Home

Search

Browse

Statistics

User guide

FAQs

Links

Questions

Contribute

Download

Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for SMPD1 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 6609 Official gene symbol SMPD1 Full name sphingomyelin phosphodiesterase 1, acid lysosomal Aliases ,ASM,NPD, Gene summary The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq] Location Chromosome: 11   Locus: 11p15.4-p15.1 Gene position 6411644 - 6416228  Map Viewer Gene orientation plus Gene size 4585 bp Gene sequence >SMPD1:6351644..6356228:Length=4585 AGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGC AGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGG GCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCG CGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGC AGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGC TGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGG CAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCC GGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCA CCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAA GGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCT GATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCAT GGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAG TGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGA AGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGC ACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGT GGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCT CCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAA TCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGA CATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCT GGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGT GCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCAT CCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTG TGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGC CGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTT GAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGC ACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGC ACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAG CACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCT CTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCT CAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGG GAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCA TTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTT TTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGG CTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGA CCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCAC TACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACT ACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAC CATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCA AAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACT CTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTG TGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGT TTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCT AGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGT CACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGG TGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAG GATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGC TCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGA GAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGG GGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGT GGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTA TTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAG CCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTA CCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTC TGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTG GGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCC TGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCT ATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCC AGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAG GTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGT GCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCC TGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGAT GTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTT GCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTG GACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCAC TGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCC TGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTT CTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACT CTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCA GATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCC AGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCT GTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCC GGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTG GCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGT AGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGT GCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAAT AAAGATAAGAGACTTGGACTCCAGA OMIM ID 607608