MBOAT1 membrane bound O-acyltransferase domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MBOAT1provided by HGNC
Official Full Name: membrane bound O-acyltransferase domain containing 1provided by HGNC
Primary source: HGNC:HGNC:21579
See related: Ensembl:ENSG00000172197 MIM:611732; AllianceGenome:HGNC:21579
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LPLAT; LPSAT; OACT1; LPEAT1; LPLAT 1; LPLAT14; dJ434O11.1
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]
Expression: Ubiquitous expression in colon (RPKM 8.3), small intestine (RPKM 8.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p22.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (20099684..20212469, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (19971772..20084669, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (20099915..20212700, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MBOAT1 homozygous missense variant causes nonobstructive azoospermia.
Title: MBOAT1 homozygous missense variant causes nonobstructive azoospermia.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association of lipid-lowering response to statins in combined study populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of proneness to anger. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of Longevity in CHARGE Consortium Confirms APOE and FOXO3 Candidacy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48125 (e-PCR)
- UniSTS:86033

PMC156606P1 (e-PCR)
- UniSTS:271408

PMC156606P2 (e-PCR)
- UniSTS:271409

PMC156606P3 (e-PCR)
- UniSTS:271410

D8S2278 (e-PCR)
- UniSTS:473906

PMC156606P4 (e-PCR)
- UniSTS:271411

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

G67630 (e-PCR)
- UniSTS:224128

D11S3114 (e-PCR)
- UniSTS:152207

D6S488 (e-PCR)
- UniSTS:148649

STS-D29509 (e-PCR)
- UniSTS:3503

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 1-acylglycerol-3-phosphate O-acyltransferase activity	TAS Traceable Author Statement more info
enables 1-acylglycerophosphocholine O-acyltransferase activity	IEA Inferred from Electronic Annotation more info
enables 1-acylglycerophosphoethanolamine O-acyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables 1-acylglycerophosphoserine O-acyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables 2-acylglycerol-3-phosphate O-acyltransferase activity	TAS Traceable Author Statement more info
enables acyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in lipid modification	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylethanolamine acyl-chain remodeling	ISS Inferred from Sequence or Structural Similarity more info
involved_in phosphatidylethanolamine acyl-chain remodeling	TAS Traceable Author Statement more info
involved_in phosphatidylserine acyl-chain remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidylserine acyl-chain remodeling	TAS Traceable Author Statement more info
involved_in phospholipid biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neuron projection development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: lysophospholipid acyltransferase 1

Names: 1-acylglycerophosphocholine O-acyltransferase; 1-acylglycerophosphoethanolamine O-acyltransferase; 1-acylglycerophosphoserine O-acyltransferase; 1-acylglycerophosphoserine O-acyltransferase MBOAT1; O-acyltransferase (membrane bound) domain containing 1; O-acyltransferase domain-containing protein 1; lyso-PS acyltransferase; lysophosphatidylethanolamine acyltransferase 1; lysophosphatidylserine acyltransferase; lysophospholipid acyltransferase 14; membrane-bound O-acyltransferase domain-containing protein 1

NP_001073949.1

EC 2.3.1.23

EC 2.3.1.n6

EC 2.3.1.n7

XP_006715062.1

EC 2.3.1.23

EC 2.3.1.n6

EC 2.3.1.n7

XP_006715063.1

EC 2.3.1.23

EC 2.3.1.n6

EC 2.3.1.n7

XP_011512615.1

EC 2.3.1.23

EC 2.3.1.n6

EC 2.3.1.n7

XP_054210328.1

EC 2.3.1.23

EC 2.3.1.n6

EC 2.3.1.n7

XP_054210329.1

EC 2.3.1.23

EC 2.3.1.n6

EC 2.3.1.n7

XP_054210330.1

EC 2.3.1.23

EC 2.3.1.n6

EC 2.3.1.n7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001080480.3 → NP_001073949.1 lysophospholipid acyltransferase 1

See identical proteins and their annotated locations for NP_001073949.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the supported protein.

Source sequence(s)

AK296857, AL008627, AL158198, BC150650, BM978819

Consensus CDS

CCDS34346.1

UniProtKB/Swiss-Prot

A9EDQ5, B4DL59, B4E3J4, Q6ZNC8, Q86XC2, Q8N9R5

Related

ENSP00000324944.7, ENST00000324607.8

Conserved Domains (1) summary

cl00738
Location:22 → 458

MBOAT; MBOAT, membrane-bound O-acyltransferase family

RNA

NR_073465.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks three exons compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK296857, AL008627, AL158198, BC150652, BM978819

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

20099684..20212469 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006714999.3 → XP_006715062.1 lysophospholipid acyltransferase 1 isoform X1

See identical proteins and their annotated locations for XP_006715062.1

Conserved Domains (1) summary

cl00738
Location:2 → 426

MBOAT; MBOAT, membrane-bound O-acyltransferase family
XM_011514313.4 → XP_011512615.1 lysophospholipid acyltransferase 1 isoform X3

See identical proteins and their annotated locations for XP_011512615.1

UniProtKB/Swiss-Prot

Q6ZNC8

Conserved Domains (1) summary

cl00738
Location:22 → 240

MBOAT; MBOAT, membrane-bound O-acyltransferase family
XM_006715000.5 → XP_006715063.1 lysophospholipid acyltransferase 1 isoform X2

Conserved Domains (1) summary

cl00738
Location:22 → 235

MBOAT; MBOAT, membrane-bound O-acyltransferase family