| Gene Information | |
|---|---|
| Gene Name | GBA |
| Organism | Homo sapiens (Human) |
| Gene Length | 536 |
| Protein Names | Lysosomal acid glucosylceramidase (Lysosomal acid GCase) (EC 3.2.1.45) (Acid beta-glucosidase) (Alglucerase) (Beta-glucocerebrosidase) (Beta-GC) (Beta-glucosylceramidase 1) (Cholesterol glucosyltransferase) (SGTase) (EC 2.4.1.-) (Cholesteryl-beta-glucosidase) (EC 3.2.1.-) (D-glucosyl-N-acylsphingosine glucohydrolase) (Glucosylceramidase beta 1) (Imiglucerase) (Lysosomal cholesterol glycosyltransferase) (Lysosomal galactosylceramidase) (EC 3.2.1.46) (Lysosomal glycosylceramidase) |
| Target Name | glucosylceramidase |
| Target Type | Successful target |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | P04062 |
| Gene Card | GBA |
| Uniprot ID | P04062 |
| Pfam | PF02055; PF17189 |
| In ASD | yes |
| Allosteric Prediction | yes (1.000039903) |
| Ortholog in Animals | Alpaca_ GBA ( ortholog_one2one ) Dog_ GBA ( ortholog_one2one ) GuineaPig_ GBA ( ortholog_one2one ) Macaque_ GBA ( ortholog_one2one ) Mouse_ Gba ( ortholog_one2one ) Pig_ GBA ( ortholog_one2one ) Rat_ Gba ( ortholog_one2one ) Rabbit_ GBA ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | NA |
| 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 | 1OGS (X-ray 2.00A ) 1Y7V (X-ray 2.40A ) 2F61 (X-ray 2.50A ) 2J25 (X-ray 2.90A ) 2NSX (X-ray 2.11A ) 2NT0 (X-ray 1.79A ) 2NT1 (X-ray 2.30A ) 2V3D (X-ray 1.96A ) 2V3E (X-ray 2.00A ) 2V3F (X-ray 1.95A ) 2VT0 (X-ray 2.15A ) 2WCG (X-ray 2.30A ) 2WKL (X-ray 2.70A ) 2XWD (X-ray 2.66A ) 2XWE (X-ray 2.31A ) 3GXD (X-ray 2.50A ) 3GXF (X-ray 2.40A ) 3GXI (X-ray 1.84A ) 3GXM (X-ray 2.20A ) 3KE0 (X-ray 2.70A ) 3KEH (X-ray 2.80A ) 3RIK (X-ray 2.48A ) 3RIL (X-ray 2.40A ) 5LVX (X-ray 2.20A ) 6MOZ (X-ray 2.10A ) 6Q1N (X-ray 2.53A ) 6Q1P (X-ray 2.80A ) 6Q6K (X-ray 1.92A ) 6Q6L (X-ray 1.81A ) 6Q6N (X-ray 1.63A ) 6T13 (X-ray 1.85A ) 6TJJ (X-ray 1.59A ) 6TJK (X-ray 1.56A ) 6TJQ (X-ray 1.41A ) 6TN1 (X-ray 0.98A ) 6YTP (X-ray 1.70A ) 6YTR (X-ray 1.70A ) 6YUT (X-ray 1.76A ) 6YV3 (X-ray 1.80A ) 6Z39 (X-ray 1.70A ) 6Z3I (X-ray 1.80A ) 7NWV (X-ray 1.86A ) |
| DBSNP | rs142761046 rs121908302 rs773007510 rs1141811 rs77829017 rs78769774 rs1141814 rs1141815 rs121908312 rs758447515 rs77834747 rs77834747 rs79653797 rs439898 rs79637617 rs121908299 rs377325220 rs79796061 rs398123530 rs80356763 rs78657146 rs1441909908 rs79660787 rs147138516 rs121908297 rs80222298 rs77933015 rs77933015 rs76500263 rs398123532 rs749416070 rs374591570 rs80205046 rs866075757 rs61748906 rs381418 rs364897 rs78911246 rs75636769 rs381427 rs381427 rs1376479747 rs74462743 rs1064644 rs773409311 rs77451368 rs409652 rs76026102 rs121908300 rs381737 rs74500255 rs76725886 rs878853321 rs121908313 rs367968666 rs78973108 rs1296507371 rs80116658 rs79215220 rs1057942 rs74731340 rs765633380 rs79696831 rs121908298 rs77714449 rs77321207 rs78396650 rs78198234 rs121908304 rs1553217294 rs398123526 rs78188205 rs76539814 rs1178732315 rs121908305 rs2230288 rs1064648 rs781306264 rs121908306 rs1161552095 rs398123527 rs121908308 rs121908308 rs74979486 rs149487315 rs76228122 rs121908307 rs1392291885 rs75528494 rs75548401 rs76763715 rs121908314 rs398123528 rs121908311 rs1450426641 rs77284004 rs994723035 rs76910485 rs77738682 rs80356769 rs75385858 rs75243000 rs121908310 rs121908310 rs1553217009 rs74598136 rs75564605 rs1064651 rs77369218 rs1553216985 rs121908295 rs74752878 rs75671029 rs421016 rs421016 rs76071730 rs368060 rs1362103320 rs80356771 rs121908301 rs78016673 rs747506979 rs75822236 |
| Subcellular location [CC] | Lysosome membrane {ECO:0000269|PubMed:17187079, ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:18022370}; Peripheral membrane protein {ECO:0000269|PubMed:10781797, ECO:0000269|PubMed:18022370, ECO:0000269|PubMed:1848227}; Lumenal side {ECO:0000269|PubMed:18022370}. Note=Interaction with saposin-C promotes membrane association (PubMed:10781797). Targeting to lysosomes occurs through an alternative MPR-independent mechanism via SCARB2 (PubMed:18022370). {ECO:0000269|PubMed:10781797, ECO:0000269|PubMed:18022370}. |
| Mouse PG classification | LPG |
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