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
Disease
H00066  Lewy body dementia (LBD)
H00126  Gaucher disease
H00426  Defects in the degradation of ganglioside
H00810  Progressive myoclonic epilepsy (PME/ EPM)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Lipid metabolism
   00600 Sphingolipid metabolism
    2629 (GBA)
  Glycan biosynthesis and metabolism
   00511 Other glycan degradation
    2629 (GBA)
 Cellular Processes
  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
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

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