| Gene Information | |
|---|---|
| Gene Name | FKRP |
| Organism | Homo sapiens (Human) |
| Gene Length | 495 |
| Protein Names | Ribitol 5-phosphate transferase FKRP (EC 2.7.8.-) (Fukutin-related protein) (Ribitol-5-phosphate transferase) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000181027 ) |
| Evolutionary Stage | Opisthokonta |
| AlphaFoldDB | Q9H9S5 |
| Gene Card | FKRP |
| Uniprot ID | Q9H9S5 |
| Pfam | PF04991 |
| In ASD | no |
| Allosteric Prediction | no (-1.041752854) |
| Ortholog in Animals | Alpaca_ FKRP ( ortholog_one2one ) Dog_ FKRP ( ortholog_one2one ) GuineaPig_ FKRP ( ortholog_one2one ) Macaque_ FKRP ( ortholog_one2one ) Mouse_ Fkrp ( ortholog_one2one ) Pig_ FKRP ( ortholog_one2one ) Rat_ Fkrp ( ortholog_one2one ) Rabbit_ FKRP ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in the retina (at protein level) (PubMed:29416295). Expressed predominantly in skeletal muscle, placenta, and heart and relatively weakly in brain, lung, liver, kidney, and pancreas (PubMed:11592034). {ECO:0000269|PubMed:11592034, ECO:0000269|PubMed:29416295}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 6KAJ (X-ray 2.22A ) 6KAK (X-ray 2.06A ) 6KAL (X-ray 2.60A ) 6KAM (X-ray 2.46A ) 6KAN (X-ray 2.25A ) 6L7S (X-ray 2.41A ) 6L7T (X-ray 2.41A ) 6L7U (X-ray 2.24A ) |
| DBSNP | rs28937905 rs104894683 rs143793528 rs104894690 rs148206382 rs543163491 rs28937902 rs28937900 rs104894691 rs563033008 rs104894692 rs104894679 rs398124395 rs752582904 rs28937901 rs104894684 rs1450841129 rs143031195 rs770195088 rs1555739117 rs28937904 rs104894681 rs28937903 rs768606230 rs121908110 rs1057520772 |
| Subcellular location [CC] | Golgi apparatus membrane {ECO:0000269|PubMed:17554798, ECO:0000269|PubMed:21886772, ECO:0000269|PubMed:25279699, ECO:0000269|PubMed:29477842, ECO:0000305|PubMed:26923585}; Single-pass type II membrane protein {ECO:0000305}. Secreted {ECO:0000269|PubMed:19900540}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:Q8CG64}. Rough endoplasmic reticulum {ECO:0000269|PubMed:15213246}. Cytoplasm {ECO:0000250|UniProtKB:Q8CG64}. Note=According to some studies the N-terminal hydrophobic domain is cleaved after translocation to the Golgi apparatus and the protein is secreted (PubMed:19900540). Localization at the cell membrane may require the presence of dystroglycan (By similarity). At the Golgi apparatus localizes to the middle-to-trans-cisternae, as assessed by MG160 colocalization. Detected in rough endoplasmic reticulum in myocytes (PubMed:17554798, PubMed:21886772). In general, mutants associated with severe clinical phenotypes are retained within the endoplasmic reticulum (PubMed:15213246). {ECO:0000250|UniProtKB:Q8CG64, ECO:0000269|PubMed:15213246, ECO:0000269|PubMed:17554798, ECO:0000269|PubMed:19900540, ECO:0000269|PubMed:21886772}. |
| Mouse PG classification | NA |
| click here to return to the previous page | |