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Aliases for MBOAT1 Gene

Aliases for MBOAT1 Gene

  • Membrane Bound O-Acyltransferase Domain Containing 1 2 3
  • 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
  • Lyso-PS Acyltransferase 3 4
  • LPLAT 1 3 4
  • OACT1 3 4
  • LPSAT 3 4
  • Lysophospholipid Acyltransferase 1 3
  • EC 2.3.1.n6 4
  • DJ434O11.1 3
  • EC 2.3.1.- 4
  • LPEAT1 3
  • LPLAT 3
  • 1 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. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include transferase activity, transferring acyl groups other than amino-acyl groups. An important paralog of this gene is MBOAT7.

UniProtKB/Swiss-Prot 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MBOAT1 Gene

Genomics for MBOAT1 Gene

Regulatory Elements for MBOAT1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MBOAT1 Gene

Start:
20,099,684 bp from pter
End:
20,212,464 bp from pter
Size:
112,781 bases
Orientation:
Minus strand

Genomic View for MBOAT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for MBOAT1 Gene at MOPED

Post-translational modifications for MBOAT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MBOAT1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MBOAT1 Gene

Domains for MBOAT1 Gene

Protein Domains for MBOAT1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MBOAT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q6ZNC8

UniProtKB/Swiss-Prot:

MBOA1_HUMAN :
  • Q6ZNC8
Family:
  • Belongs to the membrane-bound acyltransferase family.
genes like me logo Genes that share domains with MBOAT1: view

No data available for Gene Families for MBOAT1 Gene

Function for MBOAT1 Gene

Molecular function for MBOAT1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Acyl-CoA + 1-acyl-sn-glycero-3-phosphatidylserine = CoA + 1,2-diacyl-sn-glycero-3-phosphatidylserine
UniProtKB/Swiss-Prot EnzymeRegulation:
Partially inhibited by thimerosal
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.

Enzyme Numbers (IUBMB) for MBOAT1 Gene

Gene Ontology (GO) - Molecular Function for MBOAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups IEA --
genes like me logo Genes that share ontologies with MBOAT1: view

Phenotypes for MBOAT1 Gene

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

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MBOAT1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for MBOAT1 Gene

Localization for MBOAT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MBOAT1 Gene

Membrane; Multi-pass membrane protein.

Gene Ontology (GO) - Cellular Components for MBOAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
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 COMPARTMENTS for MBOAT1 Gene

Pathways 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

Interacting Proteins for MBOAT1 Gene

Gene Ontology (GO) - Biological Process for MBOAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS --
GO:0036150 phosphatidylserine acyl-chain remodeling TAS --
GO:0036152 phosphatidylethanolamine acyl-chain remodeling TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0046474 glycerophospholipid biosynthetic process TAS --
genes like me logo Genes that share ontologies with MBOAT1: view

Transcripts for MBOAT1 Gene

mRNA/cDNA for MBOAT1 Gene

Unigene Clusters for MBOAT1 Gene

Membrane bound O-acyltransferase domain containing 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MBOAT1

Primer Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
MBOAT1

Expression for MBOAT1 Gene

mRNA expression in normal human tissues for MBOAT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues 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 from ProteomicsDB, PaxDb, MOPED, and MaxQB for MBOAT1 Gene

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.
genes like me logo Genes that share expressions with MBOAT1: view

Expression partners for MBOAT1 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia MBOAT1 35
  • 88.64 (n)
  • 90.35 (a)
MBOAT1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MBOAT1 35
  • 90.28 (n)
  • 90.28 (a)
MBOAT1 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mboat1 35
  • 84.9 (n)
  • 83.47 (a)
Mboat1 16
Mboat1 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MBOAT1 35
  • 99.09 (n)
  • 98.64 (a)
MBOAT1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mboat1 35
  • 84.83 (n)
  • 84.69 (a)
oppossum
(Monodelphis domestica)
Mammalia MBOAT1 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MBOAT1 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves MBOAT1 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MBOAT1 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mboat1 35
  • 66.18 (n)
  • 65 (a)
zebrafish
(Danio rerio)
Actinopterygii mboat1 35
  • 61.87 (n)
  • 57 (a)
mboat1 36
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta oys 36
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mboa-3 36
  • 35 (a)
ManyToMany
mboa-4 36
  • 28 (a)
ManyToMany
mboa-5 36
  • 24 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALE1 36
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10638 36
  • 29 (a)
OneToMany
Species with no ortholog for MBOAT1:
  • 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)

Paralogs for MBOAT1 Gene

Paralogs for MBOAT1 Gene

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

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

Variants for MBOAT1 Gene

Sequence variations from dbSNP and Humsavar for MBOAT1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs1708 -- 20,100,841(+) ATCAT(C/T)ATTAT utr-variant-3-prime, nc-transcript-variant
rs531825 -- 20,187,432(+) CATAC(A/G)GTGGG intron-variant
rs534477 -- 20,187,702(+) CAGGT(A/C)AAGAA intron-variant
rs536202 -- 20,187,870(+) GCCTG(C/T)AATCC intron-variant
rs552231 -- 20,184,504(+) GGTTC(C/T)GACTA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2731666 CNV Deletion 23290073
esv1010968 CNV Insertion 20482838
esv1703699 CNV Insertion 17803354
esv2675422 CNV Deletion 23128226
esv272083 CNV Insertion 20981092
nsv350077 CNV Loss 16902084

Relevant External Links for MBOAT1 Gene

HapMap Linkage Disequilibrium report
MBOAT1

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

Disorders for MBOAT1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for MBOAT1 Gene in MalaCards »

(1) Diseases for MBOAT1 Gene including...

Relevant External Links for MBOAT1

Genetic Association Database (GAD)
MBOAT1
genes like me logo Genes that share disorders with MBOAT1: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for MBOAT1 Gene

Publications for MBOAT1 Gene

  1. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  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. (J. Biol. Chem. 2007) 3 4
  5. Discovery of a lysophospholipid acyltransferase family essential for membrane asymmetry and diversity. (PMID: 18287005) Hishikawa D. … Shimizu T. (Proc. Natl. Acad. Sci. U.S.A. 2008) 2 3

Products for MBOAT1 Gene

Sources for MBOAT1 Gene

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