GPAT4

Summary

GPAT4 (glycerol-3-phosphate acyltransferase 4, HGNC:20880) is a protein-coding gene on chromosome 8p11.21, encoding Glycerol-3-phosphate acyltransferase 4 (Q86UL3). Converts glycerol-3-phosphate to 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) by incorporating an acyl moiety at the sn-1 position of the glycerol backbone.

Lysophosphatidic acid acyltransferases (EC 2.3.1.51) catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA). LPA and PA are involved in signal transduction and lipid biosynthesis.

Source: NCBI Gene 137964 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 47 total
• Druggable target: yes
• MANE Select transcript: NM_178819

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20880
Approved symbol	GPAT4
Name	glycerol-3-phosphate acyltransferase 4
Location	8p11.21
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp586M1819, LPAAT-zeta, TSARG7
Ensembl gene	ENSG00000158669
Ensembl biotype	protein_coding
OMIM	608143
Entrez	137964

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 22 protein_coding, 4 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000396987, ENST00000518628, ENST00000519853, ENST00000519921, ENST00000520223, ENST00000520258, ENST00000521121, ENST00000521184, ENST00000521349, ENST00000521806, ENST00000523906, ENST00000863294, ENST00000863295, ENST00000863296, ENST00000863297, ENST00000863298, ENST00000863299, ENST00000863300, ENST00000863301, ENST00000936423, ENST00000936424, ENST00000936425, ENST00000936426, ENST00000936427, ENST00000936428, ENST00000954557, ENST00000954558, ENST00000954559, ENST00000954560, ENST00000954561

RefSeq mRNA: 3 — MANE Select: NM_178819 NM_001363197, NM_001363198, NM_178819

CCDS: CCDS6117

Canonical transcript exons

ENST00000396987 — 13 exons

Exon	Start	End
ENSE00001192053	41618684	41618812
ENSE00001335742	41609655	41609955
ENSE00001335743	41609416	41609485
ENSE00001526959	41620893	41625001
ENSE00001526992	41598292	41599304
ENSE00002123251	41578200	41578278
ENSE00003458484	41611903	41611992
ENSE00003519134	41610736	41610810
ENSE00003532949	41612180	41612273
ENSE00003549298	41612845	41612960
ENSE00003559585	41618898	41618977
ENSE00003572120	41614386	41614441
ENSE00003690527	41614963	41615048

Expression profiles

Bgee: expression breadth ubiquitous, 244 present calls, max score 98.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.1156 / max 389.1067, expressed in 1821 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
88649	19.4635	1814
88650	3.5761	1558
88648	1.5333	1061
88651	0.5427	233

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
islet of Langerhans	UBERON:0000006	98.09	gold quality
cerebellar hemisphere	UBERON:0002245	97.99	gold quality
adrenal tissue	UBERON:0018303	97.96	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.92	gold quality
cerebellar cortex	UBERON:0002129	97.88	gold quality
stromal cell of endometrium	CL:0002255	97.71	gold quality
right adrenal gland cortex	UBERON:0035827	97.67	gold quality
gastrocnemius	UBERON:0001388	97.59	gold quality
right adrenal gland	UBERON:0001233	97.45	gold quality
left adrenal gland	UBERON:0001234	97.33	gold quality
left adrenal gland cortex	UBERON:0035825	97.27	gold quality
cerebellum	UBERON:0002037	97.16	gold quality
smooth muscle tissue	UBERON:0001135	97.12	gold quality
muscle of leg	UBERON:0001383	97.06	gold quality
vermiform appendix	UBERON:0001154	97.03	gold quality
granulocyte	CL:0000094	96.98	gold quality
body of uterus	UBERON:0009853	96.95	gold quality
adrenal gland	UBERON:0002369	96.94	gold quality
cortical plate	UBERON:0005343	96.85	gold quality
endocervix	UBERON:0000458	96.79	gold quality
adrenal cortex	UBERON:0001235	96.76	gold quality
gall bladder	UBERON:0002110	96.65	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.60	gold quality
minor salivary gland	UBERON:0001830	96.58	gold quality
ganglionic eminence	UBERON:0004023	96.50	gold quality
right lobe of liver	UBERON:0001114	96.46	gold quality
right lung	UBERON:0002167	96.45	gold quality
body of pancreas	UBERON:0001150	96.39	gold quality
upper lobe of left lung	UBERON:0008952	96.36	gold quality
pancreas	UBERON:0001264	96.21	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): PPARD, PPARG

miRNA regulators (miRDB)

110 targeting GPAT4, 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-6867-5P	100.00	82.21	3464
HSA-MIR-4713-3P	100.00	65.92	505
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-4267	99.96	66.53	2368
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420

Literature-anchored findings (GeneRIF, showing 5)

• we have cloned a novel human gene and this gene may play an important role in human spermatogenesis and sexual maturation. (PMID:16625827)
• AGPAT6 is a microsomal GPAT, and we propose renaming this enzyme GPAT4. (PMID:18238778)
• Results reveal a link between the lipogenic effects of insulin and microsomal GPAT3 and GPAT4, implying their importance in glycerolipid biosynthesis. (PMID:20181984)
• None of the eleven AGPAT6 variants were robustly associated with type 2 diabetes in the Danish. (PMID:24156295)
• GPAT4 activity requires CHP1 to be N-myristoylated, forming a key molecular interface between the two proteins, regulating glycerolipid metabolism. (PMID:30846317)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	gpat4	ENSDARG00000019897
mus_musculus	Gpat4	ENSMUSG00000031545
rattus_norvegicus	Gpat4	ENSRNOG00000018077
drosophila_melanogaster	CG15450	FBGN0031132
drosophila_melanogaster	Gpat4	FBGN0034971
caenorhabditis_elegans		WBGENE00011106
caenorhabditis_elegans		WBGENE00018657

Paralogs (4): LPCAT2 (ENSG00000087253), GPAT3 (ENSG00000138678), LPCAT1 (ENSG00000153395), LPCAT4 (ENSG00000176454)

Protein

Protein identifiers

Glycerol-3-phosphate acyltransferase 4 — Q86UL3 (reviewed: Q86UL3)

Alternative names: 1-acylglycerol-3-phosphate O-acyltransferase 6, Acyl-CoA:glycerol-3-phosphate acyltransferase 4, Lysophosphatidic acid acyltransferase zeta, Testis spermatogenesis apoptosis-related protein 7

All UniProt accessions (4): E5RGW3, E5RHA6, E5RIA1, Q86UL3

UniProt curated annotations — full annotation on UniProt →

Function. Converts glycerol-3-phosphate to 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) by incorporating an acyl moiety at the sn-1 position of the glycerol backbone. Active against both saturated and unsaturated long-chain fatty acyl-CoAs. Protects cells against lipotoxicity.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Ubiquitous. High levels in testis. Relatively high level of expression in skeletal muscle and heart. Relatively low level of expression in lung.

Activity regulation. Inhibited by N-ethylmaleimide (NEM).

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.

Pathway. Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 1/3.

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

RefSeq proteins (3): NP_001350126, NP_001350127, NP_848934* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002123	Plipid/glycerol_acylTrfase	Domain
IPR045252	LPCAT1-like	Domain

Pfam: PF01553

Enzyme classification (BRENDA):

• EC 2.3.1.15 — glycerol-3-phosphate 1-O-acyltransferase (BRENDA: 53 organisms, 165 substrates, 174 inhibitors, 109 Km, 8 kcat entries)

Substrate kinetics (BRENDA)

16 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
SN-GLYCEROL 3-PHOSPHATE	0.021–4.2	29
PALMITOYL-COA	0.002–1.5	20
GLYCEROL 3-PHOSPHATE	0.025–16.4	14
OLEOYL-COA	0.005–0.1	12
STEAROYL-COA	0.004–0.013	4
MYRISTOYL-COA	0.012–0.016	3
PALMITOYL-[ACYL CARRIER PROTEIN]	0.0034–0.015	3
OLEOYL-ACP	0.0028–0.003	2
PALMITOYL-ACP	0.0032–0.0056	2
ACYL-ACP	0.07	1
OLEOYL-[ACYL-CARRIER PROTEIN]	0.0078	1
PALMITOLEOYL-COA	0.0267	1
PALMITOYL-[ACYL-CARRIER PROTEIN]	0.002	1
STEAROYL-ACP	0.0033	1
STEAROYL-[ACYL-CARRIER PROTEIN]	0.0061	1

Catalyzed reactions (Rhea), 6 shown:

• sn-glycerol 3-phosphate + an acyl-CoA = a 1-acyl-sn-glycero-3-phosphate + CoA (RHEA:15325)
• sn-glycerol 3-phosphate + hexadecanoyl-CoA = 1-hexadecanoyl-sn-glycero-3-phosphate + CoA (RHEA:35723)
• dodecanoyl-CoA + sn-glycerol 3-phosphate = 1-dodecanoyl-sn-glycerol 3-phosphate + CoA (RHEA:35727)
• sn-glycerol 3-phosphate + octadecanoyl-CoA = 1-octadecanoyl-sn-glycero-3-phosphate + CoA (RHEA:37195)
• sn-glycerol 3-phosphate + (9Z)-octadecenoyl-CoA = 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + CoA (RHEA:37199)
• (9Z,12Z)-octadecadienoyl-CoA + sn-glycerol 3-phosphate = 1-(9Z,12Z)-octadecadienoyl-sn-glycero-3-phosphate + CoA (RHEA:37203)

UniProt features (9 total): glycosylation site 4, transmembrane region 2, signal peptide 1, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86UL3-F1	85.28	0.48

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (4): 247, 327, 328, 362

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-1483166	Synthesis of PA

MSigDB gene sets: 151 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLCHOLINE_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLCHOLINE_BIOSYNTHETIC_PROCESS, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_GROWTH, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS

GO Biological Process (15): glandular epithelial cell maturation (GO:0002071), fatty acid metabolic process (GO:0006631), acyl-CoA metabolic process (GO:0006637), phosphatidic acid biosynthetic process (GO:0006654), phosphatidylcholine biosynthetic process (GO:0006656), lactation (GO:0007595), lipid biosynthetic process (GO:0008610), CDP-diacylglycerol biosynthetic process (GO:0016024), triglyceride biosynthetic process (GO:0019432), regulation of multicellular organism growth (GO:0040014), diacylglycerol metabolic process (GO:0046339), lipid metabolic process (GO:0006629), triglyceride metabolic process (GO:0006641), phospholipid biosynthetic process (GO:0008654), mammary gland development (GO:0030879)

GO Molecular Function (7): 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841), glycerol-3-phosphate O-acyltransferase activity (GO:0004366), protein binding (GO:0005515), obsolete O-acyltransferase activity (GO:0008374), transferase activity (GO:0016740), acyltransferase activity (GO:0016746), lysophosphatidic acid acyltransferase activity (GO:0042171)

GO Cellular Component (3): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Glycerophospholipid biosynthesis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glycerophospholipid biosynthetic process	3
lipid metabolic process	2
acylglycerol metabolic process	2
glandular epithelial cell development	1
columnar/cuboidal epithelial cell maturation	1
monocarboxylic acid metabolic process	1
nucleoside phosphate metabolic process	1
sulfur compound metabolic process	1
purine-containing compound metabolic process	1
phosphatidic acid metabolic process	1
phosphatidylcholine metabolic process	1
body fluid secretion	1
mammary gland development	1
milk ejection reflex	1
biosynthetic process	1
CDP-diacylglycerol metabolic process	1
triglyceride metabolic process	1
acylglycerol biosynthetic process	1
multicellular organism growth	1
regulation of developmental growth	1
regulation of multicellular organismal process	1
primary metabolic process	1
phospholipid metabolic process	1
lipid biosynthetic process	1
organophosphate biosynthetic process	1
gland development	1
acylglycerol O-acyltransferase activity	1
lysophosphatidic acid acyltransferase activity	1
acyltransferase activity, transferring groups other than amino-acyl groups	1
binding	1
catalytic activity	1
transferase activity	1
lysophospholipid acyltransferase activity	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
cellular anatomical structure	1

Protein interactions and networks

STRING

2060 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GPAT4	GPAM	Q9HCL2	910
GPAT4	MBOAT2	Q6ZWT7	862
GPAT4	AGPAT1	Q99943	773
GPAT4	BSCL2	Q96G97	768
GPAT4	DGAT1	O75907	761
GPAT4	GPAT2	Q6NUI2	761
GPAT4	DGAT2	Q96PD7	745
GPAT4	AGPAT3	Q9NRZ7	736
GPAT4	AGPAT2	O15120	723
GPAT4	AGPAT4	Q9NRZ5	670
GPAT4	AGPAT5	Q9NUQ2	667
GPAT4	LPIN1	Q14693	637
GPAT4	FASN	P49327	624
GPAT4	LPIN3	Q9BQK8	607
GPAT4	AUP1	Q9Y679	594

IntAct

95 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
AUP1	APOB	psi-mi:“MI:0914”(association)	0.610
GPAT4	CHP1	psi-mi:“MI:0915”(physical association)	0.560
GPAT4	GSDME	psi-mi:“MI:0914”(association)	0.530
CD70	METTL15	psi-mi:“MI:0914”(association)	0.530
APLNR	SLC33A1	psi-mi:“MI:0914”(association)	0.530
TMEM184A	SLC33A1	psi-mi:“MI:0914”(association)	0.530
SLC6A8	ILVBL	psi-mi:“MI:0914”(association)	0.530
	SCD	psi-mi:“MI:0914”(association)	0.500
HSD17B7	GPAT4	psi-mi:“MI:0915”(physical association)	0.370
	ESYT2	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
	TSPO	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
M	TM9SF1	psi-mi:“MI:0914”(association)	0.350
SLC16A11	ESYT2	psi-mi:“MI:0914”(association)	0.350
STK32C	ILVBL	psi-mi:“MI:0914”(association)	0.350
POMK	ESYT2	psi-mi:“MI:0914”(association)	0.350
CDIPT	GPAT4	psi-mi:“MI:0914”(association)	0.350
MGARP	BTAF1	psi-mi:“MI:0914”(association)	0.350
TTYH1	TMEM223	psi-mi:“MI:0914”(association)	0.350
TSPAN15	TMEM223	psi-mi:“MI:0914”(association)	0.350
CMTM5	TMEM120B	psi-mi:“MI:0914”(association)	0.350
FEM1A	RNF113A	psi-mi:“MI:0914”(association)	0.350
FFAR1	SLC12A8	psi-mi:“MI:0914”(association)	0.350
GPR182	SLC12A8	psi-mi:“MI:0914”(association)	0.350

BioGRID (184): AGPAT6 (Affinity Capture-RNA), AGPAT6 (Affinity Capture-RNA), AGPAT6 (Affinity Capture-MS), AGPAT6 (Affinity Capture-MS), AGPAT6 (Proximity Label-MS), AGPAT6 (Proximity Label-MS), AGPAT6 (Proximity Label-MS), AGPAT6 (Proximity Label-MS), EHD2 (Affinity Capture-MS), DFNA5 (Affinity Capture-MS), AGPAT6 (Affinity Capture-RNA), AGPAT6 (Affinity Capture-MS), AGPAT6 (Affinity Capture-MS), AGPAT6 (Proximity Label-MS), AGPAT6 (Affinity Capture-MS)

ESM2 similar proteins: A0A0E0S977, A2WV32, A2XN66, A2XNT2, A2Y0X2, A2Z1C8, A2ZAK8, A3FPG8, A3KGT9, C4R4B3, F9WWD1, G2X5A0, G4MWY1, G4YM00, G4Z2L3, G5EBQ8, I1RB03, I1RPI4, O18037, O48946, O48947, O49323, P30628, P78611, Q11087, Q4V8J4, Q53EU6, Q5AMQ4, Q5JN63, Q5R6J7, Q5ZLL8, Q68F37, Q69P51, Q69V23, Q6AT26, Q6DG38, Q84M43, Q84ZN6, Q851L8, Q86UL3

Diamond homologs: A3FPG8, A3KGT9, Q4V8J4, Q53EU6, Q5R6J7, Q5ZLL8, Q68F37, Q6DG38, Q86UL3, Q8C0N2, Q8GWG0, Q8K2C8, Q1HAQ0, Q3TFD2, Q8NF37

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 115 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
intracellular zinc ion homeostasis	5	24.1×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	29
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2392 predictions. Top by Δscore:

Variant	Effect	Δscore
8:41609412:CCA:C	acceptor_loss	1.0000
8:41609413:CA:C	acceptor_loss	1.0000
8:41609414:A:AG	acceptor_gain	1.0000
8:41609414:AGT:A	acceptor_gain	1.0000
8:41609414:AGTG:A	acceptor_gain	1.0000
8:41609414:AGTGG:A	acceptor_gain	1.0000
8:41609415:G:GT	acceptor_gain	1.0000
8:41609415:GT:G	acceptor_gain	1.0000
8:41609415:GTG:G	acceptor_gain	1.0000
8:41609415:GTGG:G	acceptor_gain	1.0000
8:41609415:GTGGG:G	acceptor_gain	1.0000
8:41609651:GCA:G	acceptor_loss	1.0000
8:41609652:CA:C	acceptor_loss	1.0000
8:41609653:A:AG	acceptor_gain	1.0000
8:41609653:AG:A	acceptor_gain	1.0000
8:41609653:AGGA:A	acceptor_loss	1.0000
8:41609654:G:GC	acceptor_gain	1.0000
8:41609654:GG:G	acceptor_gain	1.0000
8:41609654:GGA:G	acceptor_gain	1.0000
8:41609654:GGAA:G	acceptor_gain	1.0000
8:41609654:GGAAT:G	acceptor_gain	1.0000
8:41609881:G:GG	donor_gain	1.0000
8:41609952:TCAG:T	donor_loss	1.0000
8:41609955:GGTGA:G	donor_loss	1.0000
8:41609956:G:T	donor_loss	1.0000
8:41609957:T:A	donor_loss	1.0000
8:41611899:GCAG:G	acceptor_loss	1.0000
8:41611900:CAGGT:C	acceptor_loss	1.0000
8:41611901:AGGTT:A	acceptor_loss	1.0000
8:41611902:G:A	acceptor_loss	1.0000

AlphaMissense

3010 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:41609822:T:C	F135L	1.000
8:41609824:C:A	F135L	1.000
8:41609824:C:G	F135L	1.000
8:41609955:G:T	R179M	1.000
8:41612219:T:A	N247K	1.000
8:41612219:T:G	N247K	1.000
8:41612220:C:G	H248D	1.000
8:41612222:T:A	H248Q	1.000
8:41612222:T:G	H248Q	1.000
8:41612236:A:T	D253V	1.000
8:41612917:T:C	F290L	1.000
8:41612918:T:C	F290S	1.000
8:41612919:T:A	F290L	1.000
8:41612919:T:G	F290L	1.000
8:41614432:T:C	F320L	1.000
8:41614434:C:A	F320L	1.000
8:41614434:C:G	F320L	1.000
8:41614441:G:A	G323R	1.000
8:41614441:G:C	G323R	1.000
8:41614968:T:C	C325R	1.000
8:41614969:G:A	C325Y	1.000
8:41614970:C:G	C325W	1.000
8:41614976:T:A	N327K	1.000
8:41614976:T:G	N327K	1.000
8:41614995:T:C	F334L	1.000
8:41614996:T:C	F334S	1.000
8:41614997:C:A	F334L	1.000
8:41614997:C:G	F334L	1.000
8:41614999:A:T	K335I	1.000
8:41615000:A:C	K335N	1.000

dbSNP variants (sampled 300 via entrez): RS1000085147 (8:41590622 C>T), RS1000099675 (8:41576490 C>T), RS1000183045 (8:41591237 T>TA), RS1000196096 (8:41625079 A>C), RS1000231997 (8:41618212 G>A,T), RS1000239945 (8:41593946 A>G), RS1000293445 (8:41612252 C>G,T), RS1000323971 (8:41612595 A>G), RS1000331177 (8:41588064 T>C), RS1000421659 (8:41605838 C>T), RS1000448970 (8:41588357 G>T), RS1000457131 (8:41578795 T>C,G), RS1000472874 (8:41584475 C>T), RS1000483404 (8:41582556 A>G), RS1000570049 (8:41595160 T>G)

Disease associations

OMIM: gene MIM:608143 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523372 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Arsenic	affects methylation, decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
bisphenol F	increases expression, affects cotreatment	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
sodium arsenite	decreases expression, increases abundance	1
benzo(e)pyrene	increases methylation	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	increases expression, affects cotreatment	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
GW 4064	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Microplastics	increases abundance, increases expression	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Coumestrol	affects cotreatment, increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Chlorpyrifos	decreases response to substance	1
Farnesol	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Methapyrilene	increases methylation	1
Polyethylene Terephthalates	increases abundance, increases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Urethane	increases expression	1
1-Methyl-3-isobutylxanthine	increases expression, affects cotreatment	1
Aflatoxin B1	increases expression	1
Antirheumatic Agents	decreases expression	1
Oleic Acid	affects cotreatment, increases expression, decreases expression	1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4482384	Binding	Inhibition of GPAT4 (unknown origin) expressed in Sf9 cell membranes assessed as reduction in glycerol 3-phosphate acyltransferase activity at 10 uM using [3H]-glycerol 3-phosphate and palmitoyl CoA incubated for 60 mins by scintillation co	Test system for measuring mest activity as well as methods and uses involving the same

Clinical trials (associated diseases)

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