GDF1 (growth differentiation factor 1)

2007-04-01  

Identity

HGNC
GDF1
LOCATION
19p13.11
LOCUSID
2657
ALIAS
CERS1,CHTD6,DORV,DTGA3,LAG1,LASS1,RAI,UOG1

Other Information

Locus ID:

NCBI: 2657
MIM: 602880
HGNC: 4214
Ensembl: ENSG00000130283

Variants:

dbSNP: 2657
ClinVar: 2657
TCGA: ENSG00000130283
COSMIC: GDF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130283ENST00000247005P27539

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Sphingolipid de novo biosynthesisREACTOMER-HSA-1660661
Developmental BiologyREACTOMER-HSA-1266738
Signaling by NODALREACTOMER-HSA-1181150

References

Pubmed IDYearTitleCitations
381752052024Human colorectal cancer: upregulation of the adaptor protein Rai in TILs leads to cell dysfunction by sustaining GSK-3 activation and PD-1 expression.0
381752052024Human colorectal cancer: upregulation of the adaptor protein Rai in TILs leads to cell dysfunction by sustaining GSK-3 activation and PD-1 expression.0
353512242022Homozygous variants in the GDF1 gene related to recurrent right isomerism and complex CHD in two Indian families.0
353512242022Homozygous variants in the GDF1 gene related to recurrent right isomerism and complex CHD in two Indian families.0
333603472021Arsenic suppresses GDF1 expression via ROS-dependent downregulation of specificity protein 1.5
333603472021Arsenic suppresses GDF1 expression via ROS-dependent downregulation of specificity protein 1.5
321448772020A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.3
321448772020A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.3
311715732019Association of functional variant in GDF1 promoter with risk of congenital heart disease and its regulation by Nkx2.5.3
311715732019Association of functional variant in GDF1 promoter with risk of congenital heart disease and its regulation by Nkx2.5.3
289912572017Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.393
289912572017Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.393
266569832015Association of GDF1 rs4808863 with fetal congenital heart defects: a case-control study.6
266569832015Association of GDF1 rs4808863 with fetal congenital heart defects: a case-control study.6
242755542014Growth/differentiation factor 1 alleviates pressure overload-induced cardiac hypertrophy and dysfunction.4

Citation

Dessen P

GDF1 (growth differentiation factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47033/gdf1-(growth-differentiation-factor-1)