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1289 COL5A1

1289

COL5A1

collagen type V alpha 1 chain

protein-coding

Homo sapiens

基因描述

Type Description
Definition collagen type V alpha 1 chain

研究结论

Date Results Publications
2021-01-02 12:52:00 Possible Modifying Effect of Hemoglobin A1c on Genetic Susceptibility to Severe Diabetic Retinopathy in Patients With Type 2 Diabetes. 32756921
2020-12-19 13:44:00 A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia. 32938213
2020-12-12 13:21:00 Exploring new genetic variants within COL5A1 intron 4-exon 5 region and TGF-beta family with risk of anterior cruciate ligament ruptures. 31922278
2020-11-28 13:16:00 Altered expression of proteoglycan, collagen and growth factor genes in a TGF-beta1 stimulated genetic risk model for musculoskeletal soft tissue injuries. 32061523
2020-09-12 15:58:00 Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations in COL1A1 and COL5A1. 31239369

名称对应

Type IDs
Synonymous EDSC, EDSCL1
Gene
UniProtKB-ID: CO5A1_HUMAN, A0A024R8E5_HUMAN, Q59EE7_HUMAN, B2ZZ86_HUMAN
UniprotKB: P20908, A0A024R8E5, Q59EE7, B2ZZ86
UniParc: UPI0003294505, UPI0001765F97, UPI00004F6E75, UPI0000210EE3
EMBL: AL591890, AL645768, AB371583, AB209864, D90279, CH471090, AL603650, M76729
Ensembl: ENSG00000130635
KO: hsa:1289
Nucleutide sequences
EMBL-CDS: AAA59993.1, BAA14323.1, EAW88130.1, EAW88128.1, EAW88131.1, BAD93101.1, BAG48312.1
Gene_ORFName: hCG_2021790
Ensembl_TRS: ENST00000618395, ENST00000371817
Protein sequencees
Ensembl_PRO: ENSP00000360882, ENSP00000481360
RefSeq: NP_000084.3, XP_016869755.1, NP_001265003.1
Others
UniRef100: UniRef100_P20908, UniRef100_B2ZZ86, UniRef100_Q96HC0
UniRef90: UniRef90_P20908
UniRef50: UniRef50_P20908
UniGene: Hs.210283
CCDS: CCDS75932.1, CCDS6982.1

全选

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