MBOAT1

protein-coding

membrane bound O-acyltransferase domain containing 1, the group of Membrane bound O-acyltransferase family

Gene summary

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. [provided by RefSeq, Nov 2012]

Previous symbols:

OACT1

MANE transcript

NM_001080480.3

Inheritance

—

ClinVar variants

U:73B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.75

Max pathogenic AF

—

Genomic locus

chr6:20,099,684-20,212,469

External References & Databases

Ensembl (ENSG00000172197)

Transcript & Mutation Effects

hg38 • Region Span ~112.8 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MBOAT1 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 71

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001080480.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar	1 clinvar		4
missense			68 clinvar	5 clinvar		73
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	73	6	0	79

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 17 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001080480.3	RefSeq	NP_001073949.1	13	MANE Select
ENST00000324607.8	Ensembl	ENSP00000324944.7	13	MANE Select
ENST00000883939.1	Ensembl	ENSP00000553998.1	13	Standard
ENST00000883939.2	Ensembl	ENSP00000553998.1	13	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Glycerolipid metabolism - Homo sapiens (human)
Glycerophospholipid metabolism - Homo sapiens (human)
Regulation of Wnt-B-catenin Signaling by Small Molecule Compounds
Metabolism of lipids
Metabolism

Biological Process

phospholipid biosynthetic process
phosphatidylserine acyl-chain remodeling
phosphatidylethanolamine acyl-chain remodeling

Molecular Function

1-acylglycerol-3-phosphate O-acyltransferase activity
2-acylglycerol-3-phosphate O-acyltransferase activity

Cellular Component

endoplasmic reticulum membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000324607
Coding exons: 13
Length: 111736
Individuals with no LoFs: 125668
Homozygous LoFs: 0
Heterozygous LoFs: 79
Defined: 125747
p: 0.000314

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0336	274	272	1.01	0.0000140	3218
Missense (PolyPhen)		105	102.55	1.0239		1256
Synonymous	0.726	94	103	0.909	0.00000559	961
Loss of Function	1.24	22	29.2	0.753	0.00000160	327

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.00067	0.00067	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00032	0.00030	rare
South Asian	0.00044	0.00042	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Acyltransferase which mediates the conversion of lysophosphatidylserine (1-acyl-2-hydroxy-sn-glycero-3-phospho-L- serine or LPS) into phosphatidylserine (1,2-diacyl-sn-glycero-3- phospho-L-serine or PS) (LPSAT activity). Prefers oleoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. {ECO:0000269|PubMed:18772128}.;

Recessive Scores

pRec: 0.103

Intolerance Scores

LoFtool: 0.904
RVIS EVS: 0.0000761
RVIS percentile EVS: 53.98

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.231

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium