KEGG   Homo sapiens (human): 2629Help
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
Disease
H00066  Lewy body dementia (LBD)
H00126  Gaucher disease
H00423  Sphingolipidosis
Drug target
Alglucerase: D02810
Imiglucerase: D03020
Taliglucerase alfa: D09675
Velaglucerase alfa: D09029
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Glyco_hydro_30 Glyco_hydro_30C
Motif
Other DBs
NCBI-GeneID: 2629
NCBI-ProteinID: NP_000148
OMIM: 606463
HGNC: 4177
Ensembl: ENSG00000177628
Vega: OTTHUMG00000035841
Pharos: P04062(Tchem)
UniProt: P04062 A0A068F658
LinkDB All DBs
Structure
PDB: 

Position
1q22
AA seq 536 aa AA seqDB search
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNAT
YCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGF
GGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDD
FQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQP
GDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIA
RDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAK
ATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDW
NLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQK
NDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ
NT seq 1611 nt NT seq  +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

KEGG   Homo sapiens (human): 57704Help
Entry
57704             CDS       T01001                                 

Gene name
GBA2, AD035, NLGase, SPG46
Definition
(RefSeq) glucosylceramidase beta 2
  KO
K17108  non-lysosomal glucosylceramidase [EC:3.2.1.45]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00511  Other glycan degradation
hsa00600  Sphingolipid metabolism
hsa01100  Metabolic pathways
Network
nt06014  Sphingolipid degradation
  Element
N00640  Hydrolysis of lactosylceramide
N00642  Saposin stimulation of GBA and GALC
N00643  Loss of saposin stimulation
Disease
H00266  Hereditary spastic paraplegia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00600 Sphingolipid metabolism
    57704 (GBA2)
  09107 Glycan biosynthesis and metabolism
   00511 Other glycan degradation
    57704 (GBA2)
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
     57704 (GBA2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: DUF608 Glyco_hydr_116N Bac_rhamnosid6H GDE_C DUF5127
Motif
Other DBs
NCBI-GeneID: 57704
NCBI-ProteinID: NP_065995
OMIM: 609471
HGNC: 18986
Ensembl: ENSG00000070610
Vega: OTTHUMG00000021024
Pharos: Q9HCG7(Tchem)
UniProt: Q9HCG7
LinkDB All DBs
Position
9p13.3
AA seq 927 aa AA seqDB search
MGTQDPGNMGTGVPASEQISCAKEDPQVYCPEETGGTKDVQVTDCKSPEDSRPPKETDCC
NPEDSGQLMVSYEGKAMGYQVPPFGWRICLAHEFTEKRKPFQANNVSLSNMIKHIGMGLR
YLQWWYRKTHVEKKTPFIDMINSVPLRQIYGCPLGGIGGGTITRGWRGQFCRWQLNPGMY
QHRTVIADQFTVCLRREGQTVYQQVLSLERPSVLRSWNWGLCGYFAFYHALYPRAWTVYQ
LPGQNVTLTCRQITPILPHDYQDSSLPVGVFVWDVENEGDEALDVSIMFSMRNGLGGGDD
APGGLWNEPFCLERSGETVRGLLLHHPTLPNPYTMAVAARVTAATTVTHITAFDPDSTGQ
QVWQDLLQDGQLDSPTGQSTPTQKGVGIAGAVCVSSKLRPRGQCRLEFSLAWDMPRIMFG
AKGQVHYRRYTRFFGQDGDAAPALSHYALCRYAEWEERISAWQSPVLDDRSLPAWYKSAL
FNELYFLADGGTVWLEVLEDSLPEELGRNMCHLRPTLRDYGRFGYLEGQEYRMYNTYDVH
FYASFALIMLWPKLELSLQYDMALATLREDLTRRRYLMSGVMAPVKRRNVIPHDIGDPDD
EPWLRVNAYLIHDTADWKDLNLKFVLQVYRDYYLTGDQNFLKDMWPVCLAVMESEMKFDK
DHDGLIENGGYADQTYDGWVTTGPSAYCGGLWLAAVAVMVQMAALCGAQDIQDKFSSILS
RGQEAYERLLWNGRYYNYDSSSRPQSRSVMSDQCAGQWFLKACGLGEGDTEVFPTQHVVR
ALQTIFELNVQAFAGGAMGAVNGMQPHGVPDKSSVQSDEVWVGVVYGLAATMIQEGLTWE
GFQTAEGCYRTVWERLGLAFQTPEAYCQQRVFRSLAYMRPLSIWAMQLALQQQQHKKASW
PKVKQGTGLRTGPMFGPKEAMANLSPE
NT seq 2784 nt NT seq  +upstreamnt  +downstreamnt
atggggacccaggatccagggaacatgggaaccggcgtcccagcctcggagcagataagc
tgtgccaaagaggatccacaagtttattgccctgaagagactggcggcaccaaggatgtg
caggttacagactgtaagagtcccgaagacagccgacccccaaaagagacggactgctgc
aatccggaggactctgggcagctgatggtttcctatgagggtaaagctatgggctaccag
gtgcctccctttggctggcgcatctgtctggctcatgagtttacagagaagaggaaaccc
tttcaagctaacaacgtctccctaagcaacatgataaagcatataggcatgggcttgagg
tacctgcagtggtggtaccggaagacccatgtggaaaagaagacacctttcatcgacatg
atcaattctgtacccctaagacagatttatggttgtcccttgggtggcatcgggggaggc
actattacccgtggctggagaggccagttctgtcgttggcagcttaaccctggaatgtat
cagcaccggacagtcatcgctgaccaattcacagtgtgcctgcgtcgggaagggcagact
gtgtaccagcaagtcctgtccctggagcgcccaagtgtcctccgcagctggaactggggc
ctgtgtgggtactttgctttctaccatgccctctatccccgagcctggactgtctatcag
cttcctggccagaatgtcaccctcacctgccgtcagatcacacccatcttgccccatgac
taccaggacagcagcctgcctgtaggagtctttgtgtgggatgtggaaaatgaaggggac
gaagctctagatgtgtccatcatgttctccatgcggaatggactgggtggtggagacgat
gccccagggggtttgtggaatgagcccttctgtctggagcgtagcggggaaactgtccgg
gggctgctcctgcatcatccaacccttccaaacccctacacgatggctgtggctgcacga
gtcacggcagctaccacggtaacccacatcacagcctttgaccctgacagcacggggcag
caggtgtggcaggatctacttcaggatggacagctggactctcccactggccaaagcacc
cctacgcagaaaggagtaggcattgctggagctgtgtgtgtttccagcaagttgcgacct
cgaggccagtgccgcctggagttttcactggcttgggacatgcccaggatcatgtttgga
gctaaaggccaagtccactacaggcggtatacaaggttctttggccaggatggagatgca
gcacctgccctcagccactatgcactgtgccgatacgcagagtgggaagagaggatctca
gcttggcagagcccggtattggatgacagatcactgcctgcctggtacaaatctgcgctg
ttcaatgaactatacttcctggctgatggaggcacagtgtggctggaagttcttgaggac
tccctaccagaggagctgggcagaaacatgtgtcacctccgccccaccctacgggactac
ggtcgatttggctaccttgagggccaggagtaccgcatgtacaacacatatgatgtccac
ttttatgcttcctttgccctcatcatgctctggcccaaacttgagctcagcctacagtat
gacatggctctggccactctcagggaggacctgacacggcgacggtacctgatgagtggg
gtgatggcacctgtgaaaaggaggaacgtcatcccccatgatattggggacccagatgat
gaaccatggctccgcgtcaatgcatatttaatccatgatactgctgattggaaggacctg
aacctgaagtttgtgctgcaggtttatcgggactattacctcacgggtgatcaaaacttc
ctgaaggacatgtggcctgtgtgtctagctgtgatggaatctgaaatgaagtttgacaag
gaccatgatggactcattgaaaatggaggctatgcagaccagacctatgatggatgggtg
accacaggccccagtgcttactgtggagggctgtggctggcagctgtggctgtgatggtc
cagatggctgctctgtgtggggcacaggacatccaggataagttttcttctatcctcagc
cggggccaagaagcctatgagagactgctgtggaatggccgctattacaactatgacagc
agctctcggcctcagtctcgtagtgttatgtctgaccagtgtgctggacagtggttcctg
aaggcctgtggcctaggagaaggagacactgaggtgtttcctacccaacatgtggtccgt
gctctccaaactatctttgagctgaacgtccaggcctttgcaggaggggccatgggggct
gtgaatgggatgcagccccatggtgtccctgataaatccagtgtgcagtctgatgaagtc
tgggtgggtgtggtctacgggctggcagctaccatgatccaagagggcctgacttgggag
ggcttccagacagctgaaggctgctaccgtaccgtgtgggagcgcctgggtctggccttc
cagaccccagaggcatactgccagcagcgagtgttccgctcactggcctacatgcggcca
ctgagcatatgggccatgcagctagccctgcaacagcagcagcacaaaaaggcctcctgg
ccaaaagtcaaacagggcacaggactaaggacagggcctatgtttggaccaaaggaagcc
atggcaaacctgagcccagagtga

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