Seroatlas · Human Serome Atlas

LPIN1

Phosphatidate phosphatase LPIN1

Also known as: KIAA0188, LPIN1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q14693
Gene
LPIN1
Ensembl
ENSG00000134324
Chromosome
2
Canonical length
890 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Plasma membrane,Cytosol

OverviewNCBI 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, acute recurrent rhabdomyolysis, and autosomal recessive acute recurrent myoglobinuria (ARARM). This gene is also a candidate for several human lipodystrophy syndromes. [provided by RefSeq, Mar 2017]

Canonical amino-acid sequenceUniProt

890 residues, UniProt reviewed canonical sequence.

>Q14693|LPIN1
     1  MNYVGQLAGQ VFVTVKELYK GLNPATLSGC IDIIVIRQPN GNLQCSPFHV RFGKMGVLRS
    61  REKVVDIEIN GESVDLHMKL GDNGEAFFVQ ETDNDQEVIP MHLATSPILS EGASRMECQL
   121  KRGSVDRMRG LDPSTPAQVI APSETPSSSS VVKKRRKRRR KSQLDSLKRD DNMNTSEDED
   181  MFPIEMSSDE AMELLESSRT LPNDIPPFQD DIPEENLSLA VIYPQSASYP NSDREWSPTP
   241  SPSGSRPSTP KSDSELVSKS TERTGQKNPE MLWLWGELPQ AAKSSSPHKM KESSPLSSRK
   301  ICDKSHFQAI HSESSDTFSD QSPTLVGGAL LDQNKPQTEM QFVNEEDLET LGAAAPLLPM
   361  IEELKPPSAS VVQTANKTDS PSRKRDKRSR HLGADGVYLD DLTDMDPEVA ALYFPKNGDP
   421  SGLAKHASDN GARSANQSPQ SVGSSGVDSG VESTSDGLRD LPSIAISLCG GLSDHREITK
   481  DAFLEQAVSY QQFVDNPAII DDPNLVVKIG SKYYNWTTAA PLLLAMQAFQ KPLPKATVES
   541  IMRDKMPKKG GRWWFSWRGR NTTIKEESKP EQCLAGKAHS TGEQPPQLSL ATRVKHESSS
   601  SDEERAAAKP SNAGHLPLLP NVSYKKTLRL TSEQLKSLKL KNGPNDVVFS VTTQYQGTCR
   661  CEGTIYLWNW DDKVIISDID GTITRSDTLG HILPTLGKDW THQGIAKLYH KVSQNGYKFL
   721  YCSARAIGMA DMTRGYLHWV NERGTVLPQG PLLLSPSSLF SALHREVIEK KPEKFKVQCL
   781  TDIKNLFFPN TEPFYAAFGN RPADVYSYKQ VGVSLNRIFT VNPKGELVQE HAKTNISSYV
   841  RLCEVVDHVF PLLKRSHSSD FPCSDTFSNF TFWREPLPPF ENQDIHSASA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LPIN1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.51
Highest tissue expression
180 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 180 nTPM
  • tongue: 128 nTPM
  • testis: 53 nTPM
  • esophagus: 39 nTPM
  • breast: 36 nTPM
  • adipose tissue: 34 nTPM

Single-cell type

  • late spermatids: 3,298 nCPM
  • esophageal apical cells: 1,073 nCPM
  • early spermatids: 470 nCPM
  • thymic myoid cells: 402 nCPM
  • astrocytes: 367 nCPM
  • breast lactating cells: 292 nCPM

Immune cell

  • eosinophil: 13 nTPM
  • T-reg: 12 nTPM
  • MAIT T-cell: 11 nTPM
  • basophil: 11 nTPM
  • gdT-cell: 10 nTPM
  • plasmacytoid DC: 10 nTPM

Brain region

  • midbrain: 97 nTPM
  • thalamus: 91 nTPM
  • pons: 89 nTPM
  • hypothalamus: 82 nTPM
  • basal ganglia: 78 nTPM
  • amygdala: 77 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LPIN1.

Disease | AllUniProt

Conditions LPIN1 is implicated in, by any mechanism.

  • Myoglobinuria, acute recurrent, autosomal recessive (ARARM) MIM:268200

Disease | GeneticClinVar

55 pathogenic / likely-pathogenic of 867 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Myoglobinuria, acute recurrent, autosomal recessive
  • See cases
  • Acute rhabdomyolysis
  • LPIN1-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.73
gnomAD pLI
0
gnomAD missense Z
0.87
DepMap mean gene effect
0.06
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of LPIN1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads LPIN1 as an antibody target. Whether an autoantibody or antibody against LPIN1 could matter depends on whether native LPIN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LPIN1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label LPIN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/LPIN1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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