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Protein

Neutral ceramidase

Gene

ASAH2

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 at an optimal pH of 6.5-8.5 (PubMed:10781606, PubMed:26190575). Acts as a key regulator of sphingolipid signaling metabolites by generating sphingosine at the cell surface. Acts as a repressor of apoptosis both by reducing C16-ceramide, thereby preventing ceramide-induced apoptosis, and generating sphingosine, a precursor of the antiapoptotic factor sphingosine 1-phosphate. Probably involved in the digestion of dietary sphingolipids in intestine by acting as a key enzyme for the catabolism of dietary sphingolipids and regulating the levels of bioactive sphingolipid metabolites in the intestinal tract.4 Publications

Caution

Was proposed to be mitochondrial, based on experiments with an N-terminal GFP-tag (PubMed:10781606). Other experiments suggest that the mitochondrial location does not exist in vivo, and that the protein is normally present at the cell membrane (PubMed:15845354).2 Publications

<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 provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Zn2+1 PublicationNote: Binds 1 zinc ion per subunit.1 Publication

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by dithiothreitol (DTT). Activity is mildly stimulated by Ca2+ and Mg2+, but is not inhibited by EDTA (PubMed:10781606, PubMed:16229686). Activity is inhibited by mM levels of Fe2+, Zn2+ and Cu2+ (PubMed:16229686).2 Publications

<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=71.4 µM for octanoyl-sphingosine2 Publications
  2. KM=66 µM for palmitoyl-sphingosine2 Publications
  3. KM=60.1 µM for D-erythro-C12-NBD-ceramide2 Publications
  1. Vmax=160 µmol/min/mg enzyme with octanoyl-sphingosine as substrate2 Publications
  2. Vmax=16 µmol/min/mg enzyme with palmitoyl-sphingosine as substrate2 Publications
  3. Vmax=0.68 nmol/min/mg enzyme with D-erythro-C12-NBD-ceramide as substrate2 Publications

pH dependencei

Optimum pH is 7.5-9.5.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi134Calcium; via carbonyl oxygenCombined sources1 Publication1
Metal bindingi194Zinc; via tele nitrogenCombined sources1 Publication1
Metal bindingi303Zinc; via tele nitrogenCombined sources1 Publication1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei354Nucleophile1 Publication1
Metal bindingi540ZincCombined sources1 Publication1
Metal bindingi579ZincCombined sources1 Publication1
Metal bindingi712Calcium; via carbonyl oxygenCombined sources1 Publication1
Metal bindingi714Calcium; via carbonyl oxygenCombined sources1 Publication1
Metal bindingi717CalciumCombined sources1 Publication1

<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

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
Biological processApoptosis, Lipid metabolism, Sphingolipid metabolism
LigandCalcium, Metal-binding, Zinc

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.5.1.23 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1660662 Glycosphingolipid metabolism

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
Q9NR71

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000000163

<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:
Neutral ceramidase (EC:3.5.1.233 Publications)
Short name:
N-CDase
Short name:
NCDase
Alternative name(s):
Acylsphingosine deacylase 2
BCDase
LCDase
Short name:
hCD
N-acylsphingosine amidohydrolase 2
Non-lysosomal ceramidase
Cleaved into the following chain:
<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:ASAH2
Synonyms:HNAC1
<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 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000188611.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18860 ASAH2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611202 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NR71

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 12CytoplasmicSequence analysisAdd BLAST12
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei13 – 33Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini34 – 780LumenalSequence analysisAdd BLAST747

Keywords - Cellular componenti

Cell membrane, Membrane

<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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi124G → R: Loss of enzyme activity. 1 Publication1
Mutagenesisi194H → A: Loss of enzyme activity. 1 Publication1
Mutagenesisi196H → A: Loss of enzyme activity. 1 Publication1
Mutagenesisi211A → R: Loss of enzyme activity. 1 Publication1
Mutagenesisi257R → A: Loss of enzyme activity. 1 Publication1
Mutagenesisi258S → A: Impairs enzyme activity. 1 Publication1
Mutagenesisi303H → A: Loss of enzyme activity. 1 Publication1
Mutagenesisi352D → A: Abolishes enzyme activity. 1 Publication1
Mutagenesisi354S → A: Abolishes enzyme activity. 1 Publication1
Mutagenesisi362C → A: Abolishes enzyme activity. 1 Publication1
Mutagenesisi374S → A: Impairs enzyme activity. 1 Publication1
Mutagenesisi396S → A: No effect. 1 Publication1
Mutagenesisi465G → R: Loss of enzyme activity. 1 Publication1
Mutagenesisi540E → A: Loss of enzyme activity. 1 Publication1
Mutagenesisi579Y → F: Loss of enzyme activity. 1 Publication1
Mutagenesisi591Y → F: Loss of enzyme activity. 1 Publication1
Mutagenesisi595S → A: Impairs enzyme activity. 1 Publication1
Mutagenesisi729S → A: Impairs enzyme activity. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
56624

Open Targets

More...
OpenTargetsi
ENSG00000188611

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134977109

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2021754

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ASAH2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
110832757

<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 describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002470991 – 780Neutral ceramidaseAdd BLAST780
ChainiPRO_000024710099 – 780Neutral ceramidase soluble formBy similarityAdd BLAST682

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>Glycosylationi62O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi67O-linked (GalNAc...) serineSequence analysis1
Glycosylationi68O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi70O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi73O-linked (GalNAc...) serineSequence analysis1
Glycosylationi74O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi76O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi78O-linked (GalNAc...) serineSequence analysis1
Glycosylationi79O-linked (GalNAc...) serineSequence analysis1
Glycosylationi80O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi82O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi84O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi98N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi151N-linked (GlcNAc...) asparagineCombined sources1 Publication1
Glycosylationi217N-linked (GlcNAc...) asparagineCombined sources1 Publication1
Glycosylationi308N-linked (GlcNAc...) asparagineCombined sources1 Publication1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi362 ↔ 376Combined sources1 Publication
Disulfide bondi369 ↔ 384Combined sources1 Publication
Glycosylationi440N-linked (GlcNAc...) asparagineCombined sources1 Publication1
Disulfide bondi448 ↔ 498Combined sources1 Publication
Glycosylationi468N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi564N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi730N-linked (GlcNAc...) asparagineCombined sources1 Publication1
Glycosylationi779O-linked (GalNAc...) threonineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated. Required for enzyme activity.By similarity
O-glycosylated. Required to retain it as a type II membrane protein at the cell surface.1 Publication
Phosphorylated. May prevent ubiquitination and subsequent degradation.By similarity
Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is triggered by nitric oxid.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NR71

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

More...
PaxDbi
Q9NR71

PeptideAtlas

More...
PeptideAtlasi
Q9NR71

PRoteomics IDEntifications database

More...
PRIDEi
Q9NR71

ProteomicsDB human proteome resource

More...
ProteomicsDBi
82290
82291 [Q9NR71-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NR71

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

More...
PhosphoSitePlusi
Q9NR71

<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

Primarily expressed in the intestine (PubMed:17334805). Ubiquitously expressed with higher levels in kidney, skeletal muscle and heart (PubMed:10781606). According to PubMed:17334805, ubiquitous expression attributed to ASAH2 may be actually that of the paralog ASAH2B.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000188611 Expressed in 93 organ(s), highest expression level in intestine

CleanEx database of gene expression profiles

More...
CleanExi
HS_ASAH2

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NR71 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NR71 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA061171

<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

Protein-protein interaction databases

Protein interaction database and analysis system

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IntActi
Q9NR71, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000378897

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q9NR71

<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

Secondary structure

1780
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4WGKX-ray2.58A/B99-780[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q9NR71

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

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SMRi
Q9NR71

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni770 – 780Required for correct folding and localizationBy similarityAdd BLAST11

<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 neutral ceramidase family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2232 Eukaryota
ENOG410XQWE LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000015792

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG080870

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NR71

KEGG Orthology (KO)

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KOi
K12349

Identification of Orthologs from Complete Genome Data

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OMAi
CKPALGH

Database of Orthologous Groups

More...
OrthoDBi
967085at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NR71

TreeFam database of animal gene trees

More...
TreeFami
TF300786

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.2300, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR006823 Ceramidase_alk
IPR038445 NCDase_C_sf
IPR031331 NEUT/ALK_ceramidase_C
IPR031329 NEUT/ALK_ceramidase_N

The PANTHER Classification System

More...
PANTHERi
PTHR12670 PTHR12670, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04734 Ceramidase_alk, 1 hit
PF17048 Ceramidse_alk_C, 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 (2+)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 2 <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 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NR71-1) [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
MAKRTFSNLE TFLIFLLVMM SAITVALLSL LFITSGTIEN HKDLGGHFFS
60 70 80 90 100
TTQSPPATQG STAAQRSTAT QHSTATQSST ATQTSPVPLT PESPLFQNFS
110 120 130 140 150
GYHIGVGRAD CTGQVADINL MGYGKSGQNA QGILTRLYSR AFIMAEPDGS
160 170 180 190 200
NRTVFVSIDI GMVSQRLRLE VLNRLQSKYG SLYRRDNVIL SGTHTHSGPA
210 220 230 240 250
GYFQYTVFVI ASEGFSNQTF QHMVTGILKS IDIAHTNMKP GKIFINKGNV
260 270 280 290 300
DGVQINRSPY SYLQNPQSER ARYSSNTDKE MIVLKMVDLN GDDLGLISWF
310 320 330 340 350
AIHPVSMNNS NHLVNSDNVG YASYLLEQEK NKGYLPGQGP FVAAFASSNL
360 370 380 390 400
GDVSPNILGP RCINTGESCD NANSTCPIGG PSMCIAKGPG QDMFDSTQII
410 420 430 440 450
GRAMYQRAKE LYASASQEVT GPLASAHQWV DMTDVTVWLN STHASKTCKP
460 470 480 490 500
ALGYSFAAGT IDGVGGLNFT QGKTEGDPFW DTIRDQILGK PSEEIKECHK
510 520 530 540 550
PKPILLHTGE LSKPHPWHPD IVDVQIITLG SLAITAIPGE FTTMSGRRLR
560 570 580 590 600
EAVQAEFASH GMQNMTVVIS GLCNVYTHYI TTYEEYQAQR YEAASTIYGP
610 620 630 640 650
HTLSAYIQLF RNLAKAIATD TVANLSRGPE PPFFKQLIVP LIPSIVDRAP
660 670 680 690 700
KGRTFGDVLQ PAKPEYRVGE VAEVIFVGAN PKNSVQNQTH QTFLTVEKYE
710 720 730 740 750
ATSTSWQIVC NDASWETRFY WHKGLLGLSN ATVEWHIPDT AQPGIYRIRY
760 770 780
FGHNRKQDIL KPAVILSFEG TSPAFEVVTI
Length:780
Mass (Da):85,516
Last modified:July 25, 2006 - v2
<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:iD2BD7947B022A619
GO
Isoform 2 (identifier: Q9NR71-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     410-444: Missing.

Note: No experimental confirmation available.
Show »
Length:745
Mass (Da):81,718
Checksum:iB4577FFD1C6397EA
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DFQ8A0A0C4DFQ8_HUMAN
Neutral ceramidase
ASAH2
726Annotation 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>
E9PBM9E9PBM9_HUMAN
Neutral ceramidase
ASAH2
622Annotation 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>
V9GYJ5V9GYJ5_HUMAN
Neutral ceramidase
ASAH2
144Annotation 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>
V9GY52V9GY52_HUMAN
Neutral ceramidase
ASAH2
51Annotation 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>

<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 AAL06061 differs from that shown. Reason: Erroneous initiation.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 conflicti274S → P in AAL06061 (PubMed:14557071).Curated1
Sequence conflicti274S → P in AAF86240 (PubMed:10781606).Curated1
Sequence conflicti602T → A in AAL06061 (PubMed:14557071).Curated1
Sequence conflicti602T → A in AAF86240 (PubMed:10781606).Curated1
Sequence conflicti689T → N in CAI17190 (PubMed:15164054).Curated1

Natural variant

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_02706451T → A. Corresponds to variant dbSNP:rs7067625Ensembl.1
Natural variantiVAR_027065346A → S. Corresponds to variant dbSNP:rs993869Ensembl.1

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_019928410 – 444Missing in isoform 2. 1 PublicationAdd BLAST35

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY049008 Genomic DNA Translation: AAL06061.1 Different initiation.
AF449759 mRNA Translation: AAQ04667.2
AL450382 Genomic DNA No translation available.
AL589794 Genomic DNA No translation available.
AL954360 Genomic DNA Translation: CAI17190.1
AF250847 mRNA Translation: AAF86240.1
BC107105 mRNA Translation: AAI07106.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS44398.1 [Q9NR71-2]
CCDS7239.2 [Q9NR71-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001137446.1, NM_001143974.1 [Q9NR71-2]
NP_063946.2, NM_019893.2 [Q9NR71-1]
XP_011538272.1, XM_011539970.2 [Q9NR71-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.512645
Hs.659820

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000395526; ENSP00000378897; ENSG00000188611 [Q9NR71-1]
ENST00000447815; ENSP00000388206; ENSG00000188611 [Q9NR71-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
56624

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:56624

UCSC genome browser

More...
UCSCi
uc001jjd.4 human [Q9NR71-1]

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
AY049008 Genomic DNA Translation: AAL06061.1 Different initiation.
AF449759 mRNA Translation: AAQ04667.2
AL450382 Genomic DNA No translation available.
AL589794 Genomic DNA No translation available.
AL954360 Genomic DNA Translation: CAI17190.1
AF250847 mRNA Translation: AAF86240.1
BC107105 mRNA Translation: AAI07106.1
CCDSiCCDS44398.1 [Q9NR71-2]
CCDS7239.2 [Q9NR71-1]
RefSeqiNP_001137446.1, NM_001143974.1 [Q9NR71-2]
NP_063946.2, NM_019893.2 [Q9NR71-1]
XP_011538272.1, XM_011539970.2 [Q9NR71-1]
UniGeneiHs.512645
Hs.659820

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4WGKX-ray2.58A/B99-780[»]
ProteinModelPortaliQ9NR71
SMRiQ9NR71
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ9NR71, 2 interactors
STRINGi9606.ENSP00000378897

Chemistry databases

BindingDBiQ9NR71
ChEMBLiCHEMBL2021754
SwissLipidsiSLP:000000163

PTM databases

iPTMnetiQ9NR71
PhosphoSitePlusiQ9NR71

Polymorphism and mutation databases

BioMutaiASAH2
DMDMi110832757

Proteomic databases

MaxQBiQ9NR71
PaxDbiQ9NR71
PeptideAtlasiQ9NR71
PRIDEiQ9NR71
ProteomicsDBi82290
82291 [Q9NR71-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000395526; ENSP00000378897; ENSG00000188611 [Q9NR71-1]
ENST00000447815; ENSP00000388206; ENSG00000188611 [Q9NR71-2]
GeneIDi56624
KEGGihsa:56624
UCSCiuc001jjd.4 human [Q9NR71-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
56624
DisGeNETi56624
EuPathDBiHostDB:ENSG00000188611.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ASAH2

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0058802
HGNCiHGNC:18860 ASAH2
HPAiHPA061171
MIMi611202 gene
neXtProtiNX_Q9NR71
OpenTargetsiENSG00000188611
PharmGKBiPA134977109

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2232 Eukaryota
ENOG410XQWE LUCA
GeneTreeiENSGT00390000015792
HOVERGENiHBG080870
InParanoidiQ9NR71
KOiK12349
OMAiCKPALGH
OrthoDBi967085at2759
PhylomeDBiQ9NR71
TreeFamiTF300786

Enzyme and pathway databases

BRENDAi3.5.1.23 2681
ReactomeiR-HSA-1660662 Glycosphingolipid metabolism
SABIO-RKiQ9NR71

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ASAH2

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

More...
GenomeRNAii
56624

Protein Ontology

More...
PROi
PR:Q9NR71

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000188611 Expressed in 93 organ(s), highest expression level in intestine
CleanExiHS_ASAH2
ExpressionAtlasiQ9NR71 baseline and differential
GenevisibleiQ9NR71 HS

Family and domain databases

Gene3Di2.60.40.2300, 1 hit
InterProiView protein in InterPro
IPR006823 Ceramidase_alk
IPR038445 NCDase_C_sf
IPR031331 NEUT/ALK_ceramidase_C
IPR031329 NEUT/ALK_ceramidase_N
PANTHERiPTHR12670 PTHR12670, 1 hit
PfamiView protein in Pfam
PF04734 Ceramidase_alk, 1 hit
PF17048 Ceramidse_alk_C, 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 nameiASAH2_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: Q9NR71
Secondary accession number(s): Q3KNU1
, Q5SNT7, Q5SZP6, Q5SZP7, Q5T1D5, Q71ME6
<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 25, 2006
Last sequence update: July 25, 2006
Last modified: January 16, 2019
This is version 134 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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