| Gene Information | |
|---|---|
| Gene Name | RHBDF1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 855 |
| Protein Names | Inactive rhomboid protein 1 (iRhom1) (Epidermal growth factor receptor-related protein) (Rhomboid 5 homolog 1) (Rhomboid family member 1) (p100hRho) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000007384 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | Q96CC6 |
| Gene Card | RHBDF1 |
| Uniprot ID | Q96CC6 |
| Pfam | PF01694; PF12595 |
| In ASD | no |
| Allosteric Prediction | no (-0.791980955) |
| Ortholog in Animals | Alpaca_ RHBDF1 ( ortholog_one2one ) Dog_ RHBDF1 ( ortholog_one2one ) GuineaPig_ RHBDF1 ( ortholog_one2one ) Macaque_ RHBDF1 ( ortholog_one2one ) Mouse_ Rhbdf1 ( ortholog_one2one ) Pig_ RHBDF1 ( ortholog_one2one ) Rat_ Rhbdf1 ( ortholog_one2one ) Rabbit_ RHBDF1 ( ortholog_one2one ) |
| Ohnologs | RHBDF2 |
| Paralogs | RHBDF2, PARL, RHBDL3, RHBDL1, RHBDL2 |
| Tissue | NA |
| Tissue Specificity | Highly expressed in cerebellum, cerebrum, heart, skeletal muscle, placenta, pancreatic islet and testis. Detected at lower levels in colon, kidney, small intestine and lung. {ECO:0000269|PubMed:15965977, ECO:0000269|PubMed:8318735}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | NA |
| DBSNP | rs3213511 |
| Subcellular location [CC] | Endoplasmic reticulum membrane {ECO:0000269|PubMed:15965977, ECO:0000269|PubMed:18832597, ECO:0000269|PubMed:21439629}; Multi-pass membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000269|PubMed:15965977, ECO:0000269|PubMed:18832597}; Multi-pass membrane protein {ECO:0000255}. Note=Predominantly localized in the endoplasmic reticulum membrane (PubMed:15965977). {ECO:0000269|PubMed:15965977}. |
| Mouse PG classification | NA |
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