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UniProtKB - Q9NUN7 (ACER3_HUMAN)

Entry version 148 (18 Sep 2019)
Sequence version 3 (18 May 2010)
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Protein

Alkaline ceramidase 3

Gene

ACER3

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

Endoplasmic reticulum and Golgi ceramidase that catalyzes the hydrolysis of unsaturated long-chain C18:1-, C20:1- and C20:4-ceramides, dihydroceramides and phytoceramides into sphingoid bases like sphingosine and free fatty acids at alkaline pH (PubMed:20068046, PubMed:26792856, PubMed:20207939, PubMed:11356846, PubMed:30575723). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:20068046). Controls the generation of sphingosine in erythrocytes, and thereby sphingosine-1-phosphate in plasma (PubMed:20207939). Through the regulation of ceramides and sphingosine-1-phosphate homeostasis in the brain may play a role in neurons survival and function (By similarity). By regulating the levels of proinflammatory ceramides in immune cells and tissues, may modulate the inflammatory response (By similarity).1 PublicationBy similarity5 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 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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

Activated by 5 mM Ca2+ and inhibited by 5 mM Zn2+.1 Publication

<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>pH dependencei

Optimum pH is 9.5.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: sphingolipid metabolism

This protein is involved in the pathway sphingolipid metabolism, which is part of Lipid metabolism.3 Publications
View all proteins of this organism that are known to be involved in the pathway sphingolipid metabolism and in Lipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 bindingi19CalciumCombined sources1 Publication1
Metal bindingi20Calcium; via carbonyl oxygenCombined sources1 Publication1
Metal bindingi22Calcium; via carbonyl oxygenCombined sources1 Publication1
Metal bindingi24CalciumCombined sources1 Publication1
Metal bindingi33CalciumCombined sources1 Publication1
Metal bindingi81Zinc; catalyticCombined sources1 Publication1
Metal bindingi217Zinc; catalyticCombined sources1 Publication1
Metal bindingi221Zinc; catalyticCombined 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 processLipid 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

More...Reactomei		R-HSA-1660661 Sphingolipid de novo biosynthesis

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00222

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000000680

<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:
Alkaline ceramidase 3 (EC:3.5.1.-3 Publications, EC:3.5.1.234 Publications)
Short name:
AlkCDase 3
Short name:
Alkaline CDase 3
Alternative name(s):
Alkaline dihydroceramidase SB89
Alkaline phytoceramidase
Short name:
aPHC
<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:ACER3
Synonyms:APHC, PHCA
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 11

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:16066 ACER3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		617036 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NUN7

<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 & Seán O’Donoghue; 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 – 33Cytoplasmic1 PublicationAdd BLAST33
<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>Transmembranei34 – 55Helical1 PublicationAdd BLAST22
Topological domaini56 – 61Lumenal1 Publication6
Transmembranei62 – 82Helical1 PublicationAdd BLAST21
Topological domaini83 – 87Cytoplasmic1 Publication5
Transmembranei88 – 108Helical1 PublicationAdd BLAST21
Topological domaini109 – 118Lumenal1 Publication10
Transmembranei119 – 139Helical1 PublicationAdd BLAST21
Topological domaini140 – 141Cytoplasmic1 Publication2
Transmembranei142 – 162Helical1 PublicationAdd BLAST21
Topological domaini163 – 173Lumenal1 PublicationAdd BLAST11
Transmembranei174 – 194Helical1 PublicationAdd BLAST21
Topological domaini195 – 215Cytoplasmic1 PublicationAdd BLAST21
Transmembranei216 – 236Helical1 PublicationAdd BLAST21
Topological domaini237 – 267Lumenal1 PublicationAdd BLAST31

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, 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

<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

Leukodystrophy, progressive, early childhood-onset (PLDECO)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of leukodystrophy, a disorder of myelin production or maintenance affecting the central nervous system. PELCO features include neurological regression between 6 and 13 months of age, truncal hypotonia, appendicular spasticity, dystonia, optic disk pallor, peripheral neuropathy and neurogenic bladder. Brain imaging shows progressive diffuse abnormal white matter signals, cerebral atrophy, and thin corpus callosum. Sural nerve biopsy shows decreased myelination. PLDECO inheritance is autosomal recessive.
Related information in OMIM
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_08120533E → G in PLDECO; impaired protein stability; strongly decreased enzyme activity; decreased ceramide catabolic process; in fibroblasts of patients homozygous for the mutation. 2 PublicationsCorresponds to variant dbSNP:rs1554988032EnsemblClinVar.1

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>Mutagenesisi19D → G: Mildly decreased enzyme activity. 1 Publication1
Mutagenesisi22E → G: Strongly decreased enzyme activity. 1 Publication1
Mutagenesisi24N → G: Strongly decreased enzyme activity. 1 Publication1
Mutagenesisi99S → A: No effect on enzyme activity. 1 Publication1
Mutagenesisi149Y → A: Decreased enzyme activity. 1 Publication1
Mutagenesisi228S → A: No effect on enzyme activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Leukodystrophy

Organism-specific databases

DisGeNET

More...DisGeNETi		55331

MalaCards human disease database

More...MalaCardsi		ACER3
MIMi617762 phenotype

Open Targets

More...OpenTargetsi		ENSG00000078124

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

More...Orphaneti		502444 Alkaline ceramidase 3 deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33256

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ACER3

Domain mapping of disease mutations (DMDM)

More...DMDMi		296439452

<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_00002124631 – 267Alkaline ceramidase 3Add BLAST267

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NUN7

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

More...PaxDbi		Q9NUN7

PeptideAtlas

More...PeptideAtlasi		Q9NUN7

PRoteomics IDEntifications database

More...PRIDEi		Q9NUN7

ProteomicsDB human proteome resource

More...ProteomicsDBi		82700 [Q9NUN7-1]
82701 [Q9NUN7-2]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q9NUN7-1 [Q9NUN7-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NUN7

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

More...PhosphoSitePlusi		Q9NUN7

<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

Ubiquitously expressed. Highly expressed in placenta (PubMed:11356846). Expressed in erythrocytes (PubMed:20207939).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000078124 Expressed in 204 organ(s), highest expression level in placenta

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NUN7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NUN7 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA070087

<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

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		120612, 2 interactors

Protein interaction database and analysis system

More...IntActi		Q9NUN7, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000434480

<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

1267
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q9NUN7

Database of comparative protein structure models

More...ModBasei		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 alkaline ceramidase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2329 Eukaryota
ENOG4111RPN LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00730000110920

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000192011

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NUN7

KEGG Orthology (KO)

More...KOi		K04711

Identification of Orthologs from Complete Genome Data

More...OMAi		VFHQVMY

Database of Orthologous Groups

More...OrthoDBi		969354at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NUN7

TreeFam database of animal gene trees

More...TreeFami		TF313019

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR008901 ACER

The PANTHER Classification System

More...PANTHERi		PTHR46187 PTHR46187, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF05875 Ceramidase, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<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.

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 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NUN7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MAPAADREGY WGPTTSTLDW CEENYSVTWY IAEFWNTVSN LIMIIPPMFG 
        60         70         80         90        100
AVQSVRDGLE KRYIASYLAL TVVGMGSWCF HMTLKYEMQL LDELPMIYSC 
       110        120        130        140        150
CIFVYCMFEC FKIKNSVNYH LLFTLVLFSL IVTTVYLKVK EPIFHQVMYG 
       160        170        180        190        200
MLVFTLVLRS IYIVTWVYPW LRGLGYTSLG IFLLGFLFWN IDNIFCESLR 
       210        220        230        240        250
NFRKKVPPII GITTQFHAWW HILTGLGSYL HILFSLYTRT LYLRYRPKVK 
       260 
FLFGIWPVIL FEPLRKH
Length:267
Mass (Da):31,552
Last modified:May 18, 2010 - v3
<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:iCFD2A901F12A5918
GO
Isoform 2 (identifier: Q9NUN7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-133: Missing.
     134-145: TVYLKVKEPIFH → MAQSRLIGTSTS

Note: No experimental confirmation available.
Show »
Length:134
Mass (Da):15,895
Checksum:i8333C599D48A5525
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B7Z2V2B7Z2V2_HUMAN
Alkaline ceramidase
ACER3
172Annotation score:

Annotation score:2 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>
B7Z2Q2B7Z2Q2_HUMAN
Alkaline ceramidase
ACER3
230Annotation score:

Annotation score:2 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>
E9PIN9E9PIN9_HUMAN
Alkaline ceramidase
ACER3
205Annotation score:

Annotation score:2 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>
E9PKR3E9PKR3_HUMAN
Alkaline ceramidase
ACER3
51Annotation score:

Annotation score:2 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>
E9PR08E9PR08_HUMAN
Alkaline ceramidase
ACER3
80Annotation score:

Annotation score:2 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>
E9PL35E9PL35_HUMAN
Alkaline ceramidase
ACER3
74Annotation score:

Annotation score:2 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>
E9PLZ9E9PLZ9_HUMAN
Alkaline ceramidase
ACER3
71Annotation score:

Annotation score:2 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>
J3KN85J3KN85_HUMAN
Alkaline ceramidase
ACER3
76Annotation score:

Annotation score:2 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 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 conflicti52V → I in AAK71923 (PubMed:11356846).Curated1
Sequence conflicti52V → I in AAL56013 (Ref. 2) Curated1
Sequence conflicti52V → I in BAG37496 (PubMed:14702039).Curated1
Sequence conflicti52V → I in EAW75010 (Ref. 5) Curated1
Sequence conflicti52V → I in AAH73853 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08120533E → G in PLDECO; impaired protein stability; strongly decreased enzyme activity; decreased ceramide catabolic process; in fibroblasts of patients homozygous for the mutation. 2 PublicationsCorresponds to variant dbSNP:rs1554988032EnsemblClinVar.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0391621 – 133Missing in isoform 2. 1 PublicationAdd BLAST133
Alternative sequenceiVSP_039163134 – 145TVYLK…EPIFH → MAQSRLIGTSTS in isoform 2. 1 PublicationAdd BLAST12

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
AF214454 mRNA Translation: AAK71923.1
AF327353 mRNA Translation: AAL56013.1
AK002100 mRNA Translation: BAA92085.1
AK315000 mRNA Translation: BAG37496.1
AP000752 Genomic DNA No translation available.
AP002498 Genomic DNA No translation available.
AP003119 Genomic DNA No translation available.
CH471076 Genomic DNA Translation: EAW75010.1
BC073853 mRNA Translation: AAH73853.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS8247.1 [Q9NUN7-1]

NCBI Reference Sequences

More...RefSeqi		NP_060837.3, NM_018367.6 [Q9NUN7-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000532485; ENSP00000434480; ENSG00000078124 [Q9NUN7-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55331

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55331

UCSC genome browser

More...UCSCi		uc009yum.2 human [Q9NUN7-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AF214454 mRNA Translation: AAK71923.1
AF327353 mRNA Translation: AAL56013.1
AK002100 mRNA Translation: BAA92085.1
AK315000 mRNA Translation: BAG37496.1
AP000752 Genomic DNA No translation available.
AP002498 Genomic DNA No translation available.
AP003119 Genomic DNA No translation available.
CH471076 Genomic DNA Translation: EAW75010.1
BC073853 mRNA Translation: AAH73853.1
CCDSiCCDS8247.1 [Q9NUN7-1]
RefSeqiNP_060837.3, NM_018367.6 [Q9NUN7-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6G7OX-ray2.70A2-244[»]
SMRiQ9NUN7
ModBaseiSearch...

Protein-protein interaction databases

BioGridi120612, 2 interactors
IntActiQ9NUN7, 1 interactor
STRINGi9606.ENSP00000434480

Chemistry databases

SwissLipidsiSLP:000000680

PTM databases

iPTMnetiQ9NUN7
PhosphoSitePlusiQ9NUN7

Polymorphism and mutation databases

BioMutaiACER3
DMDMi296439452

Proteomic databases

MassIVEiQ9NUN7
PaxDbiQ9NUN7
PeptideAtlasiQ9NUN7
PRIDEiQ9NUN7
ProteomicsDBi82700 [Q9NUN7-1]
82701 [Q9NUN7-2]
TopDownProteomicsiQ9NUN7-1 [Q9NUN7-1]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		55331
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000532485; ENSP00000434480; ENSG00000078124 [Q9NUN7-1]
GeneIDi55331
KEGGihsa:55331
UCSCiuc009yum.2 human [Q9NUN7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55331
DisGeNETi55331

GeneCards: human genes, protein and diseases

More...GeneCardsi		ACER3
HGNCiHGNC:16066 ACER3
HPAiHPA070087
MalaCardsiACER3
MIMi617036 gene
617762 phenotype
neXtProtiNX_Q9NUN7
OpenTargetsiENSG00000078124
Orphaneti502444 Alkaline ceramidase 3 deficiency
PharmGKBiPA33256

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2329 Eukaryota
ENOG4111RPN LUCA
GeneTreeiENSGT00730000110920
HOGENOMiHOG000192011
InParanoidiQ9NUN7
KOiK04711
OMAiVFHQVMY
OrthoDBi969354at2759
PhylomeDBiQ9NUN7
TreeFamiTF313019

Enzyme and pathway databases

UniPathwayiUPA00222
BRENDAi3.5.1.23 2681
ReactomeiR-HSA-1660661 Sphingolipid de novo biosynthesis

Miscellaneous databases

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

More...ChiTaRSi		ACER3 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ACER3

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

More...GenomeRNAii		55331

Pharos

More...Pharosi		Q9NUN7

Protein Ontology

More...PROi		PR:Q9NUN7

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000078124 Expressed in 204 organ(s), highest expression level in placenta
ExpressionAtlasiQ9NUN7 baseline and differential
GenevisibleiQ9NUN7 HS

Family and domain databases

InterProiView protein in InterPro
IPR008901 ACER
PANTHERiPTHR46187 PTHR46187, 1 hit
PfamiView protein in Pfam
PF05875 Ceramidase, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiACER3_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: Q9NUN7
Secondary accession number(s): B2RC99
<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: August 14, 2001
Last sequence update: May 18, 2010
Last modified: September 18, 2019
This is version 148 of the entry and version 3 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  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
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  7. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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