KEGG   Homo sapiens (human): 57733
Entry
57733             CDS       T01001                                 

Gene name
GBA3, CBG, CBGL1, GLUC, KLRP
Definition
(RefSeq) glucosylceramidase beta 3 (gene/pseudogene)
  KO
K05350  beta-glucosidase [EC:3.2.1.21]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00500  Starch and sucrose metabolism
hsa01100  Metabolic pathways
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00500 Starch and sucrose metabolism
    57733 (GBA3)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.2  Glycosylases
   3.2.1  Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds
    3.2.1.21  beta-glucosidase
     57733 (GBA3)
SSDB
Motif
Pfam: Glyco_hydro_1 Cellulase PAR1
Other DBs
NCBI-GeneID: 57733
NCBI-ProteinID: NP_066024
OMIM: 606619
HGNC: 19069
Ensembl: ENSG00000249948
Vega: OTTHUMG00000160448
Pharos: Q9H227(Tbio)
UniProt: Q9H227 A8K9N1
Structure
PDB: 
2E9L 2E9M 2ZOX 3VKK 2JFE

Position
4p15.2
AA seq 469 aa
MAFPAGFGWAAATAAYQVEGGWDADGKGPCVWDTFTHQGGERVFKNQTGDVACGSYTLWE
EDLKCIKQLGLTHYRFSLSWSRLLPDGTTGFINQKGIDYYNKIIDDLLKNGVTPIVTLYH
FDLPQTLEDQGGWLSEAIIESFDKYAQFCFSTFGDRVKQWITINEANVLSVMSYDLGMFP
PGIPHFGTGGYQAAHNLIKAHARSWHSYDSLFRKKQKGMVSLSLFAVWLEPADPNSVSDQ
EAAKRAITFHLDLFAKPIFIDGDYPEVVKSQIASMSQKQGYPSSRLPEFTEEEKKMIKGT
ADFFAVQYYTTRLIKYQENKKGELGILQDAEIEFFPDPSWKNVDWIYVVPWGVCKLLKYI
KDTYNNPVIYITENGFPQSDPAPLDDTQRWEYFRQTFQELFKAIQLDKVNLQVYCAWSLL
DNFEWNQGYSSRFGLFHVDFEDPARPRVPYTSAKEYAKIIRNNGLEAHL
NT seq 1410 nt   +upstreamnt  +downstreamnt
atggctttccctgcaggatttggatgggcggcagccactgcagcttatcaagtagaagga
ggctgggatgcagatggaaaaggcccttgtgtctgggacacatttactcatcagggagga
gagagagttttcaagaaccagactggcgatgtagcttgtggcagctacactctgtgggag
gaagatttgaaatgtatcaaacagcttggattgactcattaccgcttctctctttcctgg
tcacgtctgttacctgatgggacgacaggtttcatcaaccagaaaggaattgattattac
aacaagatcatcgatgatttgttaaaaaatggggttactcccattgtgaccctctaccac
tttgatttgcctcagactttagaagaccaaggaggttggttgtcagaggcaatcattgaa
tcctttgacaaatatgctcagttttgcttcagtacctttggggatcgtgtcaagcagtgg
atcaccataaatgaagctaatgttctttctgtgatgtcatatgacttaggtatgtttcct
ccgggtatccctcactttgggactggaggttatcaggcagctcataatttgattaaggct
catgccagatcctggcacagctatgattccttatttcgaaaaaagcagaaaggtatggtg
tctctatcactttttgcggtctggttggaaccagcagatcccaactcagtgtctgaccag
gaagctgctaaaagagccatcactttccatctggatttatttgctaaacccatattcatc
gatggtgattatcctgaagttgtcaagtctcagattgcctccatgagtcaaaagcaaggc
tatccatcatcgaggcttccagaattcactgaagaagagaagaaaatgatcaaaggcact
gctgatttttttgctgtgcaatattatacaactcgcttaatcaagtaccaggagaacaag
aaaggagaactaggtattctccaggatgcggaaattgaattttttccagatccatcttgg
aaaaatgtggattggatctacgtggtaccatggggagtatgtaaactactgaaatatatt
aaggatacatataataaccctgtaatttacatcactgagaatgggtttccccagagtgac
ccagcgcctcttgatgacactcaacgctgggagtatttcagacaaacatttcaggaactg
ttcaaagctatccaacttgataaagtcaatcttcaagtatattgtgcatggtctcttctg
gataactttgagtggaaccagggatacagcagccggtttggtctcttccacgttgatttt
gaagacccagctagaccccgagtcccttacacatcggccaaggaatatgccaagatcatc
cgaaacaatggccttgaagcacatctgtag

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (1)   
   OMIM (1)   
Chemical substance (20)   
   KEGG COMPOUND (20)   
Chemical reaction (12)   
   KEGG ENZYME (1)   
   KEGG REACTION (11)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (6)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (36)   
   RefSeq(nuc) (6)   
   GenBank (15)   
   EMBL (15)   
Protein domain (3)   
   Pfam (3)   
All databases (95)   

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