1. Gene
  2. COL20A1 - collagen type XX alpha 1 chain Gene

COL20A1 - collagen type XX alpha 1 chain Gene

中文名称:XX 型胶原蛋白 alpha 1 链

种属: Homo sapiens

基因 ID: 57642 | 基因类型: protein coding

关于 COL20A1

Cytogenetic location: 20q13.33 Genomic coordinates (GRCh38): 20:63,293,186-63,334,806 (from NCBI)

This gene has 8 transcripts (splice variants), 43 orthologues and 37 paralogues. Biased expression in brain (RPKM 3.6) and testis (RPKM 0.8).

功能概要

预测位于内质网腔和细胞外区域。预计是胶原蛋白三聚体的一部分。预计在含胶原蛋白的细胞外基质和细胞外间隙中具有活性。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to be located in endoplasmic reticulum lumen and extracellular region. Predicted to be part of collagen trimer. Predicted to be active in collagen-containing extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Apr 2022]

COL20A1 基因产物(1)

mRNA Protein Name
NM_020882.4 NP_065933.2 collagen alpha-1(XX) chain precursor

COL20A1 蛋白结构

fn3

fn3: Fibronectin type III domain (39 - 101)

VWA

VWA: von Willebrand factor type A domain (179 - 331)

fn3

fn3: Fibronectin type III domain (378 - 455)

fn3

fn3: Fibronectin type III domain (468 - 542)

fn3

fn3: Fibronectin type III domain (559 - 633)

fn3

fn3: Fibronectin type III domain (648 - 724)

fn3

fn3: Fibronectin type III domain (742 - 820)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1071 - 1127)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1133 - 1190)

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  • 1284 a.a.
蛋白主名 其他名称

collagen alpha-1(XX) chain

collagen, type XX, alpha 1

关联疾病

疾病名称 别名
Oropouche Fever

Oropouche Virus Disease

Oropouche Mosquito-Borne Viral Fever

Marshall Syndrome

MRSHS

Deafness, Myopia, Cataract, Saddle Nose-Marshall Type

Periodic Fever, Aphthous Stomatitis, Pharyngitis And Adenitis

Pfapa Syndrome

Pfapa

Marshall Syndrome With Periodic Fever

Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome

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
Mus musculus COL20A1 MGD MGI:1920618
Felis catus COL20A1 VGNC VGNC:80073
Bos taurus COL20A1 VGNC VGNC:27562
Macaca mulatta COL20A1 VGNC VGNC:84578
Rattus norvegicus COL20A1 RGD RGD:1563901
Canis familiaris COL20A1 VGNC VGNC:39466