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
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
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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