AGPAT3 (1-acylglycerol-3-phosphate O-acyltransferase 3)

2014-11-01  

Identity

HGNC
AGPAT3
LOCATION
21q22.3
LOCUSID
56894
ALIAS
1-AGPAT 3,LPAAT-GAMMA1,LPAAT3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 56894
MIM: 614794
HGNC: 326
Ensembl: ENSG00000160216

Variants:

dbSNP: 56894
ClinVar: 56894
TCGA: ENSG00000160216
COSMIC: AGPAT3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160216ENST00000291572Q9NRZ7
ENSG00000160216ENST00000327505Q9NRZ7
ENSG00000160216ENST00000398058Q9NRZ7
ENSG00000160216ENST00000398061Q9NRZ7
ENSG00000160216ENST00000398063Q9NRZ7
ENSG00000160216ENST00000422850C9JL26
ENSG00000160216ENST00000445582C9J184
ENSG00000160216ENST00000448287C9JQX8
ENSG00000160216ENST00000448845C9JK35
ENSG00000160216ENST00000457068C9JL26
ENSG00000160216ENST00000546158Q9NRZ7

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycerolipid metabolismKEGGko00561
Glycerophospholipid metabolismKEGGko00564
Glycerolipid metabolismKEGGhsa00561
Glycerophospholipid metabolismKEGGhsa00564
Metabolic pathwaysKEGGhsa01100
Triacylglycerol biosynthesisKEGGhsa_M00089
Triacylglycerol biosynthesisKEGGM00089
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Triglyceride BiosynthesisREACTOMER-HSA-75109
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Synthesis of PAREACTOMER-HSA-1483166
Phospholipase D signaling pathwayKEGGko04072
Phospholipase D signaling pathwayKEGGhsa04072
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Golgi-to-ER retrograde transportREACTOMER-HSA-8856688
COPI-independent Golgi-to-ER retrograde trafficREACTOMER-HSA-6811436

References

Pubmed IDYearTitleCitations
378217582023A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome.3
378217582023A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome.3
211731902011Enzymatic activities of the human AGPAT isoform 3 and isoform 5: localization of AGPAT5 to mitochondria.37
211731902011Enzymatic activities of the human AGPAT isoform 3 and isoform 5: localization of AGPAT5 to mitochondria.37
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
205379802010Membrane topology of human AGPAT3 (LPAAT3).13
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
205379802010Membrane topology of human AGPAT3 (LPAAT3).13
196358402009Lysophosphatidic acid acyltransferase 3 regulates Golgi complex structure and function.39
196358402009Lysophosphatidic acid acyltransferase 3 regulates Golgi complex structure and function.39
166207712006Functional characterization of human 1-acylglycerol-3-phosphate acyltransferase isoform 8: cloning, tissue distribution, gene structure, and enzymatic activity.27
166207712006Functional characterization of human 1-acylglycerol-3-phosphate acyltransferase isoform 8: cloning, tissue distribution, gene structure, and enzymatic activity.27

Citation

Dessen P

AGPAT3 (1-acylglycerol-3-phosphate O-acyltransferase 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60204/agpat3-(1-acylglycerol-3-phosphate-o-acyltransferase-3)