KEGG   Homo sapiens (human): 2581Help
Entry
2581              CDS       T01001                                 

Gene name
GALC
Definition
(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
N00646  GALC deficiency in galactosylceramide hydrolysis
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 OrthologParalogGFIT
Motif
Pfam: Glyco_hydro_59 Glyco_hydro_59M Glyco_hydro_30
Motif
Other DBs
NCBI-GeneID: 2581
NCBI-ProteinID: NP_000144
OMIM: 606890
HGNC: 4115
Ensembl: ENSG00000054983
Vega: OTTHUMG00000028646
Pharos: P54803(Tbio)
UniProt: P54803 A0A0A0MQV0
LinkDB All DBs
Position
14q31.3
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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