KEGG   Homo sapiens (human): 2629
Entry
2629              CDS       T01001                                 
Symbol
GBA1, GBA, GCB, GLUC
Name
(RefSeq) glucosylceramidase beta 1
  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
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 (GBA1)
  09107 Glycan biosynthesis and metabolism
   00511 Other glycan degradation
    2629 (GBA1)
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    2629 (GBA1)
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 (GBA1)
SSDB
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
Pharos: P04062(Tchem)
UniProt: P04062 A0A068F658
Structure
LinkDB
Position
1:complement(155234452..155244627)
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

KEGG   Homo sapiens (human): 57704
Entry
57704             CDS       T01001                                 
Symbol
GBA2, AD035, NLGase, SPG46
Name
(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)
SSDB
Motif
Pfam: DUF608 Glyco_hydr_116N Bac_rhamnosid6H DUF5127
Other DBs
NCBI-GeneID: 57704
NCBI-ProteinID: NP_065995
OMIM: 609471
HGNC: 18986
Ensembl: ENSG00000070610
Pharos: Q9HCG7(Tchem)
UniProt: Q9HCG7
LinkDB
Position
9:complement(35736866..35749228)
AA seq 927 aa
MGTQDPGNMGTGVPASEQISCAKEDPQVYCPEETGGTKDVQVTDCKSPEDSRPPKETDCC
NPEDSGQLMVSYEGKAMGYQVPPFGWRICLAHEFTEKRKPFQANNVSLSNMIKHIGMGLR
YLQWWYRKTHVEKKTPFIDMINSVPLRQIYGCPLGGIGGGTITRGWRGQFCRWQLNPGMY
QHRTVIADQFTVCLRREGQTVYQQVLSLERPSVLRSWNWGLCGYFAFYHALYPRAWTVYQ
LPGQNVTLTCRQITPILPHDYQDSSLPVGVFVWDVENEGDEALDVSIMFSMRNGLGGGDD
APGGLWNEPFCLERSGETVRGLLLHHPTLPNPYTMAVAARVTAATTVTHITAFDPDSTGQ
QVWQDLLQDGQLDSPTGQSTPTQKGVGIAGAVCVSSKLRPRGQCRLEFSLAWDMPRIMFG
AKGQVHYRRYTRFFGQDGDAAPALSHYALCRYAEWEERISAWQSPVLDDRSLPAWYKSAL
FNELYFLADGGTVWLEVLEDSLPEELGRNMCHLRPTLRDYGRFGYLEGQEYRMYNTYDVH
FYASFALIMLWPKLELSLQYDMALATLREDLTRRRYLMSGVMAPVKRRNVIPHDIGDPDD
EPWLRVNAYLIHDTADWKDLNLKFVLQVYRDYYLTGDQNFLKDMWPVCLAVMESEMKFDK
DHDGLIENGGYADQTYDGWVTTGPSAYCGGLWLAAVAVMVQMAALCGAQDIQDKFSSILS
RGQEAYERLLWNGRYYNYDSSSRPQSRSVMSDQCAGQWFLKACGLGEGDTEVFPTQHVVR
ALQTIFELNVQAFAGGAMGAVNGMQPHGVPDKSSVQSDEVWVGVVYGLAATMIQEGLTWE
GFQTAEGCYRTVWERLGLAFQTPEAYCQQRVFRSLAYMRPLSIWAMQLALQQQQHKKASW
PKVKQGTGLRTGPMFGPKEAMANLSPE
NT seq 2784 nt   +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

KEGG   Homo sapiens (human): 2581
Entry
2581              CDS       T01001                                 
Symbol
GALC
Name
(RefSeq) galactosylceramidase
  KO
K01202  galactosylceramidase [EC:3.2.1.46]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00600  Sphingolipid metabolism
hsa01100  Metabolic pathways
hsa04142  Lysosome
Network
nt06014  Sphingolipid degradation
  Element
N00642  Saposin stimulation of GBA and GALC
N00643  Loss of saposin stimulation
N00644  Hydrolysis of galabiosylceramide
Disease
H00135  Krabbe disease
H00423  Sphingolipidosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00600 Sphingolipid metabolism
    2581 (GALC)
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    2581 (GALC)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.2  Glycosylases
   3.2.1  Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds
    3.2.1.46  galactosylceramidase
     2581 (GALC)
SSDB
Motif
Pfam: Glyco_hydro_59 Glyco_hydro_59M Glyco_hydro_30
Other DBs
NCBI-GeneID: 2581
NCBI-ProteinID: NP_000144
OMIM: 606890
HGNC: 4115
Ensembl: ENSG00000054983
Pharos: P54803(Tbio)
UniProt: P54803 A0A0A0MQV0
LinkDB
Position
14:complement(87933014..87993665)
AA seq 685 aa
MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGAYVLDDSDGLGREFDGIGA
VSGGGATSRLLVNYPEPYRSQILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYA
LDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVVTWIV
GAKRYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASMLLD
AELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGY
MTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVWVSAHTTQFTQPGWYYLKT
VGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLPYFNVSQQFATFVLKGSFSEI
PELQVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLP
PKSQPFPSTYKDDFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPIT
WAADASNTISIIGDYNWTNLTIKCDVYIETPDTGGVFIAGRVNKGGILIRSARGIFFWIF
ANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHFTSGMLNDKSLWTDIPVNFPK
NGWAAIGTHSFEFAQFDNFLVEATR
NT seq 2058 nt   +upstreamnt  +downstreamnt
atggctgagtggctactctcggcttcctggcaacgccgagcgaaagctatgactgcggcc
gcgggttcggcgggccgcgccgcggtgcccttgctgctgtgtgcgctgctggcgcccggc
ggcgcgtacgtgctcgacgactccgacgggctgggccgggagttcgacggcatcggcgcg
gtcagcggcggcggggcaacctcccgacttctagtaaattacccagagccctatcgttct
cagatattggattatctctttaagccgaattttggtgcctctttgcatattttaaaagtg
gaaataggtggtgatgggcagacaacagacggcactgagccctcccacatgcattatgca
ctagatgagaattatttccgaggatacgagtggtggttgatgaaagaagctaagaagagg
aatcccaatattacactcattgggttgccatggtcattccctggatggctgggaaaaggt
ttcgactggccttatgtcaatcttcagctgactgcctattatgtcgtgacctggattgtg
ggcgccaagcgttaccatgatttggacattgattatattggaatttggaatgagaggtca
tataatgccaattatattaagatattaagaaaaatgctgaattatcaaggtctccagcga
gtgaaaatcatagcaagtgataatctctgggagtccatctctgcatccatgctccttgat
gccgaactcttcaaggtggttgatgttataggggctcattatcctggaacccattcagca
aaagatgcaaagttgactgggaagaagctttggtcttctgaagactttagcactttaaat
agtgacatgggtgcaggctgctggggtcgcattttaaatcagaattatatcaatggctat
atgacttccacaatcgcatggaatttagtggctagttactatgaacagttgccttatggg
agatgcgggttgatgacggcccaggagccatggagtgggcactacgtggtagaatctcct
gtctgggtatcagctcataccactcagtttactcaacctggctggtattacctgaagaca
gttggccatttagagaaaggaggaagctacgtagctctgactgatggcttagggaacctc
accatcatcattgaaaccatgagtcataaacattctaagtgcatacggccatttcttcct
tatttcaatgtgtcacaacaatttgccacctttgttcttaagggatcttttagtgaaata
ccagagctacaggtatggtataccaaacttggaaaaacatccgaaagatttctttttaag
cagctggattctctatggctccttgacagcgatggcagtttcacactgagcctgcatgaa
gatgagctgttcacactcaccactctcaccactggtcgcaaaggcagctacccgcttcct
ccaaaatcccagcccttcccaagtacctataaggatgatttcaatgttgattacccattt
tttagtgaagctccaaactttgctgatcaaactggtgtatttgaatattttacaaatatt
gaagaccctggcgagcatcacttcacgctacgccaagttctcaaccagagacccattaca
tgggctgccgatgcatccaacacaatcagtattataggagactacaactggaccaatctg
actataaagtgtgatgtatacatagagacccctgacacaggaggtgtgttcattgcagga
agagtaaataaaggtggtattttgattagaagtgccagaggaattttcttctggattttt
gcaaatggatcttacagggttacaggtgatttagctggatggattatatatgctttagga
cgtgttgaagttacagcaaaaaaatggtatacactcacgttaactattaagggtcatttc
acctctggcatgctgaatgacaagtctctgtggacagacatccctgtgaattttccaaag
aatggctgggctgcaattggaactcactcctttgaatttgcacagtttgacaactttctt
gtggaagccacacgctaa

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