LPGAT1

Summary

LPGAT1 (lysophosphatidylglycerol acyltransferase 1, HGNC:28985) is a protein-coding gene on chromosome 1q32.3, encoding Acyl-CoA:lysophosphatidylglycerol acyltransferase 1 (Q92604). Lysophospholipid acyltransferase involved in fatty acyl chain remodeling of glycerophospholipids in the endoplasmic reticulum membrane.

This gene encodes a member of the lysophospholipid acyltransferase family. The encoded protein catalyzes the reacylation of lysophosphatidylglycerol to phosphatidylglycerol, a membrane phospholipid that is an important precursor for the synthesis of cardiolipin. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 9926 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 33 total
• MANE Select transcript: NM_014873

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28985
Approved symbol	LPGAT1
Name	lysophosphatidylglycerol acyltransferase 1
Location	1q32.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0205, FAM34A1, NET8, LPLAT7
Ensembl gene	ENSG00000123684
Ensembl biotype	protein_coding
OMIM	610473
Entrez	9926

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 20 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000366996, ENST00000366997, ENST00000488600, ENST00000498690, ENST00000890038, ENST00000890039, ENST00000890040, ENST00000890041, ENST00000890042, ENST00000890043, ENST00000890044, ENST00000890045, ENST00000890046, ENST00000890047, ENST00000890048, ENST00000890049, ENST00000890051, ENST00000913534, ENST00000913535, ENST00000967901, ENST00000967902, ENST00000967903

RefSeq mRNA: 6 — MANE Select: NM_014873 NM_001320808, NM_001375841, NM_001375842, NM_001375844, NM_001375845, NM_014873

CCDS: CCDS31018

Canonical transcript exons

ENST00000366997 — 8 exons

Exon	Start	End
ENSE00001010400	211750961	211751067
ENSE00001010402	211778918	211779044
ENSE00001010403	211787632	211787727
ENSE00001010404	211783229	211783502
ENSE00001010405	211793072	211793190
ENSE00001429517	211830573	211830763
ENSE00001443202	211743457	211750050
ENSE00001443203	211829059	211829323

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 96.79.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.1450 / max 401.6199, expressed in 1808 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter ID	TPM avg	Samples expressed
17368	10.3821	1774
17363	4.9926	1304
17367	2.5519	1178
17366	0.8179	487
17369	0.5346	282
17364	0.5002	261
17365	0.3740	173
201942	0.3524	168
17361	0.2188	82
17362	0.1287	41

Top tissues by expression

256 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	96.79	gold quality
substantia nigra pars reticulata	UBERON:0001966	96.35	gold quality
substantia nigra pars compacta	UBERON:0001965	95.94	gold quality
epithelial cell of pancreas	CL:0000083	95.82	gold quality
adrenal tissue	UBERON:0018303	95.43	gold quality
Brodmann (1909) area 23	UBERON:0013554	95.04	gold quality
corpus callosum	UBERON:0002336	94.99	gold quality
lateral globus pallidus	UBERON:0002476	94.78	gold quality
lateral nuclear group of thalamus	UBERON:0002736	93.82	gold quality
Brodmann (1909) area 46	UBERON:0006483	93.76	gold quality
monocyte	CL:0000576	93.44	gold quality
jejunal mucosa	UBERON:0000399	93.32	gold quality
leukocyte	CL:0000738	93.22	gold quality
pigmented layer of retina	UBERON:0001782	92.90	gold quality
sperm	CL:0000019	92.71	gold quality
dorsal plus ventral thalamus	UBERON:0001897	92.54	gold quality
ileal mucosa	UBERON:0000331	92.46	gold quality
occipital lobe	UBERON:0002021	92.12	gold quality
inferior vagus X ganglion	UBERON:0005363	91.98	gold quality
superior vestibular nucleus	UBERON:0007227	91.93	gold quality
primary visual cortex	UBERON:0002436	91.85	gold quality
cerebellar vermis	UBERON:0004720	91.84	gold quality
islet of Langerhans	UBERON:0000006	91.81	gold quality
pons	UBERON:0000988	91.73	gold quality
medulla oblongata	UBERON:0001896	91.73	gold quality
subthalamic nucleus	UBERON:0001906	91.46	gold quality
endothelial cell	CL:0000115	91.45	gold quality
cortical plate	UBERON:0005343	91.35	gold quality
parietal lobe	UBERON:0001872	91.21	gold quality
ventral tegmental area	UBERON:0002691	90.86	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.55

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

312 targeting LPGAT1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-548C-3P	99.99	74.01	7587

Literature-anchored findings (GeneRIF, showing 3)

• human LPGAT1 is an endoplasmic reticulum-associated lysophosphatidylglycerol acyltransferase (PMID:15485873)
• LPGAT1 is a novel gene that influences BMI in Native Americans. (PMID:23505186)
• Upregulation of LPGAT1 Enhances Lung Adenocarcinoma Proliferation. (PMID:37258473)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	lpgat1	ENSDARG00000013542
mus_musculus	Lpgat1	ENSMUSG00000026623
rattus_norvegicus	Lpgat1l1	ENSRNOG00000003883
rattus_norvegicus	Lpgat1	ENSRNOG00000004402
caenorhabditis_elegans		WBGENE00008581
caenorhabditis_elegans		WBGENE00015295
caenorhabditis_elegans		WBGENE00019465

Paralogs (4): AGPAT4 (ENSG00000026652), AGPAT5 (ENSG00000155189), AGPAT3 (ENSG00000160216), LCLAT1 (ENSG00000172954)

Protein

Protein identifiers

Acyl-CoA:lysophosphatidylglycerol acyltransferase 1 — Q92604 (reviewed: Q92604)

Alternative names: 2-acylglycerophosphocholine O-acyltransferase, Acyl-CoA:monoacylglycerol acyltransferase LPGAT1, Lysophospholipid acyltransferase 7, Stearoyl-CoA:1-lyso-2-acyl-PE acyltransferase

All UniProt accessions (1): Q92604

UniProt curated annotations — full annotation on UniProt →

Function. Lysophospholipid acyltransferase involved in fatty acyl chain remodeling of glycerophospholipids in the endoplasmic reticulum membrane. Selectively catalyzes the transfer and esterification of saturated long-chain fatty acids from acyl-CoA to the sn-1 position of 1-lyso-2-acyl phosphatidylethanolamines (1-lyso-PE, LPE), with a preference for stearoyl CoA over palmitoyl CoA as acyl donor. Acts in concert with an unknown phospholipase A1 to convert palmitate phosphatidylethanolamine (PE) species into stearate ones. Provides substrates to the PE methylation pathway, controlling stearate/palmitate composition of PE and phosphatidylcholine (PC) species with an overall impact on de novo hepatic lipid synthesis, body fat content and life span. Can acylate lysophosphatidylglycerols (LPG) using various saturated fatty acyl-CoAs as acyl donors. Can also acylate monoacylglycerols with a preference for 2-monoacylglycerols over 1-monoacylglycerols. Has no activity toward lysophosphatidic acids (LPA).

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Highly expressed in liver and placenta. Also expressed in peripheral blood, lung, kidney and brain. Detected at lower levels in colon. High expression is detected in brain and testis.

Domain organisation. The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate.

Similarity. Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family.

RefSeq proteins (6): NP_001307737, NP_001362770, NP_001362771, NP_001362773, NP_001362774, NP_055688* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002123	Plipid/glycerol_acylTrfase	Domain
IPR032098	Acyltransf_C	Domain

Pfam: PF01553, PF16076

Catalyzed reactions (Rhea), 12 shown:

• a 2-acyl-sn-glycero-3-phosphocholine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphocholine + CoA (RHEA:10332)
• a 2-acylglycerol + an acyl-CoA = a 1,2-diacylglycerol + CoA (RHEA:16741)
• 1-hexadecanoyl-sn-glycero-3-phospho-(1’-sn-glycerol) + hexadecanoyl-CoA = 1,2-dihexadecanoyl-sn-glycero-3-phospho-(1’-sn-glycerol) + CoA (RHEA:35851)
• 1-tetradecanoyl-sn-glycero-3-phospho-(1’-sn-glycerol) + hexadecanoyl-CoA = 1-tetradecanoyl-2-hexadecanoyl-sn-glycero-3-phospho-(1’-sn-glycerol) + CoA (RHEA:35855)
• 1-octadecanoyl-sn-glycero-3-phospho-(1’-sn-glycerol) + hexadecanoyl-CoA = 1-octadecanoyl-2-hexadecanoyl-sn-glycero-3-phospho-(1’-sn-glycerol) + CoA (RHEA:35859)
• 1-(9Z-octadecenoyl)-sn-glycero-3-phospho-(1’-sn-glycerol) + hexadecanoyl-CoA = 1-(9Z-octadecenoyl)-2-hexadecanoyl-sn-glycero-3-phospho-(1’-sn-glycerol) + CoA (RHEA:35863)
• 1-hexadecanoyl-sn-glycero-3-phospho-(1’-sn-glycerol) + octadecanoyl-CoA = 1-hexadecanoyl-2-octadecanoyl-sn-glycero-3-phospho-(1’-sn-glycerol) + CoA (RHEA:35887)
• 1-hexadecanoyl-sn-glycero-3-phospho-(1’-sn-glycerol) + (9Z)-octadecenoyl-CoA = 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-(1’-sn-glycerol) + CoA (RHEA:35891)
• 1-(9Z-octadecenoyl)-sn-glycero-3-phospho-L-serine + octadecanoyl-CoA = 1-(9Z-octadecenoyl)-2-octadecanoyl-sn-glycero-3-phospho-L-serine + CoA (RHEA:37403)
• 1-(9Z-octadecenoyl)-sn-glycero-3-phospho-(1’-sn-glycerol) + (9Z)-octadecenoyl-CoA = 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phospho-(1’-sn-glycerol) + CoA (RHEA:37651)
• 1-(9Z-octadecenoyl)-sn-glycero-3-phospho-(1’-sn-glycerol) + dodecanoyl-CoA = 1-(9Z-octadecenoyl)-2-dodecanoyl-sn-glycero-3-phospho-(1’-sn-glycerol) + CoA (RHEA:40099)
• 1-hexadecanoyl-sn-glycero-3-phospho-(1’-sn-glycerol) + dodecanoyl-CoA = 1-hexadecanoyl-2-dodecanoyl-sn-glycero-3-phospho-(1’-sn-glycerol) + CoA (RHEA:40107)

UniProt features (4 total): transmembrane region 2, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92604-F1	93.24	0.86

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-1482925	Acyl chain remodelling of PG
R-HSA-1430728	Metabolism
R-HSA-1483206	Glycerophospholipid biosynthesis
R-HSA-1483257	Phospholipid metabolism
R-HSA-556833	Metabolism of lipids

MSigDB gene sets: 388 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, GGGACCA_MIR133A_MIR133B, MODULE_52, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLCHOLINE_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, MORF_MSH3, TGCACTT_MIR519C_MIR519B_MIR519A, ATACCTC_MIR202, MORF_BRCA1, MORF_ATRX, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP

GO Biological Process (7): phospholipid biosynthetic process (GO:0008654), triglyceride biosynthetic process (GO:0019432), phosphatidylglycerol acyl-chain remodeling (GO:0036148), phosphatidylinositol acyl-chain remodeling (GO:0036149), phosphatidylethanolamine acyl-chain remodeling (GO:0036152), positive regulation of fatty acid biosynthetic process (GO:0045723), lipid metabolic process (GO:0006629)

GO Molecular Function (8): 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841), 2-acylglycerol O-acyltransferase activity (GO:0003846), acyltransferase activity (GO:0016746), 2-acylglycerol-3-phosphate O-acyltransferase activity (GO:0047144), 2-acylglycerophosphocholine O-acyltransferase activity (GO:0047190), lysophospholipid acyltransferase activity (GO:0071617), lysophosphatidylethanolamine acyltransferase activity (GO:0071618), transferase activity (GO:0016740)

GO Cellular Component (5): cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), endomembrane system (GO:0012505), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Glycerophospholipid biosynthesis	1
Phospholipid metabolism	1
Metabolism of lipids	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
acylglycerol O-acyltransferase activity	2
lysophosphatidic acid acyltransferase activity	2
acyltransferase activity, transferring groups other than amino-acyl groups	2
phospholipid metabolic process	1
lipid biosynthetic process	1
organophosphate biosynthetic process	1
triglyceride metabolic process	1
acylglycerol biosynthetic process	1
phosphatidylglycerol metabolic process	1
phosphatidylinositol metabolic process	1
phosphatidylcholine metabolic process	1
fatty acid biosynthetic process	1
regulation of fatty acid biosynthetic process	1
positive regulation of fatty acid metabolic process	1
positive regulation of lipid biosynthetic process	1
primary metabolic process	1
transferase activity	1
lysophospholipid acyltransferase activity	1
catalytic activity	1
intracellular anatomical structure	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

1570 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LPGAT1	GPAM	Q9HCL2	884
LPGAT1	A0A1W2PPA2	A0A1W2PPA2	857
LPGAT1	PPP2R5A	Q15172	851
LPGAT1	KCNH1	O95259	833
LPGAT1	LAMB3	Q13751	697
LPGAT1	MTTP	P55157	607
LPGAT1	CHPT1	Q8WUD6	519
LPGAT1	MBOAT1	Q6ZNC8	469
LPGAT1	OR4F6	Q8NGB9	450
LPGAT1	AGPAT3	Q9NRZ7	447
LPGAT1	AGPAT1	Q99943	435
LPGAT1	LPCAT1	Q8NF37	433
LPGAT1	PAFAH1B2	P68402	414
LPGAT1	AFAP1L2	Q8N4X5	396
LPGAT1	CRLS1	Q9UJA2	395

IntAct

57 interactions, top by confidence:

A	B	Type	Score
LPGAT1	POTEF	psi-mi:“MI:0914”(association)	0.530
LYPD6	PLXNB2	psi-mi:“MI:0914”(association)	0.530
IZUMO1	ADCY3	psi-mi:“MI:0914”(association)	0.530
TMEM184A	SLC33A1	psi-mi:“MI:0914”(association)	0.530
SLC2A5	LPGAT1	psi-mi:“MI:0914”(association)	0.530
LPGAT1		psi-mi:“MI:0915”(physical association)	0.370
Rpl35	RPS6	psi-mi:“MI:0914”(association)	0.350
Bmpr1a	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Hax1	DERL1	psi-mi:“MI:0914”(association)	0.350
RNF41	CLEC16A	psi-mi:“MI:0914”(association)	0.350
ATL3	SNX14	psi-mi:“MI:0914”(association)	0.350
VAPA		psi-mi:“MI:0914”(association)	0.350
MBOAT1	DERL1	psi-mi:“MI:0914”(association)	0.350
CHST15	SLC43A3	psi-mi:“MI:0914”(association)	0.350
TUBA1C	TCP11L2	psi-mi:“MI:0914”(association)	0.350
	ESYT2	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
		psi-mi:“MI:0914”(association)	0.350
	TSPO	psi-mi:“MI:0914”(association)	0.350
IZUMO1	CNOT1	psi-mi:“MI:0914”(association)	0.350
PA	ESYT2	psi-mi:“MI:0914”(association)	0.350
M	TM9SF1	psi-mi:“MI:0914”(association)	0.350
CANX	HLA-A	psi-mi:“MI:0914”(association)	0.350
PSMB10	DDX46	psi-mi:“MI:0914”(association)	0.350
TSPAN15	TMEM223	psi-mi:“MI:0914”(association)	0.350
OPRL1	METTL15	psi-mi:“MI:0914”(association)	0.350
CHODL	RAD51C	psi-mi:“MI:0914”(association)	0.350
FFAR1	SLC12A8	psi-mi:“MI:0914”(association)	0.350

BioGRID (100): HSPA8 (Affinity Capture-MS), HSPA1L (Affinity Capture-MS), POTEF (Affinity Capture-MS), LPGAT1 (Affinity Capture-MS), LPGAT1 (Affinity Capture-MS), LPGAT1 (Affinity Capture-MS), LPGAT1 (Affinity Capture-MS), LPGAT1 (Affinity Capture-MS), LPGAT1 (Affinity Capture-MS), LPGAT1 (Affinity Capture-MS), LPGAT1 (Affinity Capture-MS), LPGAT1 (Affinity Capture-MS), LPGAT1 (Affinity Capture-MS), POTEF (Affinity Capture-MS), LPGAT1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0E0S977, A3FPG8, A3KGT9, A5WVX9, B8AFI3, B8BHF1, E7F6D7, E9PTT0, F4HVY0, G2X5A0, P0CS66, P0CS67, P39010, P53324, Q06510, Q0U2R3, Q11087, Q12013, Q2HJ95, Q4I8B6, Q4V8J4, Q4X251, Q53EU6, Q5B0V6, Q5R6J7, Q5REH2, Q5ZLL8, Q68F37, Q6C520, Q6DG38, Q6FJ70, Q6K9F6, Q755Y0, Q7XDI3, Q7XPZ4, Q7Z8U2, Q80TN5, Q86UL3, Q875M2, Q875S9

Diamond homologs: O94361, P38226, Q12185, Q5F3X0, Q6NYV8, Q8L4Y2, Q92604, Q9LHN4, Q11087, Q20800, Q91YX5, Q3UN02, Q6UWP7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

33 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	25
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2157 predictions. Top by Δscore:

Variant	Effect	Δscore
1:211749944:ATAG:A	donor_gain	1.0000
1:211750956:TGTAC:T	donor_loss	1.0000
1:211750957:GTAC:G	donor_loss	1.0000
1:211750958:TA:T	donor_loss	1.0000
1:211750959:A:AG	donor_loss	1.0000
1:211750960:C:CT	donor_loss	1.0000
1:211751077:G:GC	acceptor_gain	1.0000
1:211751078:T:C	acceptor_gain	1.0000
1:211751078:T:TC	acceptor_gain	1.0000
1:211778912:TCTTA:T	donor_loss	1.0000
1:211778913:CTTA:C	donor_loss	1.0000
1:211778914:TTACC:T	donor_loss	1.0000
1:211778915:TA:T	donor_loss	1.0000
1:211778916:A:AC	donor_gain	1.0000
1:211778916:A:T	donor_loss	1.0000
1:211778917:C:CA	donor_loss	1.0000
1:211778917:C:CC	donor_gain	1.0000
1:211779040:GCTGT:G	acceptor_loss	1.0000
1:211779041:CTGT:C	acceptor_gain	1.0000
1:211779042:TGT:T	acceptor_gain	1.0000
1:211779043:GT:G	acceptor_gain	1.0000
1:211779043:GTCT:G	acceptor_loss	1.0000
1:211779044:TC:T	acceptor_loss	1.0000
1:211779045:C:CC	acceptor_gain	1.0000
1:211779045:C:T	acceptor_loss	1.0000
1:211779046:T:C	acceptor_loss	1.0000
1:211779052:C:CT	acceptor_gain	1.0000
1:211779053:A:T	acceptor_gain	1.0000
1:211787626:ACTT:A	donor_loss	1.0000
1:211787627:CTT:C	donor_loss	1.0000

AlphaMissense

2444 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:211787709:A:G	W126R	1.000
1:211787709:A:T	W126R	1.000
1:211793128:G:C	H101D	1.000
1:211783395:G:C	F187L	0.999
1:211783395:G:T	F187L	0.999
1:211783396:A:G	F187S	0.999
1:211783397:A:G	F187L	0.999
1:211783410:A:C	F182L	0.999
1:211783410:A:T	F182L	0.999
1:211783412:A:G	F182L	0.999
1:211783424:A:G	W178R	0.999
1:211783424:A:T	W178R	0.999
1:211787641:A:C	F148L	0.999
1:211787641:A:T	F148L	0.999
1:211787643:A:G	F148L	0.999
1:211787672:C:T	G138E	0.999
1:211793112:T:A	D106V	0.999
1:211793112:T:C	D106G	0.999
1:211793112:T:G	D106A	0.999
1:211793113:C:A	D106Y	0.999
1:211793113:C:G	D106H	0.999
1:211793129:A:C	N100K	0.999
1:211793129:A:T	N100K	0.999
1:211751001:A:C	F307L	0.998
1:211751001:A:T	F307L	0.998
1:211751003:A:G	F307L	0.998
1:211783371:A:C	S195R	0.998
1:211783371:A:T	S195R	0.998
1:211783373:T:G	S195R	0.998
1:211783396:A:C	F187C	0.998

dbSNP variants (sampled 300 via entrez): RS1000018648 (1:211753312 G>A), RS1000033851 (1:211776005 C>A,T), RS1000054673 (1:211804156 T>C), RS1000100030 (1:211813675 C>T), RS1000128492 (1:211759668 T>C), RS1000145537 (1:211779250 G>A), RS1000233298 (1:211795621 C>G), RS1000302487 (1:211782724 G>A), RS1000328424 (1:211810535 G>A), RS1000332912 (1:211743212 G>A), RS1000349174 (1:211817195 C>A,G,T), RS1000361720 (1:211788500 T>C), RS1000402366 (1:211797860 T>C), RS1000424193 (1:211817031 A>G), RS1000456679 (1:211819898 C>T)

Disease associations

OMIM: gene MIM:610473 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST001840_5	Stearic acid (18:0) levels	3.000000e-09
GCST005689_1	Major depressive disorder (unexposed to adversity)	3.000000e-08
GCST90002396_164	Mean reticulocyte volume	3.000000e-12

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010701	mean reticulocyte volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

47 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation, affects cotreatment, increases expression, decreases expression	8
methylmercuric chloride	decreases expression, affects cotreatment	4
Tetrachlorodibenzodioxin	increases expression, decreases expression	3
Cyclosporine	decreases expression	3
bisphenol A	affects cotreatment, decreases methylation, increases expression	2
trichostatin A	increases expression	2
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
entinostat	increases expression, affects cotreatment	2
Resveratrol	affects cotreatment, decreases expression, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
manganese chloride	increases expression, affects cotreatment, increases abundance	1
periodate-oxidized adenosine	affects expression	1
seocalcitol	increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	1
dorsomorphin	affects cotreatment, increases expression, decreases expression	1
jinfukang	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Vorinostat	affects cotreatment, increases expression, decreases expression	1
Acetaminophen	decreases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Calcitriol	increases expression	1
Cisplatin	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Estradiol	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1W2	Abcam HeLa LPGAT1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.