KEGG   Homo sapiens (human): 2629
Entry
2629              CDS       T01001                                 

Gene name
GBA, GBA1, GCB, GLUC
Definition
(RefSeq) glucosylceramidase beta
  KO
K01201  glucosylceramidase [EC:3.2.1.45]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00511  Other glycan degradation
hsa00600  Sphingolipid metabolism
hsa01100  Metabolic pathways
hsa04142  Lysosome
Network
nt06014  Sphingolipid degradation
  Element
N00640  Hydrolysis of lactosylceramide
N00641  GBA deficiency in lactosylceramide hydrolysis
N00642  Saposin stimulation of GBA and GALC
N00643  Loss of saposin stimulation
N00679  Glucosylceramide synthesis in GBA deficiency
N10017  Replacement of deficient GBA
N10018  UGCG inhibitor for deficient GBA
Disease
H00066  Lewy body dementia (LBD)
H00126  Gaucher disease
H00423  Sphingolipidosis
Drug target
Alglucerase: D02810
Imiglucerase: D03020<JP/US>
Taliglucerase alfa: D09675<US>
Velaglucerase alfa: D09029<JP/US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00600 Sphingolipid metabolism
    2629 (GBA)
  09107 Glycan biosynthesis and metabolism
   00511 Other glycan degradation
    2629 (GBA)
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    2629 (GBA)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.2  Glycosylases
   3.2.1  Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds
    3.2.1.45  glucosylceramidase
     2629 (GBA)
Motif
Pfam: Glyco_hydro_30 Glyco_hydro_30C Glyco_hydro_59
Other DBs
NCBI-GeneID: 2629
NCBI-ProteinID: NP_000148
OMIM: 606463
HGNC: 4177
Ensembl: ENSG00000177628
Vega: OTTHUMG00000035841
Pharos: P04062(Tchem)
UniProt: P04062 A0A068F658
Structure
PDB: 

Position
1q22
AA seq 536 aa
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNAT
YCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGF
GGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDD
FQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQP
GDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIA
RDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAK
ATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDW
NLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQK
NDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ
NT seq 1611 nt   +upstreamnt  +downstreamnt
atggagttttcaagtccttccagagaggaatgtcccaagcctttgagtagggtaagcatc
atggctggcagcctcacaggattgcttctacttcaggcagtgtcgtgggcatcaggtgcc
cgcccctgcatccctaaaagcttcggctacagctcggtggtgtgtgtctgcaatgccaca
tactgtgactcctttgaccccccgacctttcctgcccttggtaccttcagccgctatgag
agtacacgcagtgggcgacggatggagctgagtatggggcccatccaggctaatcacacg
ggcacaggcctgctactgaccctgcagccagaacagaagttccagaaagtgaagggattt
ggaggggccatgacagatgctgctgctctcaacatccttgccctgtcaccccctgcccaa
aatttgctacttaaatcgtacttctctgaagaaggaatcggatataacatcatccgggta
cccatggccagctgtgacttctccatccgcacctacacctatgcagacacccctgatgat
ttccagttgcacaacttcagcctcccagaggaagataccaagctcaagatacccctgatt
caccgagccctgcagttggcccagcgtcccgtttcactccttgccagcccctggacatca
cccacttggctcaagaccaatggagcggtgaatgggaaggggtcactcaagggacagccc
ggagacatctaccaccagacctgggccagatactttgtgaagttcctggatgcctatgct
gagcacaagttacagttctgggcagtgacagctgaaaatgagccttctgctgggctgttg
agtggataccccttccagtgcctgggcttcacccctgaacatcagcgagacttcattgcc
cgtgacctaggtcctaccctcgccaacagtactcaccacaatgtccgcctactcatgctg
gatgaccaacgcttgctgctgccccactgggcaaaggtggtactgacagacccagaagca
gctaaatatgttcatggcattgctgtacattggtacctggactttctggctccagccaaa
gccaccctaggggagacacaccgcctgttccccaacaccatgctctttgcctcagaggcc
tgtgtgggctccaagttctgggagcagagtgtgcggctaggctcctgggatcgagggatg
cagtacagccacagcatcatcacgaacctcctgtaccatgtggtcggctggaccgactgg
aaccttgccctgaaccccgaaggaggacccaattgggtgcgtaactttgtcgacagtccc
atcattgtagacatcaccaaggacacgttttacaaacagcccatgttctaccaccttggc
cacttcagcaagttcattcctgagggctcccagagagtggggctggttgccagtcagaag
aacgacctggacgcagtggcactgatgcatcccgatggctctgctgttgtggtcgtgcta
aaccgctcctctaaggatgtgcctcttaccatcaaggatcctgctgtgggcttcctggag
acaatctcacctggctactccattcacacctacctgtggcgtcgccagtga

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (4)   
   KEGG PATHWAY (4)   
Network (7)   
   KEGG NETWORK (7)   
Disease (11)   
   KEGG DISEASE (3)   
   OMIM (8)   
Drug (4)   
   KEGG DRUG (4)   
Chemical substance (4)   
   KEGG COMPOUND (4)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (32)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
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   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (19)   
   OC (1)   
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   VEGA (1)   
Protein sequence (8)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (63)   
   RefSeq(nuc) (7)   
   GenBank (28)   
   EMBL (28)   
Protein domain (3)   
   Pfam (3)   
All databases (141)   

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