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Protein

Lysophospholipid acyltransferase 7

Gene

MBOAT7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Acyltransferase which contributes to the regulation of free arachidonic acid (AA) in the cell through the remodeling of phospholipids. 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. Required for cortical lamination during brain development (By similarity).By similarity2 Publications

Catalytic activityi

Acyl-CoA + 1-acyl-sn-glycero-3-phosphatidylinositol = CoA + 1,2-diacyl-sn-glycero-3-phosphatidylinositol.1 Publication
Acyl-[acyl-carrier-protein] + 1-acyl-sn-glycerol 3-phosphate = [acyl-carrier-protein] + 1,2-diacyl-sn-glycerol 3-phosphate.1 Publication

Enzyme regulationi

Activity is inhibited by thimerosal.

Pathwayi: phospholipid metabolism

This protein is involved in the pathway phospholipid metabolism, which is part of Lipid metabolism.1 Publication
View all proteins of this organism that are known to be involved in the pathway phospholipid metabolism and in Lipid metabolism.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionAcyltransferase, Transferase
Biological processLipid biosynthesis, Lipid metabolism, Phospholipid biosynthesis, Phospholipid metabolism

Enzyme and pathway databases

ReactomeiR-HSA-1482922. Acyl chain remodelling of PI.
UniPathwayiUPA00085.

Chemistry databases

SwissLipidsiSLP:000000131.

Names & Taxonomyi

Protein namesi
Recommended name:
Lysophospholipid acyltransferase 7Curated (EC:2.3.1.-1 Publication)
Short name:
LPLAT 7Curated
Alternative name(s):
1-acylglycerophosphatidylinositol O-acyltransferaseCurated (EC:2.3.1.n41 Publication)
Bladder and breast carcinoma-overexpressed gene 1 protein
Leukocyte receptor cluster member 4
Lysophosphatidylinositol acyltransferase1 Publication
Short name:
LPIAT1 Publication
Short name:
Lyso-PI acyltransferase1 Publication
Membrane-bound O-acyltransferase domain-containing protein 71 Publication
Short name:
O-acyltransferase domain-containing protein 71 Publication
Short name:
h-mboa-71 Publication
Gene namesi
Name:MBOAT7Imported
Synonyms:BB1, LENG4, OACT7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000125505.16.
HGNCiHGNC:15505. MBOAT7.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei9 – 29HelicalSequence analysisAdd BLAST21
Transmembranei44 – 64HelicalSequence analysisAdd BLAST21
Transmembranei74 – 94HelicalSequence analysisAdd BLAST21
Transmembranei197 – 217HelicalSequence analysisAdd BLAST21
Transmembranei247 – 267HelicalSequence analysisAdd BLAST21
Transmembranei355 – 375HelicalSequence analysisAdd BLAST21
Transmembranei429 – 449HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal recessive 57 (MRT57)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT57 patients have moderate to severe intellectual disability, and delayed psychomotor development with poor or absent speech. Some patients manifest seizures and autistic features.
See also OMIM:617188
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078044253 – 259Missing in MRT57. 1 Publication7

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi79143.
MalaCardsiMBOAT7.
MIMi617188. phenotype.
OpenTargetsiENSG00000125505.
PharmGKBiPA162395057.

Polymorphism and mutation databases

DMDMi167008974.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003174571 – 472Lysophospholipid acyltransferase 7Add BLAST472

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi321N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ96N66.
MaxQBiQ96N66.
PaxDbiQ96N66.
PeptideAtlasiQ96N66.
PRIDEiQ96N66.

PTM databases

iPTMnetiQ96N66.
PhosphoSitePlusiQ96N66.
SwissPalmiQ96N66.

Expressioni

Tissue specificityi

Overexpressed in metastatic breast and bladder carcinomas relative to normal breast epithelium and urothelium.1 Publication

Gene expression databases

BgeeiENSG00000125505.
CleanExiHS_MBOAT7.
ExpressionAtlasiQ96N66. baseline and differential.
GenevisibleiQ96N66. HS.

Organism-specific databases

HPAiHPA055967.

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi122562. 56 interactors.
IntActiQ96N66. 33 interactors.
MINTiMINT-4991231.
STRINGi9606.ENSP00000245615.

Structurei

3D structure databases

ProteinModelPortaliQ96N66.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2706. Eukaryota.
COG5202. LUCA.
GeneTreeiENSGT00550000074565.
HOVERGENiHBG105712.
InParanoidiQ96N66.
KOiK13516.
OMAiLSECVCT.
OrthoDBiEOG091G074Q.
PhylomeDBiQ96N66.
TreeFamiTF320024.

Family and domain databases

InterProiView protein in InterPro
IPR004299. MBOAT_fam.
PfamiView protein in Pfam
PF03062. MBOAT. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96N66-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSPEEWTYLV VLLISIPIGF LFKKAGPGLK RWGAAAVGLG LTLFTCGPHT
60 70 80 90 100
LHSLVTILGT WALIQAQPCS CHALALAWTF SYLLFFRALS LLGLPTPTPF
110 120 130 140 150
TNAVQLLLTL KLVSLASEVQ DLHLAQRKEM ASGFSKGPTL GLLPDVPSLM
160 170 180 190 200
ETLSYSYCYV GIMTGPFFRY RTYLDWLEQP FPGAVPSLRP LLRRAWPAPL
210 220 230 240 250
FGLLFLLSSH LFPLEAVRED AFYARPLPAR LFYMIPVFFA FRMRFYVAWI
260 270 280 290 300
AAECGCIAAG FGAYPVAAKA RAGGGPTLQC PPPSSPEKAA SLEYDYETIR
310 320 330 340 350
NIDCYSTDFC VRVRDGMRYW NMTVQWWLAQ YIYKSAPARS YVLRSAWTML
360 370 380 390 400
LSAYWHGLHP GYYLSFLTIP LCLAAEGRLE SALRGRLSPG GQKAWDWVHW
410 420 430 440 450
FLKMRAYDYM CMGFVLLSLA DTLRYWASIY FCIHFLALAA LGLGLALGGG
460 470
SPSRRKAASQ PTSLAPEKLR EE
Length:472
Mass (Da):52,765
Last modified:February 5, 2008 - v2
Checksum:i1743F924468D3D2D
GO
Isoform 2 (identifier: Q96N66-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-111: MSPEEWTYLV...NAVQLLLTLK → MGSSRCGPGA...DLGPHSGPAL

Show »
Length:399
Mass (Da):44,733
Checksum:i4752259488006B9E
GO
Isoform 3 (identifier: Q96N66-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     345-472: Missing.

Show »
Length:344
Mass (Da):38,470
Checksum:i73531559C0D6F217
GO

Sequence cautioni

The sequence AAB37433 differs from that shown. Reason: Frameshift at positions 63, 93, 144 and 186.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti70S → P in BAB71043 (PubMed:14702039).Curated1
Sequence conflicti345S → T in AAB37433 (PubMed:8702217).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078044253 – 259Missing in MRT57. 1 Publication7
Natural variantiVAR_038526261F → L1 PublicationCorresponds to variant dbSNP:rs17855385Ensembl.1
Natural variantiVAR_038527415V → L. Corresponds to variant dbSNP:rs35909464Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0309671 – 111MSPEE…LLTLK → MGSSRCGPGAHPVHLWPPHF AFSGHHPRDLGPHSGPAL in isoform 2. 2 PublicationsAdd BLAST111
Alternative sequenceiVSP_030968345 – 472Missing in isoform 3. 1 PublicationAdd BLAST128

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EU016381 mRNA. Translation: ABV66273.1.
AK055908 mRNA. Translation: BAB71043.1.
AK298689 mRNA. Translation: BAG60849.1.
CU151838 Genomic DNA. No translation available.
CU457734 Genomic DNA. No translation available.
CH471135 Genomic DNA. Translation: EAW72199.1.
CH471135 Genomic DNA. Translation: EAW72202.1.
BC002512 mRNA. Translation: AAH02512.2.
BC003164 mRNA. Translation: AAH03164.2.
BC006309 mRNA. Translation: AAH06309.1.
BC015857 mRNA. Translation: AAH15857.1.
S82470 mRNA. Translation: AAB37433.1. Frameshift.
CCDSiCCDS12883.1. [Q96N66-1]
CCDS54315.1. [Q96N66-2]
CCDS54316.1. [Q96N66-3]
RefSeqiNP_001139528.1. NM_001146056.2. [Q96N66-2]
NP_001139554.1. NM_001146082.2. [Q96N66-3]
NP_001139555.1. NM_001146083.2. [Q96N66-2]
NP_077274.3. NM_024298.4. [Q96N66-1]
XP_011525601.1. XM_011527299.2. [Q96N66-1]
XP_011525602.1. XM_011527300.2. [Q96N66-1]
UniGeneiHs.467279.

Genome annotation databases

EnsembliENST00000245615; ENSP00000245615; ENSG00000125505. [Q96N66-1]
ENST00000338624; ENSP00000344377; ENSG00000125505. [Q96N66-2]
ENST00000391754; ENSP00000375634; ENSG00000125505. [Q96N66-3]
ENST00000431666; ENSP00000410503; ENSG00000125505. [Q96N66-2]
ENST00000610862; ENSP00000481119; ENSG00000276935. [Q96N66-3]
ENST00000611239; ENSP00000481947; ENSG00000277025. [Q96N66-2]
ENST00000611602; ENSP00000482369; ENSG00000278322. [Q96N66-2]
ENST00000612053; ENSP00000482884; ENSG00000278519. [Q96N66-2]
ENST00000612567; ENSP00000483526; ENSG00000277733. [Q96N66-2]
ENST00000613506; ENSP00000478965; ENSG00000274194. [Q96N66-1]
ENST00000613746; ENSP00000484933; ENSG00000275118. [Q96N66-1]
ENST00000614279; ENSP00000480894; ENSG00000276935. [Q96N66-2]
ENST00000615282; ENSP00000483987; ENSG00000275118. [Q96N66-2]
ENST00000615453; ENSP00000482625; ENSG00000278519. [Q96N66-1]
ENST00000617012; ENSP00000484199; ENSG00000276935. [Q96N66-1]
ENST00000617656; ENSP00000481864; ENSG00000274194. [Q96N66-2]
ENST00000617772; ENSP00000480575; ENSG00000274194. [Q96N66-2]
ENST00000618378; ENSP00000482252; ENSG00000277025. [Q96N66-1]
ENST00000618826; ENSP00000483839; ENSG00000277923. [Q96N66-2]
ENST00000618899; ENSP00000480531; ENSG00000273592. [Q96N66-3]
ENST00000619670; ENSP00000479750; ENSG00000275118. [Q96N66-3]
ENST00000619745; ENSP00000481544; ENSG00000277025. [Q96N66-2]
ENST00000619842; ENSP00000481455; ENSG00000277923. [Q96N66-1]
ENST00000619855; ENSP00000484954; ENSG00000273592. [Q96N66-1]
ENST00000620311; ENSP00000478522; ENSG00000277923. [Q96N66-2]
ENST00000620371; ENSP00000479760; ENSG00000273592. [Q96N66-2]
ENST00000620636; ENSP00000482742; ENSG00000278322. [Q96N66-2]
ENST00000621146; ENSP00000481758; ENSG00000277733. [Q96N66-2]
ENST00000621455; ENSP00000477891; ENSG00000278519. [Q96N66-2]
ENST00000621612; ENSP00000478088; ENSG00000278322. [Q96N66-1]
ENST00000621875; ENSP00000478041; ENSG00000277733. [Q96N66-1]
GeneIDi79143.
KEGGihsa:79143.
UCSCiuc032icm.2. human. [Q96N66-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMBOA7_HUMAN
AccessioniPrimary (citable) accession number: Q96N66
Secondary accession number(s): A9C4B6
, B0V3I5, B4DQ87, Q05DF0, Q7L5N2, Q99908, Q9BPV2, Q9BRE9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: February 5, 2008
Last modified: November 22, 2017
This is version 118 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families