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Q92539

- LPIN2_HUMAN

UniProt

Q92539 - LPIN2_HUMAN

Protein

Phosphatidate phosphatase LPIN2

Gene

LPIN2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 1 (01 Feb 1997)
      Previous versions | rss
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    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

    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

    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

    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).1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 – 1061PhosphoserineBy similarity
    Modified residuei186 – 1861PhosphoserineBy similarity
    Modified residuei187 – 1871PhosphoserineBy 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.
    ModBaseiSearch...
    MobiDBiSearch...

    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 signalSequence Analysis
    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.Curated

    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

    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: October 1, 2014
    This is version 108 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