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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
  • Lyso-PS Acyltransferase 3 4
  • LPLAT 1 3 4
  • LPSAT 3 4
  • OACT1 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. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. 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

Promoters for MBOAT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MBOAT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MBOAT1 Gene

Chromosome:
6
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

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

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:
REFSEQ proteins:

No data available for DME Specific Peptides for MBOAT1 Gene

Domains & Families for MBOAT1 Gene

Gene Families 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 :
  • 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 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

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

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for MBOAT1 Gene COMPARTMENTS Subcellular localization image for MBOAT1 gene
Compartment Confidence
endoplasmic reticulum 4
mitochondrion 2
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components 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.

Interacting Proteins for MBOAT1 Gene

Gene Ontology (GO) - Biological Process for MBOAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044281 small molecule metabolic process 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 Nutra 0
genes like me logo Genes that share compounds 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:

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 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, 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 expression patterns with MBOAT1: view

Protein tissue co-expression partners for MBOAT1 Gene

- Elite partner

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia MBOAT1 36
  • 99 (a)
OneToOne
MBOAT1 35
  • 99.09 (n)
  • 98.64 (a)
cow
(Bos Taurus)
Mammalia MBOAT1 36
  • 90 (a)
OneToOne
MBOAT1 35
  • 88.64 (n)
  • 90.35 (a)
dog
(Canis familiaris)
Mammalia MBOAT1 36
  • 78 (a)
OneToOne
MBOAT1 35
  • 90.28 (n)
  • 90.28 (a)
mouse
(Mus musculus)
Mammalia Mboat1 16
Mboat1 36
  • 84 (a)
OneToOne
Mboat1 35
  • 84.9 (n)
  • 83.47 (a)
oppossum
(Monodelphis domestica)
Mammalia MBOAT1 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MBOAT1 36
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mboat1 35
  • 84.83 (n)
  • 84.69 (a)
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 36
  • 56 (a)
OneToOne
mboat1 35
  • 61.87 (n)
  • 57 (a)
fruit fly
(Drosophila melanogaster)
Insecta oys 36
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mboa-5 36
  • 24 (a)
ManyToMany
mboa-4 36
  • 28 (a)
ManyToMany
mboa-3 36
  • 35 (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

(1) 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
rs2065649 - 20,109,611(+) GCTGA(C/T)GGTCG nc-transcript-variant, reference, missense
rs534477 -- 20,187,702(+) CAGGT(A/C)AAGAA intron-variant
rs536202 -- 20,187,870(+) GCCTG(C/T)AATCC intron-variant
rs595963 -- 20,175,491(-) ccagc(C/T)tgggc intron-variant
rs865226 -- 20,191,607(+) TATGG(A/C)CACCT 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

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)

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

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

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

Relevant External Links for MBOAT1

Genetic Association Database (GAD)
MBOAT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. 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 67
  2. GWAS of longevity in CHARGE consortium confirms APOE and FOXO3 candidacy. (PMID: 25199915) Broer L. … Murabito J.M. (J. Gerontol. A Biol. Sci. Med. Sci. 2015) 3
  3. Genome-wide association study of proneness to anger. (PMID: 24489884) Mick E. … Goldberg R.J. (PLoS ONE 2014) 3
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3
  5. Genome-wide association of lipid-lowering response to statins in combined study populations. (PMID: 20339536) Barber M.J. … Krauss R.M. (PLoS ONE 2010) 3

Products for MBOAT1 Gene

Sources for MBOAT1 Gene

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