COL5A1 - collagen type V alpha 1 chain Gene

中文名称：V 型胶原α1 链

种属: Homo sapiens

同用名: EDSC; FMDMF; EDSCL1

基因 ID: 1289 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种低丰度纤维状胶原蛋白的α链。纤维状胶原蛋白分子是由一种或多种类型的 α 链组成的三聚体。 V 型胶原蛋白存在于含有 I 型胶原蛋白的组织中，似乎可以调节由 I 型和 V 型胶原蛋白组成的异型纤维的组装。该基因产物与 XI 型胶原蛋白密切相关，并且 V 型和 XI 型胶原蛋白链可能构成具有组织特异性链组合的单一胶原蛋白类型。编码的前胶原蛋白通常以异源三聚体 pro-alpha1 (V) -pro-alpha1 (V) -pro-alpha2 (V) 的形式出现。该基因的突变与 I 型和 II 型 Ehlers-Danlos 综合征有关。该基因的可变剪接导致多个转录变体。[RefSeq 提供，2013 年 5 月]

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 基因产物(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

COL5A1 蛋白结构

Laminin_G_2

Collagen

COLFI

0
300
600
900
1200
1500
1838 a.a.

蛋白主名

其他名称

collagen alpha-1(V) chain

collagen, type V, alpha 1

关联疾病

疾病名称

别名

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

直系同源

种属	基因名	来源	基因 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

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COL5A1 - collagen type V alpha 1 chain Gene

关于 COL5A1

功能概要

COL5A1 基因产物(2)

COL5A1 蛋白结构

关联疾病

直系同源

热门区域

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COL5A1 - collagen type V alpha 1 chain Gene

关于 COL5A1

功能概要

COL5A1 基因产物(2)

COL5A1 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

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