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O15120

- PLCB_HUMAN

UniProt

O15120 - PLCB_HUMAN

Protein

1-acyl-sn-glycerol-3-phosphate acyltransferase beta

Gene

AGPAT2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 135 (01 Oct 2014)
      Sequence version 1 (01 Jan 1998)
      Previous versions | rss
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    Functioni

    Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone.3 Publications

    Catalytic activityi

    Acyl-CoA + 1-acyl-sn-glycerol 3-phosphate = CoA + 1,2-diacyl-sn-glycerol 3-phosphate.3 Publications

    Pathwayi

    GO - Molecular functioni

    1. 1-acylglycerol-3-phosphate O-acyltransferase activity Source: UniProtKB

    GO - Biological processi

    1. CDP-diacylglycerol biosynthetic process Source: UniProtKB-UniPathway
    2. cellular lipid metabolic process Source: Reactome
    3. epidermis development Source: Ensembl
    4. glycerophospholipid biosynthetic process Source: Reactome
    5. phosphatidic acid biosynthetic process Source: BHF-UCL
    6. phospholipid metabolic process Source: UniProtKB
    7. positive regulation of cytokine-mediated signaling pathway Source: BHF-UCL
    8. positive regulation of cytokine production Source: BHF-UCL
    9. small molecule metabolic process Source: Reactome
    10. triglyceride biosynthetic process Source: Reactome

    Keywords - Molecular functioni

    Acyltransferase, Transferase

    Keywords - Biological processi

    Lipid biosynthesis, Lipid metabolism, Phospholipid biosynthesis, Phospholipid metabolism

    Enzyme and pathway databases

    BioCyciMetaCyc:HS09990-MONOMER.
    BRENDAi2.3.1.51. 2681.
    ReactomeiREACT_1190. Triglyceride Biosynthesis.
    REACT_120906. Synthesis of PA.
    UniPathwayiUPA00557; UER00613.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    1-acyl-sn-glycerol-3-phosphate acyltransferase beta (EC:2.3.1.51)
    Alternative name(s):
    1-acylglycerol-3-phosphate O-acyltransferase 2
    Short name:
    1-AGP acyltransferase 2
    Short name:
    1-AGPAT 2
    Lysophosphatidic acid acyltransferase beta
    Short name:
    LPAAT-beta
    Gene namesi
    Name:AGPAT2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:325. AGPAT2.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProtKB
    2. endoplasmic reticulum membrane Source: Reactome
    3. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594]: An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti136 – 1361G → R in CGL1; reduced 1-acyl-sn-glycerol-3-phosphate acyltransferase activity. 1 Publication
    VAR_017328
    Natural varianti140 – 1401Missing in CGL1; reduced 1-acyl-sn-glycerol-3-phosphate acyltransferase activity. 1 Publication
    VAR_017326
    Natural varianti228 – 2281L → P in CGL1; reduced 1-acyl-sn-glycerol-3-phosphate acyltransferase activity. 1 Publication
    VAR_017327
    Natural varianti239 – 2391A → V in CGL1; 90% of wild-type 1-acyl-sn-glycerol-3-phosphate acyltransferase activity. 1 Publication
    Corresponds to variant rs145975461 [ dbSNP | Ensembl ].
    VAR_017325

    Keywords - Diseasei

    Congenital generalized lipodystrophy, Diabetes mellitus, Disease mutation

    Organism-specific databases

    MIMi608594. phenotype.
    Orphaneti528. Berardinelli-Seip congenital lipodystrophy.
    PharmGKBiPA24622.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2323Sequence AnalysisAdd
    BLAST
    Chaini24 – 2782551-acyl-sn-glycerol-3-phosphate acyltransferase betaPRO_0000208192Add
    BLAST

    Proteomic databases

    MaxQBiO15120.
    PaxDbiO15120.
    PRIDEiO15120.

    PTM databases

    PhosphoSiteiO15120.

    Expressioni

    Tissue specificityi

    Expressed predominantly in adipose tissue, pancreas and liver.1 Publication

    Gene expression databases

    ArrayExpressiO15120.
    BgeeiO15120.
    CleanExiHS_AGPAT2.
    GenevestigatoriO15120.

    Organism-specific databases

    HPAiHPA019544.

    Interactioni

    Protein-protein interaction databases

    BioGridi115806. 7 interactions.
    IntActiO15120. 6 interactions.
    STRINGi9606.ENSP00000360761.

    Structurei

    3D structure databases

    ProteinModelPortaliO15120.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei30 – 5021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei122 – 14221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei187 – 20721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi98 – 1036HXXXXD motif
    Motifi172 – 1754EGTR motif

    Domaini

    The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate.By similarity

    Sequence similaritiesi

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0204.
    HOVERGENiHBG000676.
    InParanoidiO15120.
    KOiK13509.
    OMAiMFTHTAV.
    OrthoDBiEOG780RNF.
    PhylomeDBiO15120.
    TreeFamiTF314867.

    Family and domain databases

    InterProiIPR004552. AGP_acyltrans.
    IPR002123. Plipid/glycerol_acylTrfase.
    [Graphical view]
    PfamiPF01553. Acyltransferase. 1 hit.
    [Graphical view]
    SMARTiSM00563. PlsC. 1 hit.
    [Graphical view]
    TIGRFAMsiTIGR00530. AGP_acyltrn. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O15120-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MELWPCLAAA LLLLLLLVQL SRAAEFYAKV ALYCALCFTV SAVASLVCLL    50
    RHGGRTVENM SIIGWFVRSF KYFYGLRFEV RDPRRLQEAR PCVIVSNHQS 100
    ILDMMGLMEV LPERCVQIAK RELLFLGPVG LIMYLGGVFF INRQRSSTAM 150
    TVMADLGERM VRENLKVWIY PEGTRNDNGD LLPFKKGAFY LAVQAQVPIV 200
    PVVYSSFSSF YNTKKKFFTS GTVTVQVLEA IPTSGLTAAD VPALVDTCHR 250
    AMRTTFLHIS KTPQENGATA GSGVQPAQ 278
    Length:278
    Mass (Da):30,914
    Last modified:January 1, 1998 - v1
    Checksum:i1E58F537F703BE9F
    GO
    Isoform 2 (identifier: O15120-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         165-196: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:246
    Mass (Da):27,279
    Checksum:i2A6E877F48DC3FE9
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti126 – 1261L → V in AAB64299. (PubMed:9291118)Curated
    Sequence conflicti200 – 2001V → F in AAH00026. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti136 – 1361G → R in CGL1; reduced 1-acyl-sn-glycerol-3-phosphate acyltransferase activity. 1 Publication
    VAR_017328
    Natural varianti140 – 1401Missing in CGL1; reduced 1-acyl-sn-glycerol-3-phosphate acyltransferase activity. 1 Publication
    VAR_017326
    Natural varianti228 – 2281L → P in CGL1; reduced 1-acyl-sn-glycerol-3-phosphate acyltransferase activity. 1 Publication
    VAR_017327
    Natural varianti239 – 2391A → V in CGL1; 90% of wild-type 1-acyl-sn-glycerol-3-phosphate acyltransferase activity. 1 Publication
    Corresponds to variant rs145975461 [ dbSNP | Ensembl ].
    VAR_017325

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei165 – 19632Missing in isoform 2. 1 PublicationVSP_005071Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF000237 mRNA. Translation: AAC51649.1.
    AF011374 mRNA. Translation: AAB64299.1.
    U56418 mRNA. Translation: AAB58776.2.
    AL590226 Genomic DNA. Translation: CAH71722.1.
    AL590226 Genomic DNA. Translation: CAH71723.1.
    CH471090 Genomic DNA. Translation: EAW88249.1.
    CH471090 Genomic DNA. Translation: EAW88251.1.
    BC000026 mRNA. Translation: AAH00026.1.
    BC004529 mRNA. Translation: AAH04529.1.
    CCDSiCCDS35181.1. [O15120-2]
    CCDS7003.1. [O15120-1]
    RefSeqiNP_001012745.1. NM_001012727.1. [O15120-2]
    NP_006403.2. NM_006412.3. [O15120-1]
    UniGeneiHs.320151.

    Genome annotation databases

    EnsembliENST00000371694; ENSP00000360759; ENSG00000169692. [O15120-2]
    ENST00000371696; ENSP00000360761; ENSG00000169692. [O15120-1]
    ENST00000538402; ENSP00000438919; ENSG00000169692. [O15120-1]
    GeneIDi10555.
    KEGGihsa:10555.
    UCSCiuc004cii.1. human. [O15120-1]
    uc004cij.1. human. [O15120-2]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF000237 mRNA. Translation: AAC51649.1 .
    AF011374 mRNA. Translation: AAB64299.1 .
    U56418 mRNA. Translation: AAB58776.2 .
    AL590226 Genomic DNA. Translation: CAH71722.1 .
    AL590226 Genomic DNA. Translation: CAH71723.1 .
    CH471090 Genomic DNA. Translation: EAW88249.1 .
    CH471090 Genomic DNA. Translation: EAW88251.1 .
    BC000026 mRNA. Translation: AAH00026.1 .
    BC004529 mRNA. Translation: AAH04529.1 .
    CCDSi CCDS35181.1. [O15120-2 ]
    CCDS7003.1. [O15120-1 ]
    RefSeqi NP_001012745.1. NM_001012727.1. [O15120-2 ]
    NP_006403.2. NM_006412.3. [O15120-1 ]
    UniGenei Hs.320151.

    3D structure databases

    ProteinModelPortali O15120.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115806. 7 interactions.
    IntActi O15120. 6 interactions.
    STRINGi 9606.ENSP00000360761.

    Chemistry

    BindingDBi O15120.
    ChEMBLi CHEMBL4772.

    PTM databases

    PhosphoSitei O15120.

    Proteomic databases

    MaxQBi O15120.
    PaxDbi O15120.
    PRIDEi O15120.

    Protocols and materials databases

    DNASUi 10555.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000371694 ; ENSP00000360759 ; ENSG00000169692 . [O15120-2 ]
    ENST00000371696 ; ENSP00000360761 ; ENSG00000169692 . [O15120-1 ]
    ENST00000538402 ; ENSP00000438919 ; ENSG00000169692 . [O15120-1 ]
    GeneIDi 10555.
    KEGGi hsa:10555.
    UCSCi uc004cii.1. human. [O15120-1 ]
    uc004cij.1. human. [O15120-2 ]

    Organism-specific databases

    CTDi 10555.
    GeneCardsi GC09M139567.
    GeneReviewsi AGPAT2.
    HGNCi HGNC:325. AGPAT2.
    HPAi HPA019544.
    MIMi 603100. gene.
    608594. phenotype.
    neXtProti NX_O15120.
    Orphaneti 528. Berardinelli-Seip congenital lipodystrophy.
    PharmGKBi PA24622.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0204.
    HOVERGENi HBG000676.
    InParanoidi O15120.
    KOi K13509.
    OMAi MFTHTAV.
    OrthoDBi EOG780RNF.
    PhylomeDBi O15120.
    TreeFami TF314867.

    Enzyme and pathway databases

    UniPathwayi UPA00557 ; UER00613 .
    BioCyci MetaCyc:HS09990-MONOMER.
    BRENDAi 2.3.1.51. 2681.
    Reactomei REACT_1190. Triglyceride Biosynthesis.
    REACT_120906. Synthesis of PA.

    Miscellaneous databases

    GeneWikii AGPAT2.
    GenomeRNAii 10555.
    NextBioi 40047.
    PROi O15120.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O15120.
    Bgeei O15120.
    CleanExi HS_AGPAT2.
    Genevestigatori O15120.

    Family and domain databases

    InterProi IPR004552. AGP_acyltrans.
    IPR002123. Plipid/glycerol_acylTrfase.
    [Graphical view ]
    Pfami PF01553. Acyltransferase. 1 hit.
    [Graphical view ]
    SMARTi SM00563. PlsC. 1 hit.
    [Graphical view ]
    TIGRFAMsi TIGR00530. AGP_acyltrn. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Human lysophosphatidic acid acyltransferase. cDNA cloning, expression, and localization to chromosome 9q34.3."
      Eberhardt C., Gray P.W., Tjoelker L.W.
      J. Biol. Chem. 272:20299-20305(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, CATALYTIC ACTIVITY.
    2. "A human cDNA sequence with homology to non-mammalian lysophosphatidic acid acyltransferases."
      Stamps A.C., Elmore M.A., Hill M.E., Kelly K., Makda A.A., Finnen M.J.
      Biochem. J. 326:455-461(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. "Cloning and expression of two human lysophosphatidic acid acyltransferase cDNAs that enhance cytokine-induced signaling responses in cells."
      West J., Tompkins C.K., Balantac N., Nudelman E., Meengs B., White T., Bursten S., Coleman J., Kumar A., Singer J.W., Leung D.W.
      DNA Cell Biol. 16:691-701(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    4. Leung D.W., Tompkin C.K., West J.
      Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION TO 51.
    5. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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] (ISOFORMS 1 AND 2).
      Tissue: Kidney and Skin.
    8. "Acquired and inherited lipodystrophies."
      Garg A.
      N. Engl. J. Med. 350:1220-1234(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW.
    9. "Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy."
      Haque W., Garg A., Agarwal A.K.
      Biochem. Biophys. Res. Commun. 327:446-453(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, CATALYTIC ACTIVITY, CHARACTERIZATION OF VARIANTS CGL1 ARG-136; PHE-140 DEL; PRO-228 AND VAL-239.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "Human 1-acylglycerol-3-phosphate O-acyltransferase isoforms 1 and 2: biochemical characterization and inability to rescue hepatic steatosis in Agpat2(-/-) gene lipodystrophic mice."
      Agarwal A.K., Sukumaran S., Cortes V.A., Tunison K., Mizrachi D., Sankella S., Gerard R.D., Horton J.D., Garg A.
      J. Biol. Chem. 286:37676-37691(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, CATALYTIC ACTIVITY, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    12. "AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34."
      Agarwal A.K., Arioglu E., de Almeida S., Akkoc N., Taylor S.I., Bowcock A.M., Barnes R.I., Garg A.
      Nat. Genet. 31:21-23(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CGL1 ARG-136; PHE-140 DEL; PRO-228 AND VAL-239.

    Entry informationi

    Entry nameiPLCB_HUMAN
    AccessioniPrimary (citable) accession number: O15120
    Secondary accession number(s): O00516
    , O15106, Q5VUD3, Q5VUD4, Q9BSV7, Q9BWR7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 15, 1998
    Last sequence update: January 1, 1998
    Last modified: October 1, 2014
    This is version 135 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 9
      Human chromosome 9: 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3