Gene/Proteome Database (LMPD)
LMPD ID
LMP006630
Gene ID
Species
Homo sapiens (Human)
Gene Name
glucosidase, beta (bile acid) 2
Gene Symbol
Synonyms
NLGase; SPG46
Alternate Names
non-lysosomal glucosylceramidase; glucosylceramidase 2; beta-glucocerebrosidase 2
Chromosome
9
Map Location
9p13.3
EC Number
3.2.1.45
Summary
This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008]
Orthologs
Proteins
| non-lysosomal glucosylceramidase | |
|---|---|
| Refseq ID | NP_065995 |
| Protein GI | 24308251 |
| UniProt ID | Q9HCG7 |
| mRNA ID | NM_020944 |
| Length | 927 |
| RefSeq Status | REVIEWED |
| MGTQDPGNMGTGVPASEQISCAKEDPQVYCPEETGGTKDVQVTDCKSPEDSRPPKETDCCNPEDSGQLMVSYEGKAMGYQVPPFGWRICLAHEFTEKRKPFQANNVSLSNMIKHIGMGLRYLQWWYRKTHVEKKTPFIDMINSVPLRQIYGCPLGGIGGGTITRGWRGQFCRWQLNPGMYQHRTVIADQFTVCLRREGQTVYQQVLSLERPSVLRSWNWGLCGYFAFYHALYPRAWTVYQLPGQNVTLTCRQITPILPHDYQDSSLPVGVFVWDVENEGDEALDVSIMFSMRNGLGGGDDAPGGLWNEPFCLERSGETVRGLLLHHPTLPNPYTMAVAARVTAATTVTHITAFDPDSTGQQVWQDLLQDGQLDSPTGQSTPTQKGVGIAGAVCVSSKLRPRGQCRLEFSLAWDMPRIMFGAKGQVHYRRYTRFFGQDGDAAPALSHYALCRYAEWEERISAWQSPVLDDRSLPAWYKSALFNELYFLADGGTVWLEVLEDSLPEELGRNMCHLRPTLRDYGRFGYLEGQEYRMYNTYDVHFYASFALIMLWPKLELSLQYDMALATLREDLTRRRYLMSGVMAPVKRRNVIPHDIGDPDDEPWLRVNAYLIHDTADWKDLNLKFVLQVYRDYYLTGDQNFLKDMWPVCLAVMESEMKFDKDHDGLIENGGYADQTYDGWVTTGPSAYCGGLWLAAVAVMVQMAALCGAQDIQDKFSSILSRGQEAYERLLWNGRYYNYDSSSRPQSRSVMSDQCAGQWFLKACGLGEGDTEVFPTQHVVRALQTIFELNVQAFAGGAMGAVNGMQPHGVPDKSSVQSDEVWVGVVYGLAATMIQEGLTWEGFQTAEGCYRTVWERLGLAFQTPEAYCQQRVFRSLAYMRPLSIWAMQLALQQQQHKKASWPKVKQGTGLRTGPMFGPKEAMANLSPE | |
Gene Information
Entrez Gene ID
Gene Name
glucosidase, beta (bile acid) 2
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005794 | IEA:UniProtKB-KW | C | Golgi apparatus |
| GO:0016021 | IDA:UniProtKB | C | integral component of membrane |
| GO:0005886 | TAS:Reactome | C | plasma membrane |
| GO:0005790 | TAS:UniProtKB | C | smooth endoplasmic reticulum |
| GO:0008422 | IDA:UniProtKB | F | beta-glucosidase activity |
| GO:0004348 | IEA:UniProtKB-EC | F | glucosylceramidase activity |
| GO:0008206 | IDA:UniProtKB | P | bile acid metabolic process |
| GO:0008219 | IEA:UniProtKB-KW | P | cell death |
| GO:0021954 | IMP:UniProtKB | P | central nervous system neuron development |
| GO:0006680 | IEA:InterPro | P | glucosylceramide catabolic process |
| GO:0016139 | IDA:UniProtKB | P | glycoside catabolic process |
| GO:0006687 | TAS:Reactome | P | glycosphingolipid metabolic process |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
| GO:0006665 | TAS:Reactome | P | sphingolipid metabolic process |
KEGG Pathway Links
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_116105 | Glycosphingolipid metabolism |
| REACT_19323 | Sphingolipid metabolism |
Domain Information
UniProt Annotations
Entry Information
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9HCG7-1; Sequence=Displayed; Name=2; IsoId=Q9HCG7-2; Sequence=VSP_024384; Note=No experimental confirmation available.; Name=3; IsoId=Q9HCG7-3; Sequence=VSP_024383; Note=No experimental confirmation available.; |
| Biophysicochemical Properties | Kinetic parameters: KM=1.7 uM for 3-beta-D-glucosido-lithocholic ; KM=6.2 uM for 3-beta-D-glucosido-chenodeoxycholic ; KM=210 uM for beta-D-glucoside ; |
| Catalytic Activity | D-glucosyl-N-acylsphingosine + H(2)O = D- glucose + N-acylsphingosine. |
| Disease | Spastic paraplegia 46, autosomal recessive (SPG46) [MIM |
| Enzyme Regulation | Enzymatic activity is dependent on membrane association and requires the presence of lipids. |
| Function | 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. |
| Sequence Caution | Sequence=AAG44660.1; Type=Frameshift; Positions=649, 691; Evidence= ; Sequence=BAB13431.1; Type=Erroneous initiation; Evidence= ; |
| Similarity | Belongs to the non-lysosomal glucosylceramidase family. |
| Subcellular Location | Endoplasmic reticulum membrane {ECO |
| Tissue Specificity | Widely expressed. Highly expressed in brain, heart, skeletal muscle, kidney and placenta and expressed at lower level in liver. |
Identical and Related Proteins
Unique RefSeq proteins for LMP006630 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 24308251 | RefSeq | NP_065995 | 927 | non-lysosomal glucosylceramidase |
Identical Sequences to LMP006630 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:24308251 | EMBL | CAD38976.1 | 927 | hypothetical protein [Homo sapiens] |
| GI:24308251 | GenBank | EAW58348.1 | 927 | glucosidase, beta (bile acid) 2, isoform CRA_d [Homo sapiens] |
| GI:24308251 | GenBank | EAW58349.1 | 927 | glucosidase, beta (bile acid) 2, isoform CRA_d [Homo sapiens] |
| GI:24308251 | GenBank | AHD72163.1 | 927 | Sequence 7661 from patent US 8586006 |
| GI:24308251 | GenBank | AIC52031.1 | 927 | GBA2, partial [synthetic construct] |
| GI:24308251 | SwissProt | Q9HCG7.2 | 927 | RecName: Full=Non-lysosomal glucosylceramidase; Short=NLGase; AltName: Full=Beta-glucocerebrosidase 2; Short=Beta-glucosidase 2; AltName: Full=Glucosylceramidase 2 [Homo sapiens] |
Related Sequences to LMP006630 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:24308251 | DBBJ | BAB55430.1 | 927 | unnamed protein product [Homo sapiens] |
| GI:24308251 | DBBJ | BAH12232.1 | 933 | unnamed protein product [Homo sapiens] |
| GI:24308251 | EMBL | CAE91172.1 | 927 | unnamed protein product [Homo sapiens] |
| GI:24308251 | GenBank | JAA11134.1 | 927 | talin 1 [Pan troglodytes] |
| GI:24308251 | RefSeq | XP_520565.1 | 927 | PREDICTED: non-lysosomal glucosylceramidase isoform X4 [Pan troglodytes] |
| GI:24308251 | RefSeq | XP_006716872.1 | 933 | PREDICTED: non-lysosomal glucosylceramidase isoform X5 [Homo sapiens] |