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
UniProt: Q9HCG7
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

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (3)   
   KEGG PATHWAY (3)   
Network (4)   
   KEGG NETWORK (4)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical substance (6)   
   KEGG COMPOUND (6)   
Chemical reaction (3)   
   KEGG ENZYME (1)   
   KEGG REACTION (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (16)   
   KEGG ORTHOLOGY (1)   
   RefGene (9)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (28)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (26)   
DNA sequence (44)   
   RefSeq(nuc) (26)   
   GenBank (9)   
   EMBL (9)   
Protein domain (4)   
   Pfam (4)   
All databases (114)   

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