Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 10555, updated on 19-Jul-2014
Official Symbol
AGPAT2provided by HGNC
Official Full Name
1-acylglycerol-3-phosphate O-acyltransferase 2provided by HGNC
Primary source
HGNC:325
See related
Ensembl:ENSG00000169692; HPRD:04373; MIM:603100; Vega:OTTHUMG00000020936
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BSCL; BSCL1; LPAAB; 1-AGPAT2; LPAAT-beta
Summary
This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
See AGPAT2 in Epigenomics, MapViewer
Location:
9q34.3
Exon count :
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 9 NC_000009.12 (136673143..136687459, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139567595..139581911, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724193 Neighboring gene uncharacterized LOC101928612 Neighboring gene EGF-like-domain, multiple 7 Neighboring gene microRNA 126 Neighboring gene family with sequence similarity 69, member B Neighboring gene small nucleolar RNA, H/ACA box 43 Neighboring gene small nucleolar RNA host gene 7 (non-protein coding)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
1-acylglycerol-3-phosphate O-acyltransferase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
1-acylglycerol-3-phosphate O-acyltransferase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
CDP-diacylglycerol biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
cellular lipid metabolic process TAS
Traceable Author Statement
more info
 
epidermis development IEA
Inferred from Electronic Annotation
more info
 
glycerophospholipid biosynthetic process TAS
Traceable Author Statement
more info
 
phosphatidic acid biosynthetic process IGI
Inferred from Genetic Interaction
more info
PubMed 
phosphatidic acid biosynthetic process TAS
Traceable Author Statement
more info
 
phospholipid metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
phospholipid metabolic process TAS
Traceable Author Statement
more info
 
positive regulation of cytokine production IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cytokine-mediated signaling pathway IC
Inferred by Curator
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
triglyceride biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
1-acyl-sn-glycerol-3-phosphate acyltransferase beta
Names
1-acyl-sn-glycerol-3-phosphate acyltransferase beta
1-AGPAT 2
1-AGP acyltransferase 2
lysophosphatidic acid acyltransferase beta
lysophosphatidic acid acyltransferase-beta
1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)
NP_001012745.1
NP_006403.2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008090.1 

    Range
    5001..19317
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001012727.1NP_001012745.1  1-acyl-sn-glycerol-3-phosphate acyltransferase beta isoform b precursor

    See proteins identical to NP_001012745.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b).
    Source sequence(s)
    AL590226, BC000026, BC004529, BF347518, CN407343
    Consensus CDS
    CCDS35181.1
    UniProtKB/Swiss-Prot
    O15120
    Related
    ENSP00000360759, OTTHUMP00000022596, ENST00000371694, OTTHUMT00000055091
    Conserved Domains (1) summary
    cd07989
    Location:67217
    Blast Score: 260
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
  2. NM_006412.3NP_006403.2  1-acyl-sn-glycerol-3-phosphate acyltransferase beta isoform a precursor

    See proteins identical to NP_006403.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AF000237, AL590226, BC000026, BF347518
    Consensus CDS
    CCDS7003.1
    UniProtKB/Swiss-Prot
    O15120
    Related
    ENSP00000360761, OTTHUMP00000022595, ENST00000371696, OTTHUMT00000055090
    Conserved Domains (1) summary
    cd07989
    Location:67249
    Blast Score: 428
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000009.12 

    Range
    136673143..136687459
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000141.1 

    Range
    109027535..109041933
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 

    Range
    139716530..139730723
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...