Human Gene Set: VANDESLUIS_COMMD1_TARGETS_GROUP_3_DN

For the Mouse gene set with the same name, see VANDESLUIS_COMMD1_TARGETS_GROUP_3_DN

Standard name VANDESLUIS_COMMD1_TARGETS_GROUP_3_DN
Systematic name M2300
Brief description Genes down-regulated in 9.5 days post coitus (dpc) embryos with COMMD1 [GeneID=150684] knockout compared to normal 9.5 dpc embryos.
Full description or abstract COMMD1 (previously known as MURR1) belongs to a novel family of proteins termed the copper metabolism gene MURR1 domain (COMMD) family. The 10 COMMD family members are well conserved between vertebrates, but the functions of most of the COMMD proteins are unknown. We recently established that COMMD1 is associated with the hepatic copper overload disorder copper toxicosis in Bedlington terriers. Recent in vitro studies indicate that COMMD1 has multiple functions, including sodium transport and NF-kappaB signaling. To elucidate the function of Commd1 in vivo, we generated homozygous Commd1 null (Commd1(-/-)) mice. Commd1(-/-) embryos died in utero between 9.5 and 10.5 days postcoitum (dpc), their development was generally retarded, and placenta vascularization was absent. Microarray analysis identified transcriptional upregulation of hypoxia-inducible factor 1 (HIF-1) target genes in 9.5-dpc Commd1(-/-) embryos compared to normal embryos, a feature that was associated with increased Hif-1alpha stability. Consistent with these observations, COMMD1 physically associates with HIF-1alpha and inhibits HIF-1alpha stability and HIF-1 transactivation in vitro. Thus, this study identifies COMMD1 as a novel regulator of HIF-1 activity and shows that Commd1 deficiency in mice leads to embryonic lethality associated with dysregulated placenta vascularization.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 17371845   Authors: van de Sluis B,Muller P,Duran K,Chen A,Groot AJ,Klomp LW,Liu PP,Wijmenga C
Exact source Table 5S: Comparison=9.5 dpc KO versus 9.5 dpc WT
Related gene sets (show 6 additional gene sets from the source publication)

(show 4 gene sets from the same authors)
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Source species Mus musculus
Contributed by Arthur Liberzon (MSigDB Team)
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identifier namespace		 Mouse_RefSeq
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Version history 3.1: First introduced

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