Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MBOAT7 Gene

Aliases for MBOAT7 Gene

  • Membrane Bound O-Acyltransferase Domain Containing 7 2 3 5
  • Lysophosphatidylinositol Acyltransferase 2 3 4
  • Bladder And Breast Carcinoma-Overexpressed Gene 1 Protein 3 4
  • 1-Acylglycerophosphatidylinositol O-Acyltransferase 3 4
  • Leukocyte Receptor Cluster (LRC) Member 4 2 3
  • Lyso-PI Acyltransferase 3 4
  • H-Mboa-7 3 4
  • LPLAT 7 3 4
  • LENG4 3 4
  • LPIAT 3 4
  • OACT7 3 4
  • BB1 3 4
  • Malignant Cell Expression-Enhanced Gene/Tumor Progression-Enhanced 3
  • Membrane-Bound O-Acyltransferase Domain-Containing Protein 7 4
  • O-Acyltransferase Domain-Containing Protein 7 4
  • Leukocyte Receptor Cluster Member 4 4
  • Lysophospholipid Acyltransferase 7 3
  • EC 2.3.1.n4 4
  • EC 2.3.1.- 4
  • HMBOA-7 3
  • MBOA7 3
  • MRT57 3
  • LRC4 3

External Ids for MBOAT7 Gene

Previous HGNC Symbols for MBOAT7 Gene

  • LENG4

Previous GeneCards Identifiers for MBOAT7 Gene

  • GC19M059374
  • GC19M054677
  • GC19M050993

Summaries for MBOAT7 Gene

Entrez Gene Summary for MBOAT7 Gene

  • This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

GeneCards Summary for MBOAT7 Gene

MBOAT7 (Membrane Bound O-Acyltransferase Domain Containing 7) is a Protein Coding gene. Diseases associated with MBOAT7 include Autosomal Recessive Non-Syndromic Intellectual Disability. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. GO annotations related to this gene include lysophospholipid acyltransferase activity. An important paralog of this gene is MBOAT2.

UniProtKB/Swiss-Prot for MBOAT7 Gene

  • Acyltransferase which mediates the conversion of lysophosphatidylinositol (1-acylglycerophosphatidylinositol or LPI) into phosphatidylinositol (1,2-diacyl-sn-glycero-3-phosphoinositol or PI) (LPIAT activity). Prefers arachidonoyl-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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MBOAT7 Gene

Genomics for MBOAT7 Gene

Regulatory Elements for MBOAT7 Gene

Enhancers for MBOAT7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G054199 1.9 FANTOM5 ENCODE dbSUPER 9.3 -15.8 -15829 12.1 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 LILRB5 RPS9 PRPF31 LILRB3 LILRA6 LILRA2 LILRA4 VSTM1 LILRA5 ENSG00000249189
GH19G053864 1.8 FANTOM5 ENCODE dbSUPER 2.6 +321.0 320968 9.8 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 ZNF845 ZNF765 ZNF816 ENSG00000269001 ENSG00000235681 ZNF813 TPM3P6 LENG8-AS1 MYADM ZNF525
GH19G054018 1.6 FANTOM5 Ensembl ENCODE 1.9 +168.8 168765 6.8 PKNOX1 FOXA2 ATF1 CREB3L1 ARID4B SIN3A TCF12 GTF3C2 ZNF302 GATA2 LILRB3 ZNF845 ZNF525 ENSG00000235681 ENSG00000267265 LENG8-AS1 ZNF765 PRPF31 VSTM1 LILRA5
GH19G053851 1.3 FANTOM5 Ensembl ENCODE 1.4 +338.0 338042 1.1 PTBP1 NFIA MIER1 NFIB BHLHE40 MAX EP300 NFIC PRDM4 MYC ENSG00000232220 PRKCG MIR935 CACNG6 MYADM VSTM1 LILRA5 OSCAR NLRP12 LILRB2
GH19G054186 1.4 ENCODE dbSUPER 0.7 +0.3 261 6.8 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 PRPF31 ZNF845 LENG8-AS1 ZNF525 ENSG00000235681 LILRB3 LILRA6 ENSG00000249189 LILRB5 ZNF677
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MBOAT7 on UCSC Golden Path with GeneCards custom track

Promoters for MBOAT7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000111468 -318 3601 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for MBOAT7 Gene

Chromosome:
19
Start:
54,173,412 bp from pter
End:
54,189,882 bp from pter
Size:
16,471 bases
Orientation:
Minus strand

Genomic View for MBOAT7 Gene

Genes around MBOAT7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MBOAT7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MBOAT7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MBOAT7 Gene

Proteins for MBOAT7 Gene

  • Protein details for MBOAT7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96N66-MBOA7_HUMAN
    Recommended name:
    Lysophospholipid acyltransferase 7
    Protein Accession:
    Q96N66
    Secondary Accessions:
    • A9C4B6
    • B0V3I5
    • B4DQ87
    • Q05DF0
    • Q7L5N2
    • Q99908
    • Q9BPV2
    • Q9BRE9

    Protein attributes for MBOAT7 Gene

    Size:
    472 amino acids
    Molecular mass:
    52765 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB37433.1; Type=Frameshift; Positions=63, 93, 144, 186; Evidence={ECO:0000305};

    Alternative splice isoforms for MBOAT7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MBOAT7 Gene

Post-translational modifications for MBOAT7 Gene

  • Ubiquitination at Lys468
  • Glycosylation at posLast=321321
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MBOAT7 Gene

Domains & Families for MBOAT7 Gene

Gene Families for MBOAT7 Gene

Protein Domains for MBOAT7 Gene

Suggested Antigen Peptide Sequences for MBOAT7 Gene

Graphical View of Domain Structure for InterPro Entry

Q96N66

UniProtKB/Swiss-Prot:

MBOA7_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 MBOAT7: view

Function for MBOAT7 Gene

Molecular function for MBOAT7 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Acyl-CoA + 1-acyl-sn-glycero-3-phosphatidylinositol = CoA + 1,2-diacyl-sn-glycero-3-phosphatidylinositol.
UniProtKB/Swiss-Prot CatalyticActivity:
Acyl-[acyl-carrier-protein] + 1-acyl-sn-glycerol 3-phosphate = [acyl-carrier-protein] + 1,2-diacyl-sn-glycerol 3-phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activity is inhibited by thimerosal.
UniProtKB/Swiss-Prot Function:
Acyltransferase which mediates the conversion of lysophosphatidylinositol (1-acylglycerophosphatidylinositol or LPI) into phosphatidylinositol (1,2-diacyl-sn-glycero-3-phosphoinositol or PI) (LPIAT activity). Prefers arachidonoyl-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 MBOAT7 Gene

Gene Ontology (GO) - Molecular Function for MBOAT7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity TAS --
GO:0005515 protein binding IPI 21903422
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0047144 2-acylglycerol-3-phosphate O-acyltransferase activity TAS --
genes like me logo Genes that share ontologies with MBOAT7: view
genes like me logo Genes that share phenotypes with MBOAT7: view

Animal Models for MBOAT7 Gene

MGI Knock Outs for MBOAT7:

Animal Model Products

  • Taconic Biosciences Mouse Models for MBOAT7

miRNA for MBOAT7 Gene

miRTarBase miRNAs that target MBOAT7

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MBOAT7 Gene

Localization for MBOAT7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MBOAT7 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 MBOAT7 gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
extracellular 2

Gene Ontology (GO) - Cellular Components for MBOAT7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MBOAT7: view

Pathways & Interactions for MBOAT7 Gene

genes like me logo Genes that share pathways with MBOAT7: view

Pathways by source for MBOAT7 Gene

UniProtKB/Swiss-Prot Q96N66-MBOA7_HUMAN

  • Pathway: Lipid metabolism; phospholipid metabolism.

Gene Ontology (GO) - Biological Process for MBOAT7 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:0021591 ventricular system development IEA --
GO:0021819 layer formation in cerebral cortex IEA,ISS --
genes like me logo Genes that share ontologies with MBOAT7: view

No data available for SIGNOR curated interactions for MBOAT7 Gene

Drugs & Compounds for MBOAT7 Gene

(1) Drugs for MBOAT7 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 MBOAT7: view

Transcripts for MBOAT7 Gene

Unigene Clusters for MBOAT7 Gene

Membrane bound O-acyltransferase domain containing 7:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MBOAT7 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b · 10c ^ 11
SP1: - -
SP2: - -
SP3: -
SP4: - - - - -
SP5:
SP6: - -
SP7: - - -
SP8: - -
SP9: -

Relevant External Links for MBOAT7 Gene

GeneLoc Exon Structure for
MBOAT7
ECgene alternative splicing isoforms for
MBOAT7

Expression for MBOAT7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MBOAT7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MBOAT7 Gene

This gene is overexpressed in Whole Blood (x15.2).

Protein differential expression in normal tissues from HIPED for MBOAT7 Gene

This gene is overexpressed in Nasal epithelium (13.2) and Fetal testis (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MBOAT7 Gene



Protein tissue co-expression partners for MBOAT7 Gene

NURSA nuclear receptor signaling pathways regulating expression of MBOAT7 Gene:

MBOAT7

SOURCE GeneReport for Unigene cluster for MBOAT7 Gene:

Hs.467279

mRNA Expression by UniProt/SwissProt for MBOAT7 Gene:

Q96N66-MBOA7_HUMAN
Tissue specificity: Overexpressed in metastatic breast and bladder carcinomas relative to normal breast epithelium and urothelium.

Evidence on tissue expression from TISSUES for MBOAT7 Gene

  • Nervous system(4.8)
  • Kidney(4.6)
  • Lung(4.6)
  • Intestine(4.4)
  • Muscle(4.2)
  • Blood(3.5)
  • Skin(2.7)
  • Pancreas(2.2)
  • Liver(2)
genes like me logo Genes that share expression patterns with MBOAT7: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MBOAT7 Gene

Orthologs for MBOAT7 Gene

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

Orthologs for MBOAT7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MBOAT7 34 35
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia MBOAT7 34 35
  • 91.81 (n)
cow
(Bos Taurus)
Mammalia MBOAT7 34 35
  • 91.74 (n)
rat
(Rattus norvegicus)
Mammalia Mboat7 34
  • 89.48 (n)
mouse
(Mus musculus)
Mammalia Mboat7 34 16 35
  • 89.12 (n)
oppossum
(Monodelphis domestica)
Mammalia MBOAT7 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 76 (a)
OneToMany
-- 35
  • 65 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia MBOAT7 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mboat7 34
  • 62.14 (n)
zebrafish
(Danio rerio)
Actinopterygii mboat7 34 35
  • 59.52 (n)
zgc66032 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009259 34
  • 50.4 (n)
fruit fly
(Drosophila melanogaster)
Insecta frj 34 35
  • 48.5 (n)
worm
(Caenorhabditis elegans)
Secernentea mboa-7 34 35
  • 42.94 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALE1 35
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 27 (a)
OneToOne
Species where no ortholog for MBOAT7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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 MBOAT7 Gene

ENSEMBL:
Gene Tree for MBOAT7 (if available)
TreeFam:
Gene Tree for MBOAT7 (if available)

Paralogs for MBOAT7 Gene

Paralogs for MBOAT7 Gene

genes like me logo Genes that share paralogs with MBOAT7: view

Variants for MBOAT7 Gene

Sequence variations from dbSNP and Humsavar for MBOAT7 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1037053723 -- 54,184,162(+) CTCTC(-/TTTT)TTTTT intron-variant
rs17855385 --
rs34483717 -- 54,174,975(+) AGTGG(-/T)TTTTT intron-variant, upstream-variant-2KB
rs35909464 --
rs796743578 -- 54,184,162(+) CTCTT(CTC/T)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MBOAT7 Gene

Variant ID Type Subtype PubMed ID
esv2658376 CNV deletion 23128226
esv2718812 CNV deletion 23290073
esv2758771 CNV gain+loss 17122850
nsv1066425 CNV gain 25217958
nsv2546 CNV deletion 18451855
nsv428371 CNV gain+loss 18775914
nsv510774 CNV deletion 20534489
nsv515623 CNV loss 19592680
nsv953613 CNV deletion 24416366
nsv9751 CNV gain 18304495

Variation tolerance for MBOAT7 Gene

Residual Variation Intolerance Score: 30.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.84; 34.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MBOAT7 Gene

Human Gene Mutation Database (HGMD)
MBOAT7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MBOAT7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MBOAT7 Gene

Disorders for MBOAT7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MBOAT7 Gene - From: Orphanet and GeneCards

Disorder Aliases PubMed IDs
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MBOAT7

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MBOAT7
genes like me logo Genes that share disorders with MBOAT7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MBOAT7 Gene

Publications for MBOAT7 Gene

  1. Caenorhabditis elegans mboa-7, a member of the MBOAT family, is required for selective incorporation of polyunsaturated fatty acids into phosphatidylinositol. (PMID: 18094042) Lee H.C. … Arai H. (Mol. Biol. Cell 2008) 2 3 4 64
  2. Molecular analysis of a gene, BB1, overexpressed in bladder and breast carcinoma. (PMID: 8702217) Fukunaga-Johnson N. … Grossman H.B. (Anticancer Res. 1996) 2 3 4 64
  3. Lysophospholipid acyltransferases and arachidonate recycling in human neutrophils. (PMID: 18772128) Gijon M.A. … Voelker D.R. (J. Biol. Chem. 2008) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Extensive gene duplications and a large inversion characterize the human leukocyte receptor cluster. (PMID: 10941842) Wende H. … Ziegler A. (Immunogenetics 2000) 2 3 64

Products for MBOAT7 Gene

Sources for MBOAT7 Gene

Content
Loading form....