Gene Gene information from NCBI Gene database.
Entrez ID 56894
Gene name 1-acylglycerol-3-phosphate O-acyltransferase 3
Gene symbol AGPAT3
Synonyms (NCBI Gene)
1-AGPAT 3LPAAT-GAMMA1LPAAT3LPLAT3
Chromosome 21
Chromosome location 21q22.3
Summary The protein encoded by this gene is an acyltransferase that converts lysophosphatidic acid into phosphatidic acid, which is the second step in the de novo phospholipid biosynthetic pathway. The encoded protein may be an integral membrane protein. Two tran
miRNA miRNA information provided by mirtarbase database.
998
miRTarBase ID miRNA Experiments Reference
MIRT016086 hsa-miR-744-5p Sequencing 20371350
MIRT017029 hsa-miR-335-5p Microarray 18185580
MIRT029038 hsa-miR-26b-5p Sequencing 20371350
MIRT030467 hsa-miR-24-3p Microarray 19748357
MIRT030467 hsa-miR-24-3p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0003841 Function 1-acylglycerol-3-phosphate O-acyltransferase activity IBA
GO:0003841 Function 1-acylglycerol-3-phosphate O-acyltransferase activity IDA 21173190
GO:0003841 Function 1-acylglycerol-3-phosphate O-acyltransferase activity IEA
GO:0003841 Function 1-acylglycerol-3-phosphate O-acyltransferase activity NAS 15367102
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614794 326 ENSG00000160216
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NRZ7
Protein name 1-acyl-sn-glycerol-3-phosphate acyltransferase gamma (EC 2.3.1.51) (1-acylglycerol-3-phosphate O-acyltransferase 3) (1-AGP acyltransferase 3) (1-AGPAT 3) (Lysophosphatidic acid acyltransferase gamma) (LPAAT-gamma)
Protein function Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone (PubMed:21173190). Acts on LPA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01553 Acyltransferase 74 233 Acyltransferase Family
PF16076 Acyltransf_C 242 314 Acyltransferase C-terminus Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest levels in testis, pancreas and kidney, followed by spleen, lung, adipose tissue and liver. {ECO:0000269|PubMed:21173190}.
Sequence
Sequence length 376
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycerolipid metabolism
Glycerophospholipid metabolism
Metabolic pathways
Phospholipase D signaling pathway
  Synthesis of PA
COPI-independent Golgi-to-ER retrograde traffic
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual disability Pathogenic rs780787175 RCV003445222
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DEGENERATIVE DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISEASES CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 29965997 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease BEFREE 28575117
★☆☆☆☆
Found in Text Mining only
Degenerative Diseases, Central Nervous System Degenerative Diseases, Central Nervous System CTD_human_DG 15964507
★☆☆☆☆
Found in Text Mining only
Degenerative Diseases, Spinal Cord Degenerative Diseases, Central Nervous System CTD_human_DG 15964507
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down syndrome Pubtator 38095646 Associate
★☆☆☆☆
Found in Text Mining only
Heart Diseases Heart disease Pubtator 35748249 Associate
★☆☆☆☆
Found in Text Mining only
Infertility Male Male infertility Pubtator 31103287 Associate
★☆☆☆☆
Found in Text Mining only
Neurodegenerative Disorders Neurodegenerative Disorders CTD_human_DG 15964507
★★☆☆☆
Found in Text Mining + Unknown/Other Associations