Homo sapiens (human): 2629 Help Entry 2629              CDS       T01001                                  Symbol GBA1, GBA, GCB, GLUC Name (RefSeq) glucosylceramidase beta 1   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 Network nt06014  Sphingolipid degradation   Element N00640   Hydrolysis of lactosylceramide N00642   Saposin stimulation of GBA and GALC N00643   Loss of saposin stimulation N00679   Glucosylceramide synthesis in GBA deficiency Disease H00066   Lewy body dementia (LBD) H00126   Gaucher disease H00423   Sphingolipidosis Drug target Alglucerase:  D02810 Imiglucerase:  D03020<JP/US> Taliglucerase alfa:  D09675<US> Velaglucerase alfa:  D09029<JP/US> Brite KEGG Orthology (KO) [BR:hsa00001]  09100 Metabolism   09103 Lipid metabolism    00600 Sphingolipid metabolism     2629 (GBA1)   09107 Glycan biosynthesis and metabolism    00511 Other glycan degradation     2629 (GBA1)  09140 Cellular Processes   09141 Transport and catabolism    04142 Lysosome     2629 (GBA1) 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 (GBA1) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  Glyco_hydro_30 Glyco_hydro_30C Motif Other DBs NCBI-GeneID:  2629 NCBI-ProteinID:  NP_000148 OMIM:  606463 HGNC:  4177 Ensembl:  ENSG00000177628 UniProt:  P04062 A0A068F658 Structure PDB LinkDB All DBs Position 1:complement(155234452..155244627) Genome browser 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

DBGET integrated database retrieval system