Seroatlas · Human Serome Atlas

MBOAT7

Membrane-bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7

Also known as: BB1, hMBOA-7, LENG4, LPIAT1, LPLAT, LPLAT11, MBOA7_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96N66
Gene: MBOAT7
Ensembl: ENSG00000125505
Chromosome: 19
Canonical length: 472 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location: Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

472 residues, UniProt reviewed canonical sequence.

>Q96N66|MBOAT7
     1  MSPEEWTYLV VLLISIPIGF LFKKAGPGLK RWGAAAVGLG LTLFTCGPHT LHSLVTILGT
    61  WALIQAQPCS CHALALAWTF SYLLFFRALS LLGLPTPTPF TNAVQLLLTL KLVSLASEVQ
   121  DLHLAQRKEM ASGFSKGPTL GLLPDVPSLM ETLSYSYCYV GIMTGPFFRY RTYLDWLEQP
   181  FPGAVPSLRP LLRRAWPAPL FGLLFLLSSH LFPLEAVRED AFYARPLPAR LFYMIPVFFA
   241  FRMRFYVAWI AAECGCIAAG FGAYPVAAKA RAGGGPTLQC PPPSSPEKAA SLEYDYETIR
   301  NIDCYSTDFC VRVRDGMRYW NMTVQWWLAQ YIYKSAPARS YVLRSAWTML LSAYWHGLHP
   361  GYYLSFLTIP LCLAAEGRLE SALRGRLSPG GQKAWDWVHW FLKMRAYDYM CMGFVLLSLA
   421  DTLRYWASIY FCIHFLALAA LGLGLALGGG SPSRRKAASQ PTSLAPEKLR EE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MBOAT7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 6
Mean surface accessibility (rSASA): 0.26
Highest tissue expression: 128 nTPM

Expression across tissuesHPA

Tissue

adrenal gland: 128 nTPM
testis: 50 nTPM
cerebral cortex: 49 nTPM
hypothalamus: 45 nTPM
urinary bladder: 38 nTPM
spleen: 35 nTPM

Single-cell type

neutrophils: 68 nCPM
papillary tip epithelial cells: 62 nCPM
other brain neurons: 53 nCPM
renal collecting duct principal cells: 40 nCPM
ependymal cells: 34 nCPM
brain excitatory neurons: 32 nCPM

Immune cell

eosinophil: 266 nTPM
neutrophil: 239 nTPM
basophil: 157 nTPM
myeloid DC: 25 nTPM
classical monocyte: 23 nTPM
intermediate monocyte: 12 nTPM

Brain region

hypothalamus: 118 nTPM
pons: 109 nTPM
midbrain: 105 nTPM
medulla oblongata: 97 nTPM
cerebral cortex: 88 nTPM
basal ganglia: 81 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MBOAT7.

Disease | AllUniProt

Conditions MBOAT7 is implicated in, by any mechanism.

Intellectual developmental disorder, autosomal recessive 57 (MRT57) MIM:617188

Disease | GeneticClinVar

28 pathogenic / likely-pathogenic of 214 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability, autosomal recessive 57
Inborn genetic diseases
MBOAT7-related disorder
Neurodevelopmental abnormality
Intellectual disability

Disease | ImmuneIEDB

Conditions an epitope on MBOAT7 was assayed in.

chronic myeloid leukemia T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.58
gnomAD pLI: 0.11
gnomAD missense Z: 0.44
DepMap mean gene effect: 0.07
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MBOAT7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MBOAT7 as an antibody target. Whether an autoantibody or antibody against MBOAT7 could matter depends on whether native MBOAT7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MBOAT7 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MBOAT7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...