Version: 8.0.0Date: Tue Jan 28 2025
Gene
MBOAT7
- Species
- Homo sapiens
- Symbol
- MBOAT7
- Name
- membrane bound O-acyltransferase domain containing 7
- Synonyms
- 1-acylglycerophosphatidylinositol O-acyltransferase
- BB1
- Biotype
- protein coding gene
- Automated Description
- Enables O-acyltransferase activity. Involved in glycerophospholipid metabolic process and regulation of triglyceride metabolic process. Located in endoplasmic reticulum and mitochondria-associated endoplasmic reticulum membrane contact site. Implicated in autosomal recessive intellectual developmental disorder 57.
- RGD Description
- 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 acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR13906
Stringency:
Additional filters to further constrain the results:
| Species | Gene symbol | Count | Best | Best reverse | Method Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN |
|---|---|---|---|---|---|
| Mus musculus | Mboat7 | 10 of 10 | Yes | Yes | ☑☑☑☑☑☑☑☑☑☑ |
| Rattus norvegicus | Mboat7 | 1 of 10 | No | Yes | ☐☑☐☐☐☐☐☐☐☐ |
| Xenopus laevis | mboat7.L | 1 of 1 | Yes | Yes | ☑ |
| Xenopus tropicalis | mboat7 | 8 of 9 | Yes | Yes | ☐ ☑☑☑☑☑☑☑☑ |
| Danio rerio | mboat7 | 10 of 10 | Yes | Yes | ☑ ☑☑☑☑☑☑☑☑ ☑ |
| Drosophila melanogaster | frj | 9 of 9 | Yes | Yes | ☑ ☑☑☑☑☑☑☑☑ |
| Caenorhabditis elegans | mboa-7 | 9 of 9 | Yes | Yes | ☑ ☑☑☑☑☑☑☑☑ |
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Paralogy
| Gene symbol | Rank | Alignment Length (aa) | Similarity % | Identity % | Method Count | Method Ensembl ComparaHGNCInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidSGD |
|---|---|---|---|---|---|---|
| MBOAT2 | 1 | 522 | 41 | 25 | 3 of 8 | ☑ ☐☐☐☐☑☑☐ |
| MBOAT1 | 2 | 471 | 44 | 25 | 3 of 8 | ☑ ☐☐☐☐☑☑☐ |
| LPCAT3 | 3 | 497 | 36 | 23 | 3 of 8 | ☑ ☐☐☐☐☑☑☐ |
| MBOAT4 | 4 | 511 | 35 | 22 | 3 of 8 | ☑ ☐☐☐☐☑☑☐ |
| PORCN | 5 | 437 | 36 | 23 | 3 of 8 | ☑ ☐☐☐☐☑☑☐ |
Phenotypes
- Primary Sources
- None
- Other Sources
Phenotype Term | Annotation details | References |
|---|---|---|
| Absent speech | ||
| Autistic behavior | ||
| Autosomal recessive inheritance | ||
| Axial hypotonia | ||
| Delayed ability to walk | ||
| Febrile seizure (within the age range of 3 months to 6 years) | ||
| Focal-onset seizure | ||
| Generalized hypotonia | ||
| Generalized myoclonic seizure | ||
| Generalized-onset seizure |
Disease Associations
Cases where the expected disease association was NOT found
Must provide at least one subject
Cell color indicative of annotation volume
Species | Gene | Association | Disease Qualifier | Disease | Evidence | Source | Based On | References |
|---|---|---|---|---|---|---|---|---|
| No records match query. Try removing filters. | ||||||||
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Alleles and Variants
- Genome location
- Chr19:54173412...54189882 - (16.47 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
|---|---|---|---|---|---|---|---|
| NC_000019.10:g.54178861C>T | variant | SNP
| |||||
| NC_000019.10:g.54180784T>G | variant | SNP
| |||||
| NC_000019.10:g.54180864C>T | variant | SNP
| |||||
| NC_000019.10:g.54180966C>T | variant | SNP
| |||||
| NC_000019.10:g.54174234A>G | variant | SNP
| |||||
| NC_000019.10:g.54174059C>A | variant | SNP
| |||||
| NC_000019.10:g.54178790C>T | variant | SNP
| |||||
| NC_000019.10:g.54174173G>T | variant | SNP
| |||||
| NC_000019.10:g.54178766G>A | variant | SNP
| |||||
| NC_000019.10:g.54178807T>C | variant | SNP
| |||||
Sequence Feature Viewer
- Genome location
- Chr19:54173412...54189882 - (16.47 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Must provide at least one subject
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.
Molecular Interactions
200 interactor genes based on 232 annotations
MBOAT7 molecule type | Interactor gene | Interactor species | Interactor molecule type | Detection methods | Source | Reference |
|---|---|---|---|---|---|---|
protein | ACAP2 | Homo sapiens | protein |
| PMID:27173435 | |
protein | ACKR2 | Homo sapiens | protein |
| PMID:33961781 | |
protein | ADCY9 | Homo sapiens | protein |
| PMID:33961781 | |
protein | ADRA1A | Homo sapiens | protein |
| PMID:28298427 | |
protein | ALK | Homo sapiens | protein |
| PMID:39115278 | |
RNA | APEX1 | Homo sapiens | protein |
| PMID:28986522 | |
protein | APLNR | Homo sapiens | protein |
| PMID:33961781 | |
protein | ARF6 | Homo sapiens | protein |
| PMID:34079125 | |
protein | ATP2A1 | Homo sapiens | protein |
| PMID:34079125 | |
protein | ATP2A3 | Homo sapiens | protein |
| PMID:33961781 |