Human Gene ASAH1 (uc003wyl.2) Description and Page Index
Description: Homo sapiens N-acylsphingosine amidohydrolase (acid ceramidase) 1 (ASAH1), transcript variant 1, mRNA. RefSeq Summary (NM_177924): This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]. Transcript (Including UTRs) Position: hg19 chr8:17,913,925-17,941,879 Size: 27,955 Total Exon Count: 14 Strand: - Coding Region Position: hg19 chr8:17,915,043-17,941,567 Size: 26,525 Coding Exon Count: 14
ID:ASAH1_HUMAN DESCRIPTION: RecName: Full=Acid ceramidase; Short=AC; Short=ACDase; Short=Acid CDase; EC=220.127.116.11; AltName: Full=Acylsphingosine deacylase; AltName: Full=N-acylsphingosine amidohydrolase; AltName: Full=Putative 32 kDa heart protein; Short=PHP32; Contains: RecName: Full=Acid ceramidase subunit alpha; Contains: RecName: Full=Acid ceramidase subunit beta; Flags: Precursor; FUNCTION: Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. CATALYTIC ACTIVITY: N-acylsphingosine + H(2)O = a carboxylate + sphingosine. SUBUNIT: Heterodimer of one alpha and one beta subunit. SUBCELLULAR LOCATION: Lysosome. TISSUE SPECIFICITY: Broadly expressed with highest expression in heart. DISEASE: Defects in ASAH1 are the cause of Farber lipogranulomatosis (FL) [MIM:228000]; also known as Farber disease (FD). This sphingolipid disease is 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. DISEASE: Defects in ASAH1 are the cause of 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. SIMILARITY: Belongs to the acid ceramidase family. SEQUENCE CAUTION: Sequence=AAC73009.1; Type=Frameshift; Positions=15, 21; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ASAH1";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): ASAH1 CDC HuGE Published Literature: ASAH1
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q13510
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.