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MBOAT7 Gene

protein-coding   GIFtS: 52
GCID: GC19M054677

Membrane Bound O-Acyltransferase Domain Containing 7

(Previous name: leukocyte receptor cluster (LRC) member 4)
(Previous symbol: LENG4)
  Search for MBOAT7
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Membrane Bound O-Acyltransferase Domain Containing 71 2     LPLAT 72 3
LENG41 2 3 5     LRC42
Lysophosphatidylinositol Acyltransferase1 2 3     MBOA72
BB12 3 5     hMBOA-72
Leukocyte Receptor Cluster (LRC) Member 41 2     Lysophospholipid Acyltransferase 72
Bladder And Breast Carcinoma-Overexpressed Gene 1 Protein2 3     Malignant Cell Expression-Enhanced Gene/Tumor Progression-Enhanced2
Lyso-PI Acyltransferase2 3     EC 2.3.1.-3
1-Acylglycerophosphatidylinositol O-Acyltransferase2 3     EC 2.3.1.n43
LPIAT2 3     Leukocyte Receptor Cluster Member 43
OACT72 3     Membrane-Bound O-Acyltransferase Domain-Containing Protein 73
h-mboa-72 3     O-Acyltransferase Domain-Containing Protein 73

External Ids:    HGNC: 155051   Entrez Gene: 791432   Ensembl: ENSG000001255057   OMIM: 6060485   UniProtKB: Q96N663   

Export aliases for MBOAT7 gene to outside databases

Previous GC identifers: GC19M059374 GC19M050993


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include transferase activity, transferring acyl groups other than amino-acyl groups. An important paralog of this gene is LPCAT3.

UniProtKB/Swiss-Prot: MBOA7_HUMAN, Q96N66
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  NT_187693.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the MBOAT7 gene promoter:
         NRSF form 1   XBP-1   NRSF form 2   NF-AT   AREB6   NF-AT4   NF-AT2   NF-AT3   NF-AT1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMBOAT7 promoter sequence
   Search Chromatin IP Primers for MBOAT7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MBOAT7


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.4   Ensembl cytogenetic band:  19q13.42   HGNC cytogenetic band: 19q13.4

MBOAT7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MBOAT7 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M054677:  view genomic region     (about GC identifiers)

Start:
54,677,106 bp from pter      End:
54,693,733 bp from pter
Size:
16,628 bases      Orientation:
minus strand

Selected alternative locations (see all 8):
Chr19-,NW_003571060 148,190-164,846      Chr19-,NW_003571058 148,219-164,846      Chr19-,NW_003571056 148,219-164,846     
Chr19-,NW_003571054 148,184-164,679      Chr19-,NW_003571057 148,219-164,846      Chr19-,NW_003571055 148,219-164,846     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MBOA7_HUMAN, Q96N66 (See protein sequence)
Recommended Name: Lysophospholipid acyltransferase 7  
Size: 472 amino acids; 52765 Da
Sequence caution: Sequence=AAB37433.1; Type=Frameshift; Positions=63, 93, 144, 186;
Secondary accessions: A9C4B6 B0V3I5 B4DQ87 Q05DF0 Q7L5N2 Q99908 Q9BPV2 Q9BRE9
Alternative splicing: 3 isoforms:  Q96N66-1   Q96N66-2   Q96N66-3   

Explore the universe of human proteins at neXtProt for MBOAT7: NX_Q96N66

Explore proteomics data for MBOAT7 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys288, Lys456, Lys468
  • Glycosylation2 at Asn321
  • Modification sites at PhosphoSitePlus

  • See MBOAT7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001139528.1  NP_001139554.1  NP_001139555.1  NP_077274.3  

    ENSEMBL proteins: 
     ENSP00000404915   ENSP00000344377   ENSP00000245615   ENSP00000406794   ENSP00000375634  
     ENSP00000472209   ENSP00000388250   ENSP00000410320   ENSP00000410503  
    Reactome Protein details: Q96N66

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    Browse Sino Biological Cell Lysates
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    Search eBioscience for ELISAs for MBOAT7 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR004299 MBOAT_fam

    Graphical View of Domain Structure for InterPro Entry Q96N66

    ProtoNet protein and cluster: Q96N66

    1 Blocks protein domain: IPB004299 Membrane bound O-acyl transferase

    UniProtKB/Swiss-Prot: MBOA7_HUMAN, Q96N66
    Similarity: Belongs to the membrane-bound acyltransferase family


    Find genes that share domains with MBOAT7           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MBOA7_HUMAN, Q96N66
    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
    Catalytic activity: Acyl-CoA + 1-acyl-sn-glycero-3-phosphatidylinositol = CoA +
    1,2-diacyl-sn-glycero-3-phosphatidylinositol
    Catalytic activity: Acyl-[acyl-carrier-protein] + 1-acyl-sn-glycerol 3-phosphate = [acyl-carrier-protein] +
    1,2-diacyl-sn-glycerol 3-phosphate
    Enzyme regulation: Activity is inhibited by thimerosal

         Enzyme Numbers (IUBMB): EC 2.3.1.n41 EC 2.3.1.-1

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0016747transferase activity, transferring acyl groups other than amino-acyl groups IEA--
         
    Find genes that share ontologies with MBOAT7           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Mboat7):
     behavior/neurological  cellular  craniofacial  growth/size/body  homeostasis/metabolism 
     mortality/aging  nervous system  skeleton 

    Find genes that share phenotypes with MBOAT7           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for MBOAT7: Mboat7tm1Arai Mboat7tm1Lex

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    miRTarBase miRNAs that target MBOAT7:
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    2 qRT-PCR Assays for microRNAs that regulate MBOAT7:
    hsa-miR-24 hsa-miR-3153
    SwitchGear 3'UTR luciferase reporter plasmidMBOAT7 3' UTR sequence
    Inhib. RNA
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    Sino Biological Human cDNA Clone for MBOAT7
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MBOA7_HUMAN, Q96N66: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    plasma membrane3
    extracellular2
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with MBOAT7           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MBOAT7 About    
    See pathways by source

    SuperPathContained pathways About
    1Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis0.64
    Glycerophospholipid metabolism0.62
    Phospholipid metabolism0.64
    Acyl chain remodelling of PI0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37


    Find genes that share SuperPaths with MBOAT7           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for MBOAT7
        Acyl chain remodelling of PI


    1 Kegg Pathway  (Kegg details for MBOAT7):
        Glycerophospholipid metabolism

    UniProtKB/Swiss-Prot: MBOA7_HUMAN, Q96N66
    Pathway: Lipid metabolism; phospholipid metabolism

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MBOAT7
    Interactions:

        Search GeneGlobe Interaction Network for MBOAT7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for MBOAT7 (Q96N661, 2, 3 ENSP000002456154) via UniProtKB, MINT, STRING, and/or I2D (see all 22)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK6Q166592, 3MINT-8261406 I2D: score=2 
    TMEM173Q86WV61, 3, ENSP000003312884EBI-6116499,EBI-2800345 I2D: score=1 STRING: ENSP00000331288
    UNC93B1Q9H1C43, ENSP000002274714I2D: score=1 STRING: ENSP00000227471
    PLA2G16ENSP000003203374STRING: ENSP00000320337
    PLA2G4CENSP000003462284STRING: ENSP00000346228
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    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0021591ventricular system development IEA--
    GO:0036149phosphatidylinositol acyl-chain remodeling TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0046474glycerophospholipid biosynthetic process TAS--

    Find genes that share ontologies with MBOAT7           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MBOAT7 (MBOA7)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MBOAT7 gene (4 alternative transcripts): 
    NM_001146056.2  NM_001146082.2  NM_001146083.2  NM_024298.4  

    Unigene Cluster for MBOAT7:

    Membrane bound O-acyltransferase domain containing 7
    Hs.467279  [show with all ESTs]
    Unigene Representative Sequence: AK123290
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000437868 ENST00000338624(uc010yen.2) ENST00000245615(uc010erg.3 uc010yem.2 uc002qdq.3 uc002qdr.3)
    ENST00000494142 ENST00000449249 ENST00000391754(uc002qdt.4) ENST00000495279
    ENST00000414665 ENST00000453320 ENST00000464098 ENST00000474910 ENST00000491216
    ENST00000495968 ENST00000431666(uc002qds.3)
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    hsa-miR-24 hsa-miR-3153
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      QuantiFast Probe-based Assays in human, mouse, rat MBOAT7

    Additional mRNA sequence: 

    AF211969.1 AK055908.1 AK122789.1 AK123290.1 AK293199.1 AK298689.1 AK311493.1 BC002512.2 
    BC003164.1 BC006309.2 BC015857.1 EU016381.1 S82470.1 

    Selected DOTS entries (see all 38):

    DT.100823930  DT.98131738  DT.95148718  DT.91998922  DT.447876  DT.100823927  DT.40215814  DT.92449627 
    DT.121445212  DT.121445061  DT.121445223  DT.100823939  DT.121644091  DT.100823928  DT.100031277  DT.100823916 
    DT.121445076  DT.92449657  DT.121445293  DT.100767608  DT.102833076  DT.121445225  DT.100823920  DT.100823938 

    Selected AceView cDNA sequences (see all 500):

    BU179834 BM561123 BU931402 F13249 BM739030 BU557409 CR592172 CB241115 
    BU543079 AI955179 BM726423 BG396109 BM561223 BM784397 BM827770 AW249413 
    CB149478 BI757109 BM553418 BI909330 CR594504 BM739759 AI734199 BQ067440 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MBOAT7 (see all 9)    About this scheme

    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:                                                                                                                        


    ECgene alternative splicing isoforms for MBOAT7

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MBOAT7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTTCCATCT
    MBOAT7 Expression
    About this image


    MBOAT7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Testis (Reproductive System)
     
     Adrenal Gland (Endocrine System)
     
     Gall Bladder (Hepatobiliary System)
    MBOAT7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MBOAT7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.467279

    UniProtKB/Swiss-Prot: MBOA7_HUMAN, Q96N66
    Tissue specificity: Overexpressed in metastatic breast and bladder carcinomas relative to normal breast epithelium
    and urothelium

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBOAT7

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for MBOAT7 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mboat71 , 5 membrane bound O-acyltransferase domain containing more1, 5 89.12(n)1
    93.86(a)1
      7 (2.12 cM)5
    775821  NM_029934.31  NP_084210.21 
     36777905 
    lizard
    (Anolis carolinensis)
    Reptilia MBOAT76
    membrane bound O-acyltransferase domain containing...
    55(a)
    1 ↔ 1
    GL343279.1(1617918-1631496)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX708664.12   -- 79.46(n)    BX708664.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc660322 hypothetical protein MGC66032 79.14(n)   393509  BC056305.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta frj1 farjavit 48.5(n)
    34.14(a)
      33900  NM_135185.3  NP_609029.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mboa-71 mboa-7 42.94(n)
    30.51(a)
      181252  NM_077359.5  NP_509760.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALE16
    Broad-specificity lysophospholipid acyltransferase...
    16(a)
    1 → many
    XV(659815-661674) YOR175C


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MBOAT7 gene
    LPCAT32  MBOAT42  MBOAT12  MBOAT22  

    Find genes that share paralogs with MBOAT7           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MBOAT7 (see all 401)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1403336741,2
    C--54677530(+) ATACT-/TTGA  
            
    ATTTT
    21 -- ut310--------
    rs586940791,2
    C--54677532(+) ACTTT-/GATT  
            
    TTGTA
    21 -- ut311Minor allele frequency- GATT:0.00NA 2
    rs797113211,2
    C,F--54678963(+) CACCAC/TACCCG 3 -- int13Minor allele frequency- T:0.07WA 122
    rs1481231521,2
    --54678974(+) GGCAGC/GCCGGT 3 -- int10--------
    rs1180137501,2
    F--54678984(+) TGGTTC/TTTAAC 3 -- int11Minor allele frequency- T:0.01EA 120
    rs748148211,2
    C,F--54679165(+) CTGGCT/CCATGA 21 -- int11Minor allele frequency- C:0.08WA 118
    rs1428360801,2
    --54679181(+) CAGAAC/GTCCCT 3 -- int10--------
    rs1904977161,2
    --54679346(+) TCAAGC/TGATTC 3 -- int10--------
    rs1392691971,2
    --54679357(+) TTATGC/TCTCAG 3 -- int10--------
    rs81124801,2
    C,F,A,H--54679392(+) gcaagC/Tgccac 21 -- int17Minor allele frequency- T:0.11NA WA EA 250

    HapMap Linkage Disequilibrium report for MBOAT7 (54677106 - 54693733 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MBOAT7 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2658376CNV Deletion23128226
    esv2718812CNV Deletion23290073
    esv1201253CNV Deletion17803354
    nsv515623CNV Loss19592680
    nsv510774CNV Loss20534489
    nsv912398CNV Loss21882294
    nsv2546CNV Loss18451855
    dgv4002n71CNV Loss21882294
    dgv4001n71CNV Loss21882294
    nsv9751CNV Gain18304495

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MBOAT7
    DNA2.0 Custom Variant and Variant Library Synthesis for MBOAT7

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606048    OMIM disorders: --


    Find genes that share disorders with MBOAT7           About GenesLikeMe


    Export disorders for MBOAT7 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MBOAT7 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with MBOAT7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Caenorhabditis elegans mboa-7, a member of the MBOAT family, is required for selective incorporation of polyunsaturated fatty acids into phosphatidylinositol. (PubMed id 18094042)1, 2, 3 Lee H.C.... Arai H. (Mol. Biol. Cell 2008)
    2. Molecular analysis of a gene, BB1, overexpressed in bladder and breast carcinoma. (PubMed id 8702217)1, 2, 3 Fukunaga-Johnson N.... Grossman H.B. (Anticancer Res. 1996)
    3. Lysophospholipid acyltransferases and arachidonate recycling in human neutrophils. (PubMed id 18772128)1, 2 Gijon M.A.... Voelker D.R. (J. Biol. Chem. 2008)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Extensive gene duplications and a large inversion characterize the human leukocyte receptor cluster. (PubMed id 10941842)1, 3 Wende H.... Ziegler A. (Immunogenetics 2000)
    6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    7. Identification of small subunit of serine palmitoyltransferase a as a lysophosphatidylinositol acyltransferase 1-interacting protein. (PubMed id 23510452)1 Hirata Y....Arai H. (amp 2013)
    8. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    9. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
    10. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PubMed id 21903422)1 Li S.... Dorf M.E. (Immunity 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79143 HGNC: 15505 AceView: LENG4 Ensembl:ENSG00000125505 euGenes: HUgn79143
    ECgene: MBOAT7 Kegg: 79143 H-InvDB: MBOAT7

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MBOAT7 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MBOAT7 gene:
    Search GeneIP for patents involving MBOAT7

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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