1. Gene
  2. COL15A1 - collagen type XV alpha 1 chain Gene

COL15A1 - collagen type XV alpha 1 chain Gene

中文名称:XV 型胶原蛋白 alpha 1 链

种属: Homo sapiens

基因 ID: 1306 | 基因类型: protein coding

关于 COL15A1

Cytogenetic location: 9q22.33 Genomic coordinates (GRCh38): 9:98,911,204-99,070,787 (from NCBI)

This gene has 5 transcripts (splice variants), 179 orthologues and 37 paralogues. Broad expression in placenta (RPKM 113.8), fat (RPKM 52.0) and 17 other tissues.

功能概要

该基因编码 XV 型胶原蛋白的 α 链,它是 FACIT 胶原蛋白家族的成员 (具有间断螺旋的原纤维相关胶原蛋白) 。 XV 型胶原蛋白具有广泛的组织分布,但最强的表达位于基底膜区域,因此它可能起到将基底膜粘附到下面的结缔组织基质的作用。 XV 型胶原蛋白水解产生的 C 末端片段是 restin,它是一种与内皮抑素密切相关的潜在抗血管生成蛋白。小鼠研究表明,胶原蛋白 XV 缺乏与肌肉和微血管退化有关。[RefSeq 提供,2013 年 5 月]

This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013]

COL15A1 基因产物(1)

mRNA Protein Name
NM_001855.5 NP_001846.3 collagen alpha-1(XV) chain precursor

COL15A1 蛋白结构

Laminin_G_3

Laminin_G_3: Concanavalin A-like lectin/glucanases superfamily (69 - 234)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (619 - 680)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (673 - 731)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (823 - 865)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (879 - 927)

Endostatin

Endostatin: Collagenase NC10 and Endostatin (1131 - 1188)

Endostatin

Endostatin: Collagenase NC10 and Endostatin (1196 - 1388)

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  • 1388 a.a.
蛋白主名 其他名称

collagen alpha-1(XV) chain

collagen XV, alpha-1 polypeptide

关联疾病

疾病名称 别名
Basal Laminar Drusen

Drusen Of Bruch Membrane

Drusen, Cuticular

Drusen, Early Adult-Onset, Grouped

Cuticular Drusen

Early Adult-Onset Grouped Drusen

BLD

Drusen Cuticular

Drusen Early Adult-Onset Grouped

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

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 COL15A1 RGD RGD:1310820
Canis familiaris COL15A1 VGNC VGNC:39460
Bos taurus COL15A1 VGNC VGNC:27556
Mus musculus COL15A1 MGD MGI:88449
Macaca mulatta COL15A1 VGNC VGNC:103251
Felis catus COL15A1 VGNC VGNC:61052
Others COL15A1 NCBI