Entry |
|
Symbol |
ARSA, ASA, MLD
|
Name |
|
KO |
|
Organism |
|
Pathway |
|
Network |
|
Element |
N00647 | Hydrolysis of galactosylceramide sulfate |
|
Disease |
H00127 | Metachromatic leukodystrophy |
|
Drug target |
Atidarsagene autotemcel: | D12877<US> |
|
Brite |
KEGG Orthology (KO) [BR:hsa00001]
09100 Metabolism
09103 Lipid metabolism
00600 Sphingolipid metabolism
410 (ARSA)
09140 Cellular Processes
09141 Transport and catabolism
04142 Lysosome
410 (ARSA)
Enzymes [BR:hsa01000]
3. Hydrolases
3.1 Acting on ester bonds
3.1.6 Sulfuric-ester hydrolases
3.1.6.8 cerebroside-sulfatase
410 (ARSA)
|
SSDB |
|
Motif |
|
Other DBs |
|
Structure |
|
LinkDB |
|
Position |
22:complement(50622754..50628152)
|
AA seq |
509 aa
MSMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLR
FTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLT
GMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVP
IPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSF
AERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLL
RCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDL
SPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASS
SLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVA
RGEDPALQICCHPGCTPRPACCHCPDPHA |
NT seq |
1530 nt +upstreamnt +downstreamnt
atgtccatgggggcaccgcggtccctcctcctggccctggctgctggcctggccgttgcc
cgtccgcccaacatcgtgctgatctttgccgacgacctcggctatggggacctgggctgc
tatgggcaccccagctctaccactcccaacctggaccagctggcggcgggagggctgcgg
ttcacagacttctacgtgcctgtgtctctgtgcacaccctctagggccgccctcctgacc
ggccggctcccggttcggatgggcatgtaccctggcgtcctggtgcccagctcccggggg
ggcctgcccctggaggaggtgaccgtggccgaagtcctggctgcccgaggctacctcaca
ggaatggccggcaagtggcaccttggggtggggcctgagggggccttcctgcccccccat
cagggcttccatcgatttctaggcatcccgtactcccacgaccagggcccctgccagaac
ctgacctgcttcccgccggccactccttgcgacggtggctgtgaccagggcctggtcccc
atcccactgttggccaacctgtccgtggaggcgcagcccccctggctgcccggactagag
gcccgctacatggctttcgcccatgacctcatggccgacgcccagcgccaggatcgcccc
ttcttcctgtactatgcctctcaccacacccactaccctcagttcagtgggcagagcttt
gcagagcgttcaggccgcgggccatttggggactccctgatggagctggatgcagctgtg
gggaccctgatgacagccataggggacctggggctgcttgaagagacgctggtcatcttc
actgcagacaatggacctgagaccatgcgtatgtcccgaggcggctgctccggtctcttg
cggtgtggaaagggaacgacctacgagggcggtgtccgagagcctgccttggccttctgg
ccaggtcatatcgctcccggcgtgacccacgagctggccagctccctggacctgctgcct
accctggcagccctggctggggccccactgcccaatgtcaccttggatggctttgacctc
agccccctgctgctgggcacaggcaagagccctcggcagtctctcttcttctacccgtcc
tacccagacgaggtccgtggggtttttgctgtgcggactggaaagtacaaggctcacttc
ttcacccagggctctgcccacagtgataccactgcagaccctgcctgccacgcctccagc
tctctgactgctcatgagcccccgctgctctatgacctgtccaaggaccctggtgagaac
tacaacctgctggggggtgtggccggggccaccccagaggtgctgcaagccctgaaacag
cttcagctgctcaaggcccagttagacgcagctgtgaccttcggccccagccaggtggcc
cggggcgaggaccccgccctgcagatctgctgtcatcctggctgcaccccccgcccagct
tgctgccattgcccagatccccatgcctga |