2. Gene
  3. COL6A3 - collagen type VI alpha 3 chain Gene

COL6A3 - collagen type VI alpha 3 chain Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：VI 型胶原蛋白 alpha 3 链

种属: Homo sapiens

同用名: DYT27; UCMD1; BTHLM1

基因 ID: 1293 | 基因类型: protein coding

关于 COL6A3

Cytogenetic location: 2q37.3 Genomic coordinates (GRCh38): 2:237,324,018-237,414,164 (from NCBI)

This gene has 20 transcripts (splice variants), 289 orthologues, 12 paralogues and is associated with 7 phenotypes. Broad expression in gall bladder (RPKM 140.2), endometrium (RPKM 95.0) and 16 other tissues.

功能概要

该基因编码 alpha-3 链，这是 VI 型胶原蛋白的三个 alpha 链之一，VI 型胶原蛋白是一种在大多数结缔组织中发现的珠状细丝胶原蛋白。 VI 型胶原蛋白的 alpha-3 链比 alpha-1 和 -2 链大得多。这种大小差异主要是由于子域数量的增加，类似于 von Willebrand 因子 A 型域，它们存在于所有 alpha 链的氨基末端球状域中。这些结构域已被证明可以结合细胞外基质蛋白，这种相互作用解释了这种胶原蛋白在组织基质成分中的重要性。 VI 型胶原蛋白基因的突变与 Bethlem 肌病相关，这是一种罕见的常染色体显性近端肌病，发病于儿童早期。该基因的突变也是乌尔里希先天性肌营养不良症的一个原因，也称为乌尔里希硬化性肌营养不良症，这是一种比贝特莱姆肌病更严重的常染色体隐性先天性肌病。已经确定了多个转录本变体，但仅描述了其中一些变体的全长性质。[RefSeq 提供，2009 年 6 月]

This gene encodes the alpha-3 chain, one of the three alpha chains of type VI Collagen, a beaded filament Collagen found in most connective tissues. The alpha-3 chain of type VI Collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this Collagen in organizing matrix components. Mutations in the type VI Collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]

COL6A3 基因产物(5)

mRNA Protein Name
NM_004369.4 NP_004360.2 collagen alpha-3(VI) chain isoform 1 precursor
NM_057164.5 NP_476505.3 collagen alpha-3(VI) chain isoform 2 precursor
NM_057165.5 NP_476506.3 collagen alpha-3(VI) chain isoform 3 precursor
NM_057166.5 NP_476507.3 collagen alpha-3(VI) chain isoform 4 precursor
NM_057167.4 NP_476508.2 collagen alpha-3(VI) chain isoform 5 precursor
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular matrix IDA
IDA: 通过直接分析推断
18400749 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

COL6A3 蛋白结构

VWA

VWA: von Willebrand factor type A domain (39 - 211)

VWA

VWA: von Willebrand factor type A domain (242 - 414)

VWA

VWA: von Willebrand factor type A domain (445 - 609)

VWA

VWA: von Willebrand factor type A domain (639 - 806)

VWA

VWA: von Willebrand factor type A domain (837 - 990)

VWA

VWA: von Willebrand factor type A domain (1029 - 1193)

VWA

VWA: von Willebrand factor type A domain (1233 - 1403)

VWA

VWA: von Willebrand factor type A domain (1436 - 1608)

VWA

VWA: von Willebrand factor type A domain (1639 - 1811)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (2038 - 2095)

VWA

VWA: von Willebrand factor type A domain (2403 - 2573)

VWA

VWA: von Willebrand factor type A domain (2619 - 2805)

Kunitz_BPTI

Kunitz_BPTI: Kunitz/Bovine pancreatic trypsin inhibitor domain (3111 - 3162)

  • 0
  • 500
  • 1000
  • 1500
  • 2000
  • 2500
  • 3000
  • 3177 a.a.
蛋白主名 其他名称

collagen alpha-3(VI) chain

collagen VI, alpha-3 polypeptide

重组 COL6A3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75684 COL6A3 Protein, Human (HEK293) P12111-1 (T3101-T3177) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P75685 COL6A3 Protein, Human (HEK293, His) P12111-1 (T3101-T3177) ≥ 95%, as determined by reducing SDS-PAGE.

COL6A3 抗体

目录号 产品名 应用 反应物种
HY-P810016 COL6A3 Antibody (YA9360) WB, ICC/IF, IF-Tissue, IHC-P, IP human
HY-P81048 Collagen VI A1+A2+A3 Antibody (YA893) WB, ICC/IF, IHC-P Human, Mouse, Rat
HY-P82892 Collagen VI A1+A2+A3 Antibody (YA2637) WB, IHC-P, ICC/IF Human, Mouse, Rat

关联疾病

疾病名称 别名
Dystonia 27

DYT27

Primary Dystonia, Dyt27 Type

Dystonia, Type 27
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
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
Myopathy

Muscular Diseases

Myopathies
Isolated Dystonia

Pure Dystonia
Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy
Malignant Giant Cell Tumor Of The Tendon Sheath

Giant Cell Tumour Of Tendon Sheath, Malignant

Malignant Giant Cell Neoplasm Of The Tendon Sheath
Collagen Vi-Related Dystrophies

Col6-Rds

Collagen 6-Related Myopathy

Col6-Related Dystrophies

Collagen Vi-Related Dystrophy

Collagen Type Vi-Related Disorders

Collagen Vi-Related Myopathies

Collagen Vi-Related Myopathy

Colvi Myopathies
Nodular Tenosynovitis

Synovioma, Benign

Benign Synovioma

Benign Tumor Of Synovium

Localized Giant Cell Tumor Of Tenosynovium

Giant Cell Tumor Of Tendon Sheath
Tenosynovial Giant Cell Tumor

Fibrous Histiocytoma Of Tendon Sheath

Giant Cell Tumor Of Tendon Sheath

Giant Cell Tumor Of Tenosynovium

Giant Cell Tumour Of Tendon Sheath

Giant Cell Tumour Of Tenosynovium

Tenosynovial Giant Cell Tumour

Diffuse-Type Gct

Diffuse-Type Giant Cell Tumor

Pigmented Villonodular Synovitis

Tgct

Tsgct
Pigmented Villonodular Synovitis

Diffuse Giant Cell Tumor Of Tenosynovium

Villous Tenosynovitis

Diffuse Pigmented Villonodular Synovitis

Diffuse-Type Gct

Diffuse-Type Giant Cell Tumor

Localized Pigmented Villonodular Synovitis

Tgct

Tsgct

Tenosynovial Giant Cell Tumor

Tenosynovial Giant Cell Tumors

Synovitis Pigmented Villonodular

Synovitis, Pigmented Villonodular

Fibrous Histiocytoma Of Tendon Sheath

Testicular Germ Cell Tumor

Chronic Haemorrhagic Villous Synovitis

Pvns - [Pigmented Villonodular Synovitis]

Villonodular Synovitis
Muscular Dystrophy, Congenital, Lmna-Related

Congenital Muscular Dystrophy

Congenital Muscular Dystrophy Due To Lmna Mutation

MDCL

L-Cmd

Lmna-Related Congenital Muscular Dystrophy

Muscular Dystrophy, Congenital

Congenital Muscular Dystrophy Lmna-Related

Lmna-Related Cmd

Cmd

Mdc

Muscular Dystrophy Congenital Lmna-Related

Dystrophy, Muscular, Congenital, Lmna-Related

Dystrophy, Muscular, Congenital

Hereditary Muscular Dystrophy

Congenital Hereditary Muscular Dystrophy

Congenital Progressive Muscular Dystrophy

Hereditary Progressive Muscular Dystrophy
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
Dystonia 25

DYT25

Dystonia-25

Dystonia, Type 25
Torsion Dystonia 2

Dystonia 2, Torsion, Autosomal Recessive
Villonodular Synovitis

Pigmented Villonodular Synovitis
Congenital Muscular Dystrophy-Dystroglycanopathy Type A12

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A12

Mddga12

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Pomk-Related
Bone Benign Neoplasm
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Lgmd2b

Muscular Dystrophy, Limb-Girdle, Type 2b

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Beta-Sarcoglycanopathy

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y

Muscular Dystrophy, Limb-Girdle, Type 3

Lgmd3

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s

LGMDR2

Muscular Dystrophy, Limb-Girdle, Type 2s

Limb-Girdle Muscular Dystrophy Type 2b

Lgmd2e

Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2e

Lgmd2s

Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency

Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency

Lgmd2y

Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine

Muscular Dystrophy, Limb-Girdle, Type 2y

Dysferlin-Related Limb-Girdle Muscular Dystrophy R2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Dysferlin-Related Lgmd R2

Lgmd Due To Dysferlin Deficiency

Lgmd Type 2b

Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

Limb-Girdle Muscular Dystrophy 2b

Limb-Girdle Muscular Dystrophy, Type 2b

Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2

Dystrophy, Muscular, Limb-Girdle, Type 2b

Limb-Girdle Muscular Dystrophy, Type 2e
Adamantinous Craniopharyngioma

Adamantinous Rathke'S Pouch Tumor

Craniopharyngioma, Adamantinomatous

Adamantinomatous Craniopharyngioma
Rigid Spine Muscular Dystrophy 1

Rigid Spine Syndrome

RSMD1

Rss

Mdrs1

Eichsfeld Type Congenital Muscular Dystrophy

Desmin-Related Myopathy With Mallory Bodies

Classic Multiminicore Myopathy

Sepn1-Related Myopathy

Multicore Myopathy, Severe Classic Form

Minicore Myopathy, Severe Classic Form

Multiminicore Disease, Severe Classic Form

Muscular Dystrophy, Rigid Spine, 1

Classic Mmd

Classic Multiminicore Disease

Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity

Desmin-Related Myopathy With Mallory Body-Like Inclusions

Early-Onset Desmin-Related Myopathy

Myopathy, Sepn1-Related

Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity

Muscular Dystrophy, Congenital, Eichsfeld Type

Severe Classic Form Minicore Myopathy

Severe Classic Form Multicore Myopathy

Severe Classic Form Multiminicore Disease

Desmin-Related Myopathies With Mallory Bodies

Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity

Rigid Spine Muscular Dystrophy-1

Rigid Spine Congenital Muscular Dystrophy

Congenital Muscular Dystrophy Eichsfeld Type

Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity

Minicore Myopathy Severe Classic Form

Multicore Myopathy Severe Classic Form

Multiminicore Disease Severe Classic Form

Dystrophy, Muscular, Rigid Spine, Type 1
Osteogenesis Imperfecta, Type Iv

Osteogenesis Imperfecta Type 4

Osteogenesis Imperfecta Type Iv

OI4

Oi, Type Iv

Osteogenesis Imperfecta With Normal Sclerae

Oi Type Iv

Oi Type 4

Osteogenesis Imperfecta With Normal Sclera

Common Variable Oi With Normal Sclerae

Osteogenesis Imperfecta 4

Oi-Iv
Walker-Warburg Syndrome

Hard Syndrome

Walker-Warburg Congenital Muscular Dystrophy

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Chemke Syndrome

Hydrocephalus, Agyria And Retinal Dysplasia

Cerebroocular Dysgenesis

Cerebroocular Dysplasia Muscular Dystrophy Syndrome

Hard +/- E Syndrome

Pagon Syndrome

Warburg Syndrome

Hydrocephalus, Agyria, And Retinal Dysplasia

Mddga

Muscular Dystrophy-Dystroglycanopathy , Type A

Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy, Type A
Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02994 COL6A3 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS18560 Col6a3 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS25042 Col6a3 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus COL6A3 VGNC VGNC:27572
Mus musculus COL6A3 MGD MGI:88461
Felis catus COL6A3 VGNC VGNC:61068
Rattus norvegicus COL6A3 RGD RGD:1308704
Canis familiaris COL6A3 VGNC VGNC:39481
Macaca mulatta COL6A3 VGNC VGNC:71303
Others COL6A3 NCBI
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z