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
Disease
H00135  Krabbe disease
H00423  Defects in the degradation of sulfatide
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Lipid metabolism
   00600 Sphingolipid metabolism
    2581 (GALC)
 Cellular Processes
  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
gaagaccctggcgagcatcacttcacgctacgccaagttctcaaccagagacccattacg
tgggctgccgatgcatccaacacaatcagtattataggagactacaactggaccaatctg
actataaagtgtgatgtatacatagagacccctgacacaggaggtgtgttcattgcagga
agagtaaataaaggtggtattttgattagaagtgccagaggaattttcttctggattttt
gcaaatggatcttacagggttacaggtgatttagctggatggattatatatgctttagga
cgtgttgaagttacagcaaaaaaatggtatacactcacgttaactattaagggtcatttc
acctctggcatgctgaatgacaagtctctgtggacagacatccctgtgaattttccaaag
aatggctgggctgcaattggaactcactcctttgaatttgcacagtttgacaactttctt
gtggaagccacacgctaa

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