AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AGPAT1provided by HGNC
Official Full Name: 1-acylglycerol-3-phosphate O-acyltransferase 1provided by HGNC
Primary source: HGNC:HGNC:324
See related: Ensembl:ENSG00000204310 MIM:603099; AllianceGenome:HGNC:324
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: G15; LPAATA; LPLAT1; 1-AGPAT1; LPAAT-alpha
Summary: This gene encodes an enzyme that converts lysophosphatidic acid (LPA) into phosphatidic acid (PA). LPA and PA are two phospholipids involved in signal transduction and in lipid biosynthesis in cells. This enzyme localizes to the endoplasmic reticulum. This gene is located in the class III region of the human major histocompatibility complex. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 25.5), brain (RPKM 21.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.32

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (32168212..32178108, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (32021403..32031299, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (32135989..32145885, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AGPAT1 as a Novel Colonic Biomarker for Discriminating Between Ulcerative Colitis With and Without Primary Sclerosing Cholangitis.
Title: AGPAT1 as a Novel Colonic Biomarker for Discriminating Between Ulcerative Colitis With and Without Primary Sclerosing Cholangitis.
Observational study of gene-disease association. (HuGE Navigator)
Title: High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Association of MHC SNP genotype with susceptibility to type 1 diabetes: a modified survival approach.
Results suggest that motifs II and III of 1-acyl-sn-glycero-3-phosphate acyltransferase 1 are involved in lysophosphatidic acid binding, and motifs I and IV are involved in acyl-CoA binding.
Title: Topology of acyltransferase motifs and substrate specificity and accessibility in 1-acyl-sn-glycero-3-phosphate acyltransferase 1.
The differences in expression of AGPAT1 in human monocytes and macrophages, and its effect on platelet-activating factor in these cells is reported.
Title: Lysophospholipid transacetylase in the regulation of PAF levels in human monocytes and macrophages.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D6S1412 (e-PCR)
- UniSTS:37704

RH91426 (e-PCR)
- UniSTS:83571

D6S1154E (e-PCR)
- UniSTS:29826

MARC_31849-31850:1068218042:1 (e-PCR)
- UniSTS:269226

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 1-acylglycerol-3-phosphate O-acyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 1-acylglycerol-3-phosphate O-acyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables 1-acylglycerol-3-phosphate O-acyltransferase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables 1-acylglycerol-3-phosphate O-acyltransferase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in CDP-diacylglycerol biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in phosphatidic acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidic acid biosynthetic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in phosphatidic acid biosynthetic process	TAS Traceable Author Statement more info
involved_in phospholipid metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of cytokine production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cytokine-mediated signaling pathway	IC Inferred by Curator more info	PubMed

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: 1-acyl-sn-glycerol-3-phosphate acyltransferase alpha

Names: 1-AGP acyltransferase 1; 1-AGPAT 1; 1-acylglycerol-3-phosphate O-acyltransferase 1 (acetoacetly Coenzyme A thiolase); 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha); epididymis secretory sperm binding protein; lysophosphatidic acid acyltransferase alpha; lysophospholipid acyltransferase; lysophospholipid acyltransferase l

NP_001358366.1

EC 2.3.1.51

NP_001358367.1

EC 2.3.1.51

NP_001358368.1

EC 2.3.1.51

NP_006402.1

EC 2.3.1.51

NP_116130.2

EC 2.3.1.51

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001371437.1 → NP_001358366.1 1-acyl-sn-glycerol-3-phosphate acyltransferase alpha isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (2)

Source sequence(s)

AL662884

UniProtKB/TrEMBL

Q71VH6

Related

ENST00000490711.5

Conserved Domains (1) summary

cd07989
Location:73 → 259

LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
NM_001371438.1 → NP_001358367.1 1-acyl-sn-glycerol-3-phosphate acyltransferase alpha isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, and uses a downstream start codon compared to variant 3. The encoded isoform (1) is shorter than isoform 2.

Source sequence(s)

AL662884

Consensus CDS

CCDS4744.1

UniProtKB/Swiss-Prot

A2BFI5, Q5BL03, Q99943

UniProtKB/TrEMBL

A0A024RCV5, Q71VH6

Related

ENSP00000364245.2, ENST00000375104.6

Conserved Domains (1) summary

cd07989
Location:69 → 255

LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
NM_001371439.1 → NP_001358368.1 1-acyl-sn-glycerol-3-phosphate acyltransferase alpha isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR, and uses a downstream start codon compared to variant 3. The encoded isoform (1) is shorter than isoform 2.

Source sequence(s)

AL662884

Consensus CDS

CCDS4744.1

UniProtKB/Swiss-Prot

A2BFI5, Q5BL03, Q99943

UniProtKB/TrEMBL

A0A024RCV5, Q71VH6

Related

ENSP00000378874.1, ENST00000395496.5

Conserved Domains (1) summary

cd07989
Location:69 → 255

LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
NM_006411.4 → NP_006402.1 1-acyl-sn-glycerol-3-phosphate acyltransferase alpha isoform 1 precursor

See identical proteins and their annotated locations for NP_006402.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) differs in the 5' UTR, and uses a downstream start codon compared to variant 3. The encoded isoform (1) is shorter than isoform 2.

Source sequence(s)

AI193422, BC004310, DA529681

Consensus CDS

CCDS4744.1

UniProtKB/Swiss-Prot

A2BFI5, Q5BL03, Q99943

UniProtKB/TrEMBL

A0A024RCV5, Q71VH6

Related

ENSP00000364248.3, ENST00000375107.8

Conserved Domains (1) summary

cd07989
Location:69 → 255

LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
NM_032741.5 → NP_116130.2 1-acyl-sn-glycerol-3-phosphate acyltransferase alpha isoform 1 precursor

See identical proteins and their annotated locations for NP_116130.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, and uses a downstream start codon compared to variant 3. The encoded isoform (1) is shorter than isoform 2.

Source sequence(s)

AI193422, BC002402, BM763275, DB118884

Consensus CDS

CCDS4744.1

UniProtKB/Swiss-Prot

A2BFI5, Q5BL03, Q99943

UniProtKB/TrEMBL

A0A024RCV5, Q71VH6

Related

ENSP00000337463.6, ENST00000336984.6

Conserved Domains (1) summary

cd07989
Location:69 → 255

LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like