Reviewed, UniProtKB/Swiss-Prot O15120 (PLCB_HUMAN)

Names and origin

Protein names

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 names

Name:

AGPAT2

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	278 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone.
Catalytic activity	Acyl-CoA + 1-acyl-sn-glycerol 3-phosphate = CoA + 1,2-diacyl-sn-glycerol 3-phosphate.
Pathway	Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 2/3.
Subcellular location	Membrane; Multi-pass membrane protein Potential.
Tissue specificity	Expressed predominantly in heart and liver.
Domain	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.
Involvement in disease	Defects in AGPAT2 are the cause of congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]; also known as Berardinelli-Seip congenital lipodystrophy type 1 (BSCL1) or Berardinelli-Seip syndrome. CGL1 is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. Ref.9
Sequence similarities	Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family.

Ontologies

Keywords
Biological process	Phospholipid biosynthesis
Cellular component	Membrane
Coding sequence diversity	Alternative splicing
Disease	Congenital generalized lipodystrophy Diabetes mellitus Disease mutation
Domain	Transmembrane
Molecular function	Acyltransferase Transferase
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	phosphatidic acid biosynthetic process Ref.3 Inferred from genetic interaction. Source: UniProtKB positive regulation of cytokine production Ref.3 Inferred from mutant phenotype. Source: UniProtKB positive regulation of cytokine-mediated signaling pathway Ref.3 Inferred by curator. Source: UniProtKB
Cellular component	cytosol Ref.1 Inferred from Experiment. Source: Reactome endoplasmic reticulum Inferred from sequence or structural similarity. Source: UniProtKB integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	1-acylglycerol-3-phosphate O-acyltransferase activity Ref.3 Non-traceable author statement. Source: UniProtKB phospholipid:diacylglycerol acyltransferase activity Ref.1 Inferred from Experiment. Source: Reactome
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O15120-1)

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.

Isoform 2 (identifier: O15120-2)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 278	278	1-acyl-sn-glycerol-3-phosphate acyltransferase beta		PRO_0000208192
Regions
	Transmembrane	1 – 21	21	Potential
	Transmembrane	30 – 50	21	Potential
	Transmembrane	122 – 142	21	Potential
	Motif	98 – 103	6	HXXXXD motif
Amino acid modifications
	Modified residue	255	1	Phosphothreonine By similarity
	Modified residue	260	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	165 – 196	32	Missing in isoform 2.		VSP_005071
	Natural variant	136	1	G → R in CGL1. Ref.9		VAR_017328
	Natural variant	140	1	Missing in CGL1.		VAR_017326
	Natural variant	228	1	L → P in CGL1. Ref.9		VAR_017327
	Natural variant	239	1	A → V in CGL1. Ref.9		VAR_017325
Experimental info
	Sequence conflict	126	1	L → V in AAB64299. Ref.2
	Sequence conflict	200	1	V → F in AAH00026. Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 1, 1998. Version 1. Checksum: 1E58F537F703BE9F	FASTA	278	30,914
	10 20 30 40 50 60 MELWPCLAAA LLLLLLLVQL SRAAEFYAKV ALYCALCFTV SAVASLVCLL RHGGRTVENM 70 80 90 100 110 120 SIIGWFVRSF KYFYGLRFEV RDPRRLQEAR PCVIVSNHQS ILDMMGLMEV LPERCVQIAK 130 140 150 160 170 180 RELLFLGPVG LIMYLGGVFF INRQRSSTAM TVMADLGERM VRENLKVWIY PEGTRNDNGD 190 200 210 220 230 240 LLPFKKGAFY LAVQAQVPIV PVVYSSFSSF YNTKKKFFTS GTVTVQVLEA IPTSGLTAAD 250 260 270 VPALVDTCHR AMRTTFLHIS KTPQENGATA GSGVQPAQ
	Isoform 2. Checksum: 2A6E877F48DC3FE9	FASTA	246	27,279
	10 20 30 40 50 60 MELWPCLAAA LLLLLLLVQL SRAAEFYAKV ALYCALCFTV SAVASLVCLL RHGGRTVENM 70 80 90 100 110 120 SIIGWFVRSF KYFYGLRFEV RDPRRLQEAR PCVIVSNHQS ILDMMGLMEV LPERCVQIAK 130 140 150 160 170 180 RELLFLGPVG LIMYLGGVFF INRQRSSTAM TVMADLGERM VRENVPIVPV VYSSFSSFYN 190 200 210 220 230 240 TKKKFFTSGT VTVQVLEAIP TSGLTAADVP ALVDTCHRAM RTTFLHISKT PQENGATAGS GVQPAQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 9242711] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[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: 9291118] [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: 9212163] [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: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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: 15489334] [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: 15028826] [Abstract] Cited for: REVIEW.
[9]	"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: 11967537] [Abstract] Cited for: VARIANTS CGL1 ARG-136; PHE-140 DEL; PRO-228 AND VAL-239.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00221372. IPI00464993.
RefSeq	NP_001012745.1. NP_006403.2.
UniGene	Hs.320151
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	O15120.
PTM databases
PhosphoSite	O15120.
Proteomic databases
PRIDE	O15120.
Genome annotation databases
Ensembl	ENST00000371696; ENSP00000360761; ENSG00000169692; Homo sapiens. [Genome view]
GeneID	10555.
KEGG	hsa:10555.
UCSC	uc004cii.1. human.
Organism-specific databases
CTD	10555.
GeneCards	GC09M138687.
H-InvDB	HIX0008552.
HGNC	HGNC:325. AGPAT2.
HPA	HPA019544.
MIM	603100. gene. 608594. phenotype.
Orphanet	528. Lipodystrophy, Berardinelli type.
PharmGKB	PA24622.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG12667.
HOVERGEN	O15120.
InParanoid	O15120.
OMA	EGTRNDN.
OrthoDB	EOG99GP2H.
PhylomeDB	O15120.
Enzyme and pathway databases
BioCyc	MetaCyc:ENSG00000169692-MONOMER.
BRENDA	2.3.1.51. 247.
Reactome	REACT_602. Metabolism of lipids and lipoproteins.
Gene expression databases
ArrayExpress	O15120.
Bgee	O15120.
CleanEx	HS_AGPAT2.
Genevestigator	O15120.
GermOnline	ENSG00000169692. Homo sapiens.
Family and domain databases
InterPro	IPR002123. Acyltransferase. IPR004552. AGP_acyltrans. [Graphical view]
Pfam	PF01553. Acyltransferase. 1 hit. [Graphical view]
SMART	SM00563. PlsC. 1 hit. [Graphical view]
TIGRFAMs	TIGR00530. AGP_acyltrn. 1 hit.
ProtoNet	Search...
Other Resources
NextBio	40047.
SOURCE	Search...

Entry information

Entry name

PLCB_HUMAN

Accession

Primary (citable) accession number: O15120
Secondary accession number(s): O00516 , O15106, Q5VUD3, Q5VUD4, Q9BSV7, Q9BWR7

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 15, 1998
Last sequence update:	January 1, 1998
Last modified:	February 9, 2010
This is version 92 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.