KEGG   Homo sapiens (human): 166929
Entry
166929            CDS       T01001                                 
Symbol
SGMS2, CDL, SMS2
Name
(RefSeq) sphingomyelin synthase 2
  KO
K04714  shingomyelin synthase [EC:2.7.8.27]
Organism
hsa  Homo sapiens (human)
Pathway
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
   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)
SSDB
Motif
Pfam: PAP2_C PAP2
Other DBs
NCBI-GeneID: 166929
NCBI-ProteinID: NP_001129729
OMIM: 611574
HGNC: 28395
Ensembl: ENSG00000164023
Pharos: Q8NHU3(Tbio)
UniProt: Q8NHU3 A0A024RDH4
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): 259230
Entry
259230            CDS       T01001                                 
Symbol
SGMS1, MOB, MOB1, SMS1, TMEM23, hmob33
Name
(RefSeq) sphingomyelin synthase 1
  KO
K04714  shingomyelin synthase [EC:2.7.8.27]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00600  Sphingolipid metabolism
hsa01100  Metabolic pathways
hsa04071  Sphingolipid signaling pathway
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00600 Sphingolipid metabolism
    259230 (SGMS1)
 09130 Environmental Information Processing
  09132 Signal transduction
   04071 Sphingolipid signaling pathway
    259230 (SGMS1)
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
     259230 (SGMS1)
SSDB
Motif
Pfam: PAP2_C SAM_3 PAP2 SAM_1 UPF0220 SAM_PNT SAM_2 PAP2_3
Other DBs
NCBI-GeneID: 259230
NCBI-ProteinID: NP_671512
OMIM: 611573
HGNC: 29799
Ensembl: ENSG00000198964
Pharos: Q86VZ5(Tbio)
UniProt: Q86VZ5
LinkDB
Position
10:complement(50305600..50625184)
AA seq 413 aa
MKEVVYWSPKKVADWLLENAMPEYCEPLEHFTGQDLINLTQEDFKKPPLCRVSSDNGQRL
LDMIETLKMEHHLEAHKNGHANGHLNIGVDIPTPDGSFSIKIKPNGMPNGYRKEMIKIPM
PELERSQYPMEWGKTFLAFLYALSCFVLTTVMISVVHERVPPKEVQPPLPDTFFDHFNRV
QWAFSICEINGMILVGLWLIQWLLLKYKSIISRRFFCIVGTLYLYRCITMYVTTLPVPGM
HFNCSPKLFGDWEAQLRRIMKLIAGGGLSITGSHNMCGDYLYSGHTVMLTLTYLFIKEYS
PRRLWWYHWICWLLSVVGIFCILLAHDHYTVDVVVAYYITTRLFWWYHTMANQQVLKEAS
QMNLLARVWWYRPFQYFEKNVQGIVPRSYHWPFPWPVVHLSRQVKYSRLVNDT
NT seq 1242 nt   +upstreamnt  +downstreamnt
atgaaggaagtggtttattggtcacccaagaaggtggcagactggctgctggagaatgct
atgccagaatactgtgagcctctggagcatttcacaggccaggacttgatcaacctaacc
caagaggatttcaaaaaaccccccttgtgccgagtctcctctgacaatgggcagcggctc
ctggacatgatagaaaccctgaaaatggagcaccatttggaagcacacaagaacggccat
gccaatgggcacctcaacattggcgtagacatccccacccccgacggcagcttcagcatc
aagattaaacccaacgggatgccaaatgggtataggaaagagatgataaagatccccatg
ccagaactggagcgctctcagtaccccatggagtggggcaagacttttctggcctttctt
tatgcactttcctgtttcgttctcaccacagtgatgatctcggtcgtccacgaacgagta
cctcctaaggaggtgcagcctccactaccggacacattttttgaccattttaaccgggtg
cagtgggccttttctatttgtgaaattaatggcatgatccttgtaggactctggttaatt
cagtggctgctcttaaaatacaagtctattattagcagaagatttttctgcatagttggc
acgctgtacctgtatcggtgtattacaatgtatgtaactacactcccagtacctggtatg
catttcaactgttctccgaagcttttcggagactgggaagcccaactgcgaagaataatg
aagctcattgctggaggtggcttgtctatcactggctctcacaacatgtgtggggactat
ctgtacagcggccacacggtcatgctaacacttacctacttatttatcaaagagtattcc
cctcggcgactctggtggtatcactggatttgctggcttctcagcgtagttggaatcttc
tgtattctcttagcgcatgaccactacactgtggacgtggtggtggcatattacatcacc
acgagactcttctggtggtatcacactatggccaatcagcaagtgctaaaggaagcttcc
cagatgaacctcctggccagggtgtggtggtacaggccatttcagtactttgaaaagaat
gtccaaggaattgtacctcgatcttaccattggcctttcccctggccagtagtccacctc
agtaggcaagttaaatacagccggctggtgaatgacacataa

DBGET integrated database retrieval system