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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