Homo sapiens (human): 166929 Help Entry 166929            CDS       T01001                                  Symbol SGMS2, CDL, SMS2 Name (RefSeq) sphingomyelin synthase 2   KO K04714   sphingomyelin synthase / phosphatidylethanolamine phospholipase C [EC:2.7.8.27 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)  3. Hydrolases   3.1  Acting on ester bonds    3.1.4  Phosphoric-diester hydrolases     3.1.4.62  phosphatidylethanolamine phospholipase C      166929 (SGMS2) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  PAP2_C PAP2 Motif Other DBs NCBI-GeneID:  166929 NCBI-ProteinID:  NP_001129729 OMIM:  611574 HGNC:  28395 Ensembl:  ENSG00000164023 Pharos:  Q8NHU3(Tbio) UniProt:  Q8NHU3 LinkDB All DBs Position 4:107824563..107915047 Genome browser AA seq 365 aa AA seqDB search MDIIETAKLEEHLENQPSDPTNTYARPAEPVEEENKNGNGKPKSLSSGLRKGTKKYPDYI QIAMPTESRNKFPLEWWKTGIAFIYAVFNLVLTTVMITVVHERVPPKELSPPLPDKFFDY IDRVKWAFSVSEINGIILVGLWITQWLFLRYKSIVGRRFCFIIGTLYLYRCITMYVTTLP VPGMHFQCAPKLNGDSQAKVQRILRLISGGGLSITGSHILCGDFLFSGHTVTLTLTYLFI KEYSPRHFWWYHLICWLLSAAGIICILVAHEHYTIDVIIAYYITTRLFWWYHSMANEKNL KVSSQTNFLSRAWWFPIFYFFEKNVQGSIPCCFSWPLSWPPGCFKSSCKKYSRVQKIGED NEKST NT seq 1098 nt NT seq  +upstreamnt  +downstreamnt atggatatcatagagacagcaaaacttgaagaacatttggaaaatcaacccagtgatcct acgaacacttatgcaagacccgctgaacctgttgaagaagaaaacaaaaatggcaatggt aaacccaagagcttatccagtgggctgcgaaaaggcaccaaaaagtacccggactatatc caaattgctatgcccactgaatcaaggaacaaatttccactagagtggtggaaaacgggc attgccttcatatatgcagttttcaacctcgtcttgacaaccgtcatgatcacagttgta catgagagggtccctcccaaggagcttagccctccactcccagacaagttttttgattac attgatagggtgaaatgggcattttctgtatcagaaataaatgggattatattagttgga ttatggatcacccagtggctgtttctgagatacaagtcaatagtgggacgcagattctgt tttattattggaactttatacctgtatcgctgcattacaatgtatgttactactctacct gtgcctggaatgcatttccagtgtgctccaaagctcaatggagactctcaggcaaaagtt caacggattctacgattgatttctggtggtggattgtccataactggatcacatatctta tgtggagacttcctcttcagcggtcacacggttacgctgacactgacttatttgttcatc aaagaatattcgcctcgtcacttctggtggtatcatttaatctgctggctgctgagtgct gccgggatcatctgcattcttgtagcacacgaacactacactatcgatgtgatcattgct tattatatcacaacacgactgttttggtggtaccattcaatggccaatgaaaagaacttg aaggtctcttcacagactaatttcttatctcgagcatggtggttccccatcttttatttt tttgagaaaaatgtacaaggctcaattccttgctgcttctcctggccgctgtcttggcct cctggctgcttcaaatcatcatgcaaaaagtattcacgggttcagaagattggtgaagac aatgagaaatcgacctga

Homo sapiens (human): 259230 Help Entry 259230            CDS       T01001                                  Symbol SGMS1, MOB, MOB1, SMS1, TMEM23, hmob33 Name (RefSeq) sphingomyelin synthase 1   KO K04714   sphingomyelin synthase / phosphatidylethanolamine phospholipase C [EC:2.7.8.27 3.1.4.62] Organism hsa  Homo sapiens (human) Pathway hsa00564   Glycerophospholipid metabolism hsa00600   Sphingolipid metabolism hsa01100   Metabolic pathways hsa04071   Sphingolipid signaling pathway Brite KEGG Orthology (KO) [BR:hsa00001]  09100 Metabolism   09103 Lipid metabolism    00564 Glycerophospholipid metabolism     259230 (SGMS1)    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)  3. Hydrolases   3.1  Acting on ester bonds    3.1.4  Phosphoric-diester hydrolases     3.1.4.62  phosphatidylethanolamine phospholipase C      259230 (SGMS1) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  PAP2_C SAM_1 SAM_3 PAP2 SAM_PNT UPF0220 SAM_2 PAP2_3 Motif Other DBs NCBI-GeneID:  259230 NCBI-ProteinID:  NP_671512 OMIM:  611573 HGNC:  29799 Ensembl:  ENSG00000198964 Pharos:  Q86VZ5(Tbio) UniProt:  Q86VZ5 LinkDB All DBs Position 10:complement(50305600..50625184) Genome browser AA seq 413 aa AA seqDB search MKEVVYWSPKKVADWLLENAMPEYCEPLEHFTGQDLINLTQEDFKKPPLCRVSSDNGQRL LDMIETLKMEHHLEAHKNGHANGHLNIGVDIPTPDGSFSIKIKPNGMPNGYRKEMIKIPM PELERSQYPMEWGKTFLAFLYALSCFVLTTVMISVVHERVPPKEVQPPLPDTFFDHFNRV QWAFSICEINGMILVGLWLIQWLLLKYKSIISRRFFCIVGTLYLYRCITMYVTTLPVPGM HFNCSPKLFGDWEAQLRRIMKLIAGGGLSITGSHNMCGDYLYSGHTVMLTLTYLFIKEYS PRRLWWYHWICWLLSVVGIFCILLAHDHYTVDVVVAYYITTRLFWWYHTMANQQVLKEAS QMNLLARVWWYRPFQYFEKNVQGIVPRSYHWPFPWPVVHLSRQVKYSRLVNDT NT seq 1242 nt NT seq  +upstreamnt  +downstreamnt atgaaggaagtggtttattggtcacccaagaaggtggcagactggctgctggagaatgct atgccagaatactgtgagcctctggagcatttcacaggccaggacttgatcaacctaacc caagaggatttcaaaaaaccccccttgtgccgagtctcctctgacaatgggcagcggctc ctggacatgatagaaaccctgaaaatggagcaccatttggaagcacacaagaacggccat gccaatgggcacctcaacattggcgtagacatccccacccccgacggcagcttcagcatc aagattaaacccaacgggatgccaaatgggtataggaaagagatgataaagatccccatg ccagaactggagcgctctcagtaccccatggagtggggcaagacttttctggcctttctt tatgcactttcctgtttcgttctcaccacagtgatgatctcggtcgtccacgaacgagta cctcctaaggaggtgcagcctccactaccggacacattttttgaccattttaaccgggtg cagtgggccttttctatttgtgaaattaatggcatgatccttgtaggactctggttaatt cagtggctgctcttaaaatacaagtctattattagcagaagatttttctgcatagttggc acgctgtacctgtatcggtgtattacaatgtatgtaactacactcccagtacctggtatg catttcaactgttctccgaagcttttcggagactgggaagcccaactgcgaagaataatg aagctcattgctggaggtggcttgtctatcactggctctcacaacatgtgtggggactat ctgtacagcggccacacggtcatgctaacacttacctacttatttatcaaagagtattcc cctcggcgactctggtggtatcactggatttgctggcttctcagcgtagttggaatcttc tgtattctcttagcgcatgaccactacactgtggacgtggtggtggcatattacatcacc acgagactcttctggtggtatcacactatggccaatcagcaagtgctaaaggaagcttcc cagatgaacctcctggccagggtgtggtggtacaggccatttcagtactttgaaaagaat gtccaaggaattgtacctcgatcttaccattggcctttcccctggccagtagtccacctc agtaggcaagttaaatacagccggctggtgaatgacacataa

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