InnateDB Protein
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IDBP-8961.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ASAH1
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Protein Name
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N-acylsphingosine amidohydrolase (acid ceramidase) 1
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Synonyms
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AC; ACDase; ASAH; PHP; PHP32; SMAPME;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000262097
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InnateDB Gene
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IDBG-8951 (ASAH1)
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Protein Structure
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Function |
Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid.
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Subcellular Localization |
Lysosome.
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Disease Associations |
Farber lipogranulomatosis (FL) [MIM:228000]: Sphingolipid disease characterized by subcutaneous lipid-loaded nodules, excruciating pain in the joints and extremities, marked accumulation of ceramide in lysosomes, and death by three years of age. {ECO:0000269PubMed:10610716, ECO:0000269PubMed:10993717, ECO:0000269PubMed:11241842, ECO:0000269PubMed:12638942, ECO:0000269PubMed:16951918, ECO:0000269PubMed:8955159}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME) [MIM:159950]: An autosomal recessive neuromuscular disorder characterized by childhood onset of motor deficits and progressive myoclonic seizures, after normal developmental milestones. Proximal muscle weakness and generalized muscular atrophy are due to degeneration of spinal motor neurons. Myoclonic epilepsy is generally resistant to conventional therapy. The disease course is progressive and leads to respiratory muscle involvement and severe handicap or early death from respiratory insufficiency. {ECO:0000269PubMed:22703880}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Broadly expressed with highest expression in heart.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
11
[view]
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Protein-Protein |
11
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR016699
Acid ceramidase-like
IPR029055
Nucleophile aminohydrolases, N-terminal
IPR029132
Choloylglycine hydrolase/NAAA C-terminal
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PFAM |
PF02275
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PRINTS |
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PIRSF |
PIRSF017632
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q13510
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PhosphoSite |
PhosphoSite-Q13510
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TrEMBL |
B1B5R9
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UniProt Splice Variant |
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Entrez Gene |
427
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UniGene |
Hs.738809
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RefSeq |
NP_808592
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HUGO |
HGNC:735
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OMIM |
613468
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CCDS |
CCDS6006
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HPRD |
01969
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IMGT |
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EMBL |
AB371370
AB371371
AB371372
AB371373
AB371375
AB371376
AB371379
AB371380
AB371381
AB371382
AB371383
AB371384
AB371386
AC124242
AF220172
AF220173
AF220175
AY305384
BC016481
BC016828
U47674
U70063
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GenPept |
AAC50907
AAC73009
AAF91230
AAH16481
AAH16828
AAQ75550
BAG12319
BAG12320
BAG12321
BAG12322
BAG12323
BAG12324
BAG12327
BAG12329
BAG12333
BAG12335
BAG12336
BAG12337
BAG12339
BAG12340
BAG12342
BAG12343
BAG12345
BAG12346
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