membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7
| UniProt | Protein Name |
|---|---|
| Q96N66 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| phosphatidylinositol biosynthetic process | ||
| phosphatidylinositol biosynthetic process | ||
| ventricular system development | ||
| layer formation in cerebral cortex | ||
| lipid modification |
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum | ||
| endoplasmic reticulum membrane | ||
| membrane | ||
| membrane | ||
| mitochondria-associated endoplasmic reticulum membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| 1-acylglycerol-3-phosphate O-acyltransferase activity | ||
| protein binding | ||
| O-acyltransferase activity | ||
| O-acyltransferase activity | ||
| O-acyltransferase activity |
| Gene Ontology |
|---|
| lipid modification |
| lysophospholipid acyltransferase activity |
| transferase activity |
| InterPro |
|---|
| Membrane bound O-acyl transferase, MBOAT |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0081219 | autosomal recessive intellectual developmental disorder 57 |
| 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 |
| Disease ID | Disease Name |
|---|---|
| OMIM:617188 |
|
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: April 6, 2026