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2657 GDF1

2657

GDF1

growth differentiation factor 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition growth differentiation factor 1

研究结论

Date Results Publications
2021-02-06 13:55:00 Arsenic suppresses GDF1 expression via downregulation of specificity protein 1. 33360347
2021-01-16 15:58:00 A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds. 32144877
2020-03-14 12:53:00 Nkx2.5 acts upstream of GDF1 and the genetic variants in GDF1 promoter may confer genetic susceptibility to sporadic CHD potentially by altering its expression. 31171573
2017-11-04 11:35:00 Rare inherited and de novo variants in 2,871 congenital heart disease probands identified GDF1, MYH6, and FLT4 as causative genes. 28991257
2016-09-24 10:46:00 Our results suggest that the GDF1 rs4808863 polymorphism contributes to an increased risk of fetal CHDs, especially the subtypes of AVSD, LVOTO and left-right laterality defects. 26656983

名称对应

Type IDs
Synonymous CERS1, CHTD6, DORV, DTGA3, LAG1, LASS1, RAI, UOG1
Gene
UniProtKB-ID: GDF1_HUMAN, A0A024R7N8_HUMAN
UniprotKB: P27539, A0A024R7N8
UniParc: UPI0000169571
EMBL: AC003972, CH471106, M62302, AC005197
Ensembl: ENSG00000223802, ENSG00000130283
KO: hsa:2657
Nucleutide sequences
EMBL-CDS: AAA58501.1, AAB94786.1, EAW84744.1, EAW84743.1
Gene_ORFName: hCG_2045882
Ensembl_TRS: ENST00000247005, ENST00000623927
Protein sequencees
Ensembl_PRO: ENSP00000247005, ENSP00000485582
RefSeq: NP_001483.3, NP_001374367.1
Others
UniRef100: UniRef100_P27539
UniRef90: UniRef90_P27539
UniRef50: UniRef50_P27539
UniGene: Hs.412355
CCDS: CCDS42526.1

全选

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