MBOAT1

Summary

MBOAT1 (membrane bound glycerophospholipid O-acyltransferase 1, HGNC:21579) is a protein-coding gene on chromosome 6p22.3, encoding Membrane-bound glycerophospholipid O-acyltransferase 1 (Q6ZNC8). Acyltransferase which catalyzes the transfer of an acyl group from an acyl-CoA towards a lysophospholipid producing a phospholipid and participates in the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle.

This gene belongs to the membrane-bound O-acetyltransferase superfamily. The encoded transmembrane protein is an enzyme that transfers organic compounds, preferably from oleoyl-CoA, to hydroxyl groups of protein targets in membranes. A translocation disrupting this gene may be associated with brachydactyly syndactyly syndrome. Alternately spliced transcript variants have been described for this gene.

Source: NCBI Gene 154141 — RefSeq curated summary.

At a glance

• GWAS associations: 11
• Clinical variants (ClinVar): 91 total
• Druggable target: yes
• MANE Select transcript: NM_001080480

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21579
Approved symbol	MBOAT1
Name	membrane bound glycerophospholipid O-acyltransferase 1
Location	6p22.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC44669, dJ434O11.1, LPEAT1, LPLAT14
Ensembl gene	ENSG00000172197
Ensembl biotype	protein_coding
OMIM	611732
Entrez	154141

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000324607, ENST00000883939, ENST00000929690, ENST00000969078

RefSeq mRNA: 1 — MANE Select: NM_001080480 NM_001080480

CCDS: CCDS34346

Canonical transcript exons

ENST00000324607 — 13 exons

Exon	Start	End
ENSE00001148481	20131144	20131199
ENSE00001174497	20126517	20126700
ENSE00001174503	20128699	20128753
ENSE00001174515	20112876	20113008
ENSE00001286025	20118437	20118540
ENSE00001286042	20109598	20109749
ENSE00001286057	20115288	20115352
ENSE00001286076	20124408	20124600
ENSE00001299453	20212136	20212469
ENSE00001403889	20099684	20102412
ENSE00003551116	20144220	20144315
ENSE00003561813	20151185	20151262
ENSE00003680341	20152624	20152769

Expression profiles

Bgee: expression breadth ubiquitous, 220 present calls, max score 97.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.6688 / max 485.8530, expressed in 1536 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
72083	11.1658	1525
72087	0.1710	77
72084	0.1662	66
72085	0.0958	34
72086	0.0700	28

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oviduct epithelium	UBERON:0004804	97.32	gold quality
ileal mucosa	UBERON:0000331	94.48	gold quality
right uterine tube	UBERON:0001302	93.24	gold quality
mucosa of transverse colon	UBERON:0004991	91.97	gold quality
fallopian tube	UBERON:0003889	90.12	gold quality
tendon of biceps brachii	UBERON:0008188	89.77	gold quality
mucosa of sigmoid colon	UBERON:0004993	88.83	gold quality
nasal cavity epithelium	UBERON:0005384	88.75	gold quality
bronchial epithelial cell	CL:0002328	88.74	gold quality
epithelium of nasopharynx	UBERON:0001951	88.53	gold quality
colonic mucosa	UBERON:0000317	88.49	gold quality
bronchus	UBERON:0002185	88.07	gold quality
rectum	UBERON:0001052	87.67	gold quality
tibia	UBERON:0000979	87.20	gold quality
monocyte	CL:0000576	87.18	gold quality
leukocyte	CL:0000738	86.84	gold quality
transverse colon	UBERON:0001157	86.55	gold quality
epithelial cell of pancreas	CL:0000083	85.50	silver quality
duodenum	UBERON:0002114	85.47	gold quality
tibial nerve	UBERON:0001323	84.65	gold quality
palpebral conjunctiva	UBERON:0001812	84.60	gold quality
blood	UBERON:0000178	84.48	gold quality
small intestine Peyer’s patch	UBERON:0003454	84.28	gold quality
large intestine	UBERON:0000059	84.22	gold quality
colon	UBERON:0001155	84.17	gold quality
intestine	UBERON:0000160	83.95	gold quality
tendon	UBERON:0000043	83.89	gold quality
granulocyte	CL:0000094	83.79	gold quality
calcaneal tendon	UBERON:0003701	83.42	gold quality
small intestine	UBERON:0002108	83.30	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-5061	yes	7580.36
E-MTAB-6911	yes	1042.89
E-MTAB-7052	yes	744.37
E-GEOD-81608	yes	170.85
E-ANND-3	no	4.08
E-CURD-112	no	2.27

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

103 targeting MBOAT1, 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-4795-3P	100.00	74.62	4024
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-3613-3P	100.00	76.36	7965
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-1305	99.91	71.43	3443

Literature-anchored findings (GeneRIF, showing 1)

• MBOAT1 homozygous missense variant causes nonobstructive azoospermia. (PMID:34596601)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	mboat1	ENSDARG00000029356
mus_musculus	Mboat1	ENSMUSG00000038732
rattus_norvegicus	Mboat1	ENSRNOG00000027125
drosophila_melanogaster	oys	FBGN0033476
caenorhabditis_elegans		WBGENE00007446
caenorhabditis_elegans		WBGENE00016934

Paralogs (5): PORCN (ENSG00000102312), LPCAT3 (ENSG00000111684), MBOAT7 (ENSG00000125505), MBOAT2 (ENSG00000143797), MBOAT4 (ENSG00000177669)

Protein

Protein identifiers

Membrane-bound glycerophospholipid O-acyltransferase 1 — Q6ZNC8 (reviewed: Q6ZNC8)

Alternative names: 1-acylglycerophosphocholine O-acyltransferase, 1-acylglycerophosphoethanolamine O-acyltransferase, 1-acylglycerophosphoserine O-acyltransferase, Lysophosphatidylserine acyltransferase, Lysophospholipid acyltransferase 1, Membrane-bound O-acyltransferase domain-containing protein 1

All UniProt accessions (1): Q6ZNC8

UniProt curated annotations — full annotation on UniProt →

Function. Acyltransferase which catalyzes the transfer of an acyl group from an acyl-CoA towards a lysophospholipid producing a phospholipid and participates in the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. Acts on lysophosphatidylserine (1-acyl-2-hydroxy-sn-glycero-3-phospho-L-serine or LPS) and lysophosphatidylethanolamine (1-acyl-sn-glycero-3-phosphoethanolamine or LPE), and to a lesser extend lysophosphatidylcholine. Prefers oleoyl-CoA as the acyl donor and 1-oleoyl-LPE as acceptor. May play a role in neurite outgrowth during neuronal differentiation.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Expressed in neutrophils.

Activity regulation. Partially inhibited by thimerosal.

Pathway. Lipid metabolism; phospholipid metabolism.

Similarity. Belongs to the membrane-bound acyltransferase family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q6ZNC8-1	1	yes
Q6ZNC8-2	2
Q6ZNC8-3	3

RefSeq proteins (1): NP_001073949* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004299	MBOAT_fam	Family
IPR049941	LPLAT_7/PORCN-like	Family

Pfam: PF03062

Catalyzed reactions (Rhea), 12 shown:

• a 1-acyl-sn-glycero-3-phosphocholine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphocholine + CoA (RHEA:12937)
• a 1-acyl-sn-glycero-3-phosphoethanolamine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphoethanolamine + CoA (RHEA:32995)
• a 1-acyl-sn-glycero-3-phospho-L-serine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phospho-L-serine + CoA (RHEA:33191)
• 1-hexadecanoyl-sn-glycero-3-phosphocholine + (9Z)-octadecenoyl-CoA = 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + CoA (RHEA:35991)
• 1-hexadecanoyl-sn-glycero-3-phosphoethanolamine + (9Z)-octadecenoyl-CoA = 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + CoA (RHEA:36015)
• 1-(9Z-octadecenoyl)-sn-glycero-3-phospho-L-serine + (9Z,12Z)-octadecadienoyl-CoA = 1-(9Z-octadecenoyl)-2-(9Z,12Z-octadienoyl)-sn-glycero-3-phospho-L-serine + CoA (RHEA:37375)
• 1-(9Z-octadecenoyl)-sn-glycero-3-phospho-L-serine + (9Z)-hexadecenoyl-CoA = 1-(9Z-octadecenoyl)-2-(9Z-hexadecenoyl)-sn-glycero-3-phospho-L-serine + CoA (RHEA:37399)
• 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-L-serine + (9Z)-octadecenoyl-CoA = 1,2-di-(9Z)-octadecenoyl-sn-glycero-3-phospho-L-serine + CoA (RHEA:37407)
• 1-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + (9Z)-octadecenoyl-CoA = 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + CoA (RHEA:37499)
• 1-octadecanoyl-sn-glycero-3-phosphoethanolamine + (9Z)-octadecenoyl-CoA = 1-octadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + CoA (RHEA:37523)
• a 1-O-(1Z-alkenyl)-sn-glycero-3-phosphoethanolamine + (9Z)-octadecenoyl-CoA = 1-O-(1Z)-alkenyl-2-(9Z)-octadecenoyl-sn-glycero-3-phosphoethanolamine + CoA (RHEA:37631)

UniProt features (20 total): transmembrane region 9, splice variant 3, sequence conflict 3, active site 2, chain 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZNC8-F1	89.63	0.82

Functional residue map

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

Catalytic / active sites (2): 350; 381

Post-translational modifications (1): 488

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-1482801	Acyl chain remodelling of PS
R-HSA-1482839	Acyl chain remodelling of PE
R-HSA-1430728	Metabolism
R-HSA-1483206	Glycerophospholipid biosynthesis
R-HSA-1483257	Phospholipid metabolism
R-HSA-556833	Metabolism of lipids

MSigDB gene sets: 197 (showing top): GSE45365_NK_CELL_VS_BCELL_UP, GOBP_PHOSPHATIDYLSERINE_ACYL_CHAIN_REMODELING, GOBP_LIPID_MODIFICATION, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLCHOLINE_METABOLIC_PROCESS, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_NEUROGENESIS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, BILD_E2F3_ONCOGENIC_SIGNATURE, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP

GO Biological Process (7): phospholipid biosynthetic process (GO:0008654), regulation of neuron projection development (GO:0010975), lipid modification (GO:0030258), phosphatidylserine acyl-chain remodeling (GO:0036150), phosphatidylethanolamine acyl-chain remodeling (GO:0036152), lipid metabolic process (GO:0006629), phospholipid metabolic process (GO:0006644)

GO Molecular Function (7): 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841), acyltransferase activity (GO:0016746), 2-acylglycerol-3-phosphate O-acyltransferase activity (GO:0047144), 1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184), 1-acylglycerophosphoethanolamine O-acyltransferase activity (GO:0106262), 1-acylglycerophosphoserine O-acyltransferase activity (GO:0106263), transferase activity (GO:0016740)

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

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Glycerophospholipid biosynthesis	2
Phospholipid metabolism	1
Metabolism of lipids	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
acyltransferase activity, transferring groups other than amino-acyl groups	3
lipid metabolic process	2
lysophosphatidic acid acyltransferase activity	2
phospholipid metabolic process	1
lipid biosynthetic process	1
organophosphate biosynthetic process	1
neuron projection development	1
regulation of plasma membrane bounded cell projection organization	1
phosphatidylserine metabolic process	1
phosphatidylcholine metabolic process	1
primary metabolic process	1
organophosphate metabolic process	1
acylglycerol O-acyltransferase activity	1
transferase activity	1
catalytic activity	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

2108 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MBOAT1	GRIFIN	A4D1Z8	521
MBOAT1	CDKAL1	Q5VV42	518
MBOAT1	LPCAT4	Q643R3	506
MBOAT1	ZBTB8B	Q8NAP8	475
MBOAT1	LPGAT1	Q92604	469
MBOAT1	AGPAT4	Q9NRZ5	463
MBOAT1	PNLIPRP1	P54315	460
MBOAT1	CHPT1	Q8WUD6	434
MBOAT1	CEPT1	Q9Y6K0	410
MBOAT1	PIP5KL1	Q5T9C9	405
MBOAT1	AGPAT1	Q99943	396
MBOAT1	FAM8A1	Q9UBU6	388
MBOAT1	LCLAT1	Q6UWP7	387
MBOAT1	GRHL1	Q9NZI5	383
MBOAT1	KLF11	O14901	366

IntAct

3 interactions, top by confidence:

A	B	Type	Score
MBOAT1	DERL1	psi-mi:“MI:0914”(association)	0.350
SLC30A7	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (34): ATP1A1 (Affinity Capture-MS), ATP2A2 (Affinity Capture-MS), ATP5A1 (Affinity Capture-MS), ATP5B (Affinity Capture-MS), CAV1 (Affinity Capture-MS), EMD (Affinity Capture-MS), NR3C1 (Affinity Capture-MS), HSPA4 (Affinity Capture-MS), TNPO1 (Affinity Capture-MS), SLC1A5 (Affinity Capture-MS), SLC3A2 (Affinity Capture-MS), TAP1 (Affinity Capture-MS), SLC39A7 (Affinity Capture-MS), SLC7A5 (Affinity Capture-MS), TECR (Affinity Capture-MS)

ESM2 similar proteins: A0A0P0WY03, A0A161IUT7, A7T1N0, A8WXS4, A8WZ09, G5ECD6, G5ED45, I1MSF2, K7LC65, O04940, O42579, O49639, O59802, O94673, P25628, P53629, P84285, Q08929, Q09758, Q0JJZ6, Q10269, Q19468, Q1PE48, Q22329, Q28GF5, Q3T1J2, Q4V7N7, Q55BH9, Q5GKZ7, Q5I396, Q5ZKL6, Q61086, Q6CK18, Q6ZNC8, Q6ZWT7, Q7Q5R9, Q7TSN4, Q7Z139, Q7Z7B1, Q876L3

Diamond homologs: O42916, Q08548, Q6ZNC8, Q3T1J2, Q5ZKL6, Q6NN55, Q6ZWT7, Q8BH98, Q8R3I2, Q91V01

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	66
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2714 predictions. Top by Δscore:

Variant	Effect	Δscore
6:20109591:AACTT:A	donor_loss	1.0000
6:20109592:ACTT:A	donor_loss	1.0000
6:20109593:CTT:C	donor_loss	1.0000
6:20109594:TTACT:T	donor_loss	1.0000
6:20109595:TA:T	donor_loss	1.0000
6:20109596:A:AC	donor_gain	1.0000
6:20109596:ACTTG:A	donor_loss	1.0000
6:20109597:C:CT	donor_gain	1.0000
6:20109597:C:T	donor_loss	1.0000
6:20109597:CT:C	donor_gain	1.0000
6:20109597:CTT:C	donor_gain	1.0000
6:20109750:C:CG	acceptor_loss	1.0000
6:20112870:ACTT:A	donor_loss	1.0000
6:20112871:CTTA:C	donor_loss	1.0000
6:20112872:TTACC:T	donor_loss	1.0000
6:20112873:TA:T	donor_loss	1.0000
6:20112874:A:AC	donor_gain	1.0000
6:20112874:ACCGC:A	donor_loss	1.0000
6:20112875:C:CC	donor_gain	1.0000
6:20112875:C:CT	donor_loss	1.0000
6:20112875:CCG:C	donor_gain	1.0000
6:20112875:CCGCT:C	donor_gain	1.0000
6:20113004:ACACA:A	acceptor_gain	1.0000
6:20113005:CACA:C	acceptor_gain	1.0000
6:20113005:CACAC:C	acceptor_gain	1.0000
6:20113007:CA:C	acceptor_gain	1.0000
6:20113007:CACTG:C	acceptor_loss	1.0000
6:20113009:C:CA	acceptor_loss	1.0000
6:20113009:C:CC	acceptor_gain	1.0000
6:20115287:CCA:C	donor_gain	1.0000

AlphaMissense

3239 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:20109636:A:C	F441L	0.998
6:20109636:A:T	F441L	0.998
6:20109638:A:G	F441L	0.998
6:20112944:G:C	H381D	0.998
6:20112947:A:G	W380R	0.998
6:20112947:A:T	W380R	0.998
6:20126670:A:C	S187R	0.998
6:20126670:A:T	S187R	0.998
6:20126672:T:G	S187R	0.998
6:20131190:C:A	M143I	0.998
6:20131190:C:G	M143I	0.998
6:20131190:C:T	M143I	0.998
6:20112940:C:A	G382V	0.997
6:20115298:A:G	W356R	0.997
6:20115298:A:T	W356R	0.997
6:20115314:A:C	N350K	0.997
6:20115314:A:T	N350K	0.997
6:20124417:A:G	W300R	0.997
6:20124417:A:T	W300R	0.997
6:20131191:A:G	M143T	0.997
6:20144265:C:G	R125P	0.997
6:20112912:G:C	F391L	0.996
6:20112912:G:T	F391L	0.996
6:20112914:A:G	F391L	0.996
6:20112928:C:T	G386E	0.996
6:20112941:C:G	G382R	0.996
6:20112945:C:A	W380C	0.996
6:20112945:C:G	W380C	0.996
6:20112952:G:T	A378D	0.996
6:20115319:A:G	W349R	0.996

dbSNP variants (sampled 300 via entrez): RS1000025750 (6:20153750 C>T), RS1000142428 (6:20149739 AT>A), RS1000182052 (6:20191029 C>A), RS1000184315 (6:20108199 G>A), RS1000204148 (6:20187794 C>A), RS1000211519 (6:20101745 C>T), RS1000236755 (6:20119821 A>G), RS1000242778 (6:20102087 C>T), RS1000314080 (6:20197630 C>G), RS1000336615 (6:20138717 T>C), RS1000341344 (6:20138151 G>A), RS1000346885 (6:20197966 C>G), RS1000363556 (6:20113714 C>G), RS1000396037 (6:20144885 A>T), RS1000476008 (6:20121568 C>T)

Disease associations

OMIM: gene MIM:611732 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST000635_19	Response to statin therapy	7.000000e-07
GCST001762_525	Obesity-related traits	2.000000e-06
GCST002324_3	Anger	4.000000e-06
GCST002599_5	Longevity (90 years and older)	8.000000e-06
GCST003773_6	Loneliness (multivariate analysis)	2.000000e-06
GCST004029_16	Angiotensin-converting enzyme inhibitor intolerance	4.000000e-08
GCST006466_2	Endometrial cancer (Non-endometrioid histology)	5.000000e-07
GCST009391_882	Metabolite levels	3.000000e-06
GCST010043_136	Asthma	4.000000e-08
GCST010242_72	HDL cholesterol levels	5.000000e-09
GCST010796_887	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0003015	aggressive behavior
EFO:0007865	loneliness measurement
EFO:0005325	response to angiotensin-converting enzyme inhibitor
EFO:0010439	triacylglycerol 58:12 measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004327	electrocardiography

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067162 (SINGLE PROTEIN)

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs10946364	MBOAT1		0.00	0

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.09	Kd	816.6	nM	CHEMBL3752910
6.05	ED50	900.1	nM	CHEMBL3752910

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149884: Binding affinity to human MBOAT1 incubated for 45 mins by Kinobead based pull down assay	kd	0.8166	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	6
trichostatin A	affects expression, increases expression	3
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
potassium chromate(VI)	affects cotreatment, decreases expression, increases expression	2
mercuric bromide	increases expression, affects cotreatment	2
chromium hexavalent ion	affects expression, decreases expression, increases abundance	2
entinostat	increases expression, affects cotreatment	2
(+)-JQ1 compound	decreases expression	2
Panobinostat	affects cotreatment, increases expression	2
Benzo(a)pyrene	decreases expression, increases expression	2
Estradiol	increases expression, affects binding, decreases reaction	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tretinoin	increases expression	2
Cyclosporine	increases expression	2
aristolochic acid I	decreases expression	1
urushiol	decreases expression	1
methylmercuric chloride	increases expression	1
zinc chromate	decreases expression, increases abundance	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
nickel sulfate	increases expression	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects cotreatment, decreases expression, affects response to substance	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases 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	1
ICG 001	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652926	Binding	Binding affinity to human MBOAT1 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E2BX	HAP1 MBOAT1 (-) 1	Cancer cell line	Male
CVCL_E2BY	HAP1 MBOAT1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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