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Protein

Phosphatidate phosphatase LPIN2

Gene

LPIN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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 to modulate lipid metabolism (By similarity).By similarity

Catalytic activityi

A 1,2-diacylglycerol 3-phosphate + H2O = a 1,2-diacyl-sn-glycerol + phosphate.

Cofactori

Mg2+By similarity

Enzyme regulationi

Inhibited by N-ethylmaleimide.By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Fatty acid metabolism, Lipid metabolism, Transcription, Transcription regulation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000101577-MONOMER.
ReactomeiR-HSA-1483191. Synthesis of PC.
R-HSA-1483213. Synthesis of PE.
R-HSA-4419969. Depolymerisation of the Nuclear Lamina.
R-HSA-75109. Triglyceride Biosynthesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphatidate phosphatase LPIN2 (EC:3.1.3.4)
Alternative name(s):
Lipin-2
Gene namesi
Name:LPIN2
Synonyms:KIAA0249
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:14450. LPIN2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Majeed syndrome (MJDS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by chronic recurrent multifocal osteomyelitis that is of early onset with a lifelong course, congenital dyserythropoietic anemia that presents as hypochromic, microcytic anemia during the first year of life and ranges from mild to transfusion-dependent, and transient inflammatory dermatosis, often manifesting as Sweet syndrome (neutrophilic skin infiltration).
See also OMIM:609628
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023817734S → L in MJDS. 1 PublicationCorresponds to variant rs80338807dbSNPEnsembl.1

Keywords - Diseasei

Congenital dyserythropoietic anemia, Disease mutation, Hereditary hemolytic anemia

Organism-specific databases

DisGeNETi9663.
MalaCardsiLPIN2.
MIMi609628. phenotype.
OpenTargetsiENSG00000101577.
Orphaneti77297. Majeed syndrome.
PharmGKBiPA30437.

Polymorphism and mutation databases

BioMutaiLPIN2.
DMDMi2495724.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002098811 – 896Phosphatidate phosphatase LPIN2Add BLAST896

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei106PhosphoserineCombined sources1
Modified residuei174PhosphoserineBy similarity1
Modified residuei186PhosphoserineBy similarity1
Modified residuei187PhosphoserineBy similarity1
Modified residuei243PhosphoserineCombined sources1
Modified residuei303PhosphoserineCombined sources1
Modified residuei566PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ92539.
MaxQBiQ92539.
PaxDbiQ92539.
PeptideAtlasiQ92539.
PRIDEiQ92539.

PTM databases

DEPODiQ92539.
iPTMnetiQ92539.
PhosphoSitePlusiQ92539.

Expressioni

Tissue specificityi

Expressed in liver, lung, kidney, placenta, spleen, thymus, lymph node, prostate, testes, small intestine, and colon.2 Publications

Gene expression databases

BgeeiENSG00000101577.
CleanExiHS_LPIN2.
ExpressionAtlasiQ92539. baseline and differential.
GenevisibleiQ92539. HS.

Organism-specific databases

HPAiCAB015223.
HPA017857.
HPA030550.

Interactioni

Protein-protein interaction databases

BioGridi115019. 3 interactors.
IntActiQ92539. 2 interactors.
STRINGi9606.ENSP00000261596.

Structurei

3D structure databases

ProteinModelPortaliQ92539.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 108N-LIPAdd BLAST108
Regioni635 – 837C-LIPAdd BLAST203

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi153 – 158Nuclear localization signalSequence analysis6
Motifi689 – 693DXDXT motif5
Motifi700 – 704LXXIL motif5

Domaini

Contains one Leu-Xaa-Xaa-Ile-Leu (LXXIL) motif, a motif known to be a transcriptional binding motif.By similarity

Sequence similaritiesi

Belongs to the lipin family.Curated

Phylogenomic databases

eggNOGiKOG2116. Eukaryota.
COG5083. LUCA.
GeneTreeiENSGT00390000011286.
HOGENOMiHOG000230954.
HOVERGENiHBG052338.
InParanoidiQ92539.
KOiK15728.
OMAiFRQWTES.
OrthoDBiEOG091G01AU.
PhylomeDBiQ92539.
TreeFamiTF314095.

Family and domain databases

Gene3Di3.40.50.1000. 1 hit.
InterProiIPR023214. HAD-like_dom.
IPR031703. Lipin_mid.
IPR007651. Lipin_N.
IPR013209. LNS2.
IPR031315. LNS2/PITP.
IPR026744. LPIN2.
[Graphical view]
PANTHERiPTHR12181:SF11. PTHR12181:SF11. 1 hit.
PfamiPF16876. Lipin_mid. 1 hit.
PF04571. Lipin_N. 1 hit.
PF08235. LNS2. 1 hit.
[Graphical view]
SMARTiSM00775. LNS2. 1 hit.
[Graphical view]
SUPFAMiSSF56784. SSF56784. 1 hit.

Sequencei

Sequence statusi: Complete.

Q92539-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNYVGQLAGQ VIVTVKELYK GINQATLSGC IDVIVVQQQD GSYQCSPFHV
60 70 80 90 100
RFGKLGVLRS KEKVIDIEIN GSAVDLHMKL GDNGEAFFVE ETEEEYEKLP
110 120 130 140 150
AYLATSPIPT EDQFFKDIDT PLVKSGGDET PSQSSDISHV LETETIFTPS
160 170 180 190 200
SVKKKKRRRK KYKQDSKKEE QAASAAAEDT CDVGVSSDDD KGAQAARGSS
210 220 230 240 250
NASLKEEECK EPLLFHSGDH YPLSDGDWSP LETTYPQTAC PKSDSELEVK
260 270 280 290 300
PAESLLRSES HMEWTWGGFP ESTKVSKRER SDHHPRTATI TPSENTHFRV
310 320 330 340 350
IPSEDNLISE VEKDASMEDT VCTIVKPKPR ALGTQMSDPT SVAELLEPPL
360 370 380 390 400
ESTQISSMLD ADHLPNAALA EAPSESKPAA KVDSPSKKKG VHKRSQHQGP
410 420 430 440 450
DDIYLDDLKG LEPEVAALYF PKSESEPGSR QWPESDTLSG SQSPQSVGSA
460 470 480 490 500
AADSGTECLS DSAMDLPDVT LSLCGGLSEN GEISKEKFME HIITYHEFAE
510 520 530 540 550
NPGLIDNPNL VIRIYNRYYN WALAAPMILS LQVFQKSLPK ATVESWVKDK
560 570 580 590 600
MPKKSGRWWF WRKRESMTKQ LPESKEGKSE APPASDLPSS SKEPAGARPA
610 620 630 640 650
ENDSSSDEGS QELEESITVD PIPTEPLSHG STTSYKKSLR LSSDQIAKLK
660 670 680 690 700
LHDGPNDVVF SITTQYQGTC RCAGTIYLWN WNDKIIISDI DGTITKSDAL
710 720 730 740 750
GQILPQLGKD WTHQGIAKLY HSINENGYKF LYCSARAIGM ADMTRGYLHW
760 770 780 790 800
VNDKGTILPR GPLMLSPSSL FSAFHREVIE KKPEKFKIEC LNDIKNLFAP
810 820 830 840 850
SKQPFYAAFG NRPNDVYAYT QVGVPDCRIF TVNPKGELIQ ERTKGNKSSY
860 870 880 890
HRLSELVEHV FPLLSKEQNS AFPCPEFSSF CYWRDPIPEV DLDDLS
Length:896
Mass (Da):99,399
Last modified:February 1, 1997 - v1
Checksum:i080113FCCA533272
GO

Sequence cautioni

The sequence BAA13380 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023817734S → L in MJDS. 1 PublicationCorresponds to variant rs80338807dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D87436 mRNA. Translation: BAA13380.2. Different initiation.
CH471113 Genomic DNA. Translation: EAX01686.1.
CH471113 Genomic DNA. Translation: EAX01687.1.
BC152448 mRNA. Translation: AAI52449.1.
CCDSiCCDS11829.1.
RefSeqiNP_055461.1. NM_014646.2.
XP_005258235.1. XM_005258178.3.
XP_005258236.1. XM_005258179.4.
XP_016881587.1. XM_017026098.1.
XP_016881588.1. XM_017026099.1.
UniGeneiHs.132342.

Genome annotation databases

EnsembliENST00000261596; ENSP00000261596; ENSG00000101577.
GeneIDi9663.
KEGGihsa:9663.
UCSCiuc002klo.3. human.

Cross-referencesi

Web resourcesi

INFEVERS

Repertory of FMF and hereditary autoinflammatory disorders mutations

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D87436 mRNA. Translation: BAA13380.2. Different initiation.
CH471113 Genomic DNA. Translation: EAX01686.1.
CH471113 Genomic DNA. Translation: EAX01687.1.
BC152448 mRNA. Translation: AAI52449.1.
CCDSiCCDS11829.1.
RefSeqiNP_055461.1. NM_014646.2.
XP_005258235.1. XM_005258178.3.
XP_005258236.1. XM_005258179.4.
XP_016881587.1. XM_017026098.1.
XP_016881588.1. XM_017026099.1.
UniGeneiHs.132342.

3D structure databases

ProteinModelPortaliQ92539.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115019. 3 interactors.
IntActiQ92539. 2 interactors.
STRINGi9606.ENSP00000261596.

PTM databases

DEPODiQ92539.
iPTMnetiQ92539.
PhosphoSitePlusiQ92539.

Polymorphism and mutation databases

BioMutaiLPIN2.
DMDMi2495724.

Proteomic databases

EPDiQ92539.
MaxQBiQ92539.
PaxDbiQ92539.
PeptideAtlasiQ92539.
PRIDEiQ92539.

Protocols and materials databases

DNASUi9663.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261596; ENSP00000261596; ENSG00000101577.
GeneIDi9663.
KEGGihsa:9663.
UCSCiuc002klo.3. human.

Organism-specific databases

CTDi9663.
DisGeNETi9663.
GeneCardsiLPIN2.
GeneReviewsiLPIN2.
HGNCiHGNC:14450. LPIN2.
HPAiCAB015223.
HPA017857.
HPA030550.
MalaCardsiLPIN2.
MIMi605519. gene.
609628. phenotype.
neXtProtiNX_Q92539.
OpenTargetsiENSG00000101577.
Orphaneti77297. Majeed syndrome.
PharmGKBiPA30437.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2116. Eukaryota.
COG5083. LUCA.
GeneTreeiENSGT00390000011286.
HOGENOMiHOG000230954.
HOVERGENiHBG052338.
InParanoidiQ92539.
KOiK15728.
OMAiFRQWTES.
OrthoDBiEOG091G01AU.
PhylomeDBiQ92539.
TreeFamiTF314095.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000101577-MONOMER.
ReactomeiR-HSA-1483191. Synthesis of PC.
R-HSA-1483213. Synthesis of PE.
R-HSA-4419969. Depolymerisation of the Nuclear Lamina.
R-HSA-75109. Triglyceride Biosynthesis.

Miscellaneous databases

GenomeRNAii9663.
PROiQ92539.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000101577.
CleanExiHS_LPIN2.
ExpressionAtlasiQ92539. baseline and differential.
GenevisibleiQ92539. HS.

Family and domain databases

Gene3Di3.40.50.1000. 1 hit.
InterProiIPR023214. HAD-like_dom.
IPR031703. Lipin_mid.
IPR007651. Lipin_N.
IPR013209. LNS2.
IPR031315. LNS2/PITP.
IPR026744. LPIN2.
[Graphical view]
PANTHERiPTHR12181:SF11. PTHR12181:SF11. 1 hit.
PfamiPF16876. Lipin_mid. 1 hit.
PF04571. Lipin_N. 1 hit.
PF08235. LNS2. 1 hit.
[Graphical view]
SMARTiSM00775. LNS2. 1 hit.
[Graphical view]
SUPFAMiSSF56784. SSF56784. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiLPIN2_HUMAN
AccessioniPrimary (citable) accession number: Q92539
Secondary accession number(s): A7MD25, D3DUH3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: February 1, 1997
Last modified: November 2, 2016
This is version 128 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.