 Bicommissural Aortic Valve
Corneal Ectasia
Pseudopterygium
Marshall Syndrome	MRSHS Deafness, Myopia, Cataract, Saddle Nose-Marshall Type Periodic Fever, Aphthous Stomatitis, Pharyngitis And Adenitis Pfapa Syndrome Pfapa Marshall Syndrome With Periodic Fever Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome
Stickler Syndrome, Type I	Stickler Syndrome 1 Stickler Syndrome Type 1 STL1 Aom Stickler Syndrome, Type 1 Stickler Syndrome, Vitreous Type 1 Stickler Syndrome, Membranous Vitreous Type Arthroophthalmopathy, Hereditary Progressive Arthro-Ophthalmopathy Hereditary Progressive Stickler Syndrome Membranous Vitreous Type Stickler Syndrome Type I Stickler Syndrome Vitreous Type 1
Tricuspid Valve Prolapse
Ehlers-Danlos Syndrome, Hypermobility Type	Ehlers-Danlos Syndrome, Type 3 Ehlers-Danlos Syndrome, Type Iii EDSHMB Eds Iii Benign Hypermobility Syndrome Ehlers-Danlos Syndrome Hypermobility Type Eds3 Type Iii Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome Type 3 Es-D3
Loeys-Dietz Syndrome	Loeys-Dietz Aortic Aneurysm Syndrome Lds Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies Furlong Syndrome
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
Irregular Astigmatism
Cervical Incompetence	Uterine Cervical Incompetence
Postural Orthostatic Tachycardia Syndrome	Irritable Heart Mitral Valve Prolapse Syndrome Neurocirculatory Asthenia Orthostatic Intolerance Due To Net Deficiency Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency Orhtostatic Intolerance Postural Tachycardia Syndrome Due To Net Deficiency Soldiers Heart
Osteogenesis Imperfecta, Type Ii	Vrolik Type Of Osteogenesis Imperfecta Osteogenesis Imperfecta Type 2 OI2 Oi, Type Ii Osteogenesis Imperfecta Congenita Oic Osteogenesis Imperfecta Type Ii Lethal Osteogenesis Imperfecta Oi Type 2 Osteogenesis Imperfecta Congenita Perinatal Lethal Form Osteogenesis Imperfecta Congenita, Perinatal Lethal Form Perinatal Lethal Osteogenesis Imperfecta Congenita Perinatally Lethal Oi Osteogenesis Imperfecta 2 Oi-Ii Oi-Iia Oi Type Iia Osteogenesis Imperfecta Type Iia Osteogenesis Imperfecta Type Ii Autosomal Dominant Oi Type Ii Osteogenesis Imperfecta, Dominant Perinatal Lethal
Arterial Tortuosity Syndrome	Arterial Tortuosity Ats ATORS Tortuosity, Arterial, Syndrome
Fibrochondrogenesis	Fbcg1 Fbcg2 Fibrochondrogenesis-1 Fibrochondrogenesis-2 Fibrochondrogenesis 1 Fibrochondrogenesis 2
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness
Autoimmune Lymphoproliferative Syndrome	ALPS Canale-Smith Syndrome Autoimmune Lymphoproliferative Syndrome, Type Ia Autoimmune Lymphoproliferative Syndrome, Type Ib Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant Css Autoimmune Lymphoproliferative Syndrome, Type 1b Autoimmune Lymphoproliferative Syndrome, Type 1a Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant Fas Deficiency Autoimmune Lymphoproliferative Syndrome 1a ALPS1A Autoimmune Lymphoproliferative Syndrome Type Ia Autoimmune Lymphoproliferative Syndrome 1b ALPS1B Autoimmune Lymphoproliferative Syndrome Type Ib
Aortic Dissection
Amebiasis	Amoebiasis Entamoebiasis Chronic Intestinal Amebiasis Amoebiasis, Unspecified Amebic Colitis Amoebic Enteritis Infection Due To Entamoeba Histolytica Amoebic Infection Disease Due To Endamoebidae Amoebiasis Nos
Preterm Premature Rupture Of The Membranes	Preterm Premature Rupture Of Membranes PPROM Preterm Premature Rupture Of The Membranes, Susceptibility To Pprom - [Preterm Premature Rupture Of Membranes] Preterm Rupture Of Membranes
Fuchs' Endothelial Dystrophy	Fuchs Endothelial Corneal Dystrophy Fuchs Endothelial Dystrophy Fuchs Dystrophy Fced Fuchs' Corneal Dystrophy Fuchs' Endothelial Corneal Dystrophy Fuchs Atrophy Fuchs Corneal Dystrophy Endoepithelial Corneal Dystrophy Fecd Late Hereditary Endothelial Dystrophy Corneal Dystrophy, Fuchs Endothelial Dystrophy, Corneal, Fuchs Endothelial Corneal Dystrophy, Fuchs' Endothelial, 1
Glaucoma, Primary Open Angle	Glaucoma 1, Open Angle, E Primary Open Angle Glaucoma POAG Adult-Onset Primary Open Angle Glaucoma Chronic Simple Glaucoma GLC1E Primary Open Angle Glaucoma 1e Glaucoma, Open Angle, Primary
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02989	COL5A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20541	Col5a1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27049	Col5a1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	COL5A1	VGNC	VGNC:102915
Rattus norvegicus	COL5A1	RGD	RGD:70920
Canis familiaris	COL5A1	VGNC	VGNC:51943
Bos taurus	COL5A1	VGNC	VGNC:58369
Mus musculus	COL5A1	MGD	MGI:88457
Macaca mulatta	COL5A1	VGNC	VGNC:103252
Others	COL5A1	NCBI