membrane bound O-acyltransferase domain containing 7

Summary
Gene Symbol
  • MBOAT7
Aliases
  • BB1
  • LPIAT1
  • LPLAT
  • LPLAT11
  • hMBOA-7
  • lysophosphatidylinositol acyltransferase
  • lysophosphatidylinositol acyltransferase 1
  • lysophospholipid acyltransferase 11
  • lysophospholipid acyltransferase 7
Organism
Homo sapiens (human)
External Links
NCBI Gene
79143
HGNC
15505
KEGG Gene ID
hsa:79143
PubChem
79143
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acyltransferase
  • Alternative splicing
  • Disease variant
  • Endoplasmic reticulum
  • Glycoprotein
  • Intellectual disability
  • Phospholipid biosynthesis
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q96N66
  • 1-acylglycerophosphatidylinositol O-acyltransferase
  • Bladder and breast carcinoma-overexpressed gene 1 protein
  • Leukocyte receptor cluster member 4
  • Lysophosphatidylinositol acyltransferase
  • Membrane-bound O-acyltransferase domain-containing protein 7
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K13516
Name
lysophospholipid acyltransferase 7 [EC:2.3.1.-]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 53 in total
DO ID Disease Name Source
DOID:0060041 autism spectrum disorder
DOID:0060262 gallbladder disease
DOID:0060810 syndromic X-linked intellectual disability type 10
DOID:0060823 syndromic X-linked intellectual disability 94
DOID:0081219 autosomal recessive intellectual developmental disorder 57
DOID:10534 stomach cancer
DOID:10588 adrenoleukodystrophy
DOID:1059 intellectual disability
DOID:10907 microcephaly
DOID:10908 hydrocephalus
The Human Phenotype Ontology
Displaying entries 1 - 10 of 18 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000252 Microcephaly
HP:0000729 Autistic behavior
HP:0001249 Intellectual disability
HP:0001250 Seizure
HP:0001263 Global developmental delay
HP:0001276 Hypertonia
HP:0001290 Generalized hypotonia
HP:0001344 Absent speech
HP:0001347 Hyperreflexia
Displaying 1 entry
Disease ID Disease Name
OMIM:617188
  • intellectual disability, autosomal recessive 57

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024