Gene Gene information from NCBI Gene database.
Entrez ID 10554
Gene name 1-acylglycerol-3-phosphate O-acyltransferase 1
Gene symbol AGPAT1
Synonyms (NCBI Gene)
1-AGPAT1G15LPAAT-alphaLPAATALPLAT1
Chromosome 6
Chromosome location 6p21.32
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. Thi
miRNA miRNA information provided by mirtarbase database.
239
miRTarBase ID miRNA Experiments Reference
MIRT016494 hsa-miR-193b-3p Microarray 20304954
MIRT025835 hsa-miR-7-5p Microarray 19073608
MIRT618407 hsa-miR-7110-3p HITS-CLIP 23824327
MIRT618406 hsa-miR-6817-3p HITS-CLIP 23824327
MIRT618405 hsa-miR-130b-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0001819 Process Positive regulation of cytokine production IMP 9212163
GO:0001961 Process Positive regulation of cytokine-mediated signaling pathway IC 9212163
GO:0003841 Function 1-acylglycerol-3-phosphate O-acyltransferase activity IBA
GO:0003841 Function 1-acylglycerol-3-phosphate O-acyltransferase activity IDA 9461603, 21873652
GO:0003841 Function 1-acylglycerol-3-phosphate O-acyltransferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603099 324 ENSG00000204310
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99943
Protein name 1-acyl-sn-glycerol-3-phosphate acyltransferase alpha (EC 2.3.1.51) (1-acylglycerol-3-phosphate O-acyltransferase 1) (1-AGP acyltransferase 1) (1-AGPAT 1) (Lysophosphatidic acid acyltransferase alpha) (LPAAT-alpha) (Protein G15)
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. {ECO:0000269|PubMed:21873652,
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01553 Acyltransferase 83 211 Acyltransferase Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed in adipose tissue and at high levels in testis and pancreas. Expressed at lower levels in tissues such as heart, brain, placenta, kidney, lung, spleen, thymus, prostate, ovary, intestine, colon, leukocyte an
Sequence
MDLWPGAWMLLLLLFLLLLFLLPTLWFCSPSAKYFFKMAFYNGWILFLAVLAIPVCAVRG
RNVENMKILRLMLLHIKYLYGIRVEVRGAHHFPPSQPYVVVSNHQSSLDLLGMMEVLPGR
CVPIAKRELLWAGSAGLACWLAGVIFIDRKRTGDAISVMSEVAQTLLTQDVRVWVFPEGT
RNHNGSMLPFKRGAFHLAVQAQVPIVPIVMS
SYQDFYCKKERRFTSGQCQVRVLPPVPTE
GLTPDDVPALADRVRHSMLTVFREISTDGRGGGDYLKKPGGGG
Sequence length 283
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
Fat digestion and absorption
  Synthesis of PA
ChREBP activates metabolic gene expression
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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)
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
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GALLSTONES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS 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
Alzheimer Disease Alzheimer disease Pubtator 21098978 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 35441810 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 25749516, 27992526 Associate
★☆☆☆☆
Found in Text Mining only
Congenital neurologic anomalies Drachtman Weinblatt Sitarz syndrome BEFREE 28973305
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent Diabetes Mellitus GWASDB_DG 17632545
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 22359512
★☆☆☆☆
Found in Text Mining only
Exfoliation Syndrome Exfoliation Syndrome CTD_human_DG 28553957
★☆☆☆☆
Found in Text Mining only
Familial generalized lipodystrophy Lipodystrophy BEFREE 12765973, 28973305
★☆☆☆☆
Found in Text Mining only
Fatty Liver Fatty Liver BEFREE 21873652
★☆☆☆☆
Found in Text Mining only
Lipodystrophy Lipodystrophy BEFREE 12765973
★☆☆☆☆
Found in Text Mining only