Familial partial lipodystrophy (FPLD) (Homo sapiens)

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16114, 15214, 151011161163, 12164, 157, 16163, 94, 1533144, 156, 8163, 9175, 17316Increased lipid storageReduced lipolysisAdipogenesisAdipocyte survivalDNA replicationRNA transcriptionCell cycle regulationMehcanical supportetc.KLF9LPLFPLD type 1GATA2MGLLFABP4AKT2KLF5KLF2FPLD type 2LMNB1PRRX1FPLD type 3FarnesylFPLD type 4FPLD type 5CEBPABANF1DiacylglycerolGATA3STAT5BFPLD type 6Familial Parital Lipodystrophy(FPLD)MonoacylglycerolPNPLA2SREBF1LMNB22, 34, 152, 32, 36132, 32, 32, 3FA and GlycerolCIDEAPPARGPPARAUnkown geneMAPK9PI3KCIDECPLIN1InsulinLIPE1122, 3Nuclear Laminanon-matured Lamin APrelamin-A/CPrelamin-A/CZMPSTE24CAAXFarnesylFNTAFarnesyl-L-cysteineICMTLMNAPrelamin-A/CCAAXPrelamin-A/CFarnesyl-L-cysteineZMPSTE24MFarnesyl-L-cysteineM1616TriacylglycerolLamin ALamin ALamin B2Lamin B1BindingInhibitionConversionGene/proteinMetaboliteTranscriptionCatalysisStimulationxMethylatioinMMutationsLegendxDiseasexCleaving


Mutated genes that have been found to be the cause of the specific subtypes of familial partial lipodystrophy.

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  1. Townsend LK, Knuth CM, Wright DC; ''Cycling our way to fit fat.''; Physiol Rep, 2017 PubMed Europe PMC Scholia
  2. Cox LS, Faragher RG; ''From old organisms to new molecules: integrative biology and therapeutic targets in accelerated human ageing.''; Cell Mol Life Sci, 2007 PubMed Europe PMC Scholia
  3. Langhi C, Baldán �; ''CIDEC/FSP27 is regulated by peroxisome proliferator-activated receptor alpha and plays a critical role in fasting- and diet-induced hepatosteatosis.''; Hepatology, 2015 PubMed Europe PMC Scholia
  4. Jiao Y, Aisa Y, Liang X, Nuermaimaiti N, Gong X, Zhang Z, Guan Y; ''Regulation of PPARγ and CIDEC expression by adenovirus 36 in adipocyte differentiation.''; Mol Cell Biochem, 2017 PubMed Europe PMC Scholia
  5. Gao J, Liao J, Yang GY; ''CAAX-box protein, prenylation process and carcinogenesis.''; Am J Transl Res, 2009 PubMed Europe PMC Scholia
  6. Akinci B, Sahinoz M, Oral E; ''Lipodystrophy Syndromes: Presentation and Treatment''; , 2000 PubMed Europe PMC Scholia
  7. Fan M, Du X, Chen X, Bai H, Loor JJ, Shen T, Liang Y, Sun X, Xu Q, Song Y, Wang Z, Liu G, Yang L, Li X, Gao W; ''Inhibition of cell death inducing DNA fragmentation factor-α-like effector c (CIDEC) by tumor necrosis factor-α induces lipolysis and inflammation in calf adipocytes.''; J Dairy Sci, 2021 PubMed Europe PMC Scholia
  8. Enerbäck S, Ohlsson BG, Samuelsson L, Bjursell G; ''Characterization of the human lipoprotein lipase (LPL) promoter: evidence of two cis-regulatory regions, LP-alpha and LP-beta, of importance for the differentiation-linked induction of the LPL gene during adipogenesis.''; Mol Cell Biol, 1992 PubMed Europe PMC Scholia
  9. Dittmer TA, Misteli T; ''The lamin protein family.''; Genome Biol, 2011 PubMed Europe PMC Scholia
  10. Brey CW, Nelder MP, Hailemariam T, Gaugler R, Hashmi S; ''Krüppel-like family of transcription factors: an emerging new frontier in fat biology.''; Int J Biol Sci, 2009 PubMed Europe PMC Scholia
  11. Wu L, Zhou L, Chen C, Gong J, Xu L, Ye J, Li D, Li P; ''Cidea controls lipid droplet fusion and lipid storage in brown and white adipose tissue.''; Sci China Life Sci, 2014 PubMed Europe PMC Scholia
  12. ''''; , PubMed Europe PMC Scholia
  13. Broekema MF, Savage DB, Monajemi H, Kalkhoven E; ''Gene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants.''; Biochim Biophys Acta Mol Cell Biol Lipids, 2019 PubMed Europe PMC Scholia
  14. Slayton M, Gupta A, Balakrishnan B, Puri V; ''CIDE Proteins in Human Health and Disease.''; Cells, 2019 PubMed Europe PMC Scholia
  15. Greenberg AS, Coleman RA, Kraemer FB, McManaman JL, Obin MS, Puri V, Yan QW, Miyoshi H, Mashek DG; ''The role of lipid droplets in metabolic disease in rodents and humans.''; J Clin Invest, 2011 PubMed Europe PMC Scholia
  16. Gruenbaum Y, Goldman RD, Meyuhas R, Mills E, Margalit A, Fridkin A, Dayani Y, Prokocimer M, Enosh A; ''The nuclear lamina and its functions in the nucleus.''; Int Rev Cytol, 2003 PubMed Europe PMC Scholia
  17. Ito M, Nagasawa M, Omae N, Ide T, Akasaka Y, Murakami K; ''Differential regulation of CIDEA and CIDEC expression by insulin via Akt1/2- and JNK2-dependent pathways in human adipocytes.''; J Lipid Res, 2011 PubMed Europe PMC Scholia


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119174view08:06, 20 June 2021EgonwNot an mim-conversion
119171view06:33, 20 June 2021MaintBotNot mim-conversion's
119137view10:21, 18 June 2021UlasBabayigitCorrected arrows into graphical elements.
119136view10:19, 18 June 2021UlasBabayigitCorrected arrows into graphical elements.
119135view10:19, 18 June 2021UlasBabayigitCorrected arrows into graphical elements.
119134view10:18, 18 June 2021UlasBabayigitCorrected arrows into graphical elements.
119133view10:17, 18 June 2021UlasBabayigitCorrected arrows into graphical elements.
119132view10:16, 18 June 2021UlasBabayigitCorrected arrows into graphical elements.
119126view09:41, 18 June 2021UlasBabayigittesting if i can update
118684view07:09, 1 June 2021UlasBabayigitOntology Term : 'familial partial lipodystrophy type 6' added !
118683view07:09, 1 June 2021UlasBabayigitOntology Term : 'familial partial lipodystrophy type 5' added !
118682view07:09, 1 June 2021UlasBabayigitOntology Term : 'familial partial lipodystrophy type 4' added !
118681view07:08, 1 June 2021UlasBabayigitOntology Term : 'familial partial lipodystrophy type 3' added !
118680view07:08, 1 June 2021UlasBabayigitOntology Term : 'familial partial lipodystrophy type 2' added !
118679view07:08, 1 June 2021UlasBabayigitOntology Term : 'familial partial lipodystrophy type 1' added !
118678view07:07, 1 June 2021UlasBabayigitOntology Term : 'disease pathway' added !
117970view11:01, 23 May 2021EweitzOntology Term : 'PW:0000001' removed !
117966view11:00, 23 May 2021EweitzModified title
117143view09:40, 18 May 2021UlasBabayigitRemoved incorrect farnesyl node
117137view09:28, 18 May 2021UlasBabayigitCorrected nodes, changed unkown gene into a graphcial element
117120view08:03, 18 May 2021UlasBabayigitModified description
117119view07:32, 18 May 2021UlasBabayigitFixed the cleaving of ZMPSTE24 and changed legend
117106view14:07, 17 May 2021UlasBabayigitOntology Term : 'Pathway Ontology' added !
117105view14:07, 17 May 2021UlasBabayigitOntology Term : 'familial partial lipodystrophy' added !
117104view14:06, 17 May 2021UlasBabayigitOntology Term : 'Disease' added !
117088view06:40, 17 May 2021UlasBabayigitNew pathway

External references


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NameTypeDatabase referenceComment
AKT2ProteinENSG00000105221 (Ensembl)
BANF1GeneProductENSG00000175334 (Ensembl)
CAAXMetaboliteCHEBI:15356 (ChEBI)
CEBPAGeneProductENSG00000245848 (Ensembl)
CIDEAGeneProductENSG00000176194 (Ensembl)
CIDECGeneProductENSG00000187288 (Ensembl)
DiacylglycerolMetaboliteCHEBI:85682 (ChEBI)
FABP4GeneProductENSG00000170323 (Ensembl)
FNTAGeneProductENSG00000168522 (Ensembl)
FPLD type 1Q60195045 (Wikidata)
FPLD type 2Q60195039 (Wikidata)
FPLD type 3Q60195041 (Wikidata)
FPLD type 4Q60195043 (Wikidata)
FPLD type 5Q60195040 (Wikidata)
FPLD type 6Q60195044 (Wikidata)
Familial Parital Lipodystrophy (FPLD)Q5432945 (Wikidata)
Farnesyl-L-cysteineMetaboliteCHEBI:86019 (ChEBI)
Farnesyl-L-cysteineMetaboliteCHEBI:86019 (Uniprot-TrEMBL)
FarnesylProteinB3KVN2 (Uniprot-TrEMBL)
FarnesylMetaboliteCHEBI:86019 (ChEBI)
GATA2GeneProductENSG00000179348 (Ensembl)
GATA3GeneProductENSG00000107485 (Ensembl)
ICMTGeneProductENSG00000116237 (Ensembl)
InsulinProteinA6XGL2 (Uniprot-TrEMBL)
KLF2GeneProductENSG00000127528 (Ensembl)
KLF5GeneProductENSG00000102554 (Ensembl)
KLF9GeneProductENSG00000119138 (Ensembl)
LIPEGeneProductENSG00000079435 (Ensembl)
LMNAGeneProductENSG00000160789 (Ensembl)
LMNB1GeneProductENSG00000113368 (Ensembl)
LMNB2GeneProductENSG00000176619 (Ensembl)
LPLGeneProductENSG00000175445 (Ensembl)
Lamin AGeneProductENSG00000160789 (Ensembl)
Lamin B1GeneProductENSG00000113368 (Ensembl)
Lamin B2GeneProductENSG00000176619 (Ensembl)
MAPK9ProteinENSG00000050748 (Ensembl)
MGLLGeneProductENSG00000074416 (Ensembl)
MonoacylglycerolMetaboliteCHEBI:17408 (ChEBI)
PI3KProteinENSG00000121879 (Ensembl)
PLIN1GeneProductENSG00000166819 (Ensembl)
PNPLA2GeneProductENSG00000177666 (Ensembl)
PPARAGeneProductENSG00000186951 (Ensembl)
PPARGGeneProductENSG00000132170 (Ensembl)
PRRX1GeneProductENSG00000116132 (Ensembl)
Prelamin-A/CProteinP02545 (Uniprot-TrEMBL)
SREBF1GeneProductENSG00000072310 (Ensembl)
STAT5BGeneProductENSG00000173757 (Ensembl)
TriacylglycerolMetabolite17855 (ChEBI)
Unkown geneGeneProduct
ZMPSTE24GeneProductENSG00000084073 (Ensembl)

Annotated Interactions

No annotated interactions

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