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ASAH1 Gene(Protein Coding)

N-Acylsphingosine Amidohydrolase 1

GCID:
GC08M017958
GIFtS:
57
Genes Participants
UDN Logo

Aliases for ASAH1 Gene

Aliases for ASAH1 Gene

  • N-Acylsphingosine Amidohydrolase 1 2 3 5
  • Acylsphingosine Deacylase 2 3 4
  • Putative 32 KDa Heart Protein 3 4
  • Acid Ceramidase 2 3
  • EC 3.5.1.23 4 56
  • Acid CDase 3 4
  • ACDase 3 4
  • PHP32 3 4
  • ASAH 3 4
  • AC 3 4
  • N-Acylsphingosine Amidohydrolase (Acid Ceramidase) 1 3
  • N-Acylsphingosine Amidohydrolase (Acid Ceramidase) 2
  • N-Acylsphingosine Amidohydrolase 4
  • SMAPME 3
  • PHP 3

External Ids for ASAH1 Gene

Previous HGNC Symbols for ASAH1 Gene

  • ASAH

Previous GeneCards Identifiers for ASAH1 Gene

  • GC08M017790
  • GC08M017976
  • GC08M017924
  • GC08M016458

Summaries for ASAH1 Gene

Entrez Gene Summary for ASAH1 Gene

  • 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]

GeneCards Summary for ASAH1 Gene

ASAH1 (N-Acylsphingosine Amidohydrolase 1) is a Protein Coding gene. Diseases associated with ASAH1 include Farber Lipogranulomatosis and Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy. Among its related pathways are Innate Immune System and Metabolism. Gene Ontology (GO) annotations related to this gene include ceramidase activity. An important paralog of this gene is NAAA.

UniProtKB/Swiss-Prot for ASAH1 Gene

  • Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid.

Tocris Summary for ASAH1 Gene

  • Ceramidases (EC 3.5.1.23) are a group of enzymes which catalyze the hydrolysis of ceramides to produce sphingosine, which subsequently undergoes phosphorylation to generate sphingosine-1-phosphate (S1P).

Gene Wiki entry for ASAH1 Gene

Additional gene information for ASAH1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASAH1 Gene

Genomics for ASAH1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ASAH1 Gene

Promoters and enhancers for ASAH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH08I018081 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 569.9 +1.2 1183 4.7 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ASAH1 LOC101929066 MTUS1 PCM1
GH08I018067 Enhancer 1.3 Ensembl ENCODE dbSUPER 34.8 +16.5 16519 2.7 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 FOS ATF7 NCOA1 ASAH1 MTUS1 ENSG00000253671 LOC101929066 PCM1
GH08I018070 Enhancer 0.9 Ensembl ENCODE dbSUPER 34.5 +12.8 12845 2.9 GATA3 NFIC RFX1 IKZF1 ASAH1 ENSG00000253671 LOC101929066 PCM1
GH08I017921 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 9.9 +159.6 159576 8.1 MLX DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 ZNF610 GLIS1 PCM1 ENSG00000253671 MTUS1 ASAH1 FGL1 SLC7A2 GC08P017880 LOC101929066
GH08I018053 Enhancer 0.6 dbSUPER 36.6 +30.5 30469 2.8 PKNOX1 MTA2 TEAD4 TAL1 CBFA2T3 DPF2 TCF12 NCOR1 HDAC2 SCRT2 ASAH1 ENSG00000253671 LOC101929066 PCM1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ASAH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ASAH1 gene promoter:

Genomic Locations for ASAH1 Gene

Genomic Locations for ASAH1 Gene
chr8:18,055,992-18,084,998
(GRCh38/hg38)
Size:
29,007 bases
Orientation:
Minus strand
chr8:17,913,925-17,942,507
(GRCh37/hg19)

Genomic View for ASAH1 Gene

Genes around ASAH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASAH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASAH1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ASAH1 Gene

Proteins for ASAH1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ASAH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13510-ASAH1_HUMAN
    Recommended name:
    Acid ceramidase
    Protein Accession:
    Q13510
    Secondary Accessions:
    • E9PDS0
    • Q6W898
    • Q96AS2

    Protein attributes for ASAH1 Gene

    Size:
    395 amino acids
    Molecular mass:
    44660 Da
    Quaternary structure:
    • Heterodimer of one alpha and one beta subunit.
    SequenceCaution:
    • Sequence=AAC73009.1; Type=Frameshift; Positions=15, 21; Evidence={ECO:0000305};

    Alternative splice isoforms for ASAH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASAH1 Gene

Protein Expression for ASAH1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ASAH1 Gene

Q13510:
  • SGEGCVITR
  • DDRRTPA
  • LKVIVNS
  • TINLDLPPYKRWHEL
  • KLPGLLGNFPGPFEEEMKGIAAVT
  • HGRNMDFG
  • FLGWNINN
  • VLENSTSYEE
  • NGGYLGILEW
  • RKESLDVYELD
  • DVTKGQFE
  • TSYEEAKN

Post-translational modifications for ASAH1 Gene

  • Ubiquitination at posLast=9292
  • Glycosylation at Asn173, posLast=195195, Asn259, Asn286, posLast=342342, and Asn348
  • Modification sites at PhosphoSitePlus

Other Protein References for ASAH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ASAH1 Gene

Gene Families for ASAH1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for ASAH1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ASAH1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13510

UniProtKB/Swiss-Prot:

ASAH1_HUMAN :
  • Belongs to the acid ceramidase family.
Family:
  • Belongs to the acid ceramidase family.
genes like me logo Genes that share domains with ASAH1: view

Function for ASAH1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ASAH1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=149 uM for N-lauroylsphingosine {ECO:0000269 PubMed:7744740}; Vmax=136 nmol/h/mg enzyme with N-lauroylsphingosine as substrate {ECO:0000269 PubMed:7744740}; pH dependence: Optimum pH is 3.8-4.3 with N-lauroylsphingosine as substrate. {ECO:0000269 PubMed:7744740};
UniProtKB/Swiss-Prot CatalyticActivity:
N-acylsphingosine + H(2)O = a carboxylate + sphingosine.
UniProtKB/Swiss-Prot Function:
Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid.

Enzyme Numbers (IUBMB) for ASAH1 Gene

Phenotypes From GWAS Catalog for ASAH1 Gene

Gene Ontology (GO) - Molecular Function for ASAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity TAS 8955159
GO:0016787 hydrolase activity IEA --
GO:0017040 ceramidase activity TAS --
genes like me logo Genes that share ontologies with ASAH1: view
genes like me logo Genes that share phenotypes with ASAH1: view

Human Phenotype Ontology for ASAH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ASAH1 Gene

MGI Knock Outs for ASAH1:

Animal Model Products

miRNA for ASAH1 Gene

miRTarBase miRNAs that target ASAH1

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for ASAH1 Gene

Localization for ASAH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASAH1 Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASAH1 gene
Compartment Confidence
extracellular 5
lysosome 5
cytosol 3
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for ASAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 25645918
GO:0005764 lysosome IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ASAH1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ASAH1 Gene

Pathways & Interactions for ASAH1 Gene

genes like me logo Genes that share pathways with ASAH1: view

Gene Ontology (GO) - Biological Process for ASAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006672 ceramide metabolic process TAS 8955159
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with ASAH1: view

No data available for SIGNOR curated interactions for ASAH1 Gene

Drugs & Compounds for ASAH1 Gene

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  1. Drug

(10) Drugs for ASAH1 Gene - From: ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Palmitic Acid Approved, Experimental Pharma Full agonist, Agonist 23
Stearic acid Approved, Experimental Pharma 0
Water Approved Pharma 0
Sphingosine Experimental Pharma 0
Myristic acid Experimental Pharma 0

(89) Additional Compounds for ASAH1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
 852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
 862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
 244215-65-4
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate

(1) Tocris Compounds for ASAH1 Gene

Compound Action Cas Number
Ceranib 1 Ceramidase inhibitor; antiproliferative 328076-61-5

(1) ApexBio Compounds for ASAH1 Gene

Compound Action Cas Number
Ceranib 1 328076-61-5
genes like me logo Genes that share compounds with ASAH1: view

Drug Products

Transcripts for ASAH1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ASAH1 Gene

(4) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(772) Selected AceView cDNA sequences:
(69) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ASAH1 Gene

N-acylsphingosine amidohydrolase (acid ceramidase) 1:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASAH1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a ·
SP1: - - - - - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - -
SP4: - -
SP5: - -
SP6: - - -
SP7: - -
SP8: -
SP9: -
SP10:
SP11:
SP12:

ExUns: 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for ASAH1 Gene

GeneLoc Exon Structure for
ASAH1
ECgene alternative splicing isoforms for
ASAH1

Expression for ASAH1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASAH1 Gene

mRNA expression in normal human tissues for ASAH1 Gene
mRNA expression by BioGPS for ASAH1 GenemRNA expression by GTEx for ASAH1 Gene

mRNA differential expression in normal tissues according to GTEx for ASAH1 Gene

This gene is overexpressed in Whole Blood (x4.7) and Heart - Left Ventricle (x4.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ASAH1 Gene



Protein tissue co-expression partners for ASAH1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ASAH1 Gene:

ASAH1

SOURCE GeneReport for Unigene cluster for ASAH1 Gene:

Hs.527412

mRNA Expression by UniProt/SwissProt for ASAH1 Gene:

Q13510-ASAH1_HUMAN
Tissue specificity: Broadly expressed with highest expression in heart.

Evidence on tissue expression from TISSUES for ASAH1 Gene

  • Nervous system(5)
  • Blood(4.8)
  • Skin(4.7)
  • Liver(4.6)
  • Bone marrow(4.4)
  • Stomach(4.4)
  • Kidney(4)
  • Urine(4)
  • Lung(3.9)
  • Heart(3.4)
  • Muscle(3)
  • Spleen(2.9)
  • Intestine(2.5)
  • Thyroid gland(2.5)
  • Adrenal gland(2.2)
  • Pancreas(2.1)
  • Gall bladder(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ASAH1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • epiglottis
  • eye
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tongue
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • liver
  • spleen
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with ASAH1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein differential expression in normal tissues for ASAH1 Gene

Orthologs for ASAH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASAH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ASAH1 33 34
  • 99.16 (n)
dog
(Canis familiaris)
 Mammalia ASAH1 33 34
  • 89.25 (n)
cow
(Bos Taurus)
 Mammalia ASAH1 33 34
  • 87.43 (n)
rat
(Rattus norvegicus)
 Mammalia Asah1 33
  • 84.34 (n)
mouse
(Mus musculus)
 Mammalia Asah1 33 16 34
  • 84.08 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 75 (a)
 OneToMany
-- 34
  • 59 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia ASAH1 34
  • 70 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ASAH1 33 34
  • 68.47 (n)
lizard
(Anolis carolinensis)
 Reptilia ASAH1 34
  • 60 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia asah1 33
  • 65.87 (n)
Str.5508 33
African clawed frog
(Xenopus laevis)
 Amphibia Xl.22164 33
zebrafish
(Danio rerio)
 Actinopterygii asah1b 34 33
  • 63.32 (n)
 OneToMany
asah1a 34
  • 58 (a)
 OneToMany
zgc66026 33
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.9300 33
worm
(Caenorhabditis elegans)
 Secernentea asah-1 34 33
  • 49.73 (n)
 OneToMany
F27E5.1 34
  • 32 (a)
 OneToMany
Species where no ortholog for ASAH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ASAH1 Gene

ENSEMBL:
Gene Tree for ASAH1 (if available)
TreeFam:
Gene Tree for ASAH1 (if available)

Paralogs for ASAH1 Gene

Variants for ASAH1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ASAH1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs10103355 benign, not specified, Farber's lipogranulomatosis 18,061,425(-) A/G coding_sequence_variant, missense_variant
rs1049874 benign, not specified, Farber's lipogranulomatosis 18,069,818(-) T/C coding_sequence_variant, intron_variant, missense_variant
rs1071645 benign, not specified, Farber's lipogranulomatosis 18,071,302(-) C/T coding_sequence_variant, missense_variant
rs115127411 likely-benign, Farber's lipogranulomatosis 18,057,200(-) C/A/T 3_prime_UTR_variant
rs137853593 pathogenic, Farber's lipogranulomatosis, Farber lipogranulomatosis (FRBRL) [MIM:228000] 18,061,724(-) G/C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for ASAH1 Gene

Variant ID Type Subtype PubMed ID
dgv2055e212 CNV loss 25503493
esv3616511 CNV gain 21293372
esv3891365 CNV gain 25118596
nsv1026366 CNV gain 25217958
nsv1115070 CNV deletion 24896259
nsv522647 CNV loss 19592680
nsv610713 CNV loss 21841781
nsv820215 CNV loss 19587683

Variation tolerance for ASAH1 Gene

Residual Variation Intolerance Score: 97.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.44; 64.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASAH1 Gene

Human Gene Mutation Database (HGMD)
ASAH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASAH1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASAH1 Gene

Disorders for ASAH1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for ASAH1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
farber lipogranulomatosis
  • frbrl
spinal muscular atrophy with progressive myoclonic epilepsy
  • smapme
jankovic rivera syndrome
  • hereditary myoclonus and progressive distal muscular atrophy
keloid formation
lipogranulomatosis
  • erdheim-chester disease
- elite association - COSMIC cancer census association via MalaCards
Search ASAH1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ASAH1_HUMAN
  • Farber lipogranulomatosis (FRBRL) [MIM:228000]: An autosomal recessive lysosomal storage disorder characterized by subcutaneous lipid-loaded nodules, excruciating pain in the joints and extremities, and marked accumulation of ceramide in lysosomes. Disease severity is variable. The most severe disease subtype is a rare neonatal form with death occurring before 1 year of age. {ECO:0000269 PubMed:10610716, ECO:0000269 PubMed:10993717, ECO:0000269 PubMed:11241842, ECO:0000269 PubMed:12638942, ECO:0000269 PubMed:16951918, ECO:0000269 PubMed:20609603, ECO:0000269 PubMed:21893389, ECO:0000269 PubMed:21982811, ECO:0000269 PubMed: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:0000269 PubMed:22703880, ECO:0000269 PubMed:24164096}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ASAH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ASAH1: view

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Publications for ASAH1 Gene

  1. The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression. (PMID: 10610716) Li CM … Schuchman EH (Genomics 1999) 2 3 4 22 58
  2. Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease. (PMID: 8955159) Koch J … Sandhoff K (The Journal of biological chemistry 1996) 2 3 4 22 58
  3. Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system. (PMID: 21893389) Chedrawi AK … Kaya N (Brain & development 2012) 3 4 58
  4. Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. (PMID: 22703880) Zhou J … Melki J (American journal of human genetics 2012) 3 4 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

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Sources for ASAH1 Gene

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