AGPAT1

Summary

AGPAT1 (1-acylglycerol-3-phosphate O-acyltransferase 1, HGNC:324) is a protein-coding gene on chromosome 6p21.32, encoding 1-acyl-sn-glycerol-3-phosphate acyltransferase alpha (Q99943). 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.

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. This gene is located in the class III region of the human major histocompatibility complex. Alternative splicing results in two transcript variants encoding the same protein.

Source: NCBI Gene 10554 — RefSeq curated summary.

At a glance

• GWAS associations: 24
• Clinical variants (ClinVar): 17 total
• Druggable target: yes
• MANE Select transcript: NM_006411

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:324
Approved symbol	AGPAT1
Name	1-acylglycerol-3-phosphate O-acyltransferase 1
Location	6p21.32
Locus type	gene with protein product
Status	Approved
Aliases	LPAAT-alpha, LPLAT1
Ensembl gene	ENSG00000204310
Ensembl biotype	protein_coding
OMIM	603099
Entrez	10554

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 18 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000336984, ENST00000375104, ENST00000375107, ENST00000395496, ENST00000395497, ENST00000395499, ENST00000476663, ENST00000490711, ENST00000910150, ENST00000910151, ENST00000910152, ENST00000910153, ENST00000929383, ENST00000929384, ENST00000929385, ENST00000929386, ENST00000929387, ENST00000929388, ENST00000929389, ENST00000942651

RefSeq mRNA: 5 — MANE Select: NM_006411 NM_001371437, NM_001371438, NM_001371439, NM_006411, NM_032741

CCDS: CCDS4744

Canonical transcript exons

ENST00000375107 — 7 exons

Exon	Start	End
ENSE00001788650	32175814	32176084
ENSE00003522571	32170937	32171070
ENSE00003552394	32168212	32169448
ENSE00003580303	32170425	32170600
ENSE00003593684	32171297	32171505
ENSE00003619040	32169966	32170038
ENSE00003688637	32170165	32170260

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 96.84.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.0431 / max 201.7010, expressed in 1809 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter ID	TPM avg	Samples expressed
72903	17.1399	1800
72905	1.4964	722
72909	1.1500	669
72898	1.1117	756
72897	1.0395	496
72900	0.8046	516
72907	0.7992	402
72906	0.5043	227
72896	0.3019	123
72904	0.2929	82

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right frontal lobe	UBERON:0002810	96.84	gold quality
superior frontal gyrus	UBERON:0002661	96.77	gold quality
left testis	UBERON:0004533	96.65	gold quality
right testis	UBERON:0004534	96.57	gold quality
cortical plate	UBERON:0005343	96.51	gold quality
anterior cingulate cortex	UBERON:0009835	96.39	gold quality
stromal cell of endometrium	CL:0002255	96.21	gold quality
primary visual cortex	UBERON:0002436	96.21	gold quality
Ammon’s horn	UBERON:0001954	96.07	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	96.06	gold quality
nucleus accumbens	UBERON:0001882	96.01	gold quality
hypothalamus	UBERON:0001898	95.97	gold quality
ganglionic eminence	UBERON:0004023	95.92	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.90	gold quality
putamen	UBERON:0001874	95.88	gold quality
temporal lobe	UBERON:0001871	95.86	gold quality
amygdala	UBERON:0001876	95.83	gold quality
caudate nucleus	UBERON:0001873	95.75	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.67	gold quality
lower esophagus	UBERON:0013473	95.64	gold quality
testis	UBERON:0000473	95.63	gold quality
right ovary	UBERON:0002118	95.63	gold quality
substantia nigra	UBERON:0002038	95.58	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.55	gold quality
tibial nerve	UBERON:0001323	95.53	gold quality
body of uterus	UBERON:0009853	95.52	gold quality
smooth muscle tissue	UBERON:0001135	95.49	gold quality
fundus of stomach	UBERON:0001160	95.49	gold quality
left uterine tube	UBERON:0001303	95.48	gold quality
fallopian tube	UBERON:0003889	95.44	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.94

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

110 targeting AGPAT1, 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-7110-3P	100.00	73.18	2486
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942

Literature-anchored findings (GeneRIF, showing 3)

• The differences in expression of AGPAT1 in human monocytes and macrophages, and its effect on platelet-activating factor in these cells is reported. (PMID:16571775)
• Results suggest that motifs II and III of 1-acyl-sn-glycero-3-phosphate acyltransferase 1 are involved in lysophosphatidic acid binding, and motifs I and IV are involved in acyl-CoA binding. (PMID:17707131)
• AGPAT1 as a Novel Colonic Biomarker for Discriminating Between Ulcerative Colitis With and Without Primary Sclerosing Cholangitis. (PMID:35363634)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
mus_musculus	Agpat1	ENSMUSG00000034254
rattus_norvegicus	Agpat1	ENSRNOG00000000437
drosophila_melanogaster	Agpat2	FBGN0026718
drosophila_melanogaster	Agpat1	FBGN0030421
caenorhabditis_elegans		WBGENE00010339
caenorhabditis_elegans		WBGENE00011543

Paralogs (1): AGPAT2 (ENSG00000169692)

Protein

Protein identifiers

1-acyl-sn-glycerol-3-phosphate acyltransferase alpha — Q99943 (reviewed: Q99943)

Alternative names: 1-acylglycerol-3-phosphate O-acyltransferase 1, Lysophosphatidic acid acyltransferase alpha, Protein G15

All UniProt accessions (2): A0A024RCV5, Q99943

UniProt curated annotations — full annotation on UniProt →

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.

Subcellular location. Endoplasmic reticulum membrane.

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 and liver.

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 2/3.

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

RefSeq proteins (5): NP_001358366, NP_001358367, NP_001358368, NP_006402, NP_116130 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002123	Plipid/glycerol_acylTrfase	Domain
IPR004552	AGP_acyltrans	Domain

Pfam: PF01553

Enzyme classification (BRENDA):

• EC 2.3.1.51 — 1-acylglycerol-3-phosphate O-acyltransferase (BRENDA: 39 organisms, 381 substrates, 31 inhibitors, 32 Km, 4 kcat entries)

Substrate kinetics (BRENDA)

7 substrates with measured Km, best-characterized 7. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
1-ACYL-SN-GLYCEROL 3-PHOSPHATE	0.0053–0.125	8
OLEOYL-COA	0.0027–0.0215	8
PALMITOYL-COA	0.0014–0.012	8
1-OLEOYL-SN-GLYCEROL 3-PHOSPHATE	0.0048–0.018	5
1-PALMITOYL-SN-GLYCEROL 3-PHOSPHATE	0.003	1
DOCOSAHEXAENOYL-COA	0.0138	1
PAMITOLEOYL-COA	0.0368	1

Catalyzed reactions (Rhea), 12 shown:

• a 1-acyl-sn-glycero-3-phosphate + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphate + CoA (RHEA:19709)
• 1-hexadecanoyl-sn-glycero-3-phosphate + (9Z)-octadecenoyl-CoA = 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphate + CoA (RHEA:33187)
• 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + (9Z)-octadecenoyl-CoA = 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphate + CoA (RHEA:37131)
• 1-(9Z,12Z,15Z)-octadecatrienoyl-sn-glycero-3-phosphate + (9Z)-octadecenoyl-CoA = 1-(9Z,12Z,15Z)-octadecatrienoyl-2-(9Z)-octadecenoyl-sn-glycero-3-phosphate + CoA (RHEA:37139)
• 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + hexadecanoyl-CoA = 1-(9Z)-octadecenoyl-2-hexadecanoyl-sn-glycero-3-phosphate + CoA (RHEA:37143)
• 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + octadecanoyl-CoA = 1-(9Z-octadecenoyl)-2-octadecanoyl-sn-glycero-3-phosphate + CoA (RHEA:37147)
• heptadecanoyl-CoA + 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate = 1-(9Z)-octadecenoyl-2-heptadecanoyl-sn-glycero-3-phosphate + CoA (RHEA:37155)
• 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + (9Z,12Z)-octadecadienoyl-CoA = 1-(9Z)-octadecenoyl-2-(9Z,12Z)-octadecadienoyl-sn-glycero-3-phosphate + CoA (RHEA:37159)
• 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + tetradecanoyl-CoA = 1-(9Z)-octadecenoyl-2-tetradecanoyl-sn-glycero-3-phosphate + CoA (RHEA:37171)
• pentadecanoyl-CoA + 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate = 1-(9Z)-octadecenoyl-2-pentadecanoyl-sn-glycero-3-phosphate + CoA (RHEA:37175)
• 1-(6Z,9Z,12Z-octadecatrienoyl)-sn-glycero-3-phosphate + (9Z)-octadecenoyl-CoA = (6Z,9Z,12Z)-octadecatrienoyl-2-(9Z)-octadecenoyl-sn-glycero-3-phosphate + CoA (RHEA:37179)
• 1-eicosanoyl-sn-glycero-3-phosphate + (9Z)-octadecenoyl-CoA = 1-eicosanoyl-2-(9Z)-octadecenoyl-sn-glycero-3-phosphate + CoA (RHEA:37183)

UniProt features (10 total): topological domain 3, transmembrane region 2, short sequence motif 2, signal peptide 1, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q99943-F1	91.31	0.79

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-1483166	Synthesis of PA
R-HSA-163765	ChREBP activates metabolic gene expression

MSigDB gene sets: 223 (showing top): FLECHNER_PBL_KIDNEY_TRANSPLANT_REJECTED_VS_OK_UP, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_RESPONSE_TO_PEPTIDE, STEARMAN_LUNG_CANCER_EARLY_VS_LATE_DN, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, HSIAO_HOUSEKEEPING_GENES, KYNG_DNA_DAMAGE_DN, CREBP1_Q2, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, CREB_Q4, GOBP_GLYCEROLIPID_METABOLIC_PROCESS

GO Biological Process (7): positive regulation of cytokine production (GO:0001819), positive regulation of cytokine-mediated signaling pathway (GO:0001961), phospholipid metabolic process (GO:0006644), phosphatidic acid biosynthetic process (GO:0006654), CDP-diacylglycerol biosynthetic process (GO:0016024), lipid metabolic process (GO:0006629), phospholipid biosynthetic process (GO:0008654)

GO Molecular Function (4): 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)

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

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Glycerophospholipid biosynthesis	1
Integration of energy metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glycerophospholipid biosynthetic process	2
cytokine production	1
regulation of cytokine production	1
positive regulation of gene expression	1
positive regulation of multicellular organismal process	1
regulation of cytokine-mediated signaling pathway	1
positive regulation of signal transduction	1
cytokine-mediated signaling pathway	1
positive regulation of response to cytokine stimulus	1
lipid metabolic process	1
organophosphate metabolic process	1
phosphatidic acid metabolic process	1
CDP-diacylglycerol metabolic process	1
primary metabolic process	1
phospholipid metabolic process	1
lipid biosynthetic process	1
organophosphate biosynthetic process	1
acylglycerol O-acyltransferase activity	1
lysophosphatidic acid acyltransferase activity	1
binding	1
catalytic activity	1
transferase 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

1808 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AGPAT1	PBX3	P40426	810
AGPAT1	PBX2	P40425	805
AGPAT1	AGPAT3	Q9NRZ7	803
AGPAT1	DGAT1	O75907	802
AGPAT1	GPAT4	Q86UL3	773
AGPAT1	GPAM	Q9HCL2	755
AGPAT1	AGPAT4	Q9NRZ5	751
AGPAT1	GPAT3	Q53EU6	695
AGPAT1	AGPAT5	Q9NUQ2	668
AGPAT1	LPCAT4	Q643R3	646
AGPAT1	DGAT2	Q96PD7	634
AGPAT1	MOGAT1	Q96PD6	627
AGPAT1	NOTCH4	Q99466	620
AGPAT1	GPAT2	Q6NUI2	609
AGPAT1	TLCD5	Q6ZRR5	587

IntAct

62 interactions, top by confidence:

A	B	Type	Score
AGPAT1	RNASEH2A	psi-mi:“MI:0915”(physical association)	0.590
MEOX2	AGPAT1	psi-mi:“MI:0915”(physical association)	0.560
AGPAT1	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
HAVCR2	TCAF2	psi-mi:“MI:0914”(association)	0.530
TNFRSF17	TSPAN6	psi-mi:“MI:0914”(association)	0.530
CRP	QSOX1	psi-mi:“MI:0914”(association)	0.530
C1orf54	EXTL3	psi-mi:“MI:0914”(association)	0.530
Hoxa1	AGPAT1	psi-mi:“MI:0915”(physical association)	0.370
WTAP	DDX39A	psi-mi:“MI:0914”(association)	0.350
C5AR2	ILVBL	psi-mi:“MI:0914”(association)	0.350
POMK	ESYT2	psi-mi:“MI:0914”(association)	0.350
MYC		psi-mi:“MI:0914”(association)	0.350
IGHM	ESYT2	psi-mi:“MI:0914”(association)	0.350
KLRC1	METTL15	psi-mi:“MI:0914”(association)	0.350
CLEC4E	ESYT2	psi-mi:“MI:0914”(association)	0.350
TTMP	NBAS	psi-mi:“MI:0914”(association)	0.350
BTNL2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
KLRD1	TMEM131L	psi-mi:“MI:0914”(association)	0.350
SFTPC	TMEM131L	psi-mi:“MI:0914”(association)	0.350
LY86	TMEM131L	psi-mi:“MI:0914”(association)	0.350
P2RX2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
PTCH1	TMEM131L	psi-mi:“MI:0914”(association)	0.350
ALPG	POTEF	psi-mi:“MI:0914”(association)	0.350
TMEM87A	POTEF	psi-mi:“MI:0914”(association)	0.350
LDLRAD1	ZNF316	psi-mi:“MI:0914”(association)	0.350
AGPAT1	A2ML1	psi-mi:“MI:0914”(association)	0.350
ISLR		psi-mi:“MI:0914”(association)	0.350

BioGRID (283): AGPAT1 (Two-hybrid), AGPAT1 (Affinity Capture-RNA), AGPAT1 (Affinity Capture-RNA), RNASEH2A (Affinity Capture-MS), AGPAT1 (Proximity Label-MS), AGPAT1 (Proximity Label-MS), RNASEH2A (Affinity Capture-MS), AGPAT1 (Affinity Capture-MS), AGPAT1 (Affinity Capture-MS), AGPAT1 (Affinity Capture-MS), AGPAT1 (Affinity Capture-RNA), TSPO (Negative Genetic), KSR1 (Negative Genetic), PRKAR1A (Positive Genetic), AGPAT1 (Affinity Capture-MS)

ESM2 similar proteins: A2AIG8, A6NFX1, O15315, O35083, O35719, O35790, O43502, O54783, O54804, O55229, O73884, P16442, P20417, P35790, P35821, P47802, Q01134, Q08DW9, Q27HK4, Q2TBS1, Q3T9M1, Q3U129, Q4R3I0, Q4R766, Q4R7M4, Q5E9H2, Q5E9T4, Q5SUV1, Q5SX19, Q5VYX0, Q6GV29, Q86XW9, Q8BVM4, Q8CIW5, Q8N2K0, Q8NBA8, Q8QGV6, Q8R2J9, Q8TCT0, Q924H5

Diamond homologs: A8J0J0, D5AQD5, O15120, P0A257, P0A258, P26647, P33333, P75479, Q49402, Q8GXU8, Q8K3K7, Q95JH0, Q95JH2, Q99943, Q9LLY4, Q9US20, O25903, O35083, P44848, Q22267, Q42670, Q42868, Q42870, Q59188, Q93841, Q9I7C1, Q9ZJN8, Q59601, Q9JU41, Q9JZ47, Q28C60, Q6DCK1, Q8L7R3, Q41745, Q9SYC8, Q7APG1, A1AF47, A1JPF0, A4TLD3, A6TDH2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	9
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1424 predictions. Top by Δscore:

Variant	Effect	Δscore
6:32169955:AAAGC:A	donor_gain	1.0000
6:32169960:CCTCA:C	donor_loss	1.0000
6:32169961:CTCA:C	donor_loss	1.0000
6:32169962:TCA:T	donor_loss	1.0000
6:32169963:CACCC:C	donor_loss	1.0000
6:32169964:AC:A	donor_gain	1.0000
6:32169965:CC:C	donor_gain	1.0000
6:32170037:ACC:A	acceptor_loss	1.0000
6:32170040:T:G	acceptor_loss	1.0000
6:32170160:GTCA:G	donor_loss	1.0000
6:32170161:TCA:T	donor_loss	1.0000
6:32170162:CA:C	donor_loss	1.0000
6:32170163:ACCT:A	donor_loss	1.0000
6:32170164:CCTGG:C	donor_loss	1.0000
6:32170260:CCTGG:C	acceptor_loss	1.0000
6:32170262:T:G	acceptor_loss	1.0000
6:32170423:A:AC	donor_gain	1.0000
6:32170423:ACGT:A	donor_gain	1.0000
6:32170423:ACGTC:A	donor_gain	1.0000
6:32170424:C:CC	donor_gain	1.0000
6:32170424:CGT:C	donor_gain	1.0000
6:32170424:CGTC:C	donor_gain	1.0000
6:32170424:CGTCC:C	donor_gain	1.0000
6:32170426:T:TA	donor_gain	1.0000
6:32171295:A:AC	donor_gain	1.0000
6:32171296:C:CC	donor_gain	1.0000
6:32171296:CTT:C	donor_gain	1.0000
6:32171298:T:TA	donor_gain	1.0000
6:32171317:T:TA	donor_gain	1.0000
6:32171502:CCAC:C	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000087124 (6:32169522 G>A), RS1001325703 (6:32168680 G>C), RS1001654208 (6:32177850 G>A,C), RS1001880223 (6:32177658 T>G), RS1001931923 (6:32169035 A>G), RS1002261447 (6:32169307 T>C), RS1002950509 (6:32173065 G>A), RS1003155253 (6:32176022 C>A,T), RS1003326616 (6:32179667 C>T), RS1003376524 (6:32174258 A>C,G), RS1003540821 (6:32171142 T>C), RS1003839129 (6:32170783 C>A,T), RS1003877948 (6:32170360 TCA>T), RS1004356243 (6:32179380 GCTAA>G), RS1005517045 (6:32168958 G>C)

Disease associations

OMIM: gene MIM:603099 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

24 associations (top):

Study	Trait	p-value
GCST001414_21	Phospholipid levels (plasma)	8.000000e-10
GCST001834_3	Oleic acid (18:1n-9) levels	1.000000e-06
GCST001942_21	Prostate cancer	5.000000e-09
GCST002448_2	Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid)	6.000000e-06
GCST002915_1	Asparaginase hypersensitivity in acute lymphoblastic leukemia	7.000000e-06
GCST003450_2	Clozapine-induced agranulocytosis/granulocytopenia in treatment-resistant schizophrenia	3.000000e-09
GCST004131_25	Inflammatory bowel disease	2.000000e-31
GCST004133_79	Ulcerative colitis	5.000000e-65
GCST004521_114	Autism spectrum disorder or schizophrenia	3.000000e-17
GCST004521_117	Autism spectrum disorder or schizophrenia	3.000000e-15
GCST004521_118	Autism spectrum disorder or schizophrenia	3.000000e-15
GCST004521_126	Autism spectrum disorder or schizophrenia	2.000000e-10
GCST004521_154	Autism spectrum disorder or schizophrenia	3.000000e-08
GCST004521_17	Autism spectrum disorder or schizophrenia	2.000000e-12
GCST004521_170	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_173	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_211	Autism spectrum disorder or schizophrenia	5.000000e-15
GCST004521_213	Autism spectrum disorder or schizophrenia	5.000000e-13
GCST004521_226	Autism spectrum disorder or schizophrenia	4.000000e-12
GCST004521_276	Autism spectrum disorder or schizophrenia	5.000000e-10
GCST004521_296	Autism spectrum disorder or schizophrenia	6.000000e-18
GCST004521_81	Autism spectrum disorder or schizophrenia	1.000000e-14
GCST007269_247	Pulse pressure	1.000000e-23
GCST008916_27	Asthma	5.000000e-31

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0005680	omega-6 polyunsaturated fatty acid measurement
EFO:0004881	asparaginase hypersensitivity
EFO:0005763	pulse pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3583 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, affects methylation, affects cotreatment, increases expression	4
bisphenol A	affects expression, affects cotreatment, increases methylation	2
Cyclosporine	decreases expression	2
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	increases expression	1
beta-lapachone	decreases expression	1
4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone	affects cotreatment, increases expression	1
mono-(2-ethylhexyl)phthalate	decreases methylation, increases abundance	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
cadmium acetate	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
GW 4064	affects cotreatment, decreases expression, increases expression	1
GW 7647	increases expression	1
6-(4-chlorophenyl)imidazo(2,1-b)(1,3)thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Microplastics	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Dexamethasone	affects cotreatment, increases expression	1
Diethylhexyl Phthalate	increases abundance, decreases methylation	1
Farnesol	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Phenobarbital	affects expression	1
Phthalic Acids	decreases methylation	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL710868	Binding	Inhibitory activity against human lysophosphatidic acid acyltransferase-alpha (LPAAT-alpha) expressed in Sf9 insect cell membranes at <20 uM; Not active	Synthesis and SAR of 2-arylbenzoxazoles, benzothiazoles and benzimidazoles as inhibitors of lysophosphatidic acid acyltransferase-beta. — Bioorg Med Chem Lett

Clinical trials (associated diseases)

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