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 PDBPDBj 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

Homo sapiens (human): 57704 Help 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) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  DUF608 Glyco_hydr_116N Bac_rhamnosid6H DUF5127 Motif Other DBs NCBI-GeneID:  57704 NCBI-ProteinID:  NP_065995 OMIM:  609471 HGNC:  18986 Ensembl:  ENSG00000070610 UniProt:  Q9HCG7 LinkDB All DBs Position 9:complement(35736866..35749228) Genome browser 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

Homo sapiens (human): 2581 Help Entry 2581              CDS       T01001                                  Symbol GALC Name (RefSeq) galactosylceramidase   KO K01202   galactosylceramidase [EC:3.2.1.46] Organism hsa  Homo sapiens (human) Pathway hsa00600   Sphingolipid metabolism hsa01100   Metabolic pathways hsa04142   Lysosome Network nt06014  Sphingolipid degradation   Element N00642   Saposin stimulation of GBA and GALC N00643   Loss of saposin stimulation N00644   Hydrolysis of galabiosylceramide N01712   Hydrolysis of psychosine Disease H00135   Krabbe disease H00423   Sphingolipidosis Brite KEGG Orthology (KO) [BR:hsa00001]  09100 Metabolism   09103 Lipid metabolism    00600 Sphingolipid metabolism     2581 (GALC)  09140 Cellular Processes   09141 Transport and catabolism    04142 Lysosome     2581 (GALC) Enzymes [BR:hsa01000]  3. Hydrolases   3.2  Glycosylases    3.2.1  Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds     3.2.1.46  galactosylceramidase      2581 (GALC) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  Glyco_hydro_59 Glyco_hydro_59_C Glyco_hydro_59M Glyco_hydro_30 Motif Other DBs NCBI-GeneID:  2581 NCBI-ProteinID:  NP_000144 OMIM:  606890 HGNC:  4115 Ensembl:  ENSG00000054983 UniProt:  P54803 A0A0A0MQV0 LinkDB All DBs Position 14:complement(87933014..87993667) Genome browser AA seq 685 aa AA seqDB search MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGAYVLDDSDGLGREFDGIGA VSGGGATSRLLVNYPEPYRSQILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYA LDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVVTWIV GAKRYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASMLLD AELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGY MTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVWVSAHTTQFTQPGWYYLKT VGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLPYFNVSQQFATFVLKGSFSEI PELQVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLP PKSQPFPSTYKDDFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPIT WAADASNTISIIGDYNWTNLTIKCDVYIETPDTGGVFIAGRVNKGGILIRSARGIFFWIF ANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHFTSGMLNDKSLWTDIPVNFPK NGWAAIGTHSFEFAQFDNFLVEATR NT seq 2058 nt NT seq  +upstreamnt  +downstreamnt atggctgagtggctactctcggcttcctggcaacgccgagcgaaagctatgactgcggcc gcgggttcggcgggccgcgccgcggtgcccttgctgctgtgtgcgctgctggcgcccggc ggcgcgtacgtgctcgacgactccgacgggctgggccgggagttcgacggcatcggcgcg gtcagcggcggcggggcaacctcccgacttctagtaaattacccagagccctatcgttct cagatattggattatctctttaagccgaattttggtgcctctttgcatattttaaaagtg gaaataggtggtgatgggcagacaacagacggcactgagccctcccacatgcattatgca ctagatgagaattatttccgaggatacgagtggtggttgatgaaagaagctaagaagagg aatcccaatattacactcattgggttgccatggtcattccctggatggctgggaaaaggt ttcgactggccttatgtcaatcttcagctgactgcctattatgtcgtgacctggattgtg ggcgccaagcgttaccatgatttggacattgattatattggaatttggaatgagaggtca tataatgccaattatattaagatattaagaaaaatgctgaattatcaaggtctccagcga gtgaaaatcatagcaagtgataatctctgggagtccatctctgcatccatgctccttgat gccgaactcttcaaggtggttgatgttataggggctcattatcctggaacccattcagca aaagatgcaaagttgactgggaagaagctttggtcttctgaagactttagcactttaaat agtgacatgggtgcaggctgctggggtcgcattttaaatcagaattatatcaatggctat atgacttccacaatcgcatggaatttagtggctagttactatgaacagttgccttatggg agatgcgggttgatgacggcccaggagccatggagtgggcactacgtggtagaatctcct gtctgggtatcagctcataccactcagtttactcaacctggctggtattacctgaagaca gttggccatttagagaaaggaggaagctacgtagctctgactgatggcttagggaacctc accatcatcattgaaaccatgagtcataaacattctaagtgcatacggccatttcttcct tatttcaatgtgtcacaacaatttgccacctttgttcttaagggatcttttagtgaaata ccagagctacaggtatggtataccaaacttggaaaaacatccgaaagatttctttttaag cagctggattctctatggctccttgacagcgatggcagtttcacactgagcctgcatgaa gatgagctgttcacactcaccactctcaccactggtcgcaaaggcagctacccgcttcct ccaaaatcccagcccttcccaagtacctataaggatgatttcaatgttgattacccattt tttagtgaagctccaaactttgctgatcaaactggtgtatttgaatattttacaaatatt gaagaccctggcgagcatcacttcacgctacgccaagttctcaaccagagacccattaca tgggctgccgatgcatccaacacaatcagtattataggagactacaactggaccaatctg actataaagtgtgatgtatacatagagacccctgacacaggaggtgtgttcattgcagga agagtaaataaaggtggtattttgattagaagtgccagaggaattttcttctggattttt gcaaatggatcttacagggttacaggtgatttagctggatggattatatatgctttagga cgtgttgaagttacagcaaaaaaatggtatacactcacgttaactattaagggtcatttc acctctggcatgctgaatgacaagtctctgtggacagacatccctgtgaattttccaaag aatggctgggctgcaattggaactcactcctttgaatttgcacagtttgacaactttctt gtggaagccacacgctaa

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