KEGG   Homo sapiens (human): 166929
Entry
166929            CDS       T01001                                 
Symbol
SGMS2, CDL, SMS2
Name
(RefSeq) sphingomyelin synthase 2
  KO
K04714  sphingomyelin synthase / ceramide phosphoethanolamine synthase / phosphatidylethanolamine phospholipase C [EC:2.7.8.27 2.7.8.48 3.1.4.62]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00564  Glycerophospholipid metabolism
hsa00600  Sphingolipid metabolism
hsa01100  Metabolic pathways
hsa04071  Sphingolipid signaling pathway
Disease
H02395  Calvarial doughnut lesions with bone fragility
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00564 Glycerophospholipid metabolism
    166929 (SGMS2)
   00600 Sphingolipid metabolism
    166929 (SGMS2)
 09130 Environmental Information Processing
  09132 Signal transduction
   04071 Sphingolipid signaling pathway
    166929 (SGMS2)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.8  Transferases for other substituted phosphate groups
    2.7.8.27  sphingomyelin synthase
     166929 (SGMS2)
    2.7.8.48  ceramide phosphoethanolamine synthase
     166929 (SGMS2)
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.4  Phosphoric-diester hydrolases
    3.1.4.62  phosphatidylethanolamine phospholipase C
     166929 (SGMS2)
SSDB
Motif
Pfam: PAP2_C PAP2
Other DBs
NCBI-GeneID: 166929
NCBI-ProteinID: NP_001129729
OMIM: 611574
HGNC: 28395
Ensembl: ENSG00000164023
UniProt: Q8NHU3
LinkDB
Position
4:107824563..107915047
AA seq 365 aa
MDIIETAKLEEHLENQPSDPTNTYARPAEPVEEENKNGNGKPKSLSSGLRKGTKKYPDYI
QIAMPTESRNKFPLEWWKTGIAFIYAVFNLVLTTVMITVVHERVPPKELSPPLPDKFFDY
IDRVKWAFSVSEINGIILVGLWITQWLFLRYKSIVGRRFCFIIGTLYLYRCITMYVTTLP
VPGMHFQCAPKLNGDSQAKVQRILRLISGGGLSITGSHILCGDFLFSGHTVTLTLTYLFI
KEYSPRHFWWYHLICWLLSAAGIICILVAHEHYTIDVIIAYYITTRLFWWYHSMANEKNL
KVSSQTNFLSRAWWFPIFYFFEKNVQGSIPCCFSWPLSWPPGCFKSSCKKYSRVQKIGED
NEKST
NT seq 1098 nt   +upstreamnt  +downstreamnt
atggatatcatagagacagcaaaacttgaagaacatttggaaaatcaacccagtgatcct
acgaacacttatgcaagacccgctgaacctgttgaagaagaaaacaaaaatggcaatggt
aaacccaagagcttatccagtgggctgcgaaaaggcaccaaaaagtacccggactatatc
caaattgctatgcccactgaatcaaggaacaaatttccactagagtggtggaaaacgggc
attgccttcatatatgcagttttcaacctcgtcttgacaaccgtcatgatcacagttgta
catgagagggtccctcccaaggagcttagccctccactcccagacaagttttttgattac
attgatagggtgaaatgggcattttctgtatcagaaataaatgggattatattagttgga
ttatggatcacccagtggctgtttctgagatacaagtcaatagtgggacgcagattctgt
tttattattggaactttatacctgtatcgctgcattacaatgtatgttactactctacct
gtgcctggaatgcatttccagtgtgctccaaagctcaatggagactctcaggcaaaagtt
caacggattctacgattgatttctggtggtggattgtccataactggatcacatatctta
tgtggagacttcctcttcagcggtcacacggttacgctgacactgacttatttgttcatc
aaagaatattcgcctcgtcacttctggtggtatcatttaatctgctggctgctgagtgct
gccgggatcatctgcattcttgtagcacacgaacactacactatcgatgtgatcattgct
tattatatcacaacacgactgttttggtggtaccattcaatggccaatgaaaagaacttg
aaggtctcttcacagactaatttcttatctcgagcatggtggttccccatcttttatttt
tttgagaaaaatgtacaaggctcaattccttgctgcttctcctggccgctgtcttggcct
cctggctgcttcaaatcatcatgcaaaaagtattcacgggttcagaagattggtgaagac
aatgagaaatcgacctga

KEGG   Homo sapiens (human): 142891
Entry
142891            CDS       T01001                                 
Symbol
SAMD8, HEL-177, SMSr
Name
(RefSeq) sterile alpha motif domain containing 8
  KO
K22697  ceramide phosphoethanolamine synthase / phosphatidylethanolamine phospholipase C [EC:2.7.8.48 3.1.4.62]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00564  Glycerophospholipid metabolism
hsa00600  Sphingolipid metabolism
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00564 Glycerophospholipid metabolism
    142891 (SAMD8)
   00600 Sphingolipid metabolism
    142891 (SAMD8)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    142891 (SAMD8)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.8  Transferases for other substituted phosphate groups
    2.7.8.48  ceramide phosphoethanolamine synthase
     142891 (SAMD8)
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.4  Phosphoric-diester hydrolases
    3.1.4.62  phosphatidylethanolamine phospholipase C
     142891 (SAMD8)
Membrane trafficking [BR:hsa04131]
 Endoplasmic reticulum (ER) - Golgi transport
  Others
   Others
    142891 (SAMD8)
SSDB
Motif
Pfam: PAP2_C SAM_1 SAM_PNT SAM_2 Mpv17_PMP22
Other DBs
NCBI-GeneID: 142891
NCBI-ProteinID: NP_001167627
OMIM: 611575
HGNC: 26320
Ensembl: ENSG00000156671
UniProt: Q96LT4
Structure
LinkDB
Position
10:75099593..75182123
AA seq 415 aa
MAGPNQLCIRRWTTKHVAVWLKDEGFFEYVDILCNKHRLDGITLLTLTEYDLRSPPLEIK
VLGDIKRLMLSVRKLQKIHIDVLEEMGYNSDSPMGSMTPFISALQSTDWLCNGELSHDCD
GPITDLNSDQYQYMNGKNKHSVRRLDPEYWKTILSCIYVFIVFGFTSFIMVIVHERVPDM
QTYPPLPDIFLDSVPRIPWAFAMTEVCGMILCYIWLLVLLLHKHRSILLRRLCSLMGTVF
LLRCFTMFVTSLSVPGQHLQCTGKIYGSVWEKLHRAFAIWSGFGMTLTGVHTCGDYMFSG
HTVVLTMLNFFVTEYTPRSWNFLHTLSWVLNLFGIFFILAAHEHYSIDVFIAFYITTRLF
LYYHTLANTRAYQQSRRARIWFPMFSFFECNVNGTVPNEYCWPFSKPAIMKRLIG
NT seq 1248 nt   +upstreamnt  +downstreamnt
atggcaggtcctaatcaactctgcattcgccgctggactaccaagcatgtagctgtgtgg
ctgaaggatgaaggcttttttgaatatgtggacattttatgcaataagcaccgacttgat
ggaatcacattgctaacattgactgaatatgatctccggtctcctcctctggaaatcaaa
gtcttaggggacattaaaaggttaatgctctcagtccgaaaattgcagaaaatacatatt
gatgttttagaagagatgggctacaacagtgacagtcccatgggttccatgacccctttc
atcagtgctcttcagagtacagactggctctgtaatggggagctttcccatgactgtgac
ggacccataactgacttgaattctgatcagtaccagtacatgaatggtaaaaacaaacat
tctgttcgaagattggacccagaatactggaagactatactgagttgtatatatgttttt
atagtatttggatttacatctttcattatggttatagtccatgagcgagtgcctgacatg
cagacctatccaccactcccagatatattcttagacagcgttcctagaatcccatgggcc
tttgccatgacggaagtatgtggcatgattctgtgctatatttggctcctggttcttctt
cttcacaagcacaggtcaatacttctgcgaaggctctgtagtctgatgggaactgtattc
ttgcttcgctgctttaccatgtttgtgacctccctctccgtgccaggacaacacctgcag
tgtactggaaagatatatggcagtgtatgggagaaattacatcgagcctttgccatttgg
agtggctttggtatgaccctgactggcgttcacacatgtggagattacatgtttagtggc
cacacagtcgtcctaactatgctgaatttctttgtcaccgaatatacaccaagaagctgg
aatttcttgcacactttatcctgggttctcaacctctttggaatcttcttcatcttggct
gcccatgaacattattctattgatgtgtttattgctttttatataacaacaagactcttt
ttgtactaccatactctggccaataccagagcatatcagcagagtaggagagcaaggatt
tggtttcccatgttctctttttttgaatgcaatgttaatggcacagtacctaatgaatat
tgttggccattttcaaaaccagcaataatgaaaagactaattggatga

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