MBOAT7
entrez
79143
canonical
uniprot
Q96N66
canonical
ensembl
ENSG00000125505
resolver
ensembl
ENSG00000273592
resolver
ensembl
ENSG00000274194
resolver
ensembl
ENSG00000275118
resolver
ensembl
ENSG00000276935
resolver
ensembl
ENSG00000277025
resolver
ensembl
ENSG00000277733
resolver
ensembl
ENSG00000277923
resolver
ensembl
ENSG00000278322
resolver
ensembl
ENSG00000278519
resolver
ensp
ENSP00000245615
resolver
ensp
ENSP00000344377
resolver
ensp
ENSP00000375634
resolver
ensp
ENSP00000410503
resolver
ensp
ENSP00000532679
resolver
genesymbol
MBOAT7
resolver
genesymbol_syn
BB1
resolver
genesymbol_syn
LENG4
resolver
genesymbol_syn
OACT7
resolver
hgnc
HGNC:15505
resolver
uniprot
A9C4B6
resolver
uniprot
B0V3I5
resolver
uniprot
B4DQ87
resolver
uniprot
Q05DF0
resolver
uniprot
Q7L5N2
resolver
uniprot
Q99908
resolver
uniprot
Q9BPV2
resolver
uniprot
Q9BRE9
resolver
uniprot_entry
MBOA7_HUMAN
resolver
uniprot_sec
A9C4B6
resolver
uniprot_sec
B0V3I5
resolver
uniprot_sec
B4DQ87
resolver
uniprot_sec
Q05DF0
resolver
uniprot_sec
Q7L5N2
resolver
uniprot_sec
Q99908
resolver
uniprot_sec
Q9BPV2
resolver
uniprot_sec
Q9BRE9
resolver
activity_regulation
ACTIVITY REGULATION: Activity is inhibited by thimerosal. {ECO:0000269|PubMed:18772128}.
uniprot
proteins
amino_acid_sequence
MSPEEWTYLVVLLISIPIGFLFKKAGPGLKRWGAAAVGLGLTLFTCGPHTLHSLVTILGTWALIQAQPCSCHALALAWTFSYLLFFRALSLLGLPTPTPFTNAVQLLLTLKLVSLASEVQDLHLAQRKEMASGFSKGPTLGLLPDVPSLMETLSYSYCYVGIMTGPFFRYRTYLDWLEQPFPGAVPSLRPLLRRAWPAPLFGLLFLLSSHLFPLEAVREDAFYARPLPARLFYMIPVFFAFRMRFYVAWIAAECGCIAAGFGAYPVAAKARAGGGPTLQCPPPSSPEKAASLEYDYETIRNIDCYSTDFCVRVRDGMRYWNMTVQWWLAQYIYKSAPARSYVLRSAWTMLLSAYWHGLHPGYYLSFLTIPLCLAAEGRLESALRGRLSPGGQKAWDWVHWFLKMRAYDYMCMGFVLLSLADTLRYWASIYFCIHFLALAALGLGLALGGGSPSRRKAASQPTSLAPEKLREE
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 57 (MRT57) [MIM:617188]: 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. {ECO:0000269|PubMed:27616480}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.-
uniprot
proteins
function
FUNCTION: Acyltransferase which catalyzes the transfer of an acyl group from an acyl-CoA to a lysophosphatidylinositol (1-acylglycerophosphatidylinositol or LPI) leading to the production of a phosphatidylinositol (1,2-diacyl-sn-glycero-3-phosphoinositol or PI) and participates in the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle (PubMed:18094042, PubMed:18772128). Prefers arachidonoyl-CoA as the acyl donor, thus contributing to the regulation of free levels arachidonic acid in cell (PubMed:18094042, PubMed:18772128). In liver, participates in the regulation of triglyceride metabolism through the phosphatidylinositol acyl-chain remodeling regulation (PubMed:32253259). {ECO:0000269|PubMed:18094042, ECO:0000269|PubMed:18772128, ECO:0000269|PubMed:32253259}.
uniprot
proteins
mass_dalton
52765
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; phospholipid metabolism. {ECO:0000269|PubMed:18094042, ECO:0000269|PubMed:18772128}.
uniprot
proteins
protein_family
Membrane-bound acyltransferase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18094042
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18772128
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23510452
uniprot
proteins
pubmed
27616480
uniprot
proteins
pubmed
30959108
uniprot
proteins
pubmed
32253259
uniprot
proteins
pubmed
8702217
uniprot
proteins
sequence_length
472
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:23510452, ECO:0000269|PubMed:30959108}; Multi-pass membrane protein {ECO:0000305|PubMed:30959108}. Note=Localized in specific membrane structures termed mitochondria-associated membranes (MAMs) which connect the endoplasmic reticulum (ER) and the mitochondria. {ECO:0000269|PubMed:23510452}.
uniprot
proteins
transmembrane_region
TRANSMEM 6..22; /note="Helical"; /evidence="ECO:0000305|PubMed:30959108"; TRANSMEM 34..57; /note="Helical"; /evidence="ECO:0000305|PubMed:30959108"; TRANSMEM 74..93; /note="Helical"; /evidence="ECO:0000305|PubMed:30959108"; TRANSMEM 195..212; /note="Helical"; /evidence="ECO:0000305|PubMed:30959108"; TRANSMEM 232..261; /note="Helical"; /evidence="ECO:0000305|PubMed:30959108"; TRANSMEM 427..447; /note="Helical"; /evidence="ECO:0000305|PubMed:30959108
uniprot
proteins