Homo sapiens (human): 57704
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
DUF608
Glyco_hydr_116N
Bac_rhamnosid6H
DUF5127
Motif
Other DBs
NCBI-GeneID:
57704
NCBI-ProteinID:
NP_065995
OMIM:
609471
HGNC:
18986
Ensembl:
ENSG00000070610
UniProt:
Q9HCG7
LinkDB
All DBs
Position
9:complement(35736866..35749228)
Genome browser
AA seq
927 aa
AA seq
DB search
MGTQDPGNMGTGVPASEQISCAKEDPQVYCPEETGGTKDVQVTDCKSPEDSRPPKETDCC
NPEDSGQLMVSYEGKAMGYQVPPFGWRICLAHEFTEKRKPFQANNVSLSNMIKHIGMGLR
YLQWWYRKTHVEKKTPFIDMINSVPLRQIYGCPLGGIGGGTITRGWRGQFCRWQLNPGMY
QHRTVIADQFTVCLRREGQTVYQQVLSLERPSVLRSWNWGLCGYFAFYHALYPRAWTVYQ
LPGQNVTLTCRQITPILPHDYQDSSLPVGVFVWDVENEGDEALDVSIMFSMRNGLGGGDD
APGGLWNEPFCLERSGETVRGLLLHHPTLPNPYTMAVAARVTAATTVTHITAFDPDSTGQ
QVWQDLLQDGQLDSPTGQSTPTQKGVGIAGAVCVSSKLRPRGQCRLEFSLAWDMPRIMFG
AKGQVHYRRYTRFFGQDGDAAPALSHYALCRYAEWEERISAWQSPVLDDRSLPAWYKSAL
FNELYFLADGGTVWLEVLEDSLPEELGRNMCHLRPTLRDYGRFGYLEGQEYRMYNTYDVH
FYASFALIMLWPKLELSLQYDMALATLREDLTRRRYLMSGVMAPVKRRNVIPHDIGDPDD
EPWLRVNAYLIHDTADWKDLNLKFVLQVYRDYYLTGDQNFLKDMWPVCLAVMESEMKFDK
DHDGLIENGGYADQTYDGWVTTGPSAYCGGLWLAAVAVMVQMAALCGAQDIQDKFSSILS
RGQEAYERLLWNGRYYNYDSSSRPQSRSVMSDQCAGQWFLKACGLGEGDTEVFPTQHVVR
ALQTIFELNVQAFAGGAMGAVNGMQPHGVPDKSSVQSDEVWVGVVYGLAATMIQEGLTWE
GFQTAEGCYRTVWERLGLAFQTPEAYCQQRVFRSLAYMRPLSIWAMQLALQQQQHKKASW
PKVKQGTGLRTGPMFGPKEAMANLSPE
NT seq
2784 nt
NT seq
+upstream
nt +downstream
nt
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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