KEGG   Homo sapiens (human): 6609Help
Entry
6609              CDS       T01001                                 

Gene name
SMPD1, ASM, ASMASE, NPD
Definition
(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
N00650  SMPD1 deficiency in sphingolipid degradation
Disease
H00137  Niemann-Pick disease type A/B
H00423  Sphingolipidosis
H00424  Defects in the degradation of sphingomyelin
Drug target
Olipudase alfa: D10820
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Metallophos
Motif
Other DBs
NCBI-GeneID: 6609
NCBI-ProteinID: NP_000534
OMIM: 607608
HGNC: 11120
Ensembl: ENSG00000166311
Vega: OTTHUMG00000165453
Pharos: P17405(Tbio)
UniProt: P17405 Q59EN6
Structure
PDB: 

Position
11p15.4
AA seq 631 aa AA seqDB search
MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLVLALALALALALALSDSRVLWAPAE
AHPLSPQGHPARLHRIVPRLRDVFGWGNLTCPICKGLFTAINLGLKKEPNVARVGSVAIK
LCNLLKIAPPAVCQSIVHLFEDDMVEVWRRSVLSPSEACGLLLGSTCGHWDIFSSWNISL
PTVPKPPPKPPSPPAPGAPVSRILFLTDLHWDHDYLEGTDPDCADPLCCRRGSGLPPASR
PGAGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWTGDIPAHDVWHQTRQDQLRALTT
VTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEAL
RTLRIGGFYALSPYPGLRLISLNMNFCSRENFWLLINSTDPAGQLQWLVGELQAAEDRGD
KVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAV
AFLAPSATTYIGLNPGYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYR
ARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEPCGTPCRLATLCAQLS
ARADSPALCRHLMPDGSLPEAQSLWPRPLFC
NT seq 1896 nt NT seq  +upstreamnt  +downstreamnt
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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