Protein Summary
Plays an important role in the phosphatidylglycerol remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking. May catalyze the remodeling of phosphatidylglycerol and be involved in the transacylation-acylation reaction to produce phosphatidylglycerol-36:1. May be involved in bis(monoacylglycerol)phosphate biosynthetic pathway. The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]
- ENST00000367101
- ENSP00000356068
- ENSG00000122335
- ENST00000367104
- ENSP00000356071
- ENST00000647468
- ENSP00000496731
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
histone modification site profile | 0.86 | ||
transcription factor perturbation | 0.74 | ||
tissue sample | 0.67 | ||
microRNA | 0.61 | ||
tissue | 0.6 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 29.78 (req: < 5)
Gene RIFs: 8 (req: <= 3)
Antibodies: 97 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 29.78 (req: >= 5)
Gene RIFs: 8 (req: > 3)
Antibodies: 97 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 4
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
Expression Data (0 Tissues)
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (70)
SLC18A1
Family: Transporter
Novelty: 0.01135292
p_int: 0.83655615
p_ni: 0.16344385
Score: 0.224
Data Source: BioPlex,STRINGDB
Nearest Tclin Targets
Pathways (0)
Viral Interactions (0)
Gene Ontology Terms (9)
Components (5)
Processes (4)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Direct Assay (IDA) | UniProtKB | |||
Inferred from Direct Assay (IDA) | UniProtKB | |||
Inferred from Direct Assay (IDA) | UniProtKB | |||
Inferred from Electronic Annotation (IEA) | Ensembl | |||
Inferred from Electronic Annotation (IEA) | UniProtKB-KW | |||
Disease Associations (null)
GWAS Traits (5)
Items per page:
1 – 5 of 5
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
serum gamma-glutamyl transferase measurement | 1 | 1 | 1 | 74.2 | |||||
age-related hearing impairment | 1 | 1 | 0 | 7.1 | 55.2 | ||||
lipoprotein A measurement | 1 | 1 | 1 | 39.6 | |||||
intraocular pressure measurement | 1 | 1 | 1 | 31.4 | |||||
cognitive function measurement | 1 | 1 | 1 | 24.5 | |||||
Items per page:
1 – 5 of 5
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
serum gamma-glutamyl transferase measurement | 1 | 74.2 | |||||
age-related hearing impairment | 0 | 7.1 | 55.2 | ||||
lipoprotein A measurement | 1 | 39.6 | |||||
intraocular pressure measurement | 1 | 31.4 | |||||
cognitive function measurement | 1 | 24.5 | |||||
Find similar targets by:
IDG Resources
Orthologs (14)
1 – 5 of 14
Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|---|---|
Chimp | serine active site containing 1 | VGNC:3699 | 104007060 | |||||
Macaque | serine active site containing 1 | 705523 | ||||||
Mouse | MGI:2447813 | 321007 | ||||||
Rat | RGD:1565064 | 499015 | ||||||
Dog | serine active site containing 1 | VGNC:46017 | 476255 | |||||
Species | Name | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|
Chimp | serine active site containing 1 | |||||
Macaque | serine active site containing 1 | |||||
Mouse | ||||||
Rat | ||||||
Dog | serine active site containing 1 | |||||
Publication Statistics
PubMed Score 29.78
PubMed score by year
PubTator Score 20.18
PubTator score by year
Related Publications
Text Mined References (17)
GeneRif Annotations (8)
Items per page:
0 of 0
PMID | Year | Title |
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