1. Gene
  2. COL19A1 - collagen type XIX alpha 1 chain Gene

COL19A1 - collagen type XIX alpha 1 chain Gene

中文名称:XIX 型胶原蛋白 alpha 1 链

种属: Homo sapiens

同用名: COL9A1L; D6S228E

基因 ID: 1310 | 基因类型: protein coding

关于 COL19A1

Cytogenetic location: 6q13 Genomic coordinates (GRCh38): 6:69,866,556-70,212,468 (from NCBI)

This gene has 5 transcripts (splice variants), 132 orthologues and 23 paralogues. Broad expression in lymph node (RPKM 1.1), appendix (RPKM 0.8) and 14 other tissues.

功能概要

该基因编码 XIX 型胶原蛋白的 α 链,它是 FACIT 胶原蛋白家族 (具有间断螺旋的原纤维相关胶原蛋白) 的成员。虽然这种胶原蛋白的功能尚不清楚,但发现该胶原蛋白家族的其他成员与形成原纤维的胶原蛋白如 I 型和 II 型相关,并用于维持细胞外基质的完整性。由该基因产生的转录物具有异常大的 3' UTR,尚未完全测序。[RefSeq 提供,2008 年 7 月]

This gene encodes the alpha chain of type XIX Collagen, a member of the FACIT Collagen family (fibril-associated collagens with interrupted helices). Although the function of this Collagen is not known, Other members of this Collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced. [provided by RefSeq, Jul 2008]

COL19A1 基因产物(1)

mRNA Protein Name
NM_001858.6 NP_001849.2 collagen alpha-1(XIX) chain precursor
蛋白主名 其他名称

collagen alpha-1(XIX) chain

a1 chain of type XIX collagen

关联疾病

疾病名称 别名
Megaesophagus

Esophageal Achalasia

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
Felis catus COL19A1 VGNC VGNC:102407
Rattus norvegicus COL19A1 RGD RGD:1308920
Mus musculus COL19A1 MGD MGI:1095415
Canis familiaris COL19A1 VGNC VGNC:39463
Macaca mulatta COL19A1 VGNC VGNC:71294