Homo sapiens (human): 6609
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Entry
6609 CDS
T01001
Symbol
SMPD1, ASM, ASMASE, NPD
Name
(RefSeq) sphingomyelin phosphodiesterase 1
KO
K12350
sphingomyelin phosphodiesterase [EC:
3.1.4.12
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00600
Sphingolipid metabolism
hsa01100
Metabolic pathways
hsa04071
Sphingolipid signaling pathway
hsa04142
Lysosome
hsa04217
Necroptosis
Network
nt06014
Sphingolipid degradation
Element
N00649
Hydrolysis of sphingomyelin
Disease
H00137
Niemann-Pick disease type A/B
H00423
Sphingolipidosis
H00424
Defects in the degradation of sphingomyelin
Drug target
Olipudase alfa:
D10820
<JP/US>
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09103 Lipid metabolism
00600 Sphingolipid metabolism
6609 (SMPD1)
09130 Environmental Information Processing
09132 Signal transduction
04071 Sphingolipid signaling pathway
6609 (SMPD1)
09140 Cellular Processes
09141 Transport and catabolism
04142 Lysosome
6609 (SMPD1)
09143 Cell growth and death
04217 Necroptosis
6609 (SMPD1)
Enzymes [BR:
hsa01000
]
3. Hydrolases
3.1 Acting on ester bonds
3.1.4 Phosphoric-diester hydrolases
3.1.4.12 sphingomyelin phosphodiesterase
6609 (SMPD1)
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SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Metallophos
ASMase_C
Motif
Other DBs
NCBI-GeneID:
6609
NCBI-ProteinID:
NP_000534
OMIM:
607608
HGNC:
11120
Ensembl:
ENSG00000166311
UniProt:
P17405
Q59EN6
Structure
PDB
LinkDB
All DBs
Position
11:6390474..6394996
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AA seq
631 aa
AA seq
DB search
MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLVLALALALALALALSDSRVLWAPAE
AHPLSPQGHPARLHRIVPRLRDVFGWGNLTCPICKGLFTAINLGLKKEPNVARVGSVAIK
LCNLLKIAPPAVCQSIVHLFEDDMVEVWRRSVLSPSEACGLLLGSTCGHWDIFSSWNISL
PTVPKPPPKPPSPPAPGAPVSRILFLTDLHWDHDYLEGTDPDCADPLCCRRGSGLPPASR
PGAGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWTGDIPAHDVWHQTRQDQLRALTT
VTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEAL
RTLRIGGFYALSPYPGLRLISLNMNFCSRENFWLLINSTDPAGQLQWLVGELQAAEDRGD
KVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAV
AFLAPSATTYIGLNPGYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYR
ARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEPCGTPCRLATLCAQLS
ARADSPALCRHLMPDGSLPEAQSLWPRPLFC
NT seq
1896 nt
NT seq
+upstream
nt +downstream
nt
atgccccgctacggagcgtcactccgccagagctgccccaggtccggccgggagcaggga
caagacgggaccgccggagcccccggactcctttggatgggcctggtgctggcgctggcg
ctggcgctggcgctggcgctggctctgtctgactctcgggttctctgggctccggcagag
gctcaccctctttctccccaaggccatcctgccaggttacatcgcatagtgccccggctc
cgagatgtctttgggtgggggaacctcacctgcccaatctgcaaaggtctattcaccgcc
atcaacctcgggctgaagaaggaacccaatgtggctcgcgtgggctccgtggccatcaag
ctgtgcaatctgctgaagatagcaccacctgccgtgtgccaatccattgtccacctcttt
gaggatgacatggtggaggtgtggagacgctcagtgctgagcccatctgaggcctgtggc
ctgctcctgggctccacctgtgggcactgggacattttctcatcttggaacatctctttg
cctactgtgccgaagccgccccccaaaccccctagccccccagccccaggtgcccctgtc
agccgcatcctcttcctcactgacctgcactgggatcatgactacctggagggcacggac
cctgactgtgcagacccactgtgctgccgccggggttctggcctgccgcccgcatcccgg
ccaggtgccggatactggggcgaatacagcaagtgtgacctgcccctgaggaccctggag
agcctgttgagtgggctgggcccagccggcccttttgatatggtgtactggacaggagac
atccccgcacatgatgtctggcaccagactcgtcaggaccaactgcgggccctgaccacc
gtcacagcacttgtgaggaagttcctggggccagtgccagtgtaccctgctgtgggtaac
catgaaagcacacctgtcaatagcttccctccccccttcattgagggcaaccactcctcc
cgctggctctatgaagcgatggccaaggcttgggagccctggctgcctgccgaagccctg
cgcaccctcagaattggggggttctatgctctttccccataccccggtctccgcctcatc
tctctcaatatgaatttttgttcccgtgagaacttctggctcttgatcaactccacggat
cccgcaggacagctccagtggctggtgggggagcttcaggctgctgaggatcgaggagac
aaagtgcatataattggccacattcccccagggcactgtctgaagagctggagctggaat
tattaccgaattgtagccaggtatgagaacaccctggctgctcagttctttggccacact
catgtggatgaatttgaggtcttctatgatgaagagactctgagccggccgctggctgta
gccttcctggcacccagtgcaactacctacatcggccttaatcctggttaccgtgtgtac
caaatagatggaaactactccgggagctctcacgtggtcctggaccatgagacctacatc
ctgaatctgacccaggcaaacataccgggagccataccgcactggcagcttctctacagg
gctcgagaaacctatgggctgcccaacacactgcctaccgcctggcacaacctggtatat
cgcatgcggggcgacatgcaacttttccagaccttctggtttctctaccataagggccac
ccaccctcggagccctgtggcacgccctgccgtctggctactctttgtgcccagctctct
gcccgtgctgacagccctgctctgtgccgccacctgatgccagatgggagcctcccagag
gcccagagcctgtggccaaggccactgttttgctag
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