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Protein

Acid ceramidase

Gene

ASAH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=149 µM for N-lauroylsphingosine1 Publication
  1. Vmax=136 nmol/h/mg enzyme with N-lauroylsphingosine as substrate1 Publication

pH dependencei

Optimum pH is 3.8-4.3 with N-lauroylsphingosine as substrate.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • catalytic activity Source: ProtInc
  • ceramidase activity Source: UniProtKB-EC
  • hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds Source: GO_Central
  • N-acylsphingosine amidohydrolase activity Source: GO_Central

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

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BRENDAi
3.5.1.23 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1660662 Glycosphingolipid metabolism
R-HSA-6798695 Neutrophil degranulation

SABIO-RK: Biochemical Reaction Kinetics Database

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SABIO-RKi
Q13510

Protein family/group databases

MEROPS protease database

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MEROPSi
C89.001

Chemistry databases

SwissLipids knowledge resource for lipid biology

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SwissLipidsi
SLP:000000162

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Acid ceramidase (EC:3.5.1.231 Publication)
Short name:
AC
Short name:
ACDase
Short name:
Acid CDase
Alternative name(s):
Acylsphingosine deacylase
N-acylsphingosine amidohydrolase
Putative 32 kDa heart protein
Short name:
PHP32
Cleaved into the following 2 chains:
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ASAH1
Synonyms:ASAH
ORF Names:HSD-33, HSD33
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000104763.17

Human Gene Nomenclature Database

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HGNCi
HGNC:735 ASAH1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
613468 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q13510

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Lysosome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Farber lipogranulomatosis (FRBRL)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:228000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03816622Q → H in FRBRL. 1 Publication1
Natural variantiVAR_03816723H → D in FRBRL. 1 Publication1
Natural variantiVAR_02157936Y → C in FRBRL. 1 PublicationCorresponds to variant dbSNP:rs137853595Ensembl.1
Natural variantiVAR_02158096Missing in FRBRL. 1 Publication1
Natural variantiVAR_02158197V → E in FRBRL. 1 Publication1
Natural variantiVAR_07199497V → G in FRBRL. 1 Publication1
Natural variantiVAR_021582138E → V in FRBRL. 2 PublicationsCorresponds to variant dbSNP:rs137853594Ensembl.1
Natural variantiVAR_071995168G → W in FRBRL. 1 Publication1
Natural variantiVAR_038169182L → V in FRBRL. 1 PublicationCorresponds to variant dbSNP:rs137853597Ensembl.1
Natural variantiVAR_008862222T → K in FRBRL. 2 PublicationsCorresponds to variant dbSNP:rs137853593Ensembl.1
Natural variantiVAR_021583235G → R in FRBRL. 1 Publication1
Natural variantiVAR_021584254R → G in FRBRL. 1 Publication1
Natural variantiVAR_021585320N → D in FRBRL. 2 PublicationsCorresponds to variant dbSNP:rs137853596Ensembl.1
Natural variantiVAR_021586362P → R in FRBRL. 1 Publication1
Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:159950
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06872242T → M in SMAPME; results in reduced activity. 1 PublicationCorresponds to variant dbSNP:rs145873635EnsemblClinVar.1
Natural variantiVAR_072247152K → N in SMAPME; results in reduced activity. 1 PublicationCorresponds to variant dbSNP:rs200455852Ensembl.1

Keywords - Diseasei

Disease mutation, Epilepsy, Neurodegeneration

Organism-specific databases

DisGeNET

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DisGeNETi
427

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
ASAH1

MalaCards human disease database

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MalaCardsi
ASAH1
MIMi159950 phenotype
228000 phenotype

Open Targets

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OpenTargetsi
ENSG00000104763

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
333 Farber disease
2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA35025

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL5463

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
ASAH1

Domain mapping of disease mutations (DMDM)

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DMDMi
239938949

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 21Sequence analysisAdd BLAST21
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000231222 – 142Acid ceramidase subunit alphaAdd BLAST121
ChainiPRO_0000002313143 – 395Acid ceramidase subunit betaAdd BLAST253

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi173N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi195N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi259N-linked (GlcNAc...) asparagine4 Publications1
Glycosylationi286N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi342N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi348N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q13510

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q13510

MaxQB - The MaxQuant DataBase

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MaxQBi
Q13510

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q13510

PeptideAtlas

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PeptideAtlasi
Q13510

PRoteomics IDEntifications database

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PRIDEi
Q13510

ProteomicsDB human proteome resource

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ProteomicsDBi
59511
59512 [Q13510-2]

Consortium for Top Down Proteomics

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TopDownProteomicsi
Q13510-1 [Q13510-1]

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
986

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q13510

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q13510

SwissPalm database of S-palmitoylation events

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SwissPalmi
Q13510

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Broadly expressed with highest expression in heart.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000104763 Expressed in 234 organ(s), highest expression level in visceral pleura

CleanEx database of gene expression profiles

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CleanExi
HS_ASAH1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q13510 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q13510 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA005468

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterodimer of one alpha and one beta subunit.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
106920, 36 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q13510

Protein interaction database and analysis system

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IntActi
Q13510, 8 interactors

Molecular INTeraction database

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MINTi
Q13510

STRING: functional protein association networks

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STRINGi
9606.ENSP00000371152

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q13510

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q13510

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q13510

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the acid ceramidase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IFSS Eukaryota
ENOG410XQ6Y LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00530000063548

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000007253

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG050586

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q13510

KEGG Orthology (KO)

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KOi
K12348

Identification of Orthologs from Complete Genome Data

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OMAi
WIGFITR

Database of Orthologous Groups

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OrthoDBi
953529at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q13510

TreeFam database of animal gene trees

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TreeFami
TF313219

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR016699 Acid_ceramidase-like
IPR029130 Acid_ceramidase_N
IPR029132 CBAH/NAAA_C

Pfam protein domain database

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Pfami
View protein in Pfam
PF02275 CBAH, 1 hit
PF15508 NAAA-beta, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF017632 Acid_ceramidase-like, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 37 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q13510-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPGRSCVALV LLAAAVSCAV AQHAPPWTED CRKSTYPPSG PTYRGAVPWY
60 70 80 90 100
TINLDLPPYK RWHELMLDKA PVLKVIVNSL KNMINTFVPS GKIMQVVDEK
110 120 130 140 150
LPGLLGNFPG PFEEEMKGIA AVTDIPLGEI ISFNIFYELF TICTSIVAED
160 170 180 190 200
KKGHLIHGRN MDFGVFLGWN INNDTWVITE QLKPLTVNLD FQRNNKTVFK
210 220 230 240 250
ASSFAGYVGM LTGFKPGLFS LTLNERFSIN GGYLGILEWI LGKKDVMWIG
260 270 280 290 300
FLTRTVLENS TSYEEAKNLL TKTKILAPAY FILGGNQSGE GCVITRDRKE
310 320 330 340 350
SLDVYELDAK QGRWYVVQTN YDRWKHPFFL DDRRTPAKMC LNRTSQENIS
360 370 380 390
FETMYDVLST KPVLNKLTVY TTLIDVTKGQ FETYLRDCPD PCIGW
Length:395
Mass (Da):44,660
Last modified:June 16, 2009 - v5
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i83467DBE8917DB6D
GO
Isoform 2 (identifier: Q13510-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-26: MPGRSCVALVLLAAAVSCAVAQHAPP → MNCCIGLGEKARGSHRASYPSLSALFTEASILGFGSFAVKAQ

Show »
Length:411
Mass (Da):46,504
Checksum:i09D3BF40743119CF
GO
Isoform 3 (identifier: Q13510-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-26: MPGRSCVALVLLAAAVSCAVAQHAPP → MNCCIGLGEKARGSHRASYPSLSALFTEASILGFGSFAVKAQ
     42-42: T → TVFPAVIR
     73-101: Missing.

Note: No experimental confirmation available.
Show »
Length:389
Mass (Da):44,046
Checksum:i56A2FF8FB1911AD5
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 37 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GTQ7A0A1B0GTQ7_HUMAN
Acid ceramidase
ASAH1
56Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EMM4E7EMM4_HUMAN
Acid ceramidase
ASAH1
370Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GW68A0A1B0GW68_HUMAN
Acid ceramidase
ASAH1
374Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GUG1A0A1B0GUG1_HUMAN
Acid ceramidase
ASAH1
366Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTM3A0A1B0GTM3_HUMAN
Acid ceramidase
ASAH1
376Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GUA4A0A1B0GUA4_HUMAN
Acid ceramidase
ASAH1
375Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GUH5A0A1B0GUH5_HUMAN
Acid ceramidase
ASAH1
393Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GVG2A0A1B0GVG2_HUMAN
Acid ceramidase
ASAH1
341Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTZ5A0A1B0GTZ5_HUMAN
Acid ceramidase
ASAH1
386Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GUW4A0A1B0GUW4_HUMAN
Acid ceramidase
ASAH1
368Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAC73009 differs from that shown. Reason: Frameshift at positions 15 and 21.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti122V → A in AAQ75550 (Ref. 4) Curated1
Sequence conflicti142I → V in AAH16828 (PubMed:15489334).Curated1
Sequence conflicti155L → P in AAQ75550 (Ref. 4) Curated1
Sequence conflicti233Y → N in AAQ75550 (Ref. 4) Curated1
Sequence conflicti364L → P in AAQ75550 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03816622Q → H in FRBRL. 1 Publication1
Natural variantiVAR_03816723H → D in FRBRL. 1 Publication1
Natural variantiVAR_02157936Y → C in FRBRL. 1 PublicationCorresponds to variant dbSNP:rs137853595Ensembl.1
Natural variantiVAR_06872242T → M in SMAPME; results in reduced activity. 1 PublicationCorresponds to variant dbSNP:rs145873635EnsemblClinVar.1
Natural variantiVAR_05797970A → V. Corresponds to variant dbSNP:rs10103355Ensembl.1
Natural variantiVAR_00886072V → M4 PublicationsCorresponds to variant dbSNP:rs1071645EnsemblClinVar.1
Natural variantiVAR_05798088V → M. Corresponds to variant dbSNP:rs1071645EnsemblClinVar.1
Natural variantiVAR_00886193I → V4 PublicationsCorresponds to variant dbSNP:rs1049874Ensembl.1
Natural variantiVAR_02158096Missing in FRBRL. 1 Publication1
Natural variantiVAR_02158197V → E in FRBRL. 1 Publication1
Natural variantiVAR_07199497V → G in FRBRL. 1 Publication1
Natural variantiVAR_038168124D → E. Corresponds to variant dbSNP:rs2472205Ensembl.1
Natural variantiVAR_021582138E → V in FRBRL. 2 PublicationsCorresponds to variant dbSNP:rs137853594Ensembl.1
Natural variantiVAR_072247152K → N in SMAPME; results in reduced activity. 1 PublicationCorresponds to variant dbSNP:rs200455852Ensembl.1
Natural variantiVAR_071995168G → W in FRBRL. 1 Publication1
Natural variantiVAR_038169182L → V in FRBRL. 1 PublicationCorresponds to variant dbSNP:rs137853597Ensembl.1
Natural variantiVAR_008862222T → K in FRBRL. 2 PublicationsCorresponds to variant dbSNP:rs137853593Ensembl.1
Natural variantiVAR_021583235G → R in FRBRL. 1 Publication1
Natural variantiVAR_038170246V → A4 PublicationsCorresponds to variant dbSNP:rs10103355Ensembl.1
Natural variantiVAR_021584254R → G in FRBRL. 1 Publication1
Natural variantiVAR_021585320N → D in FRBRL. 2 PublicationsCorresponds to variant dbSNP:rs137853596Ensembl.1
Natural variantiVAR_021586362P → R in FRBRL. 1 Publication1
Natural variantiVAR_021587369V → I1 PublicationCorresponds to variant dbSNP:rs17636067Ensembl.1
Isoform 2 (identifier: Q13510-2)
Natural varianti185W → R in FL. 1 Publication1
Natural varianti382K → Q in FL. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0375041 – 26MPGRS…QHAPP → MNCCIGLGEKARGSHRASYP SLSALFTEASILGFGSFAVK AQ in isoform 2 and isoform 3. 2 PublicationsAdd BLAST26
Alternative sequenceiVSP_04628442T → TVFPAVIR in isoform 3. 1 Publication1
Alternative sequenceiVSP_04628573 – 101Missing in isoform 3. 1 PublicationAdd BLAST29

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U70063 mRNA Translation: AAC50907.1
U47674 mRNA Translation: AAC73009.1 Frameshift.
AY305384 mRNA Translation: AAQ75550.1
AF220175, AF220172, AF220173 Genomic DNA Translation: AAF91230.1
AC124242 Genomic DNA No translation available.
BC016481 mRNA Translation: AAH16481.1
BC016828 mRNA Translation: AAH16828.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47813.1 [Q13510-3]
CCDS6005.1 [Q13510-2]
CCDS6006.1 [Q13510-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001120977.1, NM_001127505.2 [Q13510-3]
NP_004306.3, NM_004315.5 [Q13510-2]
NP_808592.2, NM_177924.4 [Q13510-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.527412
Hs.633993

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000262097; ENSP00000262097; ENSG00000104763 [Q13510-1]
ENST00000314146; ENSP00000326970; ENSG00000104763 [Q13510-3]
ENST00000381733; ENSP00000371152; ENSG00000104763 [Q13510-2]
ENST00000635998; ENSP00000490506; ENSG00000104763 [Q13510-1]
ENST00000637790; ENSP00000490272; ENSG00000104763 [Q13510-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
427

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:427

UCSC genome browser

More...
UCSCi
uc003wyl.3 human [Q13510-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U70063 mRNA Translation: AAC50907.1
U47674 mRNA Translation: AAC73009.1 Frameshift.
AY305384 mRNA Translation: AAQ75550.1
AF220175, AF220172, AF220173 Genomic DNA Translation: AAF91230.1
AC124242 Genomic DNA No translation available.
BC016481 mRNA Translation: AAH16481.1
BC016828 mRNA Translation: AAH16828.1
CCDSiCCDS47813.1 [Q13510-3]
CCDS6005.1 [Q13510-2]
CCDS6006.1 [Q13510-1]
RefSeqiNP_001120977.1, NM_001127505.2 [Q13510-3]
NP_004306.3, NM_004315.5 [Q13510-2]
NP_808592.2, NM_177924.4 [Q13510-1]
UniGeneiHs.527412
Hs.633993

3D structure databases

ProteinModelPortaliQ13510
SMRiQ13510
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106920, 36 interactors
CORUMiQ13510
IntActiQ13510, 8 interactors
MINTiQ13510
STRINGi9606.ENSP00000371152

Chemistry databases

BindingDBiQ13510
ChEMBLiCHEMBL5463
SwissLipidsiSLP:000000162

Protein family/group databases

MEROPSiC89.001

PTM databases

GlyConnecti986
iPTMnetiQ13510
PhosphoSitePlusiQ13510
SwissPalmiQ13510

Polymorphism and mutation databases

BioMutaiASAH1
DMDMi239938949

Proteomic databases

EPDiQ13510
jPOSTiQ13510
MaxQBiQ13510
PaxDbiQ13510
PeptideAtlasiQ13510
PRIDEiQ13510
ProteomicsDBi59511
59512 [Q13510-2]
TopDownProteomicsiQ13510-1 [Q13510-1]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
427
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262097; ENSP00000262097; ENSG00000104763 [Q13510-1]
ENST00000314146; ENSP00000326970; ENSG00000104763 [Q13510-3]
ENST00000381733; ENSP00000371152; ENSG00000104763 [Q13510-2]
ENST00000635998; ENSP00000490506; ENSG00000104763 [Q13510-1]
ENST00000637790; ENSP00000490272; ENSG00000104763 [Q13510-1]
GeneIDi427
KEGGihsa:427
UCSCiuc003wyl.3 human [Q13510-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
427
DisGeNETi427
EuPathDBiHostDB:ENSG00000104763.17

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ASAH1
GeneReviewsiASAH1
HGNCiHGNC:735 ASAH1
HPAiHPA005468
MalaCardsiASAH1
MIMi159950 phenotype
228000 phenotype
613468 gene
neXtProtiNX_Q13510
OpenTargetsiENSG00000104763
Orphaneti333 Farber disease
2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
PharmGKBiPA35025

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFSS Eukaryota
ENOG410XQ6Y LUCA
GeneTreeiENSGT00530000063548
HOGENOMiHOG000007253
HOVERGENiHBG050586
InParanoidiQ13510
KOiK12348
OMAiWIGFITR
OrthoDBi953529at2759
PhylomeDBiQ13510
TreeFamiTF313219

Enzyme and pathway databases

BRENDAi3.5.1.23 2681
ReactomeiR-HSA-1660662 Glycosphingolipid metabolism
R-HSA-6798695 Neutrophil degranulation
SABIO-RKiQ13510

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
ASAH1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ASAH1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
427

Protein Ontology

More...
PROi
PR:Q13510

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000104763 Expressed in 234 organ(s), highest expression level in visceral pleura
CleanExiHS_ASAH1
ExpressionAtlasiQ13510 baseline and differential
GenevisibleiQ13510 HS

Family and domain databases

InterProiView protein in InterPro
IPR016699 Acid_ceramidase-like
IPR029130 Acid_ceramidase_N
IPR029132 CBAH/NAAA_C
PfamiView protein in Pfam
PF02275 CBAH, 1 hit
PF15508 NAAA-beta, 1 hit
PIRSFiPIRSF017632 Acid_ceramidase-like, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiASAH1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q13510
Secondary accession number(s): E9PDS0, Q6W898, Q96AS2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: June 16, 2009
Last modified: January 16, 2019
This is version 188 of the entry and version 5 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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