Aliases for ASAH1 Gene
Aliases for ASAH1 Gene
External Ids for ASAH1 Gene
- HGNC: 735
- Entrez Gene: 427
- Ensembl: ENSG00000104763
- OMIM: 613468
- UniProtKB: Q13510
Previous HGNC Symbols for ASAH1 Gene
- ASAH
Previous GeneCards Identifiers for ASAH1 Gene
- GC08M017790
- GC08M017976
- GC08M017924
- GC08M016458
Summaries 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 Metabolism and Signal Transduction of S1P Receptor. Gene Ontology (GO) annotations related to this gene include N-acylsphingosine amidohydrolase 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.
-
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).
Additional gene information for ASAH1 Gene
- Monarch Initiative
- Search for ASAH1 at DataMed
- Search for ASAH1 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASAH1 Gene
Genomics for ASAH1 Gene
GeneHancer (GH) Regulatory Elements for ASAH1 Gene
Promoters and enhancers for ASAH1 Gene
- 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:
-
- ATF-2
- c-Jun
Regulatory Element Products
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)
- Size:
- 28,583 bases
- Orientation:
- Minus strand
Genomic View for ASAH1 Gene
Genes around ASAH1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8p22 by Entrez Gene
- 8p22 by HGNC
- 8p22 by Ensembl
ASAH1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ASAH1 Gene
Proteins for ASAH1 Gene
-
Protein details for ASAH1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q13510-ASAH1_HUMAN
- Recommended name:
- Acid ceramidase
- Protein Accession:
- Q13510
- 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};
Protein Expression for ASAH1 Gene
Post-translational modifications for ASAH1 Gene
Other Protein References for ASAH1 Gene
- ENSEMBL proteins:
-
- ENSP00000326970
- ENSP00000371152
- ENSP00000489901
- ENSP00000489800
- ENSP00000262097
- ENSP00000489979
- ENSP00000490195
- ENSP00000490093
- ENSP00000490798
- ENSP00000490596
- ENSP00000489914
- ENSP00000489617
- ENSP00000490837
- ENSP00000490133
- ENSP00000490132
- ENSP00000490036
- ENSP00000490738
- ENSP00000490536
- ENSP00000490437
- ENSP00000490432
- ENSP00000490388
- ENSP00000490188
- ENSP00000490485
- ENSP00000489651
- ENSP00000490322
- ENSP00000490129
- ENSP00000490027
- ENSP00000490025
- ENSP00000490725
- ENSP00000490522
- ENSP00000490423
- ENSP00000490876
- ENSP00000490270
- ENSP00000490272
- ENSP00000490071
- ENSP00000490774
- ENSP00000489988
- ENSP00000489884
- ENSP00000489789
- ENSP00000427751
- ENSP00000490112
- ENSP00000490415
- ENSP00000490562
- ENSP00000490464
- ENSP00000490801
- ENSP00000490202
- ENSP00000490700
- ENSP00000490506
- ENSP00000490502
- ENSP00000489761
- ENSP00000490753
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for ASAH1
- Novus Biologicals Antibodies for ASAH1
- Invitrogen Antibodies for ASAH1
- GeneTex ASAH1 Antibody for ASAH1
-
Boster Bio Antibodies for ASAH1
-
Custom Antibody ServicesProSci Antibodies for ASAH1
-
Santa Cruz Biotechnology (SCBT) Antibodies for ASAH1
Protein Products
-
OriGene Purified Proteins for ASAH1
- Search Origene for MassSpec and Protein Over-expression Lysates for ASAH1
- Origene Custom Protein Services for ASAH1
- Search GeneTex for Proteins for ASAH1
Assay Products
- antibodies-online: Search results for 5 available ASAH1 Elisa Kits ranked by validation data
- Compare Top ASAH1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for ASAH1 Gene
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
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ASAH1 Gene
Graphical View of Domain Structure for InterPro Entry
Q13510- Family:
-
- Belongs to the acid ceramidase family.
Function for ASAH1 Gene
Molecular function for ASAH1 Gene
- UniProtKB/Swiss-Prot Function:
- Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid.
- UniProtKB/Swiss-Prot CatalyticActivity:
- N-acylsphingosine + H(2)O = a carboxylate + sphingosine.
- 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};
Enzyme Numbers (IUBMB) for ASAH1 Gene
Phenotypes From GWAS Catalog for ASAH1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003824 | catalytic activity | TAS | 8955159 |
| GO:0016787 | hydrolase activity | IEA | -- |
| GO:0016810 | hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds | IBA | -- |
| GO:0017040 | N-acylsphingosine amidohydrolase activity | TAS | -- |
| GO:0102121 | ceramidase activity | IEA | -- |
Phenotypes for ASAH1 Gene
- MGI mutant phenotypes for ASAH1:
-
inferred from 3 alleles
- respiratory system phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- liver/biliary system phenotype
- reproductive system phenotype
- skeleton phenotype
- renal/urinary system phenotype
- adipose tissue phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for ASAH1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ASAH1
-
CRISPR Products
-
OriGene CRISPR knockouts for ASAH1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ASAH1
- genomics-online: gRNA clones - Search results for available ASAH1 gene related products
- Applied Biological Materials CRISPR for ASAH1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ASAH1
- GenScript: Design CRISPR guide RNA sequences for ASAH1
miRNA for ASAH1 Gene
- miRTarBase miRNAs that target ASAH1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for ASAH1
- Browse OriGene Inhibitory RNA Products For ASAH1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASAH1
- genomics-online: shRNA clones - Search results for available ASAH1 gene related products
Clone Products
-
OriGene ORF clones in human for ASAH1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ASAH1
- VectorBuilder custom plasmid, inducible vectors for ASAH1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ASAH1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ASAH1
- genomics-online: cdna clones - Search results for available ASAH1 gene related products
- orf clones - Search results for available ASAH1 gene related products
- Applied Biological Materials Clones for ASAH1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ASAH1
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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| lysosome | 5 |
| cytosol | 3 |
| nucleus | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endosome | 1 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ASAH1 Gene
Pathways & Interactions for ASAH1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Sphingolipid metabolism | ||
| 2 | Metabolism |
.37
|
|
| 3 | Innate Immune System |
.61
|
|
| 4 | Lysosome |
-
|
|
| 5 | Sphingolipid signaling pathway | ||
Pathways by source for ASAH1 Gene
4 BioSystems pathways for ASAH1 Gene
7 Reactome pathways for ASAH1 Gene
4 KEGG pathways for ASAH1 Gene
1 Qiagen pathway for ASAH1 Gene
Interacting Proteins for ASAH1 Gene
Selected Interacting proteins:
Q13510-ASAH1_HUMAN
ENSP00000371152
for ASAH1 Gene via
MINT
IID
STRING
GPS-Prot Interaction Network for ASAH1
| 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 | -- |
No data available for SIGNOR curated interactions for ASAH1 Gene
Drugs & Compounds for ASAH1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 3-O-Sulfogalactosylceramide (d18:1/12:0) |
|
852100-88-0 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/14:0) |
|
|
||||
| 3-O-Sulfogalactosylceramide (d18:1/16:0) |
|
862509-48-6 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/18:0) |
|
244215-65-4 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/18:1(9Z)) |
|
|
(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 |
Transcripts for ASAH1 Gene
mRNA/cDNA for ASAH1 Gene
- (5) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (772) Selected AceView cDNA sequences:
- (69) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000262097 2618 bps (uc003wyl.3)
- ENST00000314146 1690 bps (uc003wyo.3)
- ENST00000381733 2512 bps (uc003wyn.3)
- ENST00000517409 740 bps (uc064kqh.1)
- ENST00000518087 918 bps (uc064kqj.1)
Unigene Clusters for ASAH1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ASAH1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ASAH1
- genomics-online: gRNA clones - Search results for available ASAH1 gene related products
- Applied Biological Materials CRISPR for ASAH1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ASAH1
- GenScript: Design CRISPR guide RNA sequences for ASAH1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for ASAH1
- Browse OriGene Inhibitory RNA Products For ASAH1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASAH1
- genomics-online: shRNA clones - Search results for available ASAH1 gene related products
Clone Products
-
OriGene ORF clones in human for ASAH1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ASAH1
- VectorBuilder custom plasmid, inducible vectors for ASAH1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ASAH1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ASAH1
- genomics-online: cdna clones - Search results for available ASAH1 gene related products
- orf clones - Search results for available ASAH1 gene related products
- Applied Biological Materials Clones for ASAH1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression 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, MaxQB, and MOPED for ASAH1 Gene
NURSA nuclear receptor signaling pathways regulating expression of ASAH1 Gene:
ASAH1SOURCE GeneReport for Unigene cluster for ASAH1 Gene:
Hs.527412mRNA 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
Primer Products
-
OriGene qPCR primer pairs and template standards for ASAH1
-
OriGene qPCR primer pairs for ASAH1
- genomics-online: primer clones - Search results for available ASAH1 gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ASAH1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ASAH1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ASAH1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Asah1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Asah1 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | ASAH1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ASAH1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ASAH1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | asah1 33 |
|
||
| Str.5508 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.22164 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | asah1b 34 33 |
|
OneToMany | |
| asah1a 34 |
|
OneToMany | |||
| zgc66026 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9300 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | asah-1 34 33 |
|
OneToMany | |
| F27E5.1 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for ASAH1: view image
Paralogs for ASAH1 Gene
(1) SIMAP similar genes for ASAH1 Gene using alignment to 19 proteins:
- ASAH1_HUMAN
- B1B5P6_HUMAN
- B1B5P7_HUMAN
- B1B5Q0_HUMAN
- B1B5Q2_HUMAN
- B1B5Q3_HUMAN
- B1B5Q8_HUMAN
- B1B5Q9_HUMAN
- B1B5R8_HUMAN
- B1B5R9_HUMAN
- B1B5S5_HUMAN
- B1B5S6_HUMAN
- B1B5S7_HUMAN
- B1B5S8_HUMAN
- B1B5T0_HUMAN
- B1B5T7_HUMAN
- D3DSQ1_HUMAN
- E7EMM4_HUMAN
- E7ERV9_HUMAN
Variants 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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv820215 | CNV | loss | 19587683 |
| nsv610713 | CNV | loss | 21841781 |
| nsv522647 | CNV | loss | 19592680 |
| nsv1115070 | CNV | deletion | 24896259 |
| nsv1026366 | CNV | gain | 25217958 |
| esv3891365 | CNV | gain | 25118596 |
| esv3616511 | CNV | gain | 21293372 |
| dgv2055e212 | CNV | loss | 25503493 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASAH1 Gene
Disorders for ASAH1 Gene
(13) MalaCards diseases for ASAH1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| farber lipogranulomatosis |
|
|
| spinal muscular atrophy with progressive myoclonic epilepsy |
|
|
| jankovic rivera syndrome |
|
|
| keloid formation |
|
|
| benign epilepsy with centrotemporal spikes |
|
|
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
No data available for Genatlas for ASAH1 Gene
Publications for ASAH1 Gene
- 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
- 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
- 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
- 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
- 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
- (1) GeneCards
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