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MBOAT4 Gene

protein-coding   GIFtS: 39
GCID: GC08M029989

Membrane Bound O-Acyltransferase Domain Containing 4

(Previous name: O-acyltransferase (membrane bound) domain containing 4)
(Previous symbol: OACT4)
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(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 41 2     Ghrelin O-Acyltransferase1 2
OACT41 2 3     Membrane-Bound O-Acyltransferase Domain-Containing Protein 42 3
GOAT2 3 5     O-Acyltransferase Domain-Containing Protein 42 3
O-Acyltransferase (Membrane Bound) Domain Containing 41 2     EC 2.3.1.-3

External Ids:    HGNC: 323111   Entrez Gene: 6193732   Ensembl: ENSG000001776697   OMIM: 6119405   UniProtKB: Q96T533   

Export aliases for MBOAT4 gene to outside databases

Previous GC identifers: GC08M030108 GC08M028533


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MBOAT4 Gene:
MBOAT4 (membrane bound O-acyltransferase domain containing 4) is a protein-coding gene. GO annotations related to this gene include serine O-acyltransferase activity. An important paralog of this gene is LPCAT3.

UniProtKB/Swiss-Prot: MBOA4_HUMAN, Q96T53
Function: Mediates the octanoylation of ghrelin at 'Ser-3'. Can use a variety of fatty acids as substrates
including octanoic acid, decanoic acid and tetradecanoic acid




(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_000008.10  NC_018919.2  NT_167187.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MBOAT4 gene promoter:
         c-Fos   AP-1   JunB   Lmo2   Fra-1   FosB   GATA-6   FOXC1   JunD   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MBOAT4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MBOAT4


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

Entrez Gene cytogenetic band: 8p12   Ensembl cytogenetic band:  8p12   HGNC cytogenetic band: 8p12

MBOAT4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MBOAT4 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M029989:  view genomic region     (about GC identifiers)

Start:
29,989,187 bp from pter      End:
30,002,202 bp from pter
Size:
13,016 bases      Orientation:
minus strand

(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: MBOA4_HUMAN, Q96T53 (See protein sequence)
Recommended Name: Ghrelin O-acyltransferase  
Size: 435 amino acids; 49716 Da
Secondary accessions: B1Q003
Alternative splicing: 2 isoforms:  Q96T53-1   Q96T53-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MBOAT4: NX_Q96T53

Explore proteomics data for MBOAT4 at MOPED


See MBOAT4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001094386.1  
ENSEMBL proteins: 
 ENSP00000314196  
Reactome Protein details: Q96T53

MBOAT4 Human Recombinant Protein Products:

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Search eBioscience for ELISAs for MBOAT4 


(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 Q96T53

ProtoNet protein and cluster: Q96T53

UniProtKB/Swiss-Prot: MBOA4_HUMAN, Q96T53
Similarity: Belongs to the membrane-bound acyltransferase family


Find genes that share domains with MBOAT4           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: MBOA4_HUMAN, Q96T53
Function: Mediates the octanoylation of ghrelin at 'Ser-3'. Can use a variety of fatty acids as substrates
including octanoic acid, decanoic acid and tetradecanoic acid

     Enzyme Number (IUBMB): EC 2.3.1.-1

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016412serine O-acyltransferase activity IDA18443287
     
Find genes that share ontologies with MBOAT4           About GenesLikeMe


Phenotypes:
     5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Mboat4):
 adipose tissue  behavior/neurological  growth/size/body  homeostasis/metabolism  mortality/aging 

Find genes that share phenotypes with MBOAT4           About GenesLikeMe

Animal Models:
     MGI mouse knock-out Mboat4tm1Jagu for MBOAT4

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MBOAT4
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2 qRT-PCR Assays for microRNAs that regulate MBOAT4:
hsa-miR-3688-3p hsa-miR-3153
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Inhib. RNA
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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
MBOA4_HUMAN, Q96T53: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
endoplasmic reticulum5
plasma membrane3
nucleus1

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005789endoplasmic reticulum membrane TAS--
GO:0030176integral component of endoplasmic reticulum membrane ISS--

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(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 MBOAT4 About    
See pathways by source

SuperPathContained pathways About
1Peptide hormone metabolism
Peptide hormone metabolism0.30
Synthesis, Secretion, and Deacylation of Ghrelin0.00
2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Metabolism of proteins0.30


Find genes that share SuperPaths with MBOAT4           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


1 Reactome Pathway for MBOAT4
    Synthesis, secretion, and deacylation of Ghrelin


    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MBOAT4
Interactions:

    Search GeneGlobe Interaction Network for MBOAT4

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

Selected Interacting proteins for MBOAT4 (ENSP000003141964) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
InteractantInteraction Details
GeneCardExternal ID(s)
PCSK1ENSP000003080244STRING: ENSP00000308024
SEC11AENSP000002682204STRING: ENSP00000268220
SEC11CENSP000002997144STRING: ENSP00000299714
SPCS1ENSP000002330254STRING: ENSP00000233025
SPCS2ENSP000002636724STRING: ENSP00000263672
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Gene Ontology (GO): 2 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0018191peptidyl-serine octanoylation IDA18443287
GO:0044267cellular protein metabolic process TAS--

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(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 MBOAT4 (MBOA4)



(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 MBOAT4 gene: 
NM_001100916.1  

Unigene Cluster for MBOAT4:

Membrane bound O-acyltransferase domain containing 4
Hs.627194  [show with all ESTs]
Unigene Representative Sequence: NM_001100916
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000320542(uc010lvg.3)
miRNA
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2 qRT-PCR Assays for microRNAs that regulate MBOAT4:
hsa-miR-3688-3p hsa-miR-3153
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for MBOAT4
Predesigned siRNA for gene silencing in human, mouse, rat MBOAT4
Clone
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GenScript: all cDNA clones in your preferred vector: MBOAT4 (NM_001100916)
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Primer
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  QuantiFast Probe-based Assays in human, mouse, rat MBOAT4

Additional mRNA sequence: EU518495.2 

1 DOTS entry:

DT.120629872 

GeneLoc Exon Structure


(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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MBOAT4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
MBOAT4 Expression
About this image

MBOAT4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

MBOAT4 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.627194

UniProtKB/Swiss-Prot: MBOA4_HUMAN, Q96T53
Tissue specificity: Expressed predominantly in stomach with moderate levels in pancreas and relatively low levels
in most other tissues

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBOAT4

(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 MBOAT4 gene from Selected species (see all 14)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Mboat41 , 5 membrane bound O-acyltransferase domain containing more1, 5 80.84(n)1
78.62(a)1
  8 (20.90 cM)5
2341551  NM_001126314.21  NP_001119786.11 
 341150305 
chicken
(Gallus gallus)
Aves MBOAT41 membrane bound O-acyltransferase domain containing more 59.9(n)
54.52(a)
  428757  NM_001199289.1  NP_001186218.1 
lizard
(Anolis carolinensis)
Reptilia MBOAT46
membrane bound O-acyltransferase domain containing...
55(a)
1 ↔ 1
GL343257.1(768414-776511)
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1004878401 ghrelin O-acyltransferase-like 56.34(n)
49.17(a)
  100487840  XM_002936459.2  XP_002936505.2 
zebrafish
(Danio rerio)
Actinopterygii mboat41 membrane bound O-acyltransferase domain containing more 50.42(n)
39.25(a)
  795709  NM_001122944.1  NP_001116416.1 
fruit fly
(Drosophila melanogaster)
Insecta oys6
oysgedart
13(a)
1 → many
2R(5923268-5936123)
worm
(Caenorhabditis elegans)
Secernentea mboa-56
mboa-46
(see all 3)
Protein MBOA-5 (mboa-5) mRNA, complete cds
Protein MBOA-4, isoform b (mboa-4) mRNA, complete ...
(see all 3)
17(a)
15(a)
(see all 3)
many ↔ many
many ↔ many
(see all 3)
IV(17239941-17241533) WBGene00013995
IV(11157149-11159492) WBGene00007446
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALE16
Broad-specificity lysophospholipid acyltransferase...
12(a)
1 → many
XV(659815-661674) YOR175C


ENSEMBL Gene Tree for MBOAT4 (if available)
TreeFam Gene Tree for MBOAT4 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for MBOAT4 gene
LPCAT32  MBOAT12  MBOAT22  MBOAT72  

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(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 MBOAT4 (see all 259)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 8 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs735767251,2
C,F--29995761(+) AATTAC/TTCTTT 1 -- int11Minor allele frequency- T:0.50WA 2
rs1413523311,2
--29995821(+) CTGGGC/TGGTTA 1 -- int10--------
rs1893699441,2
--29995828(+) GTTACA/GCTAAC 1 -- int10--------
rs1912616031,2
--29995867(+) GTTAGA/CCCCAT 1 -- int10--------
rs1451345531,2
C--29995905(+) GAAAGA/CGGTAA 1 -- int10--------
rs1159765261,2
F--29995916(+) AATGAC/TTTGCT 1 -- int11Minor allele frequency- T:0.01WA 118
rs1173684971,2
C,F--29995918(+) TGACTT/CGCTCA 1 -- int11Minor allele frequency- C:0.02NA 120
rs1485039051,2
C--29996007(+) CAAAC-/TGTA  
        
TGTAG
1 -- int10--------
rs1473974451,2
F--29996058(-) AGCCTC/TCTTCT 2 P S mis11Minor allele frequency- T:0.00NS 24056
rs1427603871,2
F--29996068(-) TATCTG/ACATGA 2 /L syn11Minor allele frequency- A:0.00NS 24082

HapMap Linkage Disequilibrium report for MBOAT4 (29989187 - 30002202 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for MBOAT4:    About this table    
Variant IDTypeSubtypePubMed ID
esv2736827CNV Deletion23290073
nsv831277CNV Gain17160897

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing MBOAT4
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(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: 611940    OMIM disorders: --


Find genes that share disorders with MBOAT4           About GenesLikeMe

Human Genome Epidemiology (HuGE) Navigator: MBOAT4 (1 document)

Export disorders for MBOAT4 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 MBOAT4 gene, integrated from 10 sources (see all 12):
(articles sorted by number of sources associating them with MBOAT4)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Ghrelin octanoylation mediated by an orphan lipid transferase. (PubMed id 18443287)1, 2, 3 Gutierrez J.A.... Hale J.E. (Proc. Natl. Acad. Sci. U.S.A. 2008)
  2. Ghrelin gene products, receptors, and GOAT enzyme: biological and pathophysiological insight. (PubMed id 24194510)1 Gahete M.D....Luque R.M. (J. Endocrinol. 2014)
  3. Architectural organization of the metabolic regulatory enzyme ghrelin O-acyltransferase. (PubMed id 24045953)1 Taylor M.S....Cole P.A. (J. Biol. Chem. 2013)
  4. Ghrelin O-acyltransferase (GOAT) is expressed in prostate cancer tissues and cell lines and expression is differentially regulated in vitro by ghrelin. (PubMed id 23879975)1 Seim I....Chopin L.K. (amp 2013)
  5. The ghrelin O-acyltransferase-ghrelin system reduces TNF-I+-induced apoptosis and autophagy in human visceral adipocytes. (PubMed id 22869322)1 RodrA-guez A....FrA1hbeck G. (Diabetologia 2012)
  6. The expression of ghrelin O-acyltransferase (GOAT) in human tissues. (PubMed id 21646729)1 Lim C.T....Korbonits M. (Endocr. J. 2011)
  7. Genetic variation of the ghrelin activator gene ghrelin O-acyltransferase (GOAT) is associated with anorexia nervosa. (PubMed id 21035823)1 MA1ller T.D....Hinney A. (J Psychiatr Res 2011)
  8. The ghrelin O-acyltransferase-ghrelin system: a novel regulator of glucose metabolism. (PubMed id 21150588)1 Heppner K.M....TschAPp M.H. (Curr Opin Endocrinol Diabetes Obes 2011)
  9. Genetic studies on the ghrelin, growth hormone secretagogue receptor (GHSR) and ghrelin O-acyl transferase (GOAT) genes. (PubMed id 21930173)1 Liu B....Korbonits M. (Peptides 2011)
  10. Expression and modulation of ghrelin O-acyltransferase in cultured chondrocytes. (PubMed id 19479831)1 GA^mez R....Gualillo O. (Arthritis Rheum. 2009)

(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: 619373 HGNC: 32311 Ensembl:ENSG00000177669 euGenes: HUgn619373 ECgene: MBOAT4
H-InvDB: MBOAT4

(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)
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NameDescription
PharmGKB entry for MBOAT4 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 MBOAT4 gene:
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(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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