UniProtKB - Q9HCG7 (GBA2_HUMAN)
Non-lysosomal glucosylceramidase
GBA2
Functioni
Non-lysosomal glucosylceramidase that catalyzes the hydrolysis of glucosylceramides/GlcCers (such as beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine) to free glucose and ceramides (such as N-acylsphing-4-enine) (PubMed:17105727, PubMed:30308956, PubMed:32144204).
GlcCers are membrane glycosphingolipids that have a wide intracellular distribution (By similarity).
They are the main precursors of more complex glycosphingolipids that play a role in cellular growth, differentiation, adhesion, signaling, cytoskeletal dynamics and membrane properties (By similarity).
Involved in the transglucosylation of cholesterol, transfers glucose from GlcCer to cholesterol, thereby modifying its water solubility and biological properties (PubMed:32144204).
Under specific conditions, may catalyze the reverse reaction, transferring glucose from cholesteryl-3-beta-D-glucoside to ceramide (such as N-acylsphing-4-enine) (Probable). May play a role in the metabolism of bile acids (PubMed:11489889, PubMed:9111029, PubMed:17080196).
Able to hydrolyze bile acid 3-O-glucosides as well as to produce bile acid-glucose conjugates thanks to a bile acid glucosyl transferase activity (PubMed:11489889, PubMed:9111029, PubMed:17080196).
Catalyzes the hydrolysis of galactosylceramides/GalCers (such as beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine), as well as the galactosyl transfer between GalCers and cholesterol in vitro with lower activity compared with their activity against GlcCers (PubMed:32144204).
By similarity1 Publication6 PublicationsCatalytic activityi
- EC:3.2.1.451 PublicationThis reaction proceeds in the forward1 Publication direction.
- a β-D-galactosyl-(1↔1ʼ)-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + D-galactose1 PublicationEC:3.2.1.461 PublicationThis reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward3 Publications direction.
- This reaction proceeds in the forward1 Publication direction.
- chenodeoxycholate + dolichyl β-D-glucosyl phosphate = β-D-glucosyl-(1→3)-O-chenodeoxycholate + dolichyl phosphate + H+1 PublicationThis reaction proceeds in the forward1 Publication direction.
- chenodeoxycholate + octyl β-D-glucose = β-D-glucosyl-(1→3)-O-chenodeoxycholate + octan-1-ol1 PublicationThis reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
Activity regulationi
Kineticsi
- KM=1.7 µM for beta-D-glucosyl-(1->3)-O-lithocholate1 Publication
- KM=6.2 µM for beta-D-glucosyl-(1->3)-O-chenodeoxycholate1 Publication
- KM=210 µM for 4-methylumbelliferyl beta-D-glucoside1 Publication
pH dependencei
: sphingolipid metabolism Pathwayi
This protein is involved in the pathway sphingolipid metabolism, which is part of Lipid metabolism.1 Publication2 PublicationsView all proteins of this organism that are known to be involved in the pathway sphingolipid metabolism and in Lipid metabolism.
Pathwayi: cholesterol metabolism
This protein is involved in the pathway cholesterol metabolism, which is part of Steroid metabolism.1 PublicationView all proteins of this organism that are known to be involved in the pathway cholesterol metabolism and in Steroid metabolism.
GO - Molecular functioni
- beta-glucosidase activity Source: UniProtKB
- glucosylceramidase activity Source: UniProtKB
- glucosyltransferase activity Source: UniProtKB
- steryl-beta-glucosidase activity Source: UniProtKB
GO - Biological processi
- bile acid metabolic process Source: UniProtKB
- carbohydrate metabolic process Source: InterPro
- central nervous system development Source: GO_Central
- central nervous system neuron development Source: UniProtKB
- cholesterol metabolic process Source: UniProtKB
- glucosylceramide catabolic process Source: UniProtKB
- glycoside catabolic process Source: UniProtKB
- glycosphingolipid metabolic process Source: Reactome
- lipid glycosylation Source: UniProtKB
- regulation of actin filament polymerization Source: UniProtKB
- regulation of membrane lipid distribution Source: UniProtKB
- regulation of microtubule polymerization Source: UniProtKB
Keywordsi
Molecular function | Glycosidase, Glycosyltransferase, Hydrolase, Transferase |
Biological process | Cholesterol metabolism, Lipid metabolism, Sphingolipid metabolism, Steroid metabolism, Sterol metabolism |
Enzyme and pathway databases
BRENDAi | 3.2.1.45, 2681 |
PathwayCommonsi | Q9HCG7 |
Reactomei | R-HSA-1660662, Glycosphingolipid metabolism |
SABIO-RKi | Q9HCG7 |
SignaLinki | Q9HCG7 |
UniPathwayi | UPA00222 UPA00296 |
Protein family/group databases
CAZyi | GH116, Glycoside Hydrolase Family 116 |
Chemistry databases
SwissLipidsi | SLP:000001382 SLP:000001932 [Q9HCG7-1] |
Names & Taxonomyi
Protein namesi | Recommended name: Non-lysosomal glucosylceramidaseCurated (EC:3.2.1.452 Publications)Short name: NLGase1 Publication Alternative name(s): Beta-glucocerebrosidase 2 Short name: Beta-glucosidase 2 Bile acid beta-glucosidase GBA21 Publication Bile acid glucosyl transferase GBA21 Publication Cholesterol glucosyltransferase GBA2By similarity (EC:2.4.1.-By similarity) Cholesteryl-beta-glucosidase GBA2By similarity (EC:3.2.1.-By similarity) Glucosylceramidase 2 Non-lysosomal cholesterol glycosyltransferaseCurated Non-lysosomal galactosylceramidaseCurated (EC:3.2.1.461 Publication) Non-lysosomal glycosylceramidaseCurated |
Gene namesi | ORF Names:AD035 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:18986, GBA2 |
MIMi | 609471, gene |
neXtProti | NX_Q9HCG7 |
VEuPathDBi | HostDB:ENSG00000070610 |
Subcellular locationi
Golgi apparatus
- Golgi apparatus membrane By similarity; Peripheral membrane protein 1 Publication; Cytoplasmic side By similarity
Endoplasmic reticulum
- Endoplasmic reticulum membrane By similarity; Peripheral membrane protein 1 Publication; Cytoplasmic side By similarity
Note: Localization to the plasma membrane and alternative topologies have also been reported.2 Publications
Cytosol
- cytosol Source: UniProtKB
Endoplasmic reticulum
- extrinsic component of endoplasmic reticulum membrane Source: UniProtKB
- smooth endoplasmic reticulum Source: UniProtKB
Golgi apparatus
- extrinsic component of Golgi membrane Source: UniProtKB
Plasma Membrane
- plasma membrane Source: Reactome
Other locations
- extrinsic component of membrane Source: UniProtKB
- integral component of membrane Source: UniProtKB
Keywords - Cellular componenti
Endoplasmic reticulum, Golgi apparatus, MembranePathology & Biotechi
Involvement in diseasei
Spastic paraplegia 46, autosomal recessive (SPG46)5 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081406 | 121 – 927 | Missing in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationAdd BLAST | 807 | |
Natural variantiVAR_081407 | 173 – 927 | Missing in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationAdd BLAST | 755 | |
Natural variantiVAR_081408 | 234 – 927 | Missing in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationAdd BLAST | 694 | |
Natural variantiVAR_081409 | 340 – 927 | Missing in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationAdd BLAST | 588 | |
Natural variantiVAR_081410 | 594 | D → H in SPG46; loss of glucosylceramide catabolic process. 1 PublicationCorresponds to variant dbSNP:rs398123064EnsemblClinVar. | 1 | |
Natural variantiVAR_069634 | 630 | R → W in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationCorresponds to variant dbSNP:rs398123012EnsemblClinVar. | 1 | |
Natural variantiVAR_069635 | 873 | R → H in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationCorresponds to variant dbSNP:rs398123015EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 419 | F → V: Loss of glucosylceramide catabolic process. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Hereditary spastic paraplegia, NeurodegenerationOrganism-specific databases
DisGeNETi | 57704 |
MalaCardsi | GBA2 |
MIMi | 614409, phenotype |
OpenTargetsi | ENSG00000070610 |
Orphaneti | 352641, Autosomal recessive cerebellar ataxia with late-onset spasticity 320391, Autosomal recessive spastic paraplegia type 46 |
PharmGKBi | PA38773 |
Miscellaneous databases
Pharosi | Q9HCG7, Tchem |
Chemistry databases
ChEMBLi | CHEMBL3761 |
DrugCentrali | Q9HCG7 |
Genetic variation databases
BioMutai | GBA2 |
DMDMi | 143018392 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000283758 | 1 – 927 | Non-lysosomal glucosylceramidaseAdd BLAST | 927 |
Proteomic databases
EPDi | Q9HCG7 |
jPOSTi | Q9HCG7 |
MassIVEi | Q9HCG7 |
MaxQBi | Q9HCG7 |
PaxDbi | Q9HCG7 |
PeptideAtlasi | Q9HCG7 |
PRIDEi | Q9HCG7 |
ProteomicsDBi | 81709 [Q9HCG7-1] 81710 [Q9HCG7-2] 81711 [Q9HCG7-3] |
PTM databases
iPTMneti | Q9HCG7 |
PhosphoSitePlusi | Q9HCG7 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000070610, Expressed in left lobe of thyroid gland and 204 other tissues |
ExpressionAtlasi | Q9HCG7, baseline and differential |
Genevisiblei | Q9HCG7, HS |
Organism-specific databases
HPAi | ENSG00000070610, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 121728, 29 interactors |
IntActi | Q9HCG7, 12 interactors |
STRINGi | 9606.ENSP00000367343 |
Chemistry databases
BindingDBi | Q9HCG7 |
Miscellaneous databases
RNActi | Q9HCG7, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 32 – 62 | DisorderedSequence analysisAdd BLAST | 31 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 43 – 59 | Basic and acidic residuesSequence analysisAdd BLAST | 17 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG2119, Eukaryota |
GeneTreei | ENSGT00390000010998 |
HOGENOMi | CLU_006322_1_1_1 |
InParanoidi | Q9HCG7 |
OMAi | HDLGAPN |
OrthoDBi | 207392at2759 |
PhylomeDBi | Q9HCG7 |
TreeFami | TF313888 |
Family and domain databases
Gene3Di | 1.50.10.10, 1 hit |
InterProi | View protein in InterPro IPR008928, 6-hairpin_glycosidase_sf IPR012341, 6hp_glycosidase-like_sf IPR014551, B_Glucosidase_GBA2-typ IPR006775, GH116_catalytic IPR024462, GH116_N |
Pfami | View protein in Pfam PF04685, DUF608, 1 hit PF12215, Glyco_hydr_116N, 1 hit |
PIRSFi | PIRSF028944, Beta_gluc_GBA2, 1 hit |
SUPFAMi | SSF48208, SSF48208, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MGTQDPGNMG TGVPASEQIS CAKEDPQVYC PEETGGTKDV QVTDCKSPED
60 70 80 90 100
SRPPKETDCC NPEDSGQLMV SYEGKAMGYQ VPPFGWRICL AHEFTEKRKP
110 120 130 140 150
FQANNVSLSN MIKHIGMGLR YLQWWYRKTH VEKKTPFIDM INSVPLRQIY
160 170 180 190 200
GCPLGGIGGG TITRGWRGQF CRWQLNPGMY QHRTVIADQF TVCLRREGQT
210 220 230 240 250
VYQQVLSLER PSVLRSWNWG LCGYFAFYHA LYPRAWTVYQ LPGQNVTLTC
260 270 280 290 300
RQITPILPHD YQDSSLPVGV FVWDVENEGD EALDVSIMFS MRNGLGGGDD
310 320 330 340 350
APGGLWNEPF CLERSGETVR GLLLHHPTLP NPYTMAVAAR VTAATTVTHI
360 370 380 390 400
TAFDPDSTGQ QVWQDLLQDG QLDSPTGQST PTQKGVGIAG AVCVSSKLRP
410 420 430 440 450
RGQCRLEFSL AWDMPRIMFG AKGQVHYRRY TRFFGQDGDA APALSHYALC
460 470 480 490 500
RYAEWEERIS AWQSPVLDDR SLPAWYKSAL FNELYFLADG GTVWLEVLED
510 520 530 540 550
SLPEELGRNM CHLRPTLRDY GRFGYLEGQE YRMYNTYDVH FYASFALIML
560 570 580 590 600
WPKLELSLQY DMALATLRED LTRRRYLMSG VMAPVKRRNV IPHDIGDPDD
610 620 630 640 650
EPWLRVNAYL IHDTADWKDL NLKFVLQVYR DYYLTGDQNF LKDMWPVCLA
660 670 680 690 700
VMESEMKFDK DHDGLIENGG YADQTYDGWV TTGPSAYCGG LWLAAVAVMV
710 720 730 740 750
QMAALCGAQD IQDKFSSILS RGQEAYERLL WNGRYYNYDS SSRPQSRSVM
760 770 780 790 800
SDQCAGQWFL KACGLGEGDT EVFPTQHVVR ALQTIFELNV QAFAGGAMGA
810 820 830 840 850
VNGMQPHGVP DKSSVQSDEV WVGVVYGLAA TMIQEGLTWE GFQTAEGCYR
860 870 880 890 900
TVWERLGLAF QTPEAYCQQR VFRSLAYMRP LSIWAMQLAL QQQQHKKASW
910 920
PKVKQGTGLR TGPMFGPKEA MANLSPE
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A0A0MRV1 | A0A0A0MRV1_HUMAN | Non-lysosomal glucosylceramidase | GBA2 | 172 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 60 | C → Y in BAB55430 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 222 | C → R in BAB55430 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 482 | N → K in BAB55430 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081406 | 121 – 927 | Missing in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationAdd BLAST | 807 | |
Natural variantiVAR_081407 | 173 – 927 | Missing in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationAdd BLAST | 755 | |
Natural variantiVAR_081408 | 234 – 927 | Missing in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationAdd BLAST | 694 | |
Natural variantiVAR_081409 | 340 – 927 | Missing in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationAdd BLAST | 588 | |
Natural variantiVAR_081410 | 594 | D → H in SPG46; loss of glucosylceramide catabolic process. 1 PublicationCorresponds to variant dbSNP:rs398123064EnsemblClinVar. | 1 | |
Natural variantiVAR_069634 | 630 | R → W in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationCorresponds to variant dbSNP:rs398123012EnsemblClinVar. | 1 | |
Natural variantiVAR_069635 | 873 | R → H in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationCorresponds to variant dbSNP:rs398123015EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_024383 | 1 – 287 | Missing in isoform 3. 1 PublicationAdd BLAST | 287 | |
Alternative sequenceiVSP_024384 | 836 – 927 | GLTWE…NLSPE → LLPSGFCLWVIVISSTCWEL LEGKDSTASIYPVEVALQRV PS in isoform 2. 1 PublicationAdd BLAST | 92 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ309567 mRNA Translation: CAC83792.1 AB046825 mRNA Translation: BAB13431.1 Different initiation. AK027884 mRNA Translation: BAB55430.1 AL834306 mRNA Translation: CAD38976.1 AL133410 Genomic DNA No translation available. CH471071 Genomic DNA Translation: EAW58348.1 CH471071 Genomic DNA Translation: EAW58349.1 BC011363 mRNA Translation: AAH11363.1 AF258662 mRNA Translation: AAG44660.1 Frameshift. |
CCDSi | CCDS6589.1 [Q9HCG7-1] CCDS83363.1 [Q9HCG7-2] |
RefSeqi | NP_001317589.1, NM_001330660.1 [Q9HCG7-2] NP_065995.1, NM_020944.2 [Q9HCG7-1] XP_016870435.1, XM_017014946.1 [Q9HCG7-3] |
Genome annotation databases
Ensembli | ENST00000378094.4; ENSP00000367334.4; ENSG00000070610.14 [Q9HCG7-2] ENST00000378103.7; ENSP00000367343.3; ENSG00000070610.14 |
GeneIDi | 57704 |
KEGGi | hsa:57704 |
MANE-Selecti | ENST00000378103.7; ENSP00000367343.3; NM_020944.3; NP_065995.1 |
UCSCi | uc003zxw.3, human [Q9HCG7-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ309567 mRNA Translation: CAC83792.1 AB046825 mRNA Translation: BAB13431.1 Different initiation. AK027884 mRNA Translation: BAB55430.1 AL834306 mRNA Translation: CAD38976.1 AL133410 Genomic DNA No translation available. CH471071 Genomic DNA Translation: EAW58348.1 CH471071 Genomic DNA Translation: EAW58349.1 BC011363 mRNA Translation: AAH11363.1 AF258662 mRNA Translation: AAG44660.1 Frameshift. |
CCDSi | CCDS6589.1 [Q9HCG7-1] CCDS83363.1 [Q9HCG7-2] |
RefSeqi | NP_001317589.1, NM_001330660.1 [Q9HCG7-2] NP_065995.1, NM_020944.2 [Q9HCG7-1] XP_016870435.1, XM_017014946.1 [Q9HCG7-3] |
3D structure databases
AlphaFoldDBi | Q9HCG7 |
SMRi | Q9HCG7 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 121728, 29 interactors |
IntActi | Q9HCG7, 12 interactors |
STRINGi | 9606.ENSP00000367343 |
Chemistry databases
BindingDBi | Q9HCG7 |
ChEMBLi | CHEMBL3761 |
DrugCentrali | Q9HCG7 |
SwissLipidsi | SLP:000001382 SLP:000001932 [Q9HCG7-1] |
Protein family/group databases
CAZyi | GH116, Glycoside Hydrolase Family 116 |
PTM databases
iPTMneti | Q9HCG7 |
PhosphoSitePlusi | Q9HCG7 |
Genetic variation databases
BioMutai | GBA2 |
DMDMi | 143018392 |
Proteomic databases
EPDi | Q9HCG7 |
jPOSTi | Q9HCG7 |
MassIVEi | Q9HCG7 |
MaxQBi | Q9HCG7 |
PaxDbi | Q9HCG7 |
PeptideAtlasi | Q9HCG7 |
PRIDEi | Q9HCG7 |
ProteomicsDBi | 81709 [Q9HCG7-1] 81710 [Q9HCG7-2] 81711 [Q9HCG7-3] |
Protocols and materials databases
Antibodypediai | 11711, 111 antibodies from 18 providers |
DNASUi | 57704 |
Genome annotation databases
Ensembli | ENST00000378094.4; ENSP00000367334.4; ENSG00000070610.14 [Q9HCG7-2] ENST00000378103.7; ENSP00000367343.3; ENSG00000070610.14 |
GeneIDi | 57704 |
KEGGi | hsa:57704 |
MANE-Selecti | ENST00000378103.7; ENSP00000367343.3; NM_020944.3; NP_065995.1 |
UCSCi | uc003zxw.3, human [Q9HCG7-1] |
Organism-specific databases
CTDi | 57704 |
DisGeNETi | 57704 |
GeneCardsi | GBA2 |
HGNCi | HGNC:18986, GBA2 |
HPAi | ENSG00000070610, Low tissue specificity |
MalaCardsi | GBA2 |
MIMi | 609471, gene 614409, phenotype |
neXtProti | NX_Q9HCG7 |
OpenTargetsi | ENSG00000070610 |
Orphaneti | 352641, Autosomal recessive cerebellar ataxia with late-onset spasticity 320391, Autosomal recessive spastic paraplegia type 46 |
PharmGKBi | PA38773 |
VEuPathDBi | HostDB:ENSG00000070610 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2119, Eukaryota |
GeneTreei | ENSGT00390000010998 |
HOGENOMi | CLU_006322_1_1_1 |
InParanoidi | Q9HCG7 |
OMAi | HDLGAPN |
OrthoDBi | 207392at2759 |
PhylomeDBi | Q9HCG7 |
TreeFami | TF313888 |
Enzyme and pathway databases
UniPathwayi | UPA00222 UPA00296 |
BRENDAi | 3.2.1.45, 2681 |
PathwayCommonsi | Q9HCG7 |
Reactomei | R-HSA-1660662, Glycosphingolipid metabolism |
SABIO-RKi | Q9HCG7 |
SignaLinki | Q9HCG7 |
Miscellaneous databases
BioGRID-ORCSi | 57704, 10 hits in 1078 CRISPR screens |
ChiTaRSi | GBA2, human |
GeneWikii | GBA2 |
GenomeRNAii | 57704 |
Pharosi | Q9HCG7, Tchem |
PROi | PR:Q9HCG7 |
RNActi | Q9HCG7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000070610, Expressed in left lobe of thyroid gland and 204 other tissues |
ExpressionAtlasi | Q9HCG7, baseline and differential |
Genevisiblei | Q9HCG7, HS |
Family and domain databases
Gene3Di | 1.50.10.10, 1 hit |
InterProi | View protein in InterPro IPR008928, 6-hairpin_glycosidase_sf IPR012341, 6hp_glycosidase-like_sf IPR014551, B_Glucosidase_GBA2-typ IPR006775, GH116_catalytic IPR024462, GH116_N |
Pfami | View protein in Pfam PF04685, DUF608, 1 hit PF12215, Glyco_hydr_116N, 1 hit |
PIRSFi | PIRSF028944, Beta_gluc_GBA2, 1 hit |
SUPFAMi | SSF48208, SSF48208, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | GBA2_HUMAN | |
Accessioni | Q9HCG7Primary (citable) accession number: Q9HCG7 Secondary accession number(s): D3DRP2 Q9H2L8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 3, 2007 |
Last sequence update: | April 3, 2007 | |
Last modified: | May 25, 2022 | |
This is version 152 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Direct protein sequencing, Reference proteomeDocuments
- Glycosyl hydrolases
Classification of glycosyl hydrolase families and list of entries - Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families