| UniProt ID | GBA2_HUMAN | |
|---|---|---|
| UniProt AC | Q9HCG7 | |
| Protein Name | Non-lysosomal glucosylceramidase | |
| Gene Name | GBA2 | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 927 | |
| Subcellular Localization |
Endoplasmic reticulum membrane Peripheral membrane protein Cytoplasmic side. Golgi apparatus membrane Peripheral membrane protein Cytoplasmic side. Not localized to lipid rafts. |
|
| Protein Description | Non-lysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide (GlcCer) to free glucose and ceramide. Involved in sphingomyelin generation and prevention of glycolipid accumulation. May also catalyze the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo. Plays a role in central nevous system development. Required for proper formation of motor neuron axons.. | |
| Protein Sequence | MGTQDPGNMGTGVPASEQISCAKEDPQVYCPEETGGTKDVQVTDCKSPEDSRPPKETDCCNPEDSGQLMVSYEGKAMGYQVPPFGWRICLAHEFTEKRKPFQANNVSLSNMIKHIGMGLRYLQWWYRKTHVEKKTPFIDMINSVPLRQIYGCPLGGIGGGTITRGWRGQFCRWQLNPGMYQHRTVIADQFTVCLRREGQTVYQQVLSLERPSVLRSWNWGLCGYFAFYHALYPRAWTVYQLPGQNVTLTCRQITPILPHDYQDSSLPVGVFVWDVENEGDEALDVSIMFSMRNGLGGGDDAPGGLWNEPFCLERSGETVRGLLLHHPTLPNPYTMAVAARVTAATTVTHITAFDPDSTGQQVWQDLLQDGQLDSPTGQSTPTQKGVGIAGAVCVSSKLRPRGQCRLEFSLAWDMPRIMFGAKGQVHYRRYTRFFGQDGDAAPALSHYALCRYAEWEERISAWQSPVLDDRSLPAWYKSALFNELYFLADGGTVWLEVLEDSLPEELGRNMCHLRPTLRDYGRFGYLEGQEYRMYNTYDVHFYASFALIMLWPKLELSLQYDMALATLREDLTRRRYLMSGVMAPVKRRNVIPHDIGDPDDEPWLRVNAYLIHDTADWKDLNLKFVLQVYRDYYLTGDQNFLKDMWPVCLAVMESEMKFDKDHDGLIENGGYADQTYDGWVTTGPSAYCGGLWLAAVAVMVQMAALCGAQDIQDKFSSILSRGQEAYERLLWNGRYYNYDSSSRPQSRSVMSDQCAGQWFLKACGLGEGDTEVFPTQHVVRALQTIFELNVQAFAGGAMGAVNGMQPHGVPDKSSVQSDEVWVGVVYGLAATMIQEGLTWEGFQTAEGCYRTVWERLGLAFQTPEAYCQQRVFRSLAYMRPLSIWAMQLALQQQQHKKASWPKVKQGTGLRTGPMFGPKEAMANLSPE | |
| Overview of Protein Modification Sites with Functional and Structural Information | ||
|
|
||
* ASA = Accessible Surface Area
| Locations | Modification | Substrate Peptides & Secondary Structure |
ASA (%) | Reference | Orthologous Protein Cluster |
|---|---|---|---|---|---|
| 3 | Phosphorylation | -----MGTQDPGNMG -----CCCCCCCCCC | 28.62 | 24043423 | |
| 11 | Phosphorylation | QDPGNMGTGVPASEQ CCCCCCCCCCCHHHH | 25.00 | 24043423 | |
| 16 | Phosphorylation | MGTGVPASEQISCAK CCCCCCHHHHHCCCC | 24.78 | 24043423 | |
| 20 | Phosphorylation | VPASEQISCAKEDPQ CCHHHHHCCCCCCCC | 14.02 | 24043423 | |
| 43 | Phosphorylation | GTKDVQVTDCKSPED CCCCEEEECCCCCCC | 20.70 | 23312004 | |
| 47 | Phosphorylation | VQVTDCKSPEDSRPP EEEECCCCCCCCCCC | 39.59 | 21712546 | |
| 51 | Phosphorylation | DCKSPEDSRPPKETD CCCCCCCCCCCCCCC | 45.05 | 23312004 | |
| 57 | Phosphorylation | DSRPPKETDCCNPED CCCCCCCCCCCCCCC | 40.23 | 22210691 | |
| 65 | Phosphorylation | DCCNPEDSGQLMVSY CCCCCCCCCCEEEEE | 27.12 | 22210691 | |
| 97 | Ubiquitination | LAHEFTEKRKPFQAN HHHHHHCCCCCCCCC | 63.77 | - | |
| 109 | Phosphorylation | QANNVSLSNMIKHIG CCCCCCHHHHHHHHH | 19.49 | 25690035 | |
| 134 | Ubiquitination | RKTHVEKKTPFIDMI HHHCCCCCCCCHHCC | 48.18 | - | |
| 135 | Phosphorylation | KTHVEKKTPFIDMIN HHCCCCCCCCHHCCC | 34.20 | - | |
| 161 | Phosphorylation | LGGIGGGTITRGWRG CCCCCCCCCCCCCCC | 23.58 | - | |
| 163 | Phosphorylation | GIGGGTITRGWRGQF CCCCCCCCCCCCCCE | 23.98 | - | |
| 212 | Phosphorylation | VLSLERPSVLRSWNW HHCCCCCHHHHHCCC | 39.75 | - | |
| 216 | Phosphorylation | ERPSVLRSWNWGLCG CCCHHHHHCCCCHHH | 22.17 | 26657352 | |
| 228 | Phosphorylation | LCGYFAFYHALYPRA HHHHHHHHHHHHCCE | 5.24 | 26657352 | |
| 232 | Phosphorylation | FAFYHALYPRAWTVY HHHHHHHHCCEEEEE | 7.46 | 26657352 | |
| 409 | Phosphorylation | GQCRLEFSLAWDMPR CCEEEEEEEEECCCE | 14.06 | - | |
| 576 | Phosphorylation | EDLTRRRYLMSGVMA HHHHHHHHHHHCCCC | 12.63 | 22210691 | |
| 579 | Phosphorylation | TRRRYLMSGVMAPVK HHHHHHHHCCCCCCC | 26.16 | 22210691 | |
| 586 | Ubiquitination | SGVMAPVKRRNVIPH HCCCCCCCCCCCCCC | 44.58 | - | |
| 717 | Phosphorylation | DIQDKFSSILSRGQE HHHHHHHHHHHHHHH | 30.59 | 24719451 | |
| 720 | Phosphorylation | DKFSSILSRGQEAYE HHHHHHHHHHHHHHH | 32.47 | 24719451 | |
| 761 | Ubiquitination | CAGQWFLKACGLGEG HHHHHHHHHCCCCCC | 31.96 | - | |
| 877 | Phosphorylation | RVFRSLAYMRPLSIW HHHHHHHHHHHHHHH | 10.03 | 28064214 | |
| 904 | Methylation | KASWPKVKQGTGLRT HCCCCCCCCCCCCCC | 49.49 | - | |
| 925 | Phosphorylation | KEAMANLSPE----- HHHHHCCCCC----- | 27.13 | 23090842 |
| Modified Location | Modified Residue | Modification | Type of Upstream Proteins | Gene Name of Upstream Proteins | UniProt AC of Upstream Proteins | Sources |
|---|---|---|---|---|---|---|
Oops, there are no upstream regulatory protein records of GBA2_HUMAN !! | ||||||
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of GBA2_HUMAN !! | ||||||
* Distance = the distance between SAP position and PTM sites.
| Modified Location | Modification | Variant Position (Distance <= 10) |
Residue Change | SAP | Related Disease | Reference |
|---|---|---|---|---|---|---|
Oops, there are no SNP-PTM records of GBA2_HUMAN !! | ||||||
| Interacting Protein | Gene Name | Interaction Type | PPI Reference | Domain-Domain Interactions |
|---|---|---|---|---|
| A4_HUMAN | APP | physical | 21832049 | |
| SRP68_HUMAN | SRP68 | physical | 26496610 | |
| LIPA1_HUMAN | PPFIA1 | physical | 26496610 | |
| BAG5_HUMAN | BAG5 | physical | 26496610 | |
| LTOR5_HUMAN | LAMTOR5 | physical | 26496610 | |
| AFG32_HUMAN | AFG3L2 | physical | 26496610 | |
| ILVBL_HUMAN | ILVBL | physical | 26496610 | |
| RT22_HUMAN | MRPS22 | physical | 26496610 | |
| RM44_HUMAN | MRPL44 | physical | 26496610 |
| Kegg Drug | ||||||
|---|---|---|---|---|---|---|
| DrugBank | ||||||
| There are no disease associations of PTM sites. | ||||||
loading...
