1. Gene
  2. COL9A1 - collagen type IX alpha 1 chain Gene

COL9A1 - collagen type IX alpha 1 chain Gene

中文名称:IX 型胶原蛋白 alpha 1 链

种属: Homo sapiens

同用名: MED; EDM6; STL4; DJ149L1.1.2

基因 ID: 1297 | 基因类型: protein coding

关于 COL9A1

Cytogenetic location: 6q13 Genomic coordinates (GRCh38): 6:70,215,061-70,303,084 (from NCBI)

This gene has 16 transcripts (splice variants), 198 orthologues, 37 paralogues and is associated with 7 phenotypes. Biased expression in prostate (RPKM 6.1), testis (RPKM 1.3) and 6 other tissues.

功能概要

该基因编码 IX 型胶原蛋白的三个 α 链之一,它是透明软骨的次要 (5-20%) 胶原蛋白成分。 IX 型胶原蛋白通常存在于含有 II 型胶原蛋白 (一种纤维状胶原蛋白) 的组织中。对敲除小鼠的研究表明,α1 链的合成对于 IX 型胶原蛋白分子 (一种异源三聚体分子) 的组装至关重要,并且缺乏 IX 型胶原蛋白与早发性骨关节炎有关。该基因的突变与人类骨关节炎、多发性骨骺发育不良 6 (软骨发育不良的一种形式) 和斯蒂克勒综合征 (一种以眼科、口面部、关节和听觉缺陷为特征的疾病) 有关。已经为该基因鉴定了编码不同亚型的两种转录物变体。[RefSeq 提供,2008 年 7 月]

This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

COL9A1 基因产物(5)

mRNA Protein Name
NM_001377289.1 NP_001364218.1 collagen alpha-1(IX) chain isoform 3 precursor
NM_001377290.1 NP_001364219.1 collagen alpha-1(IX) chain isoform 4 precursor
NM_001377291.1 NP_001364220.1 collagen alpha-1(IX) chain isoform 5 precursor
NM_001851.6 NP_001842.3 collagen alpha-1(IX) chain isoform 1 precursor
NM_078485.4 NP_511040.2 collagen alpha-1(IX) chain isoform 2 precursor

COL9A1 蛋白结构

Collagen

Collagen: Collagen triple helix repeat (20 copies) (269 - 324)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (304 - 356)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (358 - 403)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (416 - 472)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (462 - 516)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (587 - 643)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (655 - 712)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (697 - 755)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (790 - 847)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (838 - 899)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 921 a.a.
蛋白主名 其他名称

collagen alpha-1(IX) chain

alpha-1(IX) collagen chain

重组 COL9A1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70009 Collagen alpha-1(IX) chain/COL9A1 Protein, Human (HEK293, His) P20849-3 (A24-G598) ≥95%

关联疾病

疾病名称 别名
Epiphyseal Dysplasia, Multiple, 6

Multiple Epiphyseal Dysplasia 6

EDM6

Dysplasia, Epiphyseal, Multiple, Type 6

Stickler Syndrome, Type Iv

STL4

Stickler Syndrome, Type 4

Stickler Syndrome 4

Connective Tissue Disease

Connective Tissue Diseases

Connective Tissue Disorder

Abnormality Of Connective Tissue

Disorder Of Connective Tissue

Connective Tissue Disorders

Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Autosomal Recessive Stickler Syndrome
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Multiple Epiphyseal Dysplasia

Med

Polyepiphyseal Dysplasia

Edm

Epiphyseal Dysplasia, Multiple, 1

Epiphyseal Dysplasia, Multiple, 2

Epiphyseal Dysplasia, Multiple, 3

Epiphyseal Dysplasia, Multiple, 4

Epiphyseal Dysplasia, Multiple, 5

Epiphyseal Dysplasia, Multiple

Edm1

Edm2

Edm3

Edm4

Edm5

Epiphyseal Dysplasia, Fairbank Type

Epiphyseal Dysplasia, Ribbing Type

Multiple Epiphyseal Dysplasia, Autosomal Dominant

Multiple Epiphyseal Dysplasia, Autosomal Recessive

Rmed

Dysplasia, Epiphyseal, Multiple

Osteochondrodysplasias

Stickler Syndrome

Arthroophthalmopathy

Hereditary Arthro-Ophthalmo-Dystrophy

Hereditary Arthro-Ophthalmopathy

Stickler Dysplasia

Hereditary Progressive Arthroophthalmopathy

Stickler Syndrome, Type 1

Pseudoachondroplasia

PSACH

Pseudoachondroplastic Dysplasia

Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome

Spondyloepiphyseal Dysplasia, Pseudoachondroplastic

Pseudoachondroplastic Spondyloepiphyseal Dysplasia

Spondyloepiphyseal Dysplasia Pseudoachondroplastic

Osteochondritis Dissecans

Osteochondritis

Ocd

Konig Disease

Osteoarthritis

Osteoarthrosis

Degenerative Joint Disease

Hypertrophic Arthritis

Arthropathy

Degenerative Polyarthritis

Degenerative Arthritis

Osteoarthrosis And Allied Disorder

Arthritis, Degenerative

Oa

Osteoarthritis Deformans

Osteoarthrosis Deformans

Kashin-Beck Disease

Spinal Stenosis

Lumbar Spinal Stenosis

Cervical Spinal Stenosis

Spinal Stenosis Of Lumbar Region

Spinal Stenosis In Cervical Region

Spinal Canal Stenosis

Vitreous Syneresis

Vitreous Degeneration

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

Epiphyseal Dysplasia, Multiple, 2

EDM2

Multiple Epiphyseal Dysplasia 2

Dysplasia, Epiphyseal, Multiple, Type 2

Epiphyseal Dysplasia, Multiple, 4

EDM4

Multiple Epiphyseal Dysplasia 4

Multiple Epiphyseal Dysplasia With Clubfoot

Multiple Epiphyseal Dysplasia Type 4

Multiple Epiphyseal Dysplasia, Autosomal Recessive

Multiple Epiphyseal Dysplasia With Bilayered Patellae

Med4

Polyepiphyseal Dysplasia Type 4

Rmed

Autosomal Recessive Multiple Epiphyseal Dysplasia

Multiple Epiphyseal Dysplasia With Bilateral Patellae

Epiphyseal Dysplasia Multiple 4

Multiple Epiphyseal Dysplasia With Double-Layered Patella

Dysplasia, Epiphyseal, Multiple, Type 4

Epiphyseal Dysplasia, Multiple, 5

EDM5

Multiple Epiphyseal Dysplasia 5

Bhmed

Multiple Epiphyseal Dysplasia Type 5

Multiple Epiphyseal Dysplasia, Matn3-Related

Microepiphyseal Dysplasia, Bilateral Hereditary

Bilateral Hereditary Microepiphyseal Dysplasia

Multiple Epiphyseal Dysplasia Matn3-Related

Epiphyseal Dysplasia Multiple 5

Multiple Epiphyseal Dysplasia, Matn3 Related

Bilateral Hereditary Micro-Epiphyseal Dysplasia

Med5

Polyepiphyseal Dysplasia Type 5

Dysplasia, Epiphyseal, Multiple, Type 5

Kniest Dysplasia

Kniest Syndrome

Metatropic Dwarfism, Type Ii

Kniest Chondrodystrophy

Metatropic Dysplasia Type Ii

Swiss Cheese Cartilage Dysplasia

KD

Ks

Metatropic Dwarfism Type Ii

Dysplasia, Kniest

Spondyloepimetaphyseal Dysplasia, Strudwick Type

Spondylometaphyseal Dysplasia

Strudwick Syndrome

Dappled Metaphysis Syndrome

Semd, Strudwick Type

Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type

Smed, Strudwick Type

Smd

Smed Strudwick Type

SEMDSTWK

Smed, Type I

Semdc

Smed Type 1

Spondyloepimetaphyseal Dysplasia Strudwick Type

Sed Strudwick

Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type

Smed Type I

Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses

Dysplasia, Spondyloepimetaphyseal, Strudwick Type

Dysplasia, Spondylometaphyseal

Achondrogenesis, Type Ib

ACG1B

Achondrogenesis Type Ib

Achondrogenesis Type 1b

Achondrogenesis Ib

Achondrogenesis Fraccaro Type

Achondrogenesis, Fraccaro Type

Achondrogenesis, Parenti-Fraccaro Type

Achondrogenesis 1b

Acg-Ib

Fraccaro Achondrogenesis

Retinal Detachment

Retinal Detachments

Rhegmatogenous Retinal Detachment

Ruptured Retina With Detachment

Retinal Hole With Detachment

Fibrochondrogenesis

Fbcg1

Fbcg2

Fibrochondrogenesis-1

Fibrochondrogenesis-2

Fibrochondrogenesis 1

Fibrochondrogenesis 2

Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Weissenbacher-Zweymuller Syndrome

Wzs

Pierre Robin Syndrome With Fetal Chondrodysplasia

OSMEDA

Weissenbacher-Zweymüller Syndrome

Heterozygous Osmed

Stickler Syndrome, Type 3

Osmed, Heterozygous

Pierre Robin Syndrome With Fetal Chondrodysplasia Stickler Syndrome, Nonocular Type, Formerly

Stickler Syndrome, Type Iii, Formerly

Stl3, Formerly

Piere-Robin Syndrome

Pierre Robin Malformation

Heterozygous Otospondylomegaepiphyseal Dysplasia

Autosomal Dominant Otospondylomegaepiphyseal Dysplasia

Ad Osmed

Stickler Syndrome Type 3

Stickler Syndrome, Non-Ocular Type

Stickler-Like Syndrome

Stickler Syndrome 3

Stickler Syndrome Non-Ocular Type

Stickler Syndrome Type Iii

Stl3

Weissenbacher-Zweymueller Syndrome

Stickler Syndrome, Type Iii

Pierre Robin Syndrome

Dysplasia, Otospondylomegaepiphyseal, Autosomal Dominant

Epiphyseal Dysplasia, Multiple, 1

EDM1

Multiple Epiphyseal Dysplasia 1

Multiple Epiphyseal Dysplasia Type 1

Med1

Multiple Epiphyseal Dysplasia Comp-Related

Polyepiphyseal Dysplasia Type 1

Multiple Epiphyseal Dysplasia, Comp-Related

Epiphyseal Dysplasia Multiple 1

Epiphyseal Dysplasia, Multiple 1

Dysplasia, Epiphyseal, Multiple, Type 1

Macroglossia

Congenital Macroglossia

Enlarged Tongue

Giant Tongue

Acquired Macroglossia Nos

Congenital Hypertrophy Of Tongue

Waardenburg Syndrome, Type 4b

Waardenburg Syndrome Type 4b

WS4B

Waardenburg Syndrome Type Ivb

Waardenburg Syndrome With Hirschsprung Disease Type 4b

Waardenburg Syndrome, Type 4b, With Hirschsprung Disease

Waardenburg Syndrome, Type Ivb

Waardenburg Syndrome 4b

Hirschsprung Disease With Pigmentary Anomaly

Shah-Waardenburg Syndrome

Waardenburg-Shah Syndrome

Waardenburg Syndrome, Type 4a

Spondyloepiphyseal Dysplasia Congenita

SEDC

Sed Congenita

Spondyloepiphyseal Dysplasia, Congenital Type

Late Spondyloepiphyseal Dysplasia

Sed, Congenital Type

Congenital Spondyloepiphyseal Dysplasia

Spranger-Wiedemann Disease

Spondyloepiphyseal Dysplasia Congenital Type

Dysplasia, Spondyloepiphyseal, Congenita

Spondyloepiphyseal Dysplasia, Congenita

Spondyloepiphyseal Dysplasia Tarda, X-Linked

Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Osmed

Otospondylomegaepiphyseal Dysplasia

Chondrodystrophy With Sensorineural Deafness

Nance-Insley Syndrome

Nance-Sweeney Chondrodysplasia

OSMEDB

Insley-Astley Syndrome

Osmed Syndrome

Mega-Epiphyseal Dwarfism

Weissenbacher-Zweymuller Syndrome, Formerly

Wzs, Formerly

Nance Sweeney Chondrodysplasia

Oto-Spondylo-Mega-Epiphyseal Dysplasia

Oto-Spondylo-Megaepiphyseal Dysplasia

Megaepiphyseal Dwarfism

Hypochondrogenesis

Achondrogenesis Type Ii/Hypochondrogenesis

Fibrochondrogenesis 1

FBCG1

Fibrochondrogenesis, Type 1

Achondrogenesis

Achondrogenesis Syndrome

Spondyloperipheral Dysplasia

Spondyloperipheral Dysplasia With Short Ulna

Spondyloperipheral Dysplasia-Short Ulna Syndrome

SPD

Dysplasia, Spondyloperipheral

Spondyloperipheral Dysplasia Short Ulna

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

Osteochondrosis

Osteochondritis

Apophysitis

Epiphysitis

Osteochondritis Juvenilis

Epiphyseal Necrosis

Juvenile Osteochondrosis Of Tibial Tubercle

Atelosteogenesis

Atelosteogenesis, Type 1

Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations

Spondyloepiphyseal Dysplasia

Chst3-Related Skeletal Dysplasia

Humerospinal Dysostosis

Spondyloepiphyseal Dysplasia, Omani Type

Chondrodysplasia With Multiple Dislocations

SEDCJD

Hsd

Cdmd

Humero-Spinal Dysostosis

Kozlowski Celermajer Tink Syndrome

Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type

Larsen Syndrome, Recessive Type

Humero-Spinal Dysostosis With Congenital Heart Disease

Omani Type

Sed

Chst3 Deficiency

Chst3-Related Dysplasia

Recessive Larsen Syndrome

Autosomal Recessive Larsen Syndrome

Sed With Luxations, Chst3 Type

Sed, Omani Type

Sdcd, Chst3 Type

Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type

Sed Omani Type

Spondyloepiphyseal Dysplasia Omani Type

Larsen Syndrome, Autosomal Recessive

Mucopolysaccharidosis Iv

Spondyloepiphyseal Dysplasia, Congenita

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

Diastrophic Dysplasia

Diastrophic Dwarfism

DTD

Dd

Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant

Dysplasia, Diastrophic

Diastrophic Dysplasia Variant

Achondrogenesis, Type Ii

Achondrogenesis Type Ii

ACG2

Achondrogenesis, Langer-Saldino Type

Achondrogenesis Type 2

Chondrogenesis Imperfecta

Achondrogenesis, Type Ib, Formerly

Achondrogenesis, Type Ii Or Hypochondrogenesis

Achondrogenesis 2

Acg-Ii

Achondrogenesis-Hypochondrogenesis Type Ii

Achondrogenesis Langer-Saldino Type

Achondrogenesis-Hypochondrogenesis, Type Ii

Hypochondrogenesis

Donnai-Barrow Syndrome

Faciooculoacousticorenal Syndrome

Dbs/Foar Syndrome

Foar Syndrome

Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome

Facio-Oculo-Acoustico-Renal Syndrome

Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria

Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome

Holmes-Schepens Syndrome

Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness

DBS

Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria

Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis

Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome

Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss

Donnai Barrow Syndrome

Retinal Perforation

Retinal Break

Retinal Perforations

Retinal Dialysis

Retinal Tear

Retinal Break Nos

Ruptured Retina

Campomelic Dysplasia

Acampomelic Campomelic Dysplasia

Camptomelic Dysplasia

Campomelic Dysplasia With Autosomal Sex Reversal

Cmpd

CMD1

Cmpd1

Cmpd1/Sra1

Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal

Campomelic Dwarfism

Campomelic Syndrome

Dysplasia, Campomelic

Chronic Myeloproliferative Disorder

Familial Dilated Cardiomyopathy

Bone Development Disease
Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

Refractive Error

Refractive Errors

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Bethlem Myopathy 1

Bethlem Myopathy

Myopathy, Benign Congenital, With Contractures

Muscular Dystrophy, Benign Congenital

BTHLM1

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5

Lgmdd5

Benign Congenital Muscular Dystrophy

Benign Autosomal Dominant Myopathy

Myopathy, Bethlem

Myopathy, Bethlem, Type 1

Ullrich Congenital Muscular Dystrophy 1

Ullrich Congenital Muscular Dystrophy

Ullrich Disease

Ucmd

Ullrich Scleroatonic Muscular Dystrophy

Scleroatonic Muscular Dystrophy

UCMD1

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22

Lgmdr22

Muscular Dystrophy, Scleroatonic

Late Onset Scleroatonic Familial Myopathy

Congenital Muscular Dystrophy, Ullrich Type

Orofacial Cleft

Cleft, Orofacial

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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus COL9A1 RGD RGD:1309425
Mus musculus COL9A1 MGD MGI:88465
Bos taurus COL9A1 VGNC VGNC:53787
Felis catus COL9A1 VGNC VGNC:61071
Canis familiaris COL9A1 VGNC VGNC:49782
Macaca mulatta COL9A1 VGNC VGNC:71306
Others COL9A1 NCBI