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Q92539

- LPIN2_HUMAN

UniProt

Q92539 - LPIN2_HUMAN

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Protein

Phosphatidate phosphatase LPIN2

Gene
LPIN2, KIAA0249
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

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

  1. phosphatidate phosphatase activity Source: UniProtKB
  2. transcription coactivator activity Source: UniProtKB

GO - Biological processi

  1. cellular lipid metabolic process Source: Reactome
  2. dephosphorylation Source: GOC
  3. fatty acid metabolic process Source: UniProtKB-KW
  4. glycerophospholipid biosynthetic process Source: Reactome
  5. lipid metabolic process Source: UniProtKB
  6. phosphatidylcholine biosynthetic process Source: Reactome
  7. phosphatidylethanolamine biosynthetic process Source: Reactome
  8. phospholipid metabolic process Source: Reactome
  9. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  10. small molecule metabolic process Source: Reactome
  11. transcription, DNA-templated Source: UniProtKB-KW
  12. triglyceride biosynthetic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Fatty acid metabolism, Lipid metabolism, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiREACT_1190. Triglyceride Biosynthesis.
REACT_120919. Synthesis of PE.
REACT_121238. Synthesis of PC.
REACT_200828. Depolymerisation of the Nuclear Lamina.

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
ProteomesiUP000005640: Chromosome 18

Organism-specific databases

HGNCiHGNC:14450. LPIN2.

Subcellular locationi

Nucleus By similarity. Cytoplasmcytosol By similarity. Endoplasmic reticulum membrane By similarity
Note: Translocates to endoplasmic reticulum membrane with increasing levels of oleate By similarity.

GO - Cellular componenti

  1. cytosol Source: UniProtKB-SubCell
  2. endoplasmic reticulum membrane Source: Reactome
  3. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Majeed syndrome (MAJEEDS) [MIM:609628]: An 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).
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti734 – 7341S → L in MAJEEDS. 1 Publication
VAR_023817

Keywords - Diseasei

Congenital dyserythropoietic anemia, Disease mutation, Hereditary hemolytic anemia

Organism-specific databases

MIMi609628. phenotype.
Orphaneti77297. Majeed syndrome.
PharmGKBiPA30437.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 896896Phosphatidate phosphatase LPIN2PRO_0000209881Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei106 – 1061Phosphoserine By similarity
Modified residuei186 – 1861Phosphoserine By similarity
Modified residuei187 – 1871Phosphoserine By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ92539.
PaxDbiQ92539.
PRIDEiQ92539.

PTM databases

PhosphoSiteiQ92539.

Expressioni

Tissue specificityi

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

Gene expression databases

ArrayExpressiQ92539.
BgeeiQ92539.
CleanExiHS_LPIN2.
GenevestigatoriQ92539.

Organism-specific databases

HPAiCAB015223.
HPA017857.
HPA030550.

Interactioni

Protein-protein interaction databases

BioGridi115019. 2 interactions.
IntActiQ92539. 2 interactions.
STRINGi9606.ENSP00000261596.

Structurei

3D structure databases

ProteinModelPortaliQ92539.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 108108N-LIPAdd
BLAST
Regioni635 – 837203C-LIPAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi153 – 1586Nuclear localization signal Reviewed prediction
Motifi689 – 6935DXDXT motif
Motifi700 – 7045LXXIL motif

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.

Phylogenomic databases

eggNOGiCOG5083.
HOGENOMiHOG000230954.
HOVERGENiHBG052338.
InParanoidiQ92539.
KOiK15728.
OMAiEDTVCTI.
OrthoDBiEOG7QZG8X.
PhylomeDBiQ92539.
TreeFamiTF314095.

Family and domain databases

Gene3Di3.40.50.1000. 1 hit.
InterProiIPR023214. HAD-like_dom.
IPR007651. Lipin_N.
IPR013209. LNS2.
IPR026744. LPIN2.
[Graphical view]
PANTHERiPTHR12181:SF11. PTHR12181:SF11. 1 hit.
PfamiPF04571. 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

MNYVGQLAGQ VIVTVKELYK GINQATLSGC IDVIVVQQQD GSYQCSPFHV    50
RFGKLGVLRS KEKVIDIEIN GSAVDLHMKL GDNGEAFFVE ETEEEYEKLP 100
AYLATSPIPT EDQFFKDIDT PLVKSGGDET PSQSSDISHV LETETIFTPS 150
SVKKKKRRRK KYKQDSKKEE QAASAAAEDT CDVGVSSDDD KGAQAARGSS 200
NASLKEEECK EPLLFHSGDH YPLSDGDWSP LETTYPQTAC PKSDSELEVK 250
PAESLLRSES HMEWTWGGFP ESTKVSKRER SDHHPRTATI TPSENTHFRV 300
IPSEDNLISE VEKDASMEDT VCTIVKPKPR ALGTQMSDPT SVAELLEPPL 350
ESTQISSMLD ADHLPNAALA EAPSESKPAA KVDSPSKKKG VHKRSQHQGP 400
DDIYLDDLKG LEPEVAALYF PKSESEPGSR QWPESDTLSG SQSPQSVGSA 450
AADSGTECLS DSAMDLPDVT LSLCGGLSEN GEISKEKFME HIITYHEFAE 500
NPGLIDNPNL VIRIYNRYYN WALAAPMILS LQVFQKSLPK ATVESWVKDK 550
MPKKSGRWWF WRKRESMTKQ LPESKEGKSE APPASDLPSS SKEPAGARPA 600
ENDSSSDEGS QELEESITVD PIPTEPLSHG STTSYKKSLR LSSDQIAKLK 650
LHDGPNDVVF SITTQYQGTC RCAGTIYLWN WNDKIIISDI DGTITKSDAL 700
GQILPQLGKD WTHQGIAKLY HSINENGYKF LYCSARAIGM ADMTRGYLHW 750
VNDKGTILPR GPLMLSPSSL FSAFHREVIE KKPEKFKIEC LNDIKNLFAP 800
SKQPFYAAFG NRPNDVYAYT QVGVPDCRIF TVNPKGELIQ ERTKGNKSSY 850
HRLSELVEHV FPLLSKEQNS AFPCPEFSSF CYWRDPIPEV DLDDLS 896
Length:896
Mass (Da):99,399
Last modified:February 1, 1997 - v1
Checksum:i080113FCCA533272
GO

Sequence cautioni

The sequence BAA13380.2 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti734 – 7341S → L in MAJEEDS. 1 Publication
VAR_023817

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_005258178.1.
XP_005258236.1. XM_005258179.2.
XP_006722431.1. XM_006722368.1.
UniGeneiHs.132342.

Genome annotation databases

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

Polymorphism databases

DMDMi2495724.

Cross-referencesi

Web resourcesi

INFEVERS

Repertory of FMF and hereditary autoinflammatory disorders mutations

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS11829.1.
RefSeqi NP_055461.1. NM_014646.2.
XP_005258235.1. XM_005258178.1.
XP_005258236.1. XM_005258179.2.
XP_006722431.1. XM_006722368.1.
UniGenei Hs.132342.

3D structure databases

ProteinModelPortali Q92539.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115019. 2 interactions.
IntActi Q92539. 2 interactions.
STRINGi 9606.ENSP00000261596.

PTM databases

PhosphoSitei Q92539.

Polymorphism databases

DMDMi 2495724.

Proteomic databases

MaxQBi Q92539.
PaxDbi Q92539.
PRIDEi Q92539.

Protocols and materials databases

DNASUi 9663.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000261596 ; ENSP00000261596 ; ENSG00000101577 .
GeneIDi 9663.
KEGGi hsa:9663.
UCSCi uc002klo.3. human.

Organism-specific databases

CTDi 9663.
GeneCardsi GC18M002906.
GeneReviewsi LPIN2.
HGNCi HGNC:14450. LPIN2.
HPAi CAB015223.
HPA017857.
HPA030550.
MIMi 605519. gene.
609628. phenotype.
neXtProti NX_Q92539.
Orphaneti 77297. Majeed syndrome.
PharmGKBi PA30437.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5083.
HOGENOMi HOG000230954.
HOVERGENi HBG052338.
InParanoidi Q92539.
KOi K15728.
OMAi EDTVCTI.
OrthoDBi EOG7QZG8X.
PhylomeDBi Q92539.
TreeFami TF314095.

Enzyme and pathway databases

Reactomei REACT_1190. Triglyceride Biosynthesis.
REACT_120919. Synthesis of PE.
REACT_121238. Synthesis of PC.
REACT_200828. Depolymerisation of the Nuclear Lamina.

Miscellaneous databases

GenomeRNAii 9663.
NextBioi 36287.
PROi Q92539.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q92539.
Bgeei Q92539.
CleanExi HS_LPIN2.
Genevestigatori Q92539.

Family and domain databases

Gene3Di 3.40.50.1000. 1 hit.
InterProi IPR023214. HAD-like_dom.
IPR007651. Lipin_N.
IPR013209. LNS2.
IPR026744. LPIN2.
[Graphical view ]
PANTHERi PTHR12181:SF11. PTHR12181:SF11. 1 hit.
Pfami PF04571. Lipin_N. 1 hit.
PF08235. LNS2. 1 hit.
[Graphical view ]
SMARTi SM00775. LNS2. 1 hit.
[Graphical view ]
SUPFAMi SSF56784. SSF56784. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain."
    Nagase T., Seki N., Ishikawa K., Ohira M., Kawarabayasi Y., Ohara O., Tanaka A., Kotani H., Miyajima N., Nomura N.
    DNA Res. 3:321-329(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Bone marrow.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  5. "Three mammalian lipins act as phosphatidate phosphatases with distinct tissue expression patterns."
    Donkor J., Sariahmetoglu M., Dewald J., Brindley D.N., Reue K.
    J. Biol. Chem. 282:3450-3457(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Platelet.
  7. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)."
    Ferguson P.J., Chen S., Tayeh M.K., Ochoa L., Leal S.M., Pelet A., Munnich A., Lyonnet S., Majeed H.A., El-Shanti H.
    J. Med. Genet. 42:551-557(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MAJEEDS LEU-734, TISSUE SPECIFICITY.

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: September 3, 2014
This is version 107 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

External Data

Dasty 3

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