• Gene id: 79143

Gene Summary

• Gene Symbol: MBOAT7   Gene   UCSC   Ensembl
• Aliases: BB1, LENG4, LPIAT, LPLAT, LRC4, MBOA7, MRT57, OACT7, hMBOA-7
• Gene name: membrane bound O-acyltransferase domain containing 7
• Alternate names: lysophospholipid acyltransferase 7, 1-acylglycerophosphatidylinositol O-acyltransferase, LPLAT 7, bladder and breast carcinoma-overexpressed gene 1 protein, h-mboa-7, leukocyte receptor cluster (LRC) member 4, lyso-PI acyltransferase, lysophosphatidylinositol ac,
• Gene location: 19q13.42 (54189881: 54173411)     Exons: 10     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 618059

Protein Summary

• Protein general information: Q96N66  
  • Name: Lysophospholipid acyltransferase 7 (LPLAT 7) (EC 2.3.1. ) (1 acylglycerophosphatidylinositol O acyltransferase) (EC 2.3.1.n4) (Bladder and breast carcinoma overexpressed gene 1 protein) (Leukocyte receptor cluster member 4) (Lysophosphatidylinositol acylt
  • Length: 472  
  • Mass: 52765
  • Tissue specificity: Overexpressed in metastatic breast and bladder carcinomas relative to normal breast epithelium and urothelium. {ECO
• Sequence:

  MSPEEWTYLVVLLISIPIGFLFKKAGPGLKRWGAAAVGLGLTLFTCGPHTLHSLVTILGTWALIQAQPCSCHALA
  LAWTFSYLLFFRALSLLGLPTPTPFTNAVQLLLTLKLVSLASEVQDLHLAQRKEMASGFSKGPTLGLLPDVPSLM
  ETLSYSYCYVGIMTGPFFRYRTYLDWLEQPFPGAVPSLRPLLRRAWPAPLFGLLFLLSSHLFPLEAVREDAFYAR
  PLPARLFYMIPVFFAFRMRFYVAWIAAECGCIAAGFGAYPVAAKARAGGGPTLQCPPPSSPEKAASLEYDYETIR
  NIDCYSTDFCVRVRDGMRYWNMTVQWWLAQYIYKSAPARSYVLRSAWTMLLSAYWHGLHPGYYLSFLTIPLCLAA
  EGRLESALRGRLSPGGQKAWDWVHWFLKMRAYDYMCMGFVLLSLADTLRYWASIYFCIHFLALAALGLGLALGGG
  SPSRRKAASQPTSLAPEKLREE

• Structural information:
  • Interpro: IPR004299  
  • STRING: ENSP00000245615
• Other Databases: GeneCards:  MBOAT7  Malacards:  MBOAT7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016746	transferase activity, transferring acyl groups	IBA	molecular function
GO:0030258	lipid modification	IBA	biological process
GO:0006661	phosphatidylinositol biosynthetic process	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0044233	mitochondria-associated endoplasmic reticulum membrane	IBA	cellular component
GO:0071617	lysophospholipid acyltransferase activity	IBA	molecular function
GO:0044233	mitochondria-associated endoplasmic reticulum membrane	IDA	cellular component
GO:0021819	layer formation in cerebral cortex	ISS	biological process
GO:0071617	lysophospholipid acyltransferase activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0003841	1-acylglycerol-3-phosphate O-acyltransferase activity	TAS	molecular function
GO:0036149	phosphatidylinositol acyl-chain remodeling	TAS	biological process
GO:0047144	2-acylglycerol-3-phosphate O-acyltransferase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046488	phosphatidylinositol metabolic process	IEA	biological process
GO:0021819	layer formation in cerebral cortex	IEA	biological process
GO:0071617	lysophospholipid acyltransferase activity	IEA	molecular function
GO:0021591	ventricular system development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006644	phospholipid metabolic process	IEA	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00564	Glycerophospholipid metabolism

Diseases

Associated diseases	References
Autosomal recessive mental retardation	KEGG:H00768
Autosomal recessive mental retardation	KEGG:H00768
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R