Homo sapiens (human): 166929 Help 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) 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 A0A024RDH4 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   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) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  PAP2_C SAM_3 PAP2 SAM_1 UPF0220 SAM_PNT 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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