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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr8:17,913,925-17,941,879)mRNA (may differ from genome)Protein (395 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Acid ceramidase; Short=AC; Short=ACDase; Short=Acid CDase; EC=; 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.
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="";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ASAH1
CDC HuGE Published Literature: ASAH1

-  MalaCards Disease Associations
  MalaCards Gene Search: ASAH1
Diseases sorted by gene-association score: farber lipogranulomatosis* (1712), spinal muscular atrophy with progressive myoclonic epilepsy* (1703), jankovic rivera syndrome* (400), lipogranulomatosis (61), muscular atrophy (31), spinal muscular atrophy (22), cerebral arterial disease (10), hematocele of tunica vaginalis testis (9), epilepsy (7), cerebral degeneration (7), stroke, ischemic (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 140.65 RPKM in Heart - Left Ventricle
Total median expression: 2357.84 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -145.00312-0.465 Picture PostScript Text
3' UTR -283.691118-0.254 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016699 - Acid_ceramidase-like
IPR003199 - Chologlycine_hydro

Pfam Domains:
PF02275 - Linear amide C-N hydrolases, choloylglycine hydrolase family
PF15508 - beta subunit of N-acylethanolamine-hydrolyzing acid amidase

SCOP Domains:
56235 - N-terminal nucleophile aminohydrolases (Ntn hydrolases)

ModBase Predicted Comparative 3D Structure on Q13510
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Protein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0016787 hydrolase activity
GO:0017040 ceramidase activity

Biological Process:
GO:0006629 lipid metabolic process
GO:0006672 ceramide metabolic process
GO:0006687 glycosphingolipid metabolic process
GO:0043312 neutrophil degranulation

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005764 lysosome
GO:0043202 lysosomal lumen
GO:0070062 extracellular exosome
GO:1904724 tertiary granule lumen
GO:1904813 ficolin-1-rich granule lumen

-  Descriptions from all associated GenBank mRNAs
  LF208096 - JP 2014500723-A/15599: Polycomb-Associated Non-Coding RNAs.
U70063 - Human acid ceramidase mRNA, complete cds.
U47674 - Homo sapiens putative heart protein PHP mRNA, complete cds.
AK098299 - Homo sapiens cDNA FLJ40980 fis, clone UTERU2014464, highly similar to ACID CERAMIDASE PRECURSOR (EC
BC016481 - Homo sapiens N-acylsphingosine amidohydrolase (acid ceramidase) 1, mRNA (cDNA clone MGC:9327 IMAGE:3923451), complete cds.
AK025732 - Homo sapiens cDNA: FLJ22079 fis, clone HEP13180, highly similar to HSU70063 Human acid ceramidase mRNA.
LF372183 - JP 2014500723-A/179686: Polycomb-Associated Non-Coding RNAs.
JD325533 - Sequence 306557 from Patent EP1572962.
JD374995 - Sequence 356019 from Patent EP1572962.
JD278118 - Sequence 259142 from Patent EP1572962.
AK222780 - Homo sapiens mRNA for N-acylsphingosine amidohydrolase (acid ceramidase) 1 preproprotein isoform a variant, clone: HEP00906.
LF372184 - JP 2014500723-A/179687: Polycomb-Associated Non-Coding RNAs.
BC016828 - Homo sapiens N-acylsphingosine amidohydrolase (acid ceramidase) 1, mRNA (cDNA clone MGC:24572 IMAGE:4109317), complete cds.
JD404385 - Sequence 385409 from Patent EP1572962.
JD378876 - Sequence 359900 from Patent EP1572962.
JD562327 - Sequence 543351 from Patent EP1572962.
LF372185 - JP 2014500723-A/179688: Polycomb-Associated Non-Coding RNAs.
JD301678 - Sequence 282702 from Patent EP1572962.
BC035453 - Homo sapiens N-acylsphingosine amidohydrolase (acid ceramidase) 1, mRNA (cDNA clone IMAGE:3918355).
AY305384 - Homo sapiens HSD-33 mRNA, complete cds.
JD462459 - Sequence 443483 from Patent EP1572962.
JD168706 - Sequence 149730 from Patent EP1572962.
JD127449 - Sequence 108473 from Patent EP1572962.
LF372186 - JP 2014500723-A/179689: Polycomb-Associated Non-Coding RNAs.
AK289481 - Homo sapiens cDNA FLJ77858 complete cds, highly similar to Homo sapiens N-acylsphingosine amidohydrolase (acid ceramidase) 1 (ASAH1), transcript variant 1, mRNA.
KJ896463 - Synthetic construct Homo sapiens clone ccsbBroadEn_05857 ASAH1 gene, encodes complete protein.
KR709416 - Synthetic construct Homo sapiens clone CCSBHm_00002021 ASAH1 (ASAH1) mRNA, encodes complete protein.
KR709417 - Synthetic construct Homo sapiens clone CCSBHm_00002023 ASAH1 (ASAH1) mRNA, encodes complete protein.
KR709418 - Synthetic construct Homo sapiens clone CCSBHm_00002027 ASAH1 (ASAH1) mRNA, encodes complete protein.
KR709419 - Synthetic construct Homo sapiens clone CCSBHm_00002030 ASAH1 (ASAH1) mRNA, encodes complete protein.
KJ896462 - Synthetic construct Homo sapiens clone ccsbBroadEn_05856 ASAH1 gene, encodes complete protein.
DQ891071 - Synthetic construct clone IMAGE:100003701; FLH169070.01X; RZPDo839G0294D N-acylsphingosine amidohydrolase (acid ceramidase) 1 (ASAH1) gene, encodes complete protein.
DQ894254 - Synthetic construct Homo sapiens clone IMAGE:100008714; FLH169066.01L; RZPDo839G0293D N-acylsphingosine amidohydrolase (acid ceramidase) 1 (ASAH1) gene, encodes complete protein.
AB528408 - Synthetic construct DNA, clone: pF1KB5364, Homo sapiens ASAH1 gene for Acid ceramidase Precursor, without stop codon, in Flexi system.
LF372187 - JP 2014500723-A/179690: Polycomb-Associated Non-Coding RNAs.
LF372190 - JP 2014500723-A/179693: Polycomb-Associated Non-Coding RNAs.
LF372191 - JP 2014500723-A/179694: Polycomb-Associated Non-Coding RNAs.
CU677731 - Synthetic construct Homo sapiens gateway clone IMAGE:100017634 5' read ASAH1 mRNA.
LF372192 - JP 2014500723-A/179695: Polycomb-Associated Non-Coding RNAs.
LF372193 - JP 2014500723-A/179696: Polycomb-Associated Non-Coding RNAs.
CU677637 - Synthetic construct Homo sapiens gateway clone IMAGE:100019217 5' read ASAH1 mRNA.
AK025211 - Homo sapiens cDNA: FLJ21558 fis, clone COL06372.
LF372195 - JP 2014500723-A/179698: Polycomb-Associated Non-Coding RNAs.
LF372197 - JP 2014500723-A/179700: Polycomb-Associated Non-Coding RNAs.
LF372201 - JP 2014500723-A/179704: Polycomb-Associated Non-Coding RNAs.
LF372202 - JP 2014500723-A/179705: Polycomb-Associated Non-Coding RNAs.
LF372212 - JP 2014500723-A/179715: Polycomb-Associated Non-Coding RNAs.
LF372220 - JP 2014500723-A/179723: Polycomb-Associated Non-Coding RNAs.
JD226901 - Sequence 207925 from Patent EP1572962.
JD261646 - Sequence 242670 from Patent EP1572962.
MA607760 - JP 2018138019-A/179686: Polycomb-Associated Non-Coding RNAs.
MA607761 - JP 2018138019-A/179687: Polycomb-Associated Non-Coding RNAs.
MA607762 - JP 2018138019-A/179688: Polycomb-Associated Non-Coding RNAs.
MA607763 - JP 2018138019-A/179689: Polycomb-Associated Non-Coding RNAs.
MA607764 - JP 2018138019-A/179690: Polycomb-Associated Non-Coding RNAs.
MA607767 - JP 2018138019-A/179693: Polycomb-Associated Non-Coding RNAs.
MA607768 - JP 2018138019-A/179694: Polycomb-Associated Non-Coding RNAs.
MA607769 - JP 2018138019-A/179695: Polycomb-Associated Non-Coding RNAs.
MA607770 - JP 2018138019-A/179696: Polycomb-Associated Non-Coding RNAs.
MA607772 - JP 2018138019-A/179698: Polycomb-Associated Non-Coding RNAs.
MA607774 - JP 2018138019-A/179700: Polycomb-Associated Non-Coding RNAs.
MA607778 - JP 2018138019-A/179704: Polycomb-Associated Non-Coding RNAs.
MA607779 - JP 2018138019-A/179705: Polycomb-Associated Non-Coding RNAs.
MA607789 - JP 2018138019-A/179715: Polycomb-Associated Non-Coding RNAs.
MA607797 - JP 2018138019-A/179723: Polycomb-Associated Non-Coding RNAs.
MA443673 - JP 2018138019-A/15599: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00600 - Sphingolipid metabolism
hsa01100 - Metabolic pathways
hsa04142 - Lysosome

BioCarta from NCI Cancer Genome Anatomy Project
h_edg1Pathway - Phospholipids as signalling intermediaries

Reactome (by CSHL, EBI, and GO)

Protein Q13510 (Reactome details) participates in the following event(s):

R-HSA-6800434 Exocytosis of ficolin-rich granule lumen proteins
R-HSA-6798745 Exocytosis of tertiary granule lumen proteins
R-HSA-1606602 Acid ceramidase hydrolyses ceramide into sphingosine and free fatty acid (lysosome)
R-HSA-6798695 Neutrophil degranulation
R-HSA-1660662 Glycosphingolipid metabolism
R-HSA-168249 Innate Immune System
R-HSA-428157 Sphingolipid metabolism
R-HSA-168256 Immune System
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ASAH, ASAH1_HUMAN, HSD-33, HSD33, NM_177924, NP_808592, Q13510, Q6W898
UCSC ID: uc003wyl.2
RefSeq Accession: NM_177924
Protein: Q13510 (aka ASAH1_HUMAN or ASAH_HUMAN)
CCDS: CCDS6006.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ASAH1:
asah1 (ASAH1-Related Disorders)

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_177924.3
exon count: 14CDS single in 3' UTR: no RNA size: 2618
ORF size: 1188CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2409.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.