1. Gene
  2. COL21A1 - collagen type XXI alpha 1 chain Gene

COL21A1 - collagen type XXI alpha 1 chain Gene

中文名称:XXI 型胶原蛋白 alpha 1 链

种属: Homo sapiens

同用名: FP633; COLA1L

基因 ID: 81578 | 基因类型: protein coding

关于 COL21A1

Cytogenetic location: 6p12.1 Genomic coordinates (GRCh38): 6:56,056,590-56,394,128 (from NCBI)

This gene has 12 transcripts (splice variants), 109 orthologues and 37 paralogues. Broad expression in placenta (RPKM 9.8), heart (RPKM 8.6) and 16 other tissues.

功能概要

该基因编码 XXI 型胶原蛋白的 α 链,它是 FACIT (具有间断螺旋的原纤维相关胶原蛋白) 胶原蛋白家族的成员。 XXI 型胶原蛋白位于含有 I 型胶原蛋白的组织中,并保持细胞外基质的完整性。可变剪接导致多个转录本变体。[RefSeq 提供,2016 年 1 月]

This gene encodes the alpha chain of type XXI collagen, a member of the FACIT (fibril-associated collagens with interrupted helices) collagen family. Type XXI collagen is localized to tissues containing type I collagen and maintains the integrity of the extracellular matrix. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

COL21A1 基因产物(5)

mRNA Protein Name
NM_001318751.2 NP_001305680.1 collagen alpha-1(XXI) chain isoform a precursor
NM_001318752.2 NP_001305681.1 collagen alpha-1(XXI) chain isoform b precursor
NM_001318753.2 NP_001305682.1 collagen alpha-1(XXI) chain isoform c
NM_001318754.2 NP_001305683.1 collagen alpha-1(XXI) chain isoform d
NM_030820.4 NP_110447.2 collagen alpha-1(XXI) chain isoform a precursor

COL21A1 蛋白结构

VWA

VWA: von Willebrand factor type A domain (37 - 206)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (448 - 500)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (486 - 542)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (536 - 594)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (681 - 733)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (731 - 787)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (825 - 882)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (884 - 934)

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  • 957 a.a.
蛋白主名 其他名称

collagen alpha-1(XXI) chain

alpha 1 chain-like collagen

重组 COL21A1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70094 COL21A1 Protein, Human (HEK293, His) Q96P44-1 (E23-Y957) ≥95%

关联疾病

疾病名称 别名
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