Free for academic non-profit institutions. Other users need a Commercial license

Aliases for LPIN1 Gene

Aliases for LPIN1 Gene

  • Lipin 1 2 3
  • EC 3.1.3.18 63
  • EC 5.4.2.7 63
  • EC 3.1.3.4 4
  • KIAA0188 4
  • Lipin-1 4
  • PAP1 3

External Ids for LPIN1 Gene

Previous GeneCards Identifiers for LPIN1 Gene

  • GC02P011915
  • GC02P011908
  • GC02P011837
  • GC02P011804
  • GC02P011864

Summaries for LPIN1 Gene

Entrez Gene Summary for LPIN1 Gene

  • This gene encodes a magnesium-ion-dependent phosphatidic acid phosphohydrolase enzyme that catalyzes the penultimate step in triglyceride synthesis including the dephosphorylation of phosphatidic acid to yield diacylglycerol. Expression of this gene is required for adipocyte differentiation and it also functions as a nuclear transcriptional coactivator with some peroxisome proliferator-activated receptors to modulate expression of other genes involved in lipid metabolism. Mutations in this gene are associated with metabolic syndrome, type 2 diabetes, and autosomal recessive acute recurrent myoglobinuria (ARARM). This gene is also a candidate for several human lipodystrophy syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their full-length structures have not been determined. [provided by RefSeq, May 2012]

GeneCards Summary for LPIN1 Gene

LPIN1 (Lipin 1) is a Protein Coding gene. Diseases associated with LPIN1 include myoglobinuria, acute recurrent, autosomal recessive and genetic recurrent myoglobinuria. Among its related pathways are Cell Cycle, Mitotic and Regulation of cholesterol biosynthesis by SREBP (SREBF). GO annotations related to this gene include transcription coactivator activity and RNA polymerase II transcription factor binding. An important paralog of this gene is LPIN2.

UniProtKB/Swiss-Prot for LPIN1 Gene

  • 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).

Gene Wiki entry for LPIN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LPIN1 Gene

Genomics for LPIN1 Gene

Regulatory Elements for LPIN1 Gene

Genomic Location for LPIN1 Gene

Chromosome:
2
Start:
11,677,545 bp from pter
End:
11,827,409 bp from pter
Size:
149,865 bases
Orientation:
Plus strand

Genomic View for LPIN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LPIN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LPIN1 Gene

Proteins for LPIN1 Gene

  • Protein details for LPIN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14693-LPIN1_HUMAN
    Recommended name:
    Phosphatidate phosphatase LPIN1
    Protein Accession:
    Q14693
    Secondary Accessions:
    • A8MU38
    • B4DET9
    • B4DGS4
    • B4DGZ6
    • B5MC18
    • B7Z858
    • D6W506
    • E7ESE7
    • F5GY24
    • Q53T25

    Protein attributes for LPIN1 Gene

    Size:
    890 amino acids
    Molecular mass:
    98664 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Note=Mg(2+) and, at a lesser extent, Mn(2+).;
    Quaternary structure:
    • Interacts (via LXXIL motif) with PPARA. Interacts with PPARGC1A. Interaction with PPARA and PPARGC1A leads to the formation of a complex that modulates gene transcription. Interacts with MEF2C.
    Miscellaneous:
    • May represent a candidate gene for human lipodysytropy syndromes
    SequenceCaution:
    • Sequence=BAA11505.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAG57200.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG57885.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAG57957.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BC018071; Type=Frameshift; Positions=134; Evidence={ECO:0000305};

    Alternative splice isoforms for LPIN1 Gene

neXtProt entry for LPIN1 Gene

Proteomics data for LPIN1 Gene at MOPED

Selected DME Specific Peptides for LPIN1 Gene

Post-translational modifications for LPIN1 Gene

  • 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).
  • Sumoylated.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for LPIN1 (LPIN1)

Domains & Families for LPIN1 Gene

Gene Families for LPIN1 Gene

HGNC:
IUPHAR :

Protein Domains for LPIN1 Gene

Suggested Antigen Peptide Sequences for LPIN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q14693

UniProtKB/Swiss-Prot:

LPIN1_HUMAN :
  • Contains one Leu-Xaa-Xaa-Ile-Leu (LXXIL), a transcriptional binding motif, which mediates interaction with PPARA.
  • Belongs to the lipin family.
Domain:
  • Contains one Leu-Xaa-Xaa-Ile-Leu (LXXIL), a transcriptional binding motif, which mediates interaction with PPARA.
  • Contains 1 Asp-Xaa-Asp-Xaa-Thr (DXDXT) motif, a catalytic motif essential for phosphatidate phosphatase activity.
Family:
  • Belongs to the lipin family.
genes like me logo Genes that share domains with LPIN1: view

Function for LPIN1 Gene

Molecular function for LPIN1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.35 mM for phosphatidate (isoform 1); KM=0.24 mM for phosphatidate (isoform 3); KM=0.11 mM for phosphatidate (isoform 4); Temperature dependence: Optimum temperature is 40 degrees Celsius. Thermolabile above 40 degrees Celsius and essentially inactive at 60 degrees Celsius.;
UniProtKB/Swiss-Prot CatalyticActivity:
A 1,2-diacylglycerol 3-phosphate + H(2)O = a 1,2-diacyl-sn-glycerol + phosphate
UniProtKB/Swiss-Prot EnzymeRegulation:
Potently inhibited by sphingolipids, in particular, the sphingoid bases sphinganine and sphingosine and ceramide-1-phosphate. Inhibited by concentrations of Mg(2+) and Mn(2+) above their optimums and by Ca(2+), Zn(2+), N-ethylmaleimide and propranolol.
UniProtKB/Swiss-Prot 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).

Enzyme Numbers (IUBMB) for LPIN1 Gene

Gene Ontology (GO) - Molecular Function for LPIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003713 transcription coactivator activity IBA --
GO:0008195 phosphatidate phosphatase activity IBA --
genes like me logo Genes that share ontologies with LPIN1: view
genes like me logo Genes that share phenotypes with LPIN1: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LPIN1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for LPIN1 Gene

Localization for LPIN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LPIN1 Gene

Nucleus membrane. Cytoplasm, cytosol. Endoplasmic reticulum membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LPIN1 Gene COMPARTMENTS Subcellular localization image for LPIN1 gene
Compartment Confidence
endoplasmic reticulum 4
nucleus 4
cytosol 3
mitochondrion 3
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for LPIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS 11138012
GO:0005635 nuclear envelope TAS --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm ISS --
GO:0005741 mitochondrial outer membrane IBA --
genes like me logo Genes that share ontologies with LPIN1: view

Pathways & Interactions for LPIN1 Gene

genes like me logo Genes that share pathways with LPIN1: view

Pathways by source for LPIN1 Gene

2 Cell Signaling Technology pathways for LPIN1 Gene
2 BioSystems pathways for LPIN1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for LPIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006470 protein dephosphorylation --
GO:0006642 triglyceride mobilization ISS --
GO:0006644 phospholipid metabolic process TAS --
genes like me logo Genes that share ontologies with LPIN1: view

No data available for SIGNOR curated interactions for LPIN1 Gene

Drugs & Compounds for LPIN1 Gene

(1) Drugs for LPIN1 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rosiglitazone Approved, Investigational Pharma Channel blocker Potent PPARγ agonist 219

(4) Additional Compounds for LPIN1 Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
glucose
LIPID
genes like me logo Genes that share compounds with LPIN1: view

Transcripts for LPIN1 Gene

Unigene Clusters for LPIN1 Gene

Lipin 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LPIN1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LPIN1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a ·
SP1: - - - - - - -
SP2: -
SP3: - -
SP4:
SP5:
SP6:
SP7: - -
SP8: -
SP9:
SP10:
SP11:
SP12:

ExUns: 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b
SP1: - - -
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for LPIN1 Gene

GeneLoc Exon Structure for
LPIN1
ECgene alternative splicing isoforms for
LPIN1

Expression for LPIN1 Gene

mRNA expression in normal human tissues for LPIN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LPIN1 Gene

This gene is overexpressed in Muscle - Skeletal (x8.7).

Protein differential expression in normal tissues from HIPED for LPIN1 Gene

This gene is overexpressed in Fetal testis (25.0), Fetal ovary (9.7), Heart (9.2), and Islet of Langerhans (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LPIN1 Gene



SOURCE GeneReport for Unigene cluster for LPIN1 Gene Hs.467740

mRNA Expression by UniProt/SwissProt for LPIN1 Gene

Q14693-LPIN1_HUMAN
Tissue specificity: Specifically expressed in skeletal muscle. Also abundant in adipose tissue. Lower levels in some portions of the digestive tract.
genes like me logo Genes that share expression patterns with LPIN1: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for LPIN1 Gene

Orthologs for LPIN1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for LPIN1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LPIN1 35
  • 85.45 (n)
  • 90.89 (a)
LPIN1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LPIN1 35
  • 86.64 (n)
  • 89.31 (a)
LPIN1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lpin1 35
  • 83.68 (n)
  • 88.84 (a)
Lpin1 16
Lpin1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LPIN1 35
  • 99.56 (n)
  • 99.49 (a)
LPIN1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lpin1 35
  • 84.04 (n)
  • 88.84 (a)
oppossum
(Monodelphis domestica)
Mammalia LPIN1 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LPIN1 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves LPIN1 35
  • 71.63 (n)
  • 73.76 (a)
LPIN1 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LPIN1 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lpin1 35
  • 68.96 (n)
  • 73.16 (a)
zebrafish
(Danio rerio)
Actinopterygii lpin1 35
  • 64.93 (n)
  • 65.38 (a)
lpin1 36
  • 63 (a)
OneToMany
LPIN1 (2 of 2) 36
  • 62 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8709 37
  • 40 (a)
Lpin 36
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea H37A05.1 37
  • 43 (a)
lpin-1 36
  • 30 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PAH1 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
ManyToMany
-- 36
  • 55 (a)
ManyToMany
Species with no ortholog for LPIN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LPIN1 Gene

ENSEMBL:
Gene Tree for LPIN1 (if available)
TreeFam:
Gene Tree for LPIN1 (if available)

Paralogs for LPIN1 Gene

Paralogs for LPIN1 Gene

genes like me logo Genes that share paralogs with LPIN1: view

Variants for LPIN1 Gene

Sequence variations from dbSNP and Humsavar for LPIN1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs10700 -- 11,826,361(+) GCCAT(C/G)GATCG utr-variant-3-prime
rs11524 -- 11,826,191(+) TTCAT(C/T)GTTAG utr-variant-3-prime
rs567293 -- 11,731,324(-) aacac(A/C)gcatg intron-variant
rs756302 -- 11,790,274(-) ATCCT(C/G/T)ATCAT intron-variant
rs871674 -- 11,742,924(-) ACCAC(A/G)GGCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LPIN1 Gene

Variant ID Type Subtype PubMed ID
nsv2608 CNV Insertion 18451855
esv2719677 CNV Deletion 23290073
esv2719678 CNV Deletion 23290073
nsv833403 CNV Gain 17160897
nsv512767 CNV Insertion 21212237

Variation tolerance for LPIN1 Gene

Residual Variation Intolerance Score: 10.17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.95; 89.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LPIN1 Gene

HapMap Linkage Disequilibrium report
LPIN1
Human Gene Mutation Database (HGMD)
LPIN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LPIN1 Gene

Disorders for LPIN1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for LPIN1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
myoglobinuria, acute recurrent, autosomal recessive
  • myoglobinuria, familial paroxysmal paralytic
genetic recurrent myoglobinuria
hypopyon
sjogren-larsson syndrome
  • sjogren larsson syndrome
lipodystrophy
- elite association
Search LPIN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LPIN1_HUMAN
  • Myoglobinuria, acute recurrent, autosomal recessive (ARARM) [MIM:268200]: 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. {ECO:0000269 PubMed:18817903}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LPIN1

Genetic Association Database (GAD)
LPIN1
Human Genome Epidemiology (HuGE) Navigator
LPIN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LPIN1
genes like me logo Genes that share disorders with LPIN1: view

No data available for Genatlas for LPIN1 Gene

Publications for LPIN1 Gene

  1. Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin. (PMID: 11138012) PActerfy M. … Reue K. (Nat. Genet. 2001) 2 23 67
  2. The associations of LPIN1 gene expression in adipose tissue with metabolic phenotypes in the Chinese population. (PMID: 19543209) Chang Y.C. … Chuang L.M. (Obesity (Silver Spring) 2010) 23 67
  3. PPAR control: it's SIRTainly as easy as PGC. (PMID: 19770177) Sugden M.C. … Holness M.J. (J. Endocrinol. 2010) 23 67
  4. Insulin-stimulated interaction with 14-3-3 promotes cytoplasmic localization of lipin-1 in adipocytes. (PMID: 19955570) PActerfy M. … Reue K. (J. Biol. Chem. 2010) 23 67
  5. Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B. (PMID: 20032471) Zhong S. … Yao Z. (J. Biol. Chem. 2010) 23 67

Products for LPIN1 Gene

Sources for LPIN1 Gene

Back to Top

Content