2. Gene
  3. COL6A5 - collagen type VI alpha 5 chain Gene

COL6A5 - collagen type VI alpha 5 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 α5 链

种属: Homo sapiens

同用名: VWA4; COL29A1

基因 ID: 256076 | 基因类型: protein coding

关于 COL6A5

Cytogenetic location: 3q22.1 Genomic coordinates (GRCh38): 3:130,345,672-130,484,846 (from NCBI)

This gene has 4 transcripts (splice variants), 149 orthologues and 12 paralogues. Biased expression in skin (RPKM 1.9), lung (RPKM 1.6) and 8 other tissues.

功能概要

该基因编码胶原蛋白超家族的成员。编码的蛋白质包含多个 von Willebrand 因子 A 样结构域，并可能与胶原蛋白 VI 的 alpha 1 和 alpha 2 链相互作用，形成完整的胶原蛋白 VI 三聚体。该基因的多态性可能与皮肤表型有关，例如湿疹。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 5 月]

This gene encodes a member of the Collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of Collagen VI to form the complete Collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

COL6A5 基因产物(3)

mRNA Protein Name
NM_001278298.2 NP_001265227.1 collagen alpha-5(VI) chain isoform 1 precursor
NM_001412157.1 NP_001399086.1 collagen alpha-5(VI) chain isoform 3 precursor
NM_153264.7 NP_694996.5 collagen alpha-5(VI) chain isoform 2 precursor
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
19478074 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular region 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

COL6A5 蛋白结构

VWA

VWA: von Willebrand factor type A domain (30 - 198)

VWA

VWA: von Willebrand factor type A domain (236 - 405)

VWA

VWA: von Willebrand factor type A domain (442 - 610)

VWA

VWA: von Willebrand factor type A domain (628 - 794)

VWA

VWA: von Willebrand factor type A domain (814 - 985)

VWA

VWA: von Willebrand factor type A domain (1005 - 1171)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1395 - 1446)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1434 - 1490)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1464 - 1520)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1524 - 1580)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1579 - 1629)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1674 - 1729)

VWA

VWA: von Willebrand factor type A domain (1759 - 1887)

VWA

VWA: von Willebrand factor type A domain (1963 - 2131)

VWA

VWA: von Willebrand factor type A domain (2291 - 2461)

  • 0
  • 500
  • 1000
  • 1500
  • 2000
  • 2615 a.a.
蛋白主名 其他名称

collagen alpha-5(VI) chain

collagen, type VI, alpha 5

关联疾病

疾病名称 别名
Dermatitis

Eczema

Skin Inflammation

Inflammatory Dermatosis
Chiari Malformation
Neuropathy, Hereditary Sensory And Autonomic, Type Ic

HSAN1C

Hsan Ic

Hsn1c

Hsn Ic

Hereditary Sensory And Autonomic Neuropathy Type 1c

Neuropathy, Hereditary Sensory And Autonomic, Type 1c

Neuropathy, Hereditary Sensory, Type Ic

Hereditary Sensory And Autonomic Neuropathy Type Ic

Neuropathy, Hereditary Sensory And Autonomic, 1c

Hereditary Sensory Neuropathy Type Ic

Neuropathy, Hereditary Sensory/Autonomic, Type Ic

Neuropathy, Sensory And Autonomic, Hereditary, Type Ic
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
Chronic Dacryoadenitis
Epulis

Epulides

Gingival Polyp

Polyp Of Gum
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
Corneal Dystrophy
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
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02995 COL6A5 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus COL6A5 MGD MGI:3648134
Bos taurus COL6A5 VGNC VGNC:109405
Canis familiaris COL6A5 VGNC VGNC:39482
Rattus norvegicus COL6A5 RGD RGD:1565804
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