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FLASH GENE

Symbol

MBOAT7

contributors: mct - updated : 22-11-2016

HGNC name	membrane bound O-acyltransferase domain containing 7
HGNC id	15505

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MBOAT7D MBOAT7 deficiency
Location	19q13.42      Physical location : 54.677.106 - 54.693.733
Synonym name	breast and bladder cancer overexpressed gene 1
	malignant cell expression-enhanced gene/tumor progression-enhanced gene
	leukocyte receptor cluster (LRC) member 4
	Lysophosphatidylinositol acyltransferase 1
Synonym symbol(s)	BB1, LENG4, OACT7, LPIAT, LPIAT1, LRC4, MBOA7, OACT7, hMBOA-7

DNA

TYPE	functioning gene
STRUCTURE	16.63 kb     8 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_024298 8 - 2615 52 472 - 2008 18772128 NM_001146056 6 - 2409 - 399 - 2008 18772128 NM_001146083 7 - 2488 - 399 - 2008 18772128 NM_001146082 - - 2038 - 344 - 2008 18772128

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine adrenal gland       highly Lymphoid/Immune spleen       highly   thymus       highly Reproductive female system ovary     predominantly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     moderately Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte Blood/Hematopoietic neutrophil Homo sapiens

cell lineage
cell lines	breast, bladder tumor cell line
fluid/secretion	highly in blood and lymph

at STAGE

PROTEIN

PHYSICAL PROPERTIES		Hydrophilic Hydrophobic
STRUCTURE

motifs/domains

both hydrophilic and hydrophobic regions

HOMOLOGY

interspecies

homolog to murine Leng4 (93.6 pc)

Homologene

FAMILY

membrane bound O-acyl transferase family

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	was localized to the mitochondria-associated membrane (MAM), where arachidonic acid (AA)-selective acyl-CoA synthetase is enriched

basic FUNCTION	required for incorporation of polyunsaturated fatty acids into phosphatidylinositol
	is a lysophosphatidylinositol acyltransferase with remarkable specificity for arachidonoyl-CoA
	LPCAT3 and MBOAT7 are implicated in arachidonate recycling, thus regulating free arachidonic acid levels and leukotriene synthesis in neutrophils
	is a membrane-bound phospholipid-remodeling enzyme that transfers arachidonic acid (AA) to lysophosphatidylinositol to produce AA-containing phosphatidylinositol
	likely a critical role for AA-containing phosphatidylinositol in the developing human brain

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MBOAT7D

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in breast and bladder cancers constitutional       gain of function of MBOAT7 in IUGR neonates could be an adaptive response to protect the brain from an adverse environment

Susceptibility

to non-alcoholic fatty liver disease

Variant & Polymorphism SNP	MBOAT7 rs641738 variants represent genetic risk factors for non-alcoholic fatty liver disease (NAFLD)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS