Influence of laminopathies on Wnt signaling (Homo sapiens)

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Bibliography

1. Lloyd, D.J, Trembath, R.C, Shackleton, S; ''A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies''; Human Molecular Genetics, 11(7), 769–777, 2002 PubMed Europe PMC Scholia
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History

External references

DataNodes

Name	Type	Database reference	Comment
AGO2	GeneProduct	27161 (Entrez Gene)
APC	GeneProduct	324 (Entrez Gene)
AXIN1	GeneProduct	8312 (Entrez Gene)
Adiponectin	Protein	Q15848 (Uniprot-TrEMBL)	glucose regulation and fatty acid oxidation metabolism --> is secreated from adipose tissue
C	Metabolite	CHEBI:17376 (ChEBI)
CCND1	GeneProduct	595 (Entrez Gene)
CDK6	GeneProduct	1021 (Entrez Gene)
CEBPA	GeneProduct	1050 (Entrez Gene)	is down regulated following overexpression of miR33B
CEBPB	GeneProduct	1051 (Entrez Gene)	activated in early stages of adipogenesis --> activates transcription of PPARG and CEBPA by binding to promoter region in later stages of adipogenesis as are anti mitotic- promote terminal differentiation
CEBPD	GeneProduct	1052 (Entrez Gene)
CSNK1A1	GeneProduct	1452 (Entrez Gene)
CSNK1A1L	GeneProduct	122011 (Entrez Gene)
CTNNB1	GeneProduct	1499 (Entrez Gene)
DICER1	GeneProduct	23405 (Entrez Gene)
EMD	GeneProduct	2010 (Entrez Gene)	Mutations are linked to X-EMD
Emerin	Protein	F8WEQ1 (Uniprot-TrEMBL)
Farnesyltransferase	GeneProduct	2339 (Entrez Gene)
GSK3B	GeneProduct	2932 (Entrez Gene)
HES1	GeneProduct	3280 (Entrez Gene)
HES5	GeneProduct	388585 (Entrez Gene)
HMGA2	GeneProduct	8091 (Entrez Gene)	chromatin remodeling factor--> important role in the clonal-expansion phase of adipogenesis - may be able to control critical genes involved in cellular proliferation--> loss of HMGA2 impairs adipocyte differentiation overexpression of miR33B caused a significant reduction in HMGA2 HMGA2 is induced during the clonal-expansion phase of adipogenesis but reduced following terminal differentiation
Isoprenylcysteine carboxyl methyltransferase	GeneProduct	23463 (Entrez Gene)
LEF1	GeneProduct	51176 (Entrez Gene)
LMNA	GeneProduct	4000 (Entrez Gene)	Single point mutations = AD-EMD
MIR33B	GeneProduct	693120 (Entrez Gene)
MIRLET7B	GeneProduct	406884 (Entrez Gene)	targets HMGA2, decreasing it --> high amounts in mature adipocytes
Mature lamin A	GeneProduct	4000 (Entrez Gene)
Notch signaling	Pathway	WP268 (WikiPathways)
PPARG	GeneProduct	5468 (Entrez Gene)	Novel F388L mutation is associated with a form of partial lipodystrophy
Prelamin-A	Protein	D6RB20 (Uniprot-TrEMBL)
Progeria	Pathway	WP4320 (WikiPathways)
Progerin	GeneProduct	4000 (Entrez Gene)
RUNX2	GeneProduct	860 (Entrez Gene)
SLC2A4	GeneProduct	6517 (Entrez Gene)	GLUT4- associated with noninsulin diabetes mellitus
SPP1	GeneProduct	6696 (Entrez Gene)
SREBP signaling	Pathway	WP1982 (WikiPathways)
SREBP1c	GeneProduct	6720 (Entrez Gene)
TARBP2	GeneProduct	6895 (Entrez Gene)
TCF7	GeneProduct	6932 (Entrez Gene)
TCF7L1	GeneProduct	83439 (Entrez Gene)
TCF7L2	GeneProduct	6934 (Entrez Gene)
TLE1	GeneProduct	7088 (Entrez Gene)
TOR1AIP1	GeneProduct	26092 (Entrez Gene)
Truncated prelamin-A	Protein	D6RB20 (Uniprot-TrEMBL)	LMNA heterozygous splicing mutation --> loss of exon 11 results in a truncated pre lamin A - removal of Carboxyl terminal motif - interaction with other proteins - disrupted function can also result from ZMPSTE24 mutations - premature stop codon - no propper processing of lamin A - can also result from null mutations
WNT10B	GeneProduct	7480 (Entrez Gene)	upregulation will stimulate wnt signaling to down regulate adipogenesis
Wnt signaling	Pathway	WP428 (WikiPathways)	Wnt signaling inhibits protease complex to allow for beta catenin localisation into the nucleus and prevent its degredation Wnt signaling functions as an adipogenic switch. When it is on, adipogenesis is repressed --> in first days of adipogenesis- differentiation is blocked when it is off, adipogenesis is initiated. when disrupted = spontaneous adipogenesis In Wnt signaling absence, myoblasts are reprogrammed to the adipocyte lineage and undergo spontaneous differentiation.
ZMPSTE24	GeneProduct	10269 (Entrez Gene)

Annotated Interactions

No annotated interactions