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 d... See more...

Aliases for MBOAT1 Gene

Aliases for MBOAT1 Gene

  • Membrane Bound O-Acyltransferase Domain Containing 1 2 3 5
  • Membrane-Bound O-Acyltransferase Domain-Containing Protein 1 3 4
  • O-Acyltransferase (Membrane Bound) Domain Containing 1 2 3
  • Lysophosphatidylethanolamine Acyltransferase 1 2 3
  • O-Acyltransferase Domain-Containing Protein 1 3 4
  • 1-Acylglycerophosphoserine O-Acyltransferase 3 4
  • Lysophosphatidylserine Acyltransferase 3 4
  • Lysophospholipid Acyltransferase 1 3 4
  • Lyso-PS Acyltransferase 3 4
  • LPLAT 1 3 4
  • OACT1 3 4
  • LPSAT 3 4
  • EC 2.3.1.n6 4
  • DJ434O11.1 3
  • EC 2.3.1.- 4
  • LPEAT1 3
  • LPLAT 3

External Ids for MBOAT1 Gene

Previous HGNC Symbols for MBOAT1 Gene

  • OACT1

Previous GeneCards Identifiers for MBOAT1 Gene

  • GC06M020209

Summaries for MBOAT1 Gene

Entrez Gene Summary for MBOAT1 Gene

  • 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]

GeneCards Summary for MBOAT1 Gene

MBOAT1 (Membrane Bound O-Acyltransferase Domain Containing 1) is a Protein Coding gene. Diseases associated with MBOAT1 include Brachydactyly-Syndactyly Syndrome and Brachydactyly. Among its related pathways are Acyl chain remodelling of PE and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups other than amino-acyl groups. An important paralog of this gene is MBOAT2.

UniProtKB/Swiss-Prot Summary for MBOAT1 Gene

  • 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.

Additional gene information for MBOAT1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MBOAT1 Gene

Genomics for MBOAT1 Gene

GeneHancer (GH) Regulatory Elements for MBOAT1 Gene

Promoters and enhancers for MBOAT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J020200 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 511.7 +5.2 5234 13.5 HNRNPK ZBTB40 ZNF217 NRF1 USF1 GTF2E2 ZFX ZNF10 ZBTB5 EP300 MBOAT1 HE855971 E2F3 CDKAL1 ENSG00000227803 RF00017-5336
GH06J020400 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 -190.8 -190807 6.2 RXRA HNRNPK CTCF SIN3A NRF1 POLR2G USF1 SP1 NCOR1 GTF2E2 CDKAL1 E2F3 E2F3-IT1 lnc-MBOAT1-10 MBOAT1 RF00017-5336
GH06J020126 Enhancer 1 Ensembl ENCODE 19.3 +85.3 85318 1.3 ZNF217 CTCF ZSCAN5C ZIC2 TRIM28 REST TOE1 RAD21 CTBP1 TRIM22 MBOAT1 ENSG00000227803 L13714-387 FJ601678-049 RF00017-5336
GH06J020129 Enhancer 1 Ensembl ENCODE 19.4 +81.8 81784 1.8 KLF7 FOXA2 OSR2 BCL11A WT1 CREB1 ZBTB17 MAFF ZNF184 MAFK MBOAT1 ENSG00000227803 L13714-387 FJ601678-049 RF00017-5336
GH06J020181 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.3 +30.7 30668 4 USF1 ZNF10 MEF2C SIN3A WT1 CTCF NR3C1 GATA3 FOXA1 MYC ENSG00000227803 MBOAT1 FJ601678-049 HE855971 RF00017-5336
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MBOAT1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MBOAT1

Top Transcription factor binding sites by QIAGEN in the MBOAT1 gene promoter:
  • FOXO1
  • FOXO1a
  • FOXO4
  • MEF-2
  • MEF-2A
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • STAT3

Genomic Locations for MBOAT1 Gene

Genomic Locations for MBOAT1 Gene
chr6:20,099,684-20,212,469
(GRCh38/hg38)
Size:
112,786 bases
Orientation:
Minus strand
chr6:20,100,935-20,212,670
(GRCh37/hg19)
Size:
111,736 bases
Orientation:
Minus strand

Genomic View for MBOAT1 Gene

Genes around MBOAT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MBOAT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MBOAT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MBOAT1 Gene

Proteins for MBOAT1 Gene

  • Protein details for MBOAT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZNC8-MBOA1_HUMAN
    Recommended name:
    Lysophospholipid acyltransferase 1
    Protein Accession:
    Q6ZNC8
    Secondary Accessions:
    • A9EDQ5
    • B4DL59
    • B4E3J4
    • Q86XC2
    • Q8N9R5

    Protein attributes for MBOAT1 Gene

    Size:
    495 amino acids
    Molecular mass:
    56557 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MBOAT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MBOAT1 Gene

Post-translational modifications for MBOAT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MBOAT1 Gene

No data available for DME Specific Peptides for MBOAT1 Gene

Domains & Families for MBOAT1 Gene

Gene Families for MBOAT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for MBOAT1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MBOAT1 Gene

GenScript: Design optimal peptide antigens:
  • Membrane-bound O-acyltransferase domain-containing protein 1 (MBOA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZNC8

UniProtKB/Swiss-Prot:

MBOA1_HUMAN :
  • Belongs to the membrane-bound acyltransferase family.
Family:
  • Belongs to the membrane-bound acyltransferase family.
genes like me logo Genes that share domains with MBOAT1: view

Function for MBOAT1 Gene

Molecular function for MBOAT1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1-acyl-sn-glycero-3-phospho-L-serine + an acyl-CoA = 1,2-diacyl-sn-glycero-3-phospho-L-serine + CoA; Xref=Rhea:RHEA:33191, ChEBI:CHEBI:57262, ChEBI:CHEBI:57287, ChEBI:CHEBI:58342, ChEBI:CHEBI:64379; EC=2.3.1.n6;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Partially inhibited by thimerosal.

Enzyme Numbers (IUBMB) for MBOAT1 Gene

Phenotypes From GWAS Catalog for MBOAT1 Gene

Gene Ontology (GO) - Molecular Function for MBOAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
genes like me logo Genes that share ontologies with MBOAT1: view
genes like me logo Genes that share phenotypes with MBOAT1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MBOAT1

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MBOAT1 Gene

Localization for MBOAT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MBOAT1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MBOAT1 gene
Compartment Confidence
endoplasmic reticulum 4
mitochondrion 3
plasma membrane 1
extracellular 1
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for MBOAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MBOAT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MBOAT1 Gene

Pathways & Interactions for MBOAT1 Gene

genes like me logo Genes that share pathways with MBOAT1: view

UniProtKB/Swiss-Prot Q6ZNC8-MBOA1_HUMAN

  • Pathway: Lipid metabolism; phospholipid metabolism.

Gene Ontology (GO) - Biological Process for MBOAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006644 phospholipid metabolic process IEA --
GO:0008654 phospholipid biosynthetic process IEA --
GO:0036150 phosphatidylserine acyl-chain remodeling TAS --
GO:0036152 phosphatidylethanolamine acyl-chain remodeling TAS --
genes like me logo Genes that share ontologies with MBOAT1: view

No data available for SIGNOR curated interactions for MBOAT1 Gene

Drugs & Compounds for MBOAT1 Gene

(1) Drugs for MBOAT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Coenzyme A Investigational Nutra 0
genes like me logo Genes that share compounds with MBOAT1: view

Transcripts for MBOAT1 Gene

mRNA/cDNA for MBOAT1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MBOAT1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MBOAT1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17
SP1:
SP2: -
SP3: - - - -
SP4: - -
SP5: -
SP6:

Relevant External Links for MBOAT1 Gene

GeneLoc Exon Structure for
MBOAT1

Expression for MBOAT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MBOAT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MBOAT1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (29.7), Monocytes (26.4), and Lung (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MBOAT1 Gene



Protein tissue co-expression partners for MBOAT1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MBOAT1

SOURCE GeneReport for Unigene cluster for MBOAT1 Gene:

Hs.377830

mRNA Expression by UniProt/SwissProt for MBOAT1 Gene:

Q6ZNC8-MBOA1_HUMAN
Tissue specificity: Expressed in neutrophils.

Evidence on tissue expression from TISSUES for MBOAT1 Gene

  • Nervous system(4.9)
  • Liver(3.3)
  • Lung(3)
  • Intestine(2.9)
  • Kidney(2.9)
genes like me logo Genes that share expression patterns with MBOAT1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MBOAT1 Gene

Orthologs for MBOAT1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MBOAT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MBOAT1 31 30
  • 99.09 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MBOAT1 31 30
  • 90.28 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MBOAT1 31 30
  • 88.64 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mboat1 17 31 30
  • 84.9 (n)
rat
(Rattus norvegicus)
Mammalia Mboat1 30
  • 84.83 (n)
oppossum
(Monodelphis domestica)
Mammalia MBOAT1 31
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MBOAT1 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves MBOAT1 31
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MBOAT1 31
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mboat1 30
  • 66.18 (n)
zebrafish
(Danio rerio)
Actinopterygii mboat1 31 30
  • 61.87 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta oys 31
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mboa-3 31
  • 35 (a)
ManyToMany
mboa-4 31
  • 28 (a)
ManyToMany
mboa-5 31
  • 24 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALE1 31
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10638 31
  • 29 (a)
OneToMany
Species where no ortholog for MBOAT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MBOAT1 Gene

ENSEMBL:
Gene Tree for MBOAT1 (if available)
TreeFam:
Gene Tree for MBOAT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MBOAT1: view image

Paralogs for MBOAT1 Gene

Paralogs for MBOAT1 Gene

(1) SIMAP similar genes for MBOAT1 Gene using alignment to 1 proteins:

  • MBOA1_HUMAN
genes like me logo Genes that share paralogs with MBOAT1: view

Variants for MBOAT1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MBOAT1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs2065649 - p.Ile450Val

Additional dbSNP identifiers (rs#s) for MBOAT1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MBOAT1 Gene

Variant ID Type Subtype PubMed ID
dgv5923n100 CNV gain 25217958
esv1010968 CNV insertion 20482838
esv1703699 CNV insertion 17803354
esv2675422 CNV deletion 23128226
esv2731666 CNV deletion 23290073
esv3307809 CNV mobile element insertion 20981092
esv3374825 CNV insertion 20981092
esv3608287 CNV loss 21293372
nsv1032899 CNV loss 25217958
nsv1033904 CNV loss 25217958
nsv1117606 CNV deletion 24896259
nsv1120519 CNV tandem duplication 24896259
nsv350077 CNV deletion 16902084

Variation tolerance for MBOAT1 Gene

Residual Variation Intolerance Score: 61.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.94; 74.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MBOAT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MBOAT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MBOAT1 Gene

Disorders for MBOAT1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MBOAT1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
brachydactyly-syndactyly syndrome
  • bdsd
brachydactyly
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MBOAT1

genes like me logo Genes that share disorders with MBOAT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MBOAT1 Gene

Publications for MBOAT1 Gene

  1. Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. (PMID: 18821565) Lasky-Su J … Faraone SV (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 41 54
  2. Lysophospholipid acyltransferases and arachidonate recycling in human neutrophils. (PMID: 18772128) Gijón MA … Voelker DR (The Journal of biological chemistry 2008) 3 4 54
  3. Discovery of a lysophospholipid acyltransferase family essential for membrane asymmetry and diversity. (PMID: 18287005) Hishikawa D … Shimizu T (Proceedings of the National Academy of Sciences of the United States of America 2008) 2 3 54
  4. LPT1 encodes a membrane-bound O-acyltransferase involved in the acylation of lysophospholipids in the yeast Saccharomyces cerevisiae. (PMID: 17890783) Tamaki H … Kumagai H (The Journal of biological chemistry 2007) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for MBOAT1 Gene

Sources for MBOAT1 Gene