Human Gene LPIN1 (ENST00000674199.1_7) from GENCODE V47lift37
  Description: lipin 1, transcript variant 12 (from RefSeq NM_001349206.2)
Gencode Transcript: ENST00000674199.1_7
Gencode Gene: ENSG00000134324.12_17
Transcript (Including UTRs)
   Position: hg19 chr2:11,886,758-11,967,535 Size: 80,778 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg19 chr2:11,905,668-11,964,917 Size: 59,250 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:11,886,758-11,967,535)mRNA (may differ from genome)Protein (926 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: LPIN1_HUMAN
DESCRIPTION: RecName: Full=Phosphatidate phosphatase LPIN1; EC=3.1.3.4; AltName: Full=Lipin-1;
FUNCTION: Plays important roles in controlling the metabolism of fatty acids at differents levels. Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis in the reticulum endoplasmic membrane. Acts also as a nuclear transcriptional coactivator for PPARGC1A/PPARA to modulate lipid metabolism gene expression (By similarity). Is involved in adipocyte differentiation. May also be involved in mitochondrial fission by converting phosphatidic acid to diacylglycerol (By similarity).
CATALYTIC ACTIVITY: A 1,2-diacylglycerol 3-phosphate + H(2)O = a 1,2-diacyl-sn-glycerol + phosphate.
COFACTOR: Mg(2+) (By similarity).
ENZYME REGULATION: Inhibited by N-ethylmaleimide (By similarity).
SUBUNIT: Interacts (via LXXIL motif) with PPARA (By similarity). Interacts with PPARGC1A (By similarity). Interaction with PPARA and PPARGC1A leads to the formation of a complex that modulates gene transcription (By similarity). Interacts with MEF2C (By similarity).
SUBCELLULAR LOCATION: Nucleus membrane (By similarity). Cytoplasm, cytosol (By similarity). Endoplasmic reticulum membrane (By similarity).
TISSUE SPECIFICITY: Specifically expressed in skeletal muscle. Also abundant in adipose tissue. Lower levels in some portions of the digestive tract.
DOMAIN: Contains one Leu-Xaa-Xaa-Ile-Leu (LXXIL), a transcriptional binding motif, which mediates interaction with PPARA (By similarity).
DOMAIN: Contains 1 Asp-Xaa-Asp-Xaa-Thr (DXDXT) motif, a catalytic motif essential for phosphatidate phosphatase activity (By similarity).
PTM: Phosphorylated at multiple sites in response to insulin. Phosphorylation is controlled by the mTOR signaling pathway. Phosphorylation is decreased by epinephrine. Phosphorylation may not directly affect the catalytic activity but may regulate the localization. Dephosphorylated by the CTDNEP1-CNEP1R1 complex (By similarity).
PTM: Sumoylated (By similarity).
DISEASE: Defects in LPIN1 are a cause of autosomal recessive acute recurrent myoglobinuria (ARARM) [MIM:268200]; also known as acute recurrent rhabdomyolysis. Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age of 5 years.
MISCELLANEOUS: May represent a candidate gene for human lipodysytropy syndromes.
SIMILARITY: Belongs to the lipin family.
SEQUENCE CAUTION: Sequence=BAA11505.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: LPIN1
Diseases sorted by gene-association score: myoglobinuria, acute recurrent, autosomal recessive* (1019), genetic recurrent myoglobinuria* (202), myoglobinuria (44), lipodystrophy (16), sjogren-larsson syndrome (9), hypopyon (8), obesity (2), diabetes mellitus, noninsulin-dependent (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -18.3049-0.373 Picture PostScript Text
3' UTR -762.802618-0.291 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR023214 - HAD-like_dom
IPR026058 - LIPIN
IPR007651 - Lipin_N
IPR013209 - LNS2

Pfam Domains:
PF04571 - lipin, N-terminal conserved region
PF08235 - LNS2 (Lipin/Ned1/Smp2)
PF16876 - Lipin/Ned1/Smp2 multi-domain protein middle domain

SCOP Domains:
101908 - Putative isomerase YbhE
50978 - WD40 repeat-like
69322 - Tricorn protease domain 2
56784 - HAD-like

ModBase Predicted Comparative 3D Structure on Q14693
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0003713 transcription coactivator activity
GO:0008195 phosphatidate phosphatase activity
GO:0016787 hydrolase activity

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006629 lipid metabolic process
GO:0006631 fatty acid metabolic process
GO:0006642 triglyceride mobilization
GO:0006646 phosphatidylethanolamine biosynthetic process
GO:0006656 phosphatidylcholine biosynthetic process
GO:0007077 mitotic nuclear envelope disassembly
GO:0009062 fatty acid catabolic process
GO:0016311 dephosphorylation
GO:0019432 triglyceride biosynthetic process
GO:0031100 animal organ regeneration
GO:0032869 cellular response to insulin stimulus
GO:0045944 positive regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005741 mitochondrial outer membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0016020 membrane
GO:0031965 nuclear membrane


-  Descriptions from all associated GenBank mRNAs
  AK294742 - Homo sapiens cDNA FLJ56073 complete cds, highly similar to Lipin-1.
AK302922 - Homo sapiens cDNA FLJ55901 complete cds, highly similar to Lipin-1.
BC030537 - Homo sapiens lipin 1, mRNA (cDNA clone MGC:40396 IMAGE:3906281), complete cds.
AK290235 - Homo sapiens cDNA FLJ76196 complete cds, highly similar to Homo sapiens lipin 1 (LPIN1), mRNA.
D80010 - Homo sapiens mRNA for KIAA0188 gene.
DQ894676 - Synthetic construct Homo sapiens clone IMAGE:100009136; FLH177409.01L; RZPDo839H07123D lipin 1 (LPIN1) gene, encodes complete protein.
AB463100 - Synthetic construct DNA, clone: pF1KA0188, Homo sapiens LPIN1 gene for lipin 1, without stop codon, in Flexi system.
AK294853 - Homo sapiens cDNA FLJ51642 complete cds, highly similar to Lipin-1.
CR749806 - Homo sapiens mRNA; cDNA DKFZp781P1796 (from clone DKFZp781P1796).
AK293787 - Homo sapiens cDNA FLJ51758 complete cds, highly similar to Lipin-1.
BC018071 - Homo sapiens cDNA clone IMAGE:4819424, containing frame-shift errors.
AK310450 - Homo sapiens cDNA, FLJ17492.
JD186145 - Sequence 167169 from Patent EP1572962.
CU688896 - Synthetic construct Homo sapiens gateway clone IMAGE:100017832 5' read LPIN1 mRNA.
AF147446 - Homo sapiens full length insert cDNA clone ZM50A09.
AK127039 - Homo sapiens cDNA FLJ45095 fis, clone BRAWH3030892.
JD490767 - Sequence 471791 from Patent EP1572962.
JD525481 - Sequence 506505 from Patent EP1572962.
JD141799 - Sequence 122823 from Patent EP1572962.
JD298352 - Sequence 279376 from Patent EP1572962.
JD093957 - Sequence 74981 from Patent EP1572962.
JD044107 - Sequence 25131 from Patent EP1572962.
JD298205 - Sequence 279229 from Patent EP1572962.
JD363503 - Sequence 344527 from Patent EP1572962.
JD078974 - Sequence 59998 from Patent EP1572962.
JD346098 - Sequence 327122 from Patent EP1572962.
JD358398 - Sequence 339422 from Patent EP1572962.
DL491969 - Novel nucleic acids.
JD422153 - Sequence 403177 from Patent EP1572962.
DL490526 - Novel nucleic acids.
JD094447 - Sequence 75471 from Patent EP1572962.
JD500076 - Sequence 481100 from Patent EP1572962.
JD288559 - Sequence 269583 from Patent EP1572962.
JD437555 - Sequence 418579 from Patent EP1572962.
JD535934 - Sequence 516958 from Patent EP1572962.
JD302692 - Sequence 283716 from Patent EP1572962.
JD304596 - Sequence 285620 from Patent EP1572962.
JD349479 - Sequence 330503 from Patent EP1572962.
JD080906 - Sequence 61930 from Patent EP1572962.
JD138676 - Sequence 119700 from Patent EP1572962.
JD444763 - Sequence 425787 from Patent EP1572962.
JD073042 - Sequence 54066 from Patent EP1572962.
JD201582 - Sequence 182606 from Patent EP1572962.
AL357194 - Homo sapiens EST from clone 965437, full insert.
JD392649 - Sequence 373673 from Patent EP1572962.
JD089834 - Sequence 70858 from Patent EP1572962.
JD280387 - Sequence 261411 from Patent EP1572962.
JD115211 - Sequence 96235 from Patent EP1572962.
JD133592 - Sequence 114616 from Patent EP1572962.
JD516735 - Sequence 497759 from Patent EP1572962.
JD438962 - Sequence 419986 from Patent EP1572962.
JD060450 - Sequence 41474 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q14693 (Reactome details) participates in the following event(s):

R-HSA-5195402 CDK1 phosphorylates LPIN
R-HSA-4419948 CTDNEP1:CNEP1R1 dephosphorylates LPIN
R-HSA-75899 1,2-diacyl-glycerol 3-phosphate + H2O => 1,2-diacyl-glycerol + orthophosphate
R-HSA-5221130 LPIN catalyzes conversion of phosphatidic acid to diacylglycerol
R-HSA-1483203 PA is dephosphorylated to DAG by LPIN
R-HSA-4419969 Depolymerisation of the Nuclear Lamina
R-HSA-75109 Triglyceride biosynthesis
R-HSA-2980766 Nuclear Envelope Breakdown
R-HSA-1483191 Synthesis of PC
R-HSA-1483213 Synthesis of PE
R-HSA-8979227 Triglyceride metabolism
R-HSA-68875 Mitotic Prophase
R-HSA-1483206 Glycerophospholipid biosynthesis
R-HSA-556833 Metabolism of lipids
R-HSA-68886 M Phase
R-HSA-1483257 Phospholipid metabolism
R-HSA-1430728 Metabolism
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: A8MU38, B4DET9, B4DGS4, B4DGZ6, B5MC18, B7Z858, D6W506, E7ESE7, F5GY24, KIAA0188, LPIN1 , LPIN1_HUMAN, NM_001349206, Q14693, Q53T25, uc329xyq.1, uc329xyq.2
UCSC ID: ENST00000674199.1_7
RefSeq Accession: NM_001349206.2
Protein: Q14693 (aka LPIN1_HUMAN or LPN1_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.