| Entry |
|
| Gene name |
ASAH1, AC, ACDase, ASAH, PHP, PHP32, SMAPME
|
| Definition |
N-acylsphingosine amidohydrolase (acid ceramidase) 1 (EC:3.5.1.23)
|
| Orthology |
|
| Organism |
|
| Pathway |
| Sphingolipid metabolism | | Metabolic pathways | | Lysosome |
|
| Module |
|
| Disease |
| Farber lipogranulomatosis |
|
| Class |
Metabolism; Lipid metabolism; Sphingolipid metabolism [PATH: hsa00600]
Cellular Processes; Transport and catabolism; Lysosome [PATH: hsa04142]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Position |
8p22
|
| AA seq |
389 aa  
MNCCIGLGEKARGSHRASYPSLSALFTEASILGFGSFAVKAQWTEDCRKSTYPPSGPTVF
PAVIRYRGAVPWYTINLDLPPYKRWHELMLDKAPVPGLLGNFPGPFEEEMKGIAAVTDIP
LGEIISFNIFYELFTICTSIVAEDKKGHLIHGRNMDFGVFLGWNINNDTWVITEQLKPLT
VNLDFQRNNKTVFKASSFAGYVGMLTGFKPGLFSLTLNERFSINGGYLGILEWILGKKDV
MWIGFLTRTVLENSTSYEEAKNLLTKTKILAPAYFILGGNQSGEGCVITRDRKESLDVYE
LDAKQGRWYVVQTNYDRWKHPFFLDDRRTPAKMCLNRTSQENISFETMYDVLSTKPVLNK
LTVYTTLIDVTKGQFETYLRDCPDPCIGW |
| NT seq |
1170 nt  +upstreamnt +downstreamnt
atgaactgctgcatcgggctgggagagaaagctcgcgggtcccaccgggcctcctaccca
agtctcagcgcgcttttcaccgaggcctcaattctgggatttggcagctttgctgtgaaa
gcccaatggacagaggactgcagaaaatcaacctatcctccttcaggaccaactgtcttc
cctgctgttataaggtacagaggtgcagttccatggtacaccataaatcttgacttacca
ccctacaaaagatggcatgaattgatgcttgacaaggcaccagtgcctggcctacttggc
aactttcctggcccttttgaagaggaaatgaagggtattgccgctgttactgatatacct
ttaggagagattatttcattcaatattttttatgaattatttaccatttgtacttcaata
gtagcagaagacaaaaaaggtcatctaatacatgggagaaacatggattttggagtattt
cttgggtggaacataaataatgatacctgggtcataactgagcaactaaaacctttaaca
gtgaatttggatttccaaagaaacaacaaaactgtcttcaaggcttcaagctttgctggc
tatgtgggcatgttaacaggattcaaaccaggactgttcagtcttacactgaatgaacgt
ttcagtataaatggtggttatctgggtattctagaatggattctgggaaagaaagatgtc
atgtggatagggttcctcactagaacagttctggaaaatagcacaagttatgaagaagcc
aagaatttattgaccaagaccaagatattggccccagcctactttatcctgggaggcaac
cagtctggggaaggttgtgtgattacacgagacagaaaggaatcattggatgtatatgaa
ctcgatgctaagcagggtagatggtatgtggtacaaacaaattatgaccgttggaaacat
cccttcttccttgatgatcgcagaacgcctgcaaagatgtgtctgaaccgcaccagccaa
gagaatatctcatttgaaaccatgtatgatgtcctgtcaacaaaacctgtcctcaacaag
ctgaccgtatacacaaccttgatagatgttaccaaaggtcaattcgaaacttacctgcgg
gactgccctgacccttgtataggttggtga |