ENSG00000134324


Homo sapiens

Features
Gene ID: ENSG00000134324
  
Biological name :LPIN1
  
Synonyms : lipin 1 / LPIN1 / Q14693
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: p25.1
Gene start: 11677595
Gene end: 11827409
  
Corresponding Affymetrix probe sets: 212272_at (Human Genome U133 Plus 2.0 Array)   212274_at (Human Genome U133 Plus 2.0 Array)   212276_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000397908
Ensembl peptide - ENSP00000392424
Ensembl peptide - ENSP00000401522
Ensembl peptide - ENSP00000413714
Ensembl peptide - ENSP00000412578
Ensembl peptide - ENSP00000256720
Ensembl peptide - ENSP00000379404
Ensembl peptide - ENSP00000379405
Ensembl peptide - ENSP00000379406
NCBI entrez gene - 23175     See in Manteia.
OMIM - 605518
RefSeq - XM_017003632
RefSeq - XM_006711870
RefSeq - XM_006711871
RefSeq - XM_006711872
RefSeq - XM_006711874
RefSeq - XM_011510333
RefSeq - XM_011510334
RefSeq - XM_011510335
RefSeq - XM_011510336
RefSeq - XM_017003623
RefSeq - XM_017003624
RefSeq - XM_017003625
RefSeq - XM_017003626
RefSeq - XM_017003627
RefSeq - XM_017003628
RefSeq - XM_017003629
RefSeq - XM_017003630
RefSeq - XM_017003631
RefSeq - NM_001261427
RefSeq - NM_001261428
RefSeq - NM_001261429
RefSeq - NM_001349199
RefSeq - NM_001349202
RefSeq - NM_001349203
RefSeq - NM_001349204
RefSeq - NM_001349205
RefSeq - NM_001349206
RefSeq - NM_001349207
RefSeq - NM_001349208
RefSeq - NM_145693
RefSeq - XM_006711869
RefSeq Peptide - NP_001248357
RefSeq Peptide - NP_001336135
RefSeq Peptide - NP_001336136
RefSeq Peptide - NP_001336137
RefSeq Peptide - NP_663731
RefSeq Peptide - NP_001248356
RefSeq Peptide - NP_001248358
RefSeq Peptide - NP_001336128
RefSeq Peptide - NP_001336131
RefSeq Peptide - NP_001336132
RefSeq Peptide - NP_001336133
RefSeq Peptide - NP_001336134
swissprot - C9IYP2
swissprot - H7C3T1
swissprot - C9J278
swissprot - Q14693
swissprot - A0A0A0MS66
Ensembl - ENSG00000134324
  
Related genetic diseases (OMIM): 268200 - Myoglobinuria, acute recurrent, autosomal recessive, 268200
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 lpin1ENSDARG00000020239Danio rerio
 si:ch73-21k16.1ENSDARG00000103380Danio rerio
 LPIN1ENSGALG00000016456Gallus gallus
 Lpin1ENSMUSG00000020593Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LPIN2 / Q92539 / lipin 2ENSG0000010157745
LPIN3 / Q9BQK8 / lipin 3ENSG0000013279339


Protein motifs (from Interpro)
Interpro ID Name
 IPR007651  Lipin, N-terminal
 IPR013209  Lipin/Ned1/Smp2 (LNS2)
 IPR023214  HAD superfamily
 IPR028794  Phosphatidate phosphatase LPIN1
 IPR031315  LNS2/PITP
 IPR031703  Lipin, middle domain
 IPR036412  HAD-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006631 fatty acid metabolic process IEA
 biological_processGO:0006642 triglyceride mobilization ISS
 biological_processGO:0006646 phosphatidylethanolamine biosynthetic process TAS
 biological_processGO:0006656 phosphatidylcholine biosynthetic process TAS
 biological_processGO:0007077 mitotic nuclear envelope disassembly TAS
 biological_processGO:0009062 fatty acid catabolic process IBA
 biological_processGO:0016311 dephosphorylation IEA
 biological_processGO:0019432 triglyceride biosynthetic process IBA
 biological_processGO:0031100 animal organ regeneration IEA
 biological_processGO:0032869 cellular response to insulin stimulus IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IBA
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0005635 nuclear envelope TAS
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005741 mitochondrial outer membrane IBA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031965 nuclear membrane ISS
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0003713 transcription coactivator activity IBA
 molecular_functionGO:0008195 phosphatidate phosphatase activity EXP
 molecular_functionGO:0016787 hydrolase activity IEA


Pathways (from Reactome)
Pathway description
Synthesis of PC
Synthesis of PE
Depolymerisation of the Nuclear Lamina
Triglyceride biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001265 Hyporeflexia 
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 HP:0001284 Areflexia 
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 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0001919 Acute renal failure 
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 HP:0001945 Fever 
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 HP:0002153 Hyperkalemia 
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 HP:0002913 Myoglobinuria 
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 HP:0003236 Elevated serum creatine phosphokinase 
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 HP:0003326 Myalgia "A tendency to experience muscle pain." [HPO:curators]
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 HP:0008942 Rhabdomyolysis, acute 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000134057 CCNB1 / P14635 / cyclin B1  / reaction
 ENSG00000170312 CDK1 / P06493 / cyclin dependent kinase 1  / reaction
 ENSG00000175826 O95476 / CTDNEP1 / CTD nuclear envelope phosphatase 1  / reaction






 

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