Q69ZF3
PR
Gene name |
Gba2 |
Protein name |
Non-lysosomal glucosylceramidase |
Names |
NLGase, Beta-glucocerebrosidase 2, Beta-glucosidase 2, Bile acid beta-glucosidase GBA2, Bile acid glucosyl transferase GBA2, Cholesterol glucosyltransferase GBA2, Cholesteryl-beta-glucosidase GBA2, Glucosylceramidase 2, Non-lysosomal cholesterol glycosyltransferase, Non-lysosomal galactosylceramidase, Non-lysosomal glycosylceramidase |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:230101 |
EC number |
3.2.1.45: Glycosidases, ie enzymes hydrolyzing O- and S-glycosyl compounds |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q69ZF3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q69ZF3-F1 | Predicted | AlphaFoldDB |
65 variants for Q69ZF3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3393918332 | 22 | C>* | No | EVA | |
| rs3388673029 | 26 | G>R | No | EVA | |
| rs3388673045 | 33 | V>I | No | EVA | |
| rs3388678244 | 38 | S>N | No | EVA | |
| rs3388683632 | 54 | E>* | No | EVA | |
| rs48573091 | 71 | Q>L | No | EVA | |
| rs3388681937 | 80 | C>W | No | EVA | |
| rs217165358 | 97 | I>V | No | EVA | |
| rs3388678228 | 108 | M>I | No | EVA | |
| rs3388684411 | 115 | W>* | No | EVA | |
| rs3388680640 | 140 | I>F | No | EVA | |
| rs3388673055 | 148 | I>N | No | EVA | |
| rs3388683634 | 155 | R>G | No | EVA | |
| rs3388681930 | 164 | W>* | No | EVA | |
| rs264368422 | 188 | D>E | No | EVA | |
| rs3388674554 | 198 | S>F | No | EVA | |
| rs3388674557 | 210 | W>* | No | EVA | |
| rs3388678375 | 241 | C>W | No | EVA | |
| rs3388676437 | 246 | P>S | No | EVA | |
| rs3388678338 | 248 | L>W | No | EVA | |
| rs3388683581 | 256 | S>T | No | EVA | |
| rs3388668357 | 262 | F>S | No | EVA | |
| rs3413145609 | 277 | S>F | No | EVA | |
| rs3388668374 | 283 | R>Q | No | EVA | |
| rs261111290 | 302 | R>H | No | EVA | |
| rs3388668915 | 335 | D>Y | No | EVA | |
| rs3388678291 | 369 | Q>L | No | EVA | |
| rs3388672989 | 375 | K>R | No | EVA | |
| rs3388668991 | 377 | E>V | No | EVA | |
| rs3388668946 | 381 | G>R | No | EVA | |
| rs28327684 | 385 | V>I | No | EVA | |
| rs3388683571 | 391 | P>S | No | EVA | |
| rs3388674547 | 424 | F>V | No | EVA | |
| rs3388681957 | 469 | S>Y | No | EVA | |
| rs3388668954 | 481 | G>* | No | EVA | |
| rs3388681116 | 485 | W>* | No | EVA | |
| rs3394232499 | 491 | D>Y | No | EVA | |
| rs3388681053 | 497 | L>M | No | EVA | |
| rs3393897082 | 498 | G>V | No | EVA | |
| rs3394176084 | 501 | M>L | No | EVA | |
| rs3388680670 | 514 | F>L | No | EVA | |
| rs28327690 | 539 | V>I | No | EVA | |
| rs3388678391 | 565 | R>* | No | EVA | |
| rs3388673031 | 573 | V>E | No | EVA | |
| rs3388668406 | 577 | K>I | No | EVA | |
| rs3393897136 | 596 | R>Q | No | EVA | |
| rs3388684454 | 614 | K>R | No | EVA | |
| rs3388681034 | 618 | Q>* | No | EVA | |
| rs3394174974 | 667 | Y>H | No | EVA | |
| rs234636229 | 669 | A>G | No | EVA | |
| rs260239102 | 672 | T>A | No | EVA | |
| rs3394297350 | 686 | A>T | No | EVA | |
| rs3394174965 | 689 | V>G | No | EVA | |
| rs255716973 | 695 | V>I | No | EVA | |
| rs3388681615 | 716 | A>G | No | EVA | |
| rs3388661198 | 719 | R>K | No | EVA | |
| rs3388668961 | 769 | V>M | No | EVA | |
| rs3388668399 | 775 | T>S | No | EVA | |
| rs3388668981 | 785 | A>T | No | EVA | |
| rs3413041954 | 797 | P>L | No | EVA | |
| rs3388681686 | 830 | W>* | No | EVA | |
| rs3388684408 | 858 | C>R | No | EVA | |
| rs3388661275 | 858 | C>Y | No | EVA | |
| rs3388681976 | 875 | W>* | No | EVA | |
| rs3388668928 | 876 | A>V | No | EVA |
No associated diseases with Q69ZF3
Functions
| Description | ||
|---|---|---|
| EC Number | 3.2.1.45 | Glycosidases, ie enzymes hydrolyzing O- and S-glycosyl compounds |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extrinsic component of endoplasmic reticulum membrane | The component of the endoplasmic reticulum membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| extrinsic component of Golgi membrane | The component of a Golgi membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| extrinsic component of membrane | The component of a membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| beta-glucosidase activity | Catalysis of the hydrolysis of terminal, non-reducing beta-D-glucose residues with release of beta-D-glucose. |
| galactosylceramidase activity | Catalysis of the reaction: D-galactosyl-N-acylsphingosine + H2O = D-galactose + N-acylsphingosine. |
| glucosylceramidase activity | Catalysis of the reaction: D-glucosyl-N-acylsphingosine + H2O = D-glucose + N-acylsphingosine. |
| glucosyltransferase activity | Catalysis of the transfer of a glucosyl group to an acceptor molecule, typically another carbohydrate or a lipid. |
| steryl-beta-glucosidase activity | Catalysis of the reaction: cholesteryl-beta-D-glucoside + H(2)O = D-glucose + cholesterol. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| carbohydrate metabolic process | The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. |
| central nervous system development | The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. |
| central nervous system neuron development | The process whose specific outcome is the progression of a neuron whose cell body is located in the central nervous system, from initial commitment of the cell to a neuronal fate, to the fully functional differentiated neuron. |
| cholesterol metabolic process | The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. |
| glucosylceramide catabolic process | The chemical reactions and pathways resulting in the breakdown of glucosylceramides, any compound formed by the replacement of the glycosidic hydroxyl group of a cyclic form of glucose by a ceramide group. |
| glycoside catabolic process | The chemical reactions and pathways resulting in the breakdown of glycosides, compounds in which a glycosyl group is substituted into a hydroxyl, thiol or selenol group in another compound. |
| lipid glycosylation | Covalent attachment of a glycosyl residue to a lipid molecule. |
| regulation of actin filament polymerization | Any process that modulates the frequency, rate or extent of the assembly of actin filaments by the addition of actin monomers to a filament. |
| regulation of membrane lipid distribution | Any process that modulates the proportions or spatial arrangement of lipids in a cellular membrane. |
| regulation of microtubule polymerization | Any process that modulates the frequency, rate or extent of microtubule polymerization. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVTCVPASEQ | VGCAERDSQV | YCEDTGGTEA | VRVTDCGSPE | DSGPQDEPSY | CNSEDSGQLM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ASYEGKARGY | QVPPFGWRIC | LAHEFAEKRR | PFQANNISLS | NLVKHLGMGL | RYLKWWYRKT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HVEKKTPFID | MLNSLPLRQI | YGCPLGGIGG | GTITRGWRGQ | FCRWQLNPGM | YQHQTVIADQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FIVCLRRDGR | TVYQQVLSLE | LPNVLRSWNW | GLCGYFAFYH | ALYPRAWTVY | QLPGQNVTLT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| CRQVTPILPH | DYQDSSLPVG | VFVWDVENEG | DETLDVSITF | SMRNGLGGED | DAAGSLWNEP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FRLEQGGTTV | QGLLLHHPTP | PNPYTMAVAA | RCTADTTVTH | TTAFDPNGTG | QQVWQDLLQD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GQLDSPAGQS | TPTQKGEGIA | GAVCVSSKLL | PRSRCCLEFS | LAWDMPKIMF | GAKSQVHYRR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| YTRFFGSDGD | VAPALSHYAL | CHYADWEDRI | SAWQNPVLDD | RTLPAWYKSA | LFNELYFLAD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GGTVWLEVPA | DSLPEGLGGS | MRQLRSTLQD | YGRFGYLEGQ | EYRMYNTYDV | HFYASFALVM |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LWPKLELSLQ | YDMALATLKE | DLTRRRYLMS | GVVAPVKRRN | VIPHDIGDPD | DEPWLRVNAY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LIHDTADWKD | LNLKFVLQIY | RDYYLTGDQG | FLEDMWPVCL | AVMESEMKFD | KDQDGLIENG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GYADQTYDAW | VTTGPSAYCG | GLWLAAVAVM | VQMAVLCGAQ | DVQERFASIL | CRGREAYERL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LWNGRYYNYD | SSSHPQSRSI | MSDQCAGQWF | LRACGLGEGD | TEVFPTLHVV | RALQTIFELN |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VQAFAGGAMG | AVNGMHPHGV | PDRSSVQSDE | VWVGVVYGLA | ATMIQEGLTW | EGFRTAEGCY |
| 850 | 860 | 870 | 880 | 890 | 900 |
| RTVWERLGLA | FQTPEAYCQQ | QVFRSLAYMR | PLSIWAMQLA | LQQQQHKKSR | RPSVTQGTGL |
| 910 | |||||
| STQPECGPKR | SLANLNSE |