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O15120

- PLCB_HUMAN

UniProt

O15120 - PLCB_HUMAN

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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

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiO15120.
CleanExiHS_AGPAT2.
ExpressionAtlasiO15120. baseline and differential.
GenevestigatoriO15120.

Organism-specific databases

HPAiHPA019544.

Interactioni

Protein-protein interaction databases

BioGridi115806. 8 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.
GeneTreeiENSGT00390000008726.
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) [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

        10         20         30         40         50
MELWPCLAAA LLLLLLLVQL SRAAEFYAKV ALYCALCFTV SAVASLVCLL
60 70 80 90 100
RHGGRTVENM SIIGWFVRSF KYFYGLRFEV RDPRRLQEAR PCVIVSNHQS
110 120 130 140 150
ILDMMGLMEV LPERCVQIAK RELLFLGPVG LIMYLGGVFF INRQRSSTAM
160 170 180 190 200
TVMADLGERM VRENLKVWIY PEGTRNDNGD LLPFKKGAFY LAVQAQVPIV
210 220 230 240 250
PVVYSSFSSF YNTKKKFFTS GTVTVQVLEA IPTSGLTAAD VPALVDTCHR
260 270
AMRTTFLHIS KTPQENGATA GSGVQPAQ
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. 8 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.
GeneTreei ENSGT00390000008726.
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

Bgeei O15120.
CleanExi HS_AGPAT2.
ExpressionAtlasi O15120. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 136 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