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MBOAT7 (membrane bound O-acyltransferase domain containing 7)

Identity

Alias (NCBI)BB1
LENG4
LPIAT
LPLAT
LRC4
MBOA7
MRT57
OACT7
hMBOA-7
HGNC (Hugo) MBOAT7
HGNC Alias symbBB1
hMBOA-7
LPLAT
HGNC Alias namelysophosphatidylinositol acyltransferase
 lysophospholipid acyltransferase 7
HGNC Previous nameLENG4
HGNC Previous nameleukocyte receptor cluster (LRC) member 4
LocusID (NCBI) 79143
Atlas_Id 41139
Location 19q13.42  [Link to chromosome band 19q13]
Location_base_pair Starts at 54173415 and ends at 54189580 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
EMC10 (19q13.33) / MBOAT7 (19q13.42)MBOAT7 (19q13.42) / MBOAT7 (19q13.42)SDSL (12q24.13) / MBOAT7 (19q13.42)
TMC4 (19q13.42) / MBOAT7 (19q13.42)TMEM259 (19p13.3) / MBOAT7 (19q13.42)C19orf63 MBOAT7 19q13.42
TMC4 19q13.42 / MBOAT7 19q13.42

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  EMC10/MBOAT7 (19q13)
TMC4/MBOAT7 (19q13)


External links

Nomenclature
HGNC (Hugo)MBOAT7   15505
Cards
Entrez_Gene (NCBI)MBOAT7  79143  membrane bound O-acyltransferase domain containing 7
AliasesBB1; LENG4; LPIAT; LPLAT; 
LRC4; MBOA7; MRT57; OACT7; hMBOA-7
GeneCards (Weizmann)MBOAT7
Ensembl hg19 (Hinxton)ENSG00000125505 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125505 [Gene_View]  ENSG00000125505 [Sequence]  chr19:54173415-54189580 [Contig_View]  MBOAT7 [Vega]
ICGC DataPortalENSG00000125505
TCGA cBioPortalMBOAT7
AceView (NCBI)MBOAT7
Genatlas (Paris)MBOAT7
WikiGenes79143
SOURCE (Princeton)MBOAT7
Genetics Home Reference (NIH)MBOAT7
Genomic and cartography
GoldenPath hg38 (UCSC)MBOAT7  -     chr19:54173415-54189580 -  19q13.42   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MBOAT7  -     19q13.42   [Description]    (hg19-Feb_2009)
GoldenPathMBOAT7 - 19q13.42 [CytoView hg19]  MBOAT7 - 19q13.42 [CytoView hg38]
ImmunoBaseENSG00000125505
genome Data Viewer NCBIMBOAT7 [Mapview hg19]  
OMIM606048   617188   
Gene and transcription
Genbank (Entrez)AF211969 AI032483 AK055908 AK122789 AK123290
RefSeq transcript (Entrez)NM_001146056 NM_001146082 NM_001146083 NM_024298
RefSeq genomic (Entrez)NC_000019 NG_033045 NT_187693 NW_003571054 NW_003571055 NW_003571056 NW_003571057 NW_003571058 NW_003571059 NW_003571060 NW_003571061
Consensus coding sequences : CCDS (NCBI)MBOAT7
Alternative Splicing GalleryENSG00000125505
Gene ExpressionMBOAT7 [ NCBI-GEO ]   MBOAT7 [ EBI - ARRAY_EXPRESS ]   MBOAT7 [ SEEK ]   MBOAT7 [ MEM ]
Gene Expression Viewer (FireBrowse)MBOAT7 [ Firebrowse - Broad ]
GenevisibleExpression of MBOAT7 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79143
GTEX Portal (Tissue expression)MBOAT7
Human Protein AtlasENSG00000125505-MBOAT7 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96N66   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96N66  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96N66
Splice isoforms : SwissVarQ96N66
PhosPhoSitePlusQ96N66
Domains : Interpro (EBI)MBOAT_fam   
Domain families : Pfam (Sanger)MBOAT (PF03062)   
Domain families : Pfam (NCBI)pfam03062   
Conserved Domain (NCBI)MBOAT7
DMDM Disease mutations79143
Blocks (Seattle)MBOAT7
SuperfamilyQ96N66
Human Protein Atlas [tissue]ENSG00000125505-MBOAT7 [tissue]
Peptide AtlasQ96N66
HPRD06925
IPIIPI00657706   IPI00885058   IPI00645667   IPI00170436   IPI00893265   IPI00880150   IPI00894258   IPI00925158   
Protein Interaction databases
DIP (DOE-UCLA)Q96N66
IntAct (EBI)Q96N66
FunCoupENSG00000125505
BioGRIDMBOAT7
STRING (EMBL)MBOAT7
ZODIACMBOAT7
Ontologies - Pathways
QuickGOQ96N66
Ontology : AmiGO1-acylglycerol-3-phosphate O-acyltransferase activity  protein binding  endoplasmic reticulum membrane  phosphatidylinositol biosynthetic process  membrane  membrane  integral component of membrane  transferase activity, transferring acyl groups  ventricular system development  layer formation in cerebral cortex  lipid modification  phosphatidylinositol acyl-chain remodeling  Mitochondria-associated ER Membrane  Mitochondria-associated ER Membrane  2-acylglycerol-3-phosphate O-acyltransferase activity  lysophospholipid acyltransferase activity  lysophospholipid acyltransferase activity  
Ontology : EGO-EBI1-acylglycerol-3-phosphate O-acyltransferase activity  protein binding  endoplasmic reticulum membrane  phosphatidylinositol biosynthetic process  membrane  membrane  integral component of membrane  transferase activity, transferring acyl groups  ventricular system development  layer formation in cerebral cortex  lipid modification  phosphatidylinositol acyl-chain remodeling  Mitochondria-associated ER Membrane  Mitochondria-associated ER Membrane  2-acylglycerol-3-phosphate O-acyltransferase activity  lysophospholipid acyltransferase activity  lysophospholipid acyltransferase activity  
Pathways : KEGGGlycerophospholipid metabolism   
NDEx NetworkMBOAT7
Atlas of Cancer Signalling NetworkMBOAT7
Wikipedia pathwaysMBOAT7
Orthology - Evolution
OrthoDB79143
GeneTree (enSembl)ENSG00000125505
Phylogenetic Trees/Animal Genes : TreeFamMBOAT7
HOGENOMQ96N66
Homologs : HomoloGeneMBOAT7
Homology/Alignments : Family Browser (UCSC)MBOAT7
Gene fusions - Rearrangements
Fusion : MitelmanEMC10/MBOAT7 [19q13.33/19q13.42]  
Fusion : MitelmanTMC4/MBOAT7 [19q13.42/19q13.42]  
Fusion PortalC19orf63 MBOAT7 19q13.42 BRCA
Fusion PortalTMC4 19q13.42 MBOAT7 19q13.42 BRCA
Fusion : QuiverMBOAT7
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMBOAT7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MBOAT7
dbVarMBOAT7
ClinVarMBOAT7
1000_GenomesMBOAT7 
Exome Variant ServerMBOAT7
GNOMAD BrowserENSG00000125505
Varsome BrowserMBOAT7
Genetic variants : HAPMAP79143
Genomic Variants (DGV)MBOAT7 [DGVbeta]
DECIPHERMBOAT7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMBOAT7 
Mutations
ICGC Data PortalMBOAT7 
TCGA Data PortalMBOAT7 
Broad Tumor PortalMBOAT7
OASIS PortalMBOAT7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMBOAT7  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMBOAT7
Mutations and Diseases : HGMDMBOAT7
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MBOAT7
DgiDB (Drug Gene Interaction Database)MBOAT7
DoCM (Curated mutations)MBOAT7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MBOAT7 (select a term)
intoGenMBOAT7
Cancer3DMBOAT7(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606048    617188   
Orphanet
DisGeNETMBOAT7
MedgenMBOAT7
Genetic Testing Registry MBOAT7
NextProtQ96N66 [Medical]
TSGene79143
GENETestsMBOAT7
Target ValidationMBOAT7
Huge Navigator MBOAT7 [HugePedia]
snp3D : Map Gene to Disease79143
BioCentury BCIQMBOAT7
ClinGenMBOAT7
Clinical trials, drugs, therapy
Protein Interactions : CTD79143
Pharm GKB GenePA162395057
Clinical trialMBOAT7
Miscellaneous
canSAR (ICR)MBOAT7 (select the gene name)
HarmonizomeMBOAT7
DataMed IndexMBOAT7
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMBOAT7
EVEXMBOAT7
GoPubMedMBOAT7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jul 16 15:22:25 CEST 2020

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