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
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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Ontology (2)   
   KEGG BRITE (2)   
Pathway (2)   
   KEGG PATHWAY (2)   
Network (2)   
   KEGG NETWORK (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical substance (4)   
   KEGG COMPOUND (4)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (24)   
   KEGG ORTHOLOGY (1)   
   RefGene (10)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (8)   
   OC (1)   
Protein sequence (29)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (27)   
DNA sequence (74)   
   RefSeq(nuc) (30)   
   GenBank (22)   
   EMBL (22)   
Protein domain (1)   
   Pfam (1)   
All databases (144)   

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