KEGG   Homo sapiens (human): 6609Help
Entry
6609              CDS       T01001                                 

Gene name
SMPD1, ASM, ASMASE, NPD
Definition
sphingomyelin phosphodiesterase 1, acid lysosomal (EC:3.1.4.12)
Orthology
K12350  
sphingomyelin phosphodiesterase [EC:3.1.4.12]
Organism
hsa  Homo sapiens (human)
Pathway
Sphingolipid metabolism
Metabolic pathways
Lysosome
Disease
H00137  
Niemann-Pick disease (NPD) typeA and B
H00424  
Defects in the degradation of sphingomyelin
Class
Metabolism; Lipid metabolism; Sphingolipid metabolism [PATH:hsa00600]
Cellular Processes; Transport and catabolism; Lysosome [PATH:hsa04142]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
LinkDB All DBs
Position
11p15.4-p15.1
AA seq 631 aa AA seqDB search
MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLVLALALALALALALSDSRVLWAPAE
AHPLSPQGHPARLHRIVPRLRDVFGWGNLTCPICKGLFTAINLGLKKEPNVARVGSVAIK
LCNLLKIAPPAVCQSIVHLFEDDMVEVWRRSVLSPSEACGLLLGSTCGHWDIFSSWNISL
PTVPKPPPKPPSPPAPGAPVSRILFLTDLHWDHDYLEGTDPDCADPLCCRRGSGLPPASR
PGAGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWTGDIPAHDVWHQTRQDQLRALTT
VTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEAL
RTLRIGGFYALSPYPGLRLISLNMNFCSRENFWLLINSTDPAGQLQWLVGELQAAEDRGD
KVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAV
AFLAPSATTYIGLNPGYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYR
ARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEPCGTPCRLATLCAQLS
ARADSPALCRHLMPDGSLPEAQSLWPRPLFC
NT seq 1896 nt NT seq  +upstreamnt  +downstreamnt
atgccccgctacggagcgtcactccgccagagctgccccaggtccggccgggagcaggga
caagacgggaccgccggagcccccggactcctttggatgggcctggtgctggcgctggcg
ctggcgctggcgctggcgctggctctgtctgactctcgggttctctgggctccggcagag
gctcaccctctttctccccaaggccatcctgccaggttacatcgcatagtgccccggctc
cgagatgtctttgggtgggggaacctcacctgcccaatctgcaaaggtctattcaccgcc
atcaacctcgggctgaagaaggaacccaatgtggctcgcgtgggctccgtggccatcaag
ctgtgcaatctgctgaagatagcaccacctgccgtgtgccaatccattgtccacctcttt
gaggatgacatggtggaggtgtggagacgctcagtgctgagcccatctgaggcctgtggc
ctgctcctgggctccacctgtgggcactgggacattttctcatcttggaacatctctttg
cctactgtgccgaagccgccccccaaaccccctagccccccagccccaggtgcccctgtc
agccgcatcctcttcctcactgacctgcactgggatcatgactacctggagggcacggac
cctgactgtgcagacccactgtgctgccgccggggttctggcctgccgcccgcatcccgg
ccaggtgccggatactggggcgaatacagcaagtgtgacctgcccctgaggaccctggag
agcctgttgagtgggctgggcccagccggcccttttgatatggtgtactggacaggagac
atccccgcacatgatgtctggcaccagactcgtcaggaccaactgcgggccctgaccacc
gtcacagcacttgtgaggaagttcctggggccagtgccagtgtaccctgctgtgggtaac
catgaaagcacacctgtcaatagcttccctccccccttcattgagggcaaccactcctcc
cgctggctctatgaagcgatggccaaggcttgggagccctggctgcctgccgaagccctg
cgcaccctcagaattggggggttctatgctctttccccataccccggtctccgcctcatc
tctctcaatatgaatttttgttcccgtgagaacttctggctcttgatcaactccacggat
cccgcaggacagctccagtggctggtgggggagcttcaggctgctgaggatcgaggagac
aaagtgcatataattggccacattcccccagggcactgtctgaagagctggagctggaat
tattaccgaattgtagccaggtatgagaacaccctggctgctcagttctttggccacact
catgtggatgaatttgaggtcttctatgatgaagagactctgagccggccgctggctgta
gccttcctggcacccagtgcaactacctacatcggccttaatcctggttaccgtgtgtac
caaatagatggaaactactccgggagctctcacgtggtcctggaccatgagacctacatc
ctgaatctgacccaggcaaacataccgggagccataccgcactggcagcttctctacagg
gctcgagaaacctatgggctgcccaacacactgcctaccgcctggcacaacctggtatat
cgcatgcggggcgacatgcaacttttccagaccttctggtttctctaccataagggccac
ccaccctcggagccctgtggcacgccctgccgtctggctactctttgtgcccagctctct
gcccgtgctgacagccctgctctgtgccgccacctgatgccagatgggagcctcccagag
gcccagagcctgtggccaaggccactgttttgctag

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