STANDARD_NAME	VANDESLUIS_COMMD1_TARGETS_GROUP_4_UP
SYSTEMATIC_NAME	M2301
COLLECTION	C2:CGP
MSIGDB_URL	https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/VANDESLUIS_COMMD1_TARGETS_GROUP_4_UP
NAMESPACE	Mouse_RefSeq
DESCRIPTION_BRIEF	Genes up-regulated in 9.5 days post coitus (dpc) embryos with COMMD1 [GeneID=150684] knockout and in normal 8.5 dpc embryos compared to normal 9.5 dpc embryos.
DESCRIPTION_FULL	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.
PMID	17371845
GEOID	E-MEXP-832
AUTHORS	van de Sluis B,Muller P,Duran K,Chen A,Groot AJ,Klomp LW,Liu PP,Wijmenga C
CONTRIBUTOR	Arthur Liberzon
CONTRIBUTOR_ORG	MSigDB Team
EXACT_SOURCE	Table 4S-5S: Comparison=9.5 dpc KO and 8.5 dpc WT versus 9.5 dpc WT
FILTERED_BY_SIMILARITY	
EXTERNAL_NAMES_FOR_SIMILAR_TERMS	
EXTERNAL_DETAILS_URL	
SOURCE_MEMBERS	NM_007423,NM_007607,NM_007796,NM_009258,NM_009692,NM_009695,NM_009696,NM_009789,NM_010264,NM_010330,NM_010664,NM_011175,NM_011400,NM_011401,NM_011635,NM_013697,NM_018816,NM_026565,NM_172469,NM_178254,NM_198643,XM_135885,XM_620595
GENE_SYMBOLS	AFP,CA4,,SPINK1,APOA1,,APOE,S100G,NR6A1,EMB,KRT18,LGMN,SLC2A1,SLC2A3,,TTR,APOM,APOOL,CLIC6,TCFL5,,,
FOUNDER_NAMES