KEGG   Homo sapiens (human): 6609
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)
SSDB
Motif
Pfam: Metallophos ASMase_C
Other DBs
NCBI-GeneID: 6609
NCBI-ProteinID: NP_000534
OMIM: 607608
HGNC: 11120
Ensembl: ENSG00000166311
UniProt: P17405 Q59EN6
Structure
LinkDB
Position
11:6390474..6394996
AA seq 631 aa
MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLVLALALALALALALSDSRVLWAPAE
AHPLSPQGHPARLHRIVPRLRDVFGWGNLTCPICKGLFTAINLGLKKEPNVARVGSVAIK
LCNLLKIAPPAVCQSIVHLFEDDMVEVWRRSVLSPSEACGLLLGSTCGHWDIFSSWNISL
PTVPKPPPKPPSPPAPGAPVSRILFLTDLHWDHDYLEGTDPDCADPLCCRRGSGLPPASR
PGAGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWTGDIPAHDVWHQTRQDQLRALTT
VTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEAL
RTLRIGGFYALSPYPGLRLISLNMNFCSRENFWLLINSTDPAGQLQWLVGELQAAEDRGD
KVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAV
AFLAPSATTYIGLNPGYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYR
ARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEPCGTPCRLATLCAQLS
ARADSPALCRHLMPDGSLPEAQSLWPRPLFC
NT seq 1896 nt   +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

KEGG   Homo sapiens (human): 6610
Entry
6610              CDS       T01001                                 
Symbol
SMPD2, ISC1, NSMASE, NSMASE1
Name
(RefSeq) sphingomyelin phosphodiesterase 2
  KO
K12351  sphingomyelin phosphodiesterase 2 [EC:3.1.4.12]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00600  Sphingolipid metabolism
hsa01100  Metabolic pathways
hsa04071  Sphingolipid signaling pathway
Network
nt06014  Sphingolipid degradation
  Element
N00649  Hydrolysis of sphingomyelin
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00600 Sphingolipid metabolism
    6610 (SMPD2)
 09130 Environmental Information Processing
  09132 Signal transduction
   04071 Sphingolipid signaling pathway
    6610 (SMPD2)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.4  Phosphoric-diester hydrolases
    3.1.4.12  sphingomyelin phosphodiesterase
     6610 (SMPD2)
SSDB
Motif
Pfam: Exo_endo_phos
Other DBs
NCBI-GeneID: 6610
NCBI-ProteinID: NP_003071
OMIM: 603498
HGNC: 11121
Ensembl: ENSG00000135587
UniProt: O60906
Structure
LinkDB
Position
6:109440724..109443919
AA seq 423 aa
MKPNFSLRLRIFNLNCWGIPYLSKHRADRMRRLGDFLNQESFDLALLEEVWSEQDFQYLR
QKLSPTYPAAHHFRSGIIGSGLCVFSKHPIQELTQHIYTLNGYPYMIHHGDWFSGKAVGL
LVLHLSGMVLNAYVTHLHAEYNRQKDIYLAHRVAQAWELAQFIHHTSKKADVVLLCGDLN
MHPEDLGCCLLKEWTGLHDAYLETRDFKGSEEGNTMVPKNCYVSQQELKPFPFGVRIDYV
LYKAVSGFYISCKSFETTTGFDPHRGTPLSDHEALMATLFVRHSPPQQNPSSTHGPAERS
PLMCVLKEAWTELGLGMAQARWWATFASYVIGLGLLLLALLCVLAAGGGAGEAAILLWTP
SVGLVLWAGAFYLFHVQEVNGLYRAQAELQHVLGRAREAQDLGPEPQPALLLGQQEGDRT
KEQ
NT seq 1272 nt   +upstreamnt  +downstreamnt
atgaagcccaacttctccctgcgactgcggatcttcaacctcaactgctggggcattccg
tacttgagcaagcaccgggccgaccgcatgaggcgcctgggagactttctgaaccaggag
agcttcgacctggctttgctggaggaggtgtggagtgagcaggacttccagtacctgaga
cagaagctgtcacctacctacccagctgcacaccacttccggagcggaatcattggcagt
ggcctctgtgtcttctccaaacatccaatccaggagcttacccagcacatctacactctc
aatggctacccctacatgatccatcatggtgactggttcagtgggaaggctgtggggctg
ctggtgctccatctaagtggcatggtgctcaacgcctatgtgacccatctccatgccgaa
tacaatcgacagaaggacatctacctagcacatcgtgtggcccaagcttgggaattggcc
cagttcatccaccacacatccaagaaggcagacgtggttctgttgtgtggagacctcaac
atgcacccagaagacctgggctgctgcctgctgaaggagtggacagggcttcatgatgcc
tatcttgaaactcgggacttcaagggctctgaggaaggcaacacaatggtacccaagaac
tgctacgtcagccagcaggagctgaagccatttccctttggtgtccgcattgactacgtg
ctttacaaggcagtttctgggttttacatctcctgtaagagttttgaaaccactacaggc
tttgaccctcacaggggcacccccctctctgatcatgaagccctgatggctactctgttt
gtgaggcacagccccccacagcagaaccccagctctacccacggaccagcagagaggtcg
ccgttgatgtgtgtgctaaaggaggcctggacggagctgggtctgggcatggctcaggct
cgctggtgggccaccttcgctagctatgtgattggcctggggctgcttctcctggcactg
ctgtgtgtcctggcggctggaggaggggccggggaagctgccatactgctctggaccccc
agtgtagggctggtgctgtgggcaggtgcattctacctcttccacgtacaggaggtcaat
ggcttatatagggcccaggctgagctccagcatgtgctaggaagggcaagggaggcccag
gatctgggcccagagcctcagccagccctactcctggggcagcaggagggggacagaact
aaagaacaataa

KEGG   Homo sapiens (human): 55512
Entry
55512             CDS       T01001                                 
Symbol
SMPD3, NSMASE2
Name
(RefSeq) sphingomyelin phosphodiesterase 3
  KO
K12352  sphingomyelin phosphodiesterase 3 [EC:3.1.4.12]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00600  Sphingolipid metabolism
hsa01100  Metabolic pathways
Network
nt06014  Sphingolipid degradation
  Element
N00649  Hydrolysis of sphingomyelin
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00600 Sphingolipid metabolism
    55512 (SMPD3)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.4  Phosphoric-diester hydrolases
    3.1.4.12  sphingomyelin phosphodiesterase
     55512 (SMPD3)
SSDB
Motif
Pfam: Exo_endo_phos
Other DBs
NCBI-GeneID: 55512
NCBI-ProteinID: NP_061137
OMIM: 605777
HGNC: 14240
Ensembl: ENSG00000103056
UniProt: Q9NY59 A8K0T6
Structure
LinkDB
Position
16:complement(68358327..68448508)
AA seq 655 aa
MVLYTTPFPNSCLSALHCVSWALIFPCYWLVDRLAASFIPTTYEKRQRADDPCCLQLLCT
ALFTPIYLALLVASLPFAFLGFLFWSPLQSARRPYIYSRLEDKGLAGGAALLSEWKGTGP
GKSFCFATANVCLLPDSLARVNNLFNTQARAKEIGQRIRNGAARPQIKIYIDSPTNTSIS
AASFSSLVSPQGGDGVARAVPGSIKRTASVEYKGDGGRHPGDEAANGPASGDPVDSSSPE
DACIVRIGGEEGGRPPEADDPVPGGQARNGAGGGPRGQTPNHNQQDGDSGSLGSPSASRE
SLVKGRAGPDTSASGEPGANSKLLYKASVVKKAAARRRRHPDEAFDHEVSAFFPANLDFL
CLQEVFDKRAATKLKEQLHGYFEYILYDVGVYGCQGCCSFKCLNSGLLFASRYPIMDVAY
HCYPNKCNDDALASKGALFLKVQVGSTPQDQRIVGYIACTHLHAPQEDSAIRCGQLDLLQ
DWLADFRKSTSSSSAANPEELVAFDVVCGDFNFDNCSSDDKLEQQHSLFTHYRDPCRLGP
GEEKPWAIGTLLDTNGLYDEDVCTPDNLQKVLESEEGRREYLAFPTSKSSGQKGRKELLK
GNGRRIDYMLHAEEGLCPDWKAEVEEFSFITQLSGLTDHLPVAMRLMVSSGEEEA
NT seq 1968 nt   +upstreamnt  +downstreamnt
atggttttgtacacgaccccctttcctaacagctgtctgtccgccctgcactgtgtgtcc
tgggcccttatctttccatgctactggctggtggaccggctcgctgcctccttcataccc
accacctacgagaagcgccagcgggcagacgacccgtgctgcctgcagctgctctgcact
gccctcttcacgcccatctacctggccctcctggtggcctcgctgccctttgcgtttctc
ggctttctcttctggtccccactgcagtcggcccgccggccctacatctattcacggctg
gaagacaagggcctggccggtggggcagccctgctcagtgaatggaagggcacggggcct
ggcaaaagcttctgctttgccactgccaacgtctgcctcctgcccgactcactcgccagg
gtcaacaacctttttaacacccaagcgcgggccaaggagatcgggcagagaatccgcaat
ggggccgcccggccccagatcaaaatttacatcgactcccccaccaatacctccatcagc
gccgctagcttcagcagcctggtgtcaccacagggcggcgatggggtggcccgggccgtc
cccgggagcattaagaggacagcctctgtggagtacaagggtgacggtgggcggcacccc
ggtgacgaggctgccaacggcccagcctctggggaccctgtcgacagcagcagcccggag
gatgcctgcatcgtgcgcatcggtggcgaggagggcggccggccacctgaagctgacgac
cctgtgcctgggggccaggccaggaacggagctggcgggggcccaaggggccagacgccc
aaccataatcagcaggacggggattcagggagcctgggcagcccctcggcctcccgggag
tccctggtgaaggggcgagctgggccagacaccagtgccagcggggagccaggtgccaac
agcaagctcctgtacaaggcctcggtggtgaagaaggcggctgcacgcaggaggcggcac
cccgacgaggccttcgaccatgaggtctccgccttcttccccgccaacctggacttcctg
tgcctgcaggaggtgtttgacaagcgagcagccaccaaattgaaagagcagctgcacggc
tacttcgagtacatcctgtacgacgtcggggtctacggctgccagggctgctgcagcttc
aagtgtctcaacagcggcctcctctttgccagccgctaccccatcatggacgtggcctat
cactgttaccccaacaagtgtaacgacgatgccctggcctctaagggagctctgtttctc
aaggtgcaggtgggaagcacacctcaggaccaaagaatcgtcgggtacatcgcctgcaca
cacctgcatgccccgcaagaggacagcgccatccggtgtgggcagctggacctgcttcag
gactggctggctgatttccgaaaatctacctcctcgtccagcgcagccaaccccgaggag
ctggtggcatttgacgtcgtctgtggagatttcaactttgataactgctcctctgacgac
aagctggagcagcaacactccctgttcacccactacagggacccctgccgcctggggcct
ggtgaggagaagccgtgggccatcggtactctgctggacacgaacggcctgtacgatgag
gatgtgtgcacccccgacaacctgcagaaggtcctggagagtgaggagggccgcagggag
tacctggcgtttcccaccagcaagagctcgggccagaaggggcggaaggagctgctgaag
ggcaacggccggcgcatcgactacatgctgcatgcagaggaggggctgtgcccagactgg
aaggccgaggtggaagaattcagttttatcacccagctgtccggcctgacggaccacctg
ccagtagccatgcgactgatggtgtcttcgggggaggaggaggcatag

KEGG   Homo sapiens (human): 55627
Entry
55627             CDS       T01001                                 
Symbol
SMPD4, NEDMABA, NEDMEBA, NET13, NSMASE-3, NSMASE3, SKNY
Name
(RefSeq) sphingomyelin phosphodiesterase 4
  KO
K12353  sphingomyelin phosphodiesterase 4 [EC:3.1.4.12]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00600  Sphingolipid metabolism
hsa01100  Metabolic pathways
Network
nt06014  Sphingolipid degradation
  Element
N00649  Hydrolysis of sphingomyelin
Disease
H02461  Neurodevelopmental disorder with microcephaly
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00600 Sphingolipid metabolism
    55627 (SMPD4)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.4  Phosphoric-diester hydrolases
    3.1.4.12  sphingomyelin phosphodiesterase
     55627 (SMPD4)
SSDB
Motif
Pfam: mit_SMPDase
Other DBs
NCBI-GeneID: 55627
NCBI-ProteinID: NP_060221
OMIM: 610457
HGNC: 32949
Ensembl: ENSG00000136699
UniProt: Q9NXE4
LinkDB
Position
2:complement(130151392..130181757)
AA seq 837 aa
MTTFGAVAEWRLPSLRRATLWIPQWFAKKAIFNSPLEAAMAFPHLQQPSFLLASLKADSI
NKPFAQQCQDLVKVIEDFPAKELHTIFPWLVESIFGSLDGVLVGWNLRCLQGRVNPVEYS
IVMEFLDPGGPMMKLVYKLQAEDYKFDFPVSYLPGPVKASIQECILPDSPLYHNKVQFTP
TGGLGLNLALNPFEYYIFFFALSLITQKPLPVSLHVRTSDCAYFILVDRYLSWFLPTEGS
VPPPLSSSPGGTSPSPPPRTPAIPFASYGLHHTSLLKRHISHQTSVNADPASHEIWRSET
LLQVFVEMWLHHYSLEMYQKMQSPHAKESFTPTEEHVLVVRLLLKHLHAFANSLKPEQAS
PSAHSHATSPLEEFKRAAVPRFVQQKLYLFLQHCFGHWPLDASFRAVLEMWLSYLQPWRY
APDKQAPGSDSQPRCVSEKWAPFVQENLLMYTKLFVGFLNRALRTDLVSPKHALMVFRVA
KVFAQPNLAEMIQKGEQLFLEPELVIPHRQHRLFTAPTFTGSFLSPWPPAVTDASFKVKS
HVYSLEGQDCKYTPMFGPEARTLVLRLAQLITQAKHTAKSISDQCAESPAGHSFLSWLGF
SSMDTNGSYTANDLDEMGQDSVRKTDEYLEKALEYLRQIFRLSEAQLRQFTLALGTTQDE
NGKKQLPDCIVGEDGLILTPLGRYQIINGLRRFEIEYQGDPELQPIRSYEIASLVRTLFR
LSSAINHRFAGQMAALCSRDDFLGSFCRYHLTEPGLASRHLLSPVGRRQVAGHTRGPRLS
LRFLGSYRTLVSLLLAFFVASLFCVGPLPCTLLLTLGYVLYASAMTLLTERGKLHQP
NT seq 2514 nt   +upstreamnt  +downstreamnt
atgacgactttcggcgccgtggcggaatggcggcttccatctctgaggcgagcgacgcta
tggatcccacagtggtttgctaagaaggccattttcaactctccactggaggctgctatg
gcgttccctcacctgcagcagcccagctttctactggctagcctgaaagctgactctata
aataagccctttgcacagcagtgccaagacttggttaaagtcattgaggactttccagca
aaggagctgcacaccatcttcccatggctggtagaaagcatttttggcagcctagatggt
gtcctcgttggctggaacctccgctgcttacaggggcgcgtgaatcctgtggagtacagc
atcgtgatggaatttctcgaccctggtggcccaatgatgaagttggtttataagcttcaa
gctgaagactataagttcgactttcctgtctcctacttgcctggtcctgtgaaggcgtcc
atccaggagtgcatcctccctgacagtcctctgtaccacaacaaggtccagttcacccct
actgggggccttggtctgaacttggccctgaatccgttcgagtattacatattcttcttt
gccttgagcctcatcactcagaagccacttcctgtgtccctccacgtccgtacttcagac
tgtgcctatttcatcctggtggacaggtacctgtcatggttcctgcccaccgaaggcagt
gtgcccccaccactctcctccagcccaggggggaccagcccctcaccacctcccaggaca
ccagccataccctttgcttcctatggcctccaccacactagcctcctaaagcgacacatc
tctcatcagacgtctgtgaatgcagaccccgcctcccacgagatctggaggtcagaaact
ctgctccaggtttttgttgaaatgtggcttcatcactattccttggagatgtatcaaaaa
atgcagtcccctcatgccaaggagtcgttcacgcctactgaggagcatgtgttggtggtg
cgcctgctgctgaagcacctgcacgcctttgccaacagcctgaagccagagcaggcctca
ccctccgcccactcccacgccaccagccccctggaggagttcaaacgggctgctgtcccg
aggttcgtccagcagaaactctacctcttcttgcagcattgctttggccactggcccctg
gacgcatcgttcagagctgtcctggagatgtggctgagctacctgcagccgtggcggtac
gcgcctgacaagcaggctccgggcagcgactcccagccccggtgtgtgtcggagaaatgg
gcaccctttgtccaggagaacctgctgatgtacaccaagttgtttgtgggctttctgaac
cgcgcgctccgcacagacctggtcagccccaagcacgcgctcatggtgttccgagtggcc
aaagtctttgcccagcccaacctggctgagatgattcagaaaggtgagcagctattcctg
gagccagagctggtcatcccccaccgccagcaccgactcttcacggcccccacattcact
gggagcttcctgtcaccctggccaccagcggtcactgatgcctccttcaaggtgaagagc
cacgtctacagcctggagggccaggactgcaagtacaccccgatgtttgggcccgaggcc
cgcaccctggtcctgcgcctcgctcagctcatcacacaggccaaacacacagccaagtcc
atctccgaccagtgtgcggagagcccggctggccactccttcctctcatggctgggcttt
agctccatggacaccaatggctcctacacagccaacgacctggacgagatggggcaagac
agtgtccggaagacagatgaatacctggagaaggccctggagtacctgcgccagatattc
cggctcagcgaagcgcagctcaggcagttcacactcgccttgggcaccacccaggatgag
aatggaaaaaagcaactccccgactgcatcgtgggtgaggacggactcatccttacgccc
ctggggcggtaccagatcatcaatgggctgcgaaggtttgaaattgagtaccagggggac
ccggagctgcagcccatccggagctatgagatcgccagcttggtccgcacactctttagg
ctgtcgtctgccatcaaccacagatttgcaggacagatggcggctctgtgttcccgggat
gacttcctcggcagcttctgtcgctaccacctcacagaacctgggctggccagcaggcac
ctgctgagccctgtggggcggaggcaggtggccggccacacccgcggccccaggctcagc
ctgcgcttcctgggcagttaccggacgctggtctcgctgctgctggccttcttcgtggcc
tctctgttctgcgtcgggcccctcccatgcacgctgctgctcaccctgggctatgtcctc
tacgcctctgccatgacactgctgaccgagcgggggaagctgcaccagccctga

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