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Entry version 152 (17 Jun 2020)
Sequence version 2 (08 Feb 2011)
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Protein

Ceramide synthase 3

Gene

CERS3

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

Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward very-long (C22:0-C24:0) and ultra long chain (more than C26:0) as acyl donor (PubMed:17977534, PubMed:22038835, PubMed:26887952). It is crucial for the synthesis of ultra long-chain ceramides in the epidermis, to maintain epidermal lipid homeostasis and terminal. differentiation (PubMed:23754960).4 Publications

Caution

Some prediction bioinformatics tools predict the presence of a homeobox domain (By similarity). However, the domain is degenerate and residues that are important for DNA-binding are absent (By similarity).Sequence analysis

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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=1.7 µM for sphinganine1 Publication

    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'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.

    <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 functionTransferase
    Biological processLipid biosynthesis, Lipid metabolism

    Enzyme and pathway databases

    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:000000259

    <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%5Fand%5Ftaxonomy%5Fsection">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:
    Ceramide synthase 31 Publication (EC:2.3.1.-3 Publications)
    Short name:
    CerS31 Publication
    Alternative name(s):
    Dihydroceramide synthase 3Curated
    LAG1 longevity assurance homolog 3By similarity
    Sphingosine N-acyltransferase CERS3Curated (EC:2.3.1.24By similarity)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:CERS31 PublicationImported
    Synonyms:LASS3By similarity
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 15

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000154227.13

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:23752 CERS3

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    615276 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q8IU89

    <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%5Flocation%5Fsection">'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>Transmembranei32 – 52HelicalSequence analysisAdd BLAST21
    Transmembranei139 – 159HelicalSequence analysisAdd BLAST21
    Transmembranei174 – 194HelicalSequence analysisAdd BLAST21
    Transmembranei205 – 225HelicalSequence analysisAdd BLAST21
    Transmembranei264 – 284HelicalSequence analysisAdd BLAST21
    Transmembranei298 – 318HelicalSequence analysisAdd BLAST21
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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 domaini319 – 383Cytoplasmic1 PublicationAdd BLAST65

    Keywords - Cellular componenti

    Endoplasmic reticulum, 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

    Ichthyosis, congenital, autosomal recessive 9 (ARCI9)1 Publication
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.
    Related information in OMIM

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi340S → A: Decreased phosphorylation. 1 Publication1

    Keywords - Diseasei

    Ichthyosis

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    204219

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

    More...
    GeneReviewsi
    CERS3

    MalaCards human disease database

    More...
    MalaCardsi
    CERS3
    MIMi615023 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000154227

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

    More...
    Orphaneti
    79394 Congenital non-bullous ichthyosiform erythroderma
    363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA134873153

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    Q8IU89 Tbio

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    CERS3

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    322510043

    <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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001855111 – 383Ceramide synthase 3Add BLAST383

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei340Phosphoserine1 Publication1

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    Q8IU89

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

    More...
    PaxDbi
    Q8IU89

    PeptideAtlas

    More...
    PeptideAtlasi
    Q8IU89

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q8IU89

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    70524

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q8IU89

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

    More...
    PhosphoSitePlusi
    Q8IU89

    <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

    Expressed in the epidermis, where it localizes at the interface between the stratum granulosum and the stratum corneum (at protein level).1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000154227 Expressed in lower esophagus mucosa and 90 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q8IU89 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q8IU89 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    ENSG00000154227 Tissue enhanced (esophagus, skin, testis)

    <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%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

    Hide details

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...
    BioGRIDi
    128485, 1 interactor

    Protein interaction database and analysis system

    More...
    IntActi
    Q8IU89, 5 interactors

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000284382

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...
    RNActi
    Q8IU89 protein

    <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

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

    More...
    SMRi
    Q8IU89

    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

    Domains and Repeats

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini130 – 331TLCPROSITE-ProRule annotationAdd BLAST202

    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>Regioni66 – 127Homeobox-likeCuratedAdd BLAST62

    Compositional bias

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi346 – 355Poly-Glu10

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG1607 Eukaryota
    COG5058 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00990000203632

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    CLU_028277_1_1_1

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q8IU89

    KEGG Orthology (KO)

    More...
    KOi
    K04710

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    MLKRCIF

    Database of Orthologous Groups

    More...
    OrthoDBi
    987268at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q8IU89

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF314319

    Family and domain databases

    Conserved Domains Database

    More...
    CDDi
    cd00086 homeodomain, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR009057 Homeobox-like_sf
    IPR001356 Homeobox_dom
    IPR016439 Lag1/Lac1-like
    IPR006634 TLC-dom

    The PANTHER Classification System

    More...
    PANTHERi
    PTHR12560 PTHR12560, 1 hit

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF00046 Homeodomain, 1 hit
    PF03798 TRAM_LAG1_CLN8, 1 hit

    PIRSF; a whole-protein classification database

    More...
    PIRSFi
    PIRSF005225 LAG1_LAC1, 1 hit

    Simple Modular Architecture Research Tool; a protein domain database

    More...
    SMARTi
    View protein in SMART
    SM00389 HOX, 1 hit
    SM00724 TLC, 1 hit

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF46689 SSF46689, 1 hit

    PROSITE; a protein domain and family database

    More...
    PROSITEi
    View protein in PROSITE
    PS50922 TLC, 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%5Flength">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>Sequence (1+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

    Q8IU89-1 [UniParc]FASTAAdd to basket
    « Hide
            10         20         30         40         50
    MFWTFKEWFW LERFWLPPTI KWSDLEDHDG LVFVKPSHLY VTIPYAFLLL
    60 70 80 90 100
    IIRRVFEKFV ASPLAKSFGI KETVRKVTPN TVLENFFKHS TRQPLQTDIY
    110 120 130 140 150
    GLAKKCNLTE RQVERWFRSR RNQERPSRLK KFQEACWRFA FYLMITVAGI
    160 170 180 190 200
    AFLYDKPWLY DLWEVWNGYP KQPLLPSQYW YYILEMSFYW SLLFRLGFDV
    210 220 230 240 250
    KRKDFLAHII HHLAAISLMS FSWCANYIRS GTLVMIVHDV ADIWLESAKM
    260 270 280 290 300
    FSYAGWTQTC NTLFFIFSTI FFISRLIVFP FWILYCTLIL PMYHLEPFFS
    310 320 330 340 350
    YIFLNLQLMI LQVLHLYWGY YILKMLNRCI FMKSIQDVRS DDEDYEEEEE
    360 370 380
    EEEEEATKGK EMDCLKNGLR AERHLIPNGQ HGH
    Length:383
    Mass (Da):46,316
    Last modified:February 8, 2011 - 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:i6711189C189C8469
    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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    H0YN05H0YN05_HUMAN
    Ceramide synthase 3
    CERS3
    162Annotation 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>
    H0YMG6H0YMG6_HUMAN
    Ceramide synthase 3
    CERS3
    15Annotation 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>

    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 conflicti144Missing in AAH34500 (PubMed:15489334).Curated1
    Sequence conflicti316L → R in AAH28703 (PubMed:15489334).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_06184745Y → C. Corresponds to variant dbSNP:rs60405735Ensembl.1
    Natural variantiVAR_057276342D → G. Corresponds to variant dbSNP:rs1023783Ensembl.1
    Natural variantiVAR_019328370R → G1 PublicationCorresponds to variant dbSNP:rs2439928Ensembl.1

    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
    AC015723 Genomic DNA No translation available.
    AC027020 Genomic DNA No translation available.
    BC028703 mRNA Translation: AAH28703.1
    BC034500 mRNA Translation: AAH34500.1
    BC034970 mRNA Translation: AAH34970.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS10384.1

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001277270.1, NM_001290341.2
    NP_001277271.1, NM_001290342.2
    NP_001277272.1, NM_001290343.1
    NP_849164.2, NM_178842.4
    XP_016877492.1, XM_017022003.1
    XP_016877493.1, XM_017022004.1

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

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    Ensembli
    ENST00000284382; ENSP00000284382; ENSG00000154227
    ENST00000394113; ENSP00000377672; ENSG00000154227
    ENST00000538112; ENSP00000437640; ENSG00000154227

    Database of genes from NCBI RefSeq genomes

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    GeneIDi
    204219

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:204219

    UCSC genome browser

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    UCSCi
    uc002bvz.4 human

    Keywords - Coding sequence diversityi

    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
    AC015723 Genomic DNA No translation available.
    AC027020 Genomic DNA No translation available.
    BC028703 mRNA Translation: AAH28703.1
    BC034500 mRNA Translation: AAH34500.1
    BC034970 mRNA Translation: AAH34970.1
    CCDSiCCDS10384.1
    RefSeqiNP_001277270.1, NM_001290341.2
    NP_001277271.1, NM_001290342.2
    NP_001277272.1, NM_001290343.1
    NP_849164.2, NM_178842.4
    XP_016877492.1, XM_017022003.1
    XP_016877493.1, XM_017022004.1

    3D structure databases

    SMRiQ8IU89
    ModBaseiSearch...

    Protein-protein interaction databases

    BioGRIDi128485, 1 interactor
    IntActiQ8IU89, 5 interactors
    STRINGi9606.ENSP00000284382

    Chemistry databases

    SwissLipidsiSLP:000000259

    PTM databases

    iPTMnetiQ8IU89
    PhosphoSitePlusiQ8IU89

    Polymorphism and mutation databases

    BioMutaiCERS3
    DMDMi322510043

    Proteomic databases

    MassIVEiQ8IU89
    PaxDbiQ8IU89
    PeptideAtlasiQ8IU89
    PRIDEiQ8IU89
    ProteomicsDBi70524

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

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    Antibodypediai
    1805 143 antibodies

    The DNASU plasmid repository

    More...
    DNASUi
    204219

    Genome annotation databases

    EnsembliENST00000284382; ENSP00000284382; ENSG00000154227
    ENST00000394113; ENSP00000377672; ENSG00000154227
    ENST00000538112; ENSP00000437640; ENSG00000154227
    GeneIDi204219
    KEGGihsa:204219
    UCSCiuc002bvz.4 human

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    204219
    DisGeNETi204219
    EuPathDBiHostDB:ENSG00000154227.13

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    CERS3
    GeneReviewsiCERS3
    HGNCiHGNC:23752 CERS3
    HPAiENSG00000154227 Tissue enhanced (esophagus, skin, testis)
    MalaCardsiCERS3
    MIMi615023 phenotype
    615276 gene
    neXtProtiNX_Q8IU89
    OpenTargetsiENSG00000154227
    Orphaneti79394 Congenital non-bullous ichthyosiform erythroderma
    363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
    PharmGKBiPA134873153

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG1607 Eukaryota
    COG5058 LUCA
    GeneTreeiENSGT00990000203632
    HOGENOMiCLU_028277_1_1_1
    InParanoidiQ8IU89
    KOiK04710
    OMAiMLKRCIF
    OrthoDBi987268at2759
    PhylomeDBiQ8IU89
    TreeFamiTF314319

    Enzyme and pathway databases

    UniPathwayiUPA00222
    ReactomeiR-HSA-1660661 Sphingolipid de novo biosynthesis

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...
    BioGRID-ORCSi
    204219 3 hits in 810 CRISPR screens

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

    More...
    ChiTaRSi
    CERS3 human

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

    More...
    GenomeRNAii
    204219
    PharosiQ8IU89 Tbio

    Protein Ontology

    More...
    PROi
    PR:Q8IU89
    RNActiQ8IU89 protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000154227 Expressed in lower esophagus mucosa and 90 other tissues
    ExpressionAtlasiQ8IU89 baseline and differential
    GenevisibleiQ8IU89 HS

    Family and domain databases

    CDDicd00086 homeodomain, 1 hit
    InterProiView protein in InterPro
    IPR009057 Homeobox-like_sf
    IPR001356 Homeobox_dom
    IPR016439 Lag1/Lac1-like
    IPR006634 TLC-dom
    PANTHERiPTHR12560 PTHR12560, 1 hit
    PfamiView protein in Pfam
    PF00046 Homeodomain, 1 hit
    PF03798 TRAM_LAG1_CLN8, 1 hit
    PIRSFiPIRSF005225 LAG1_LAC1, 1 hit
    SMARTiView protein in SMART
    SM00389 HOX, 1 hit
    SM00724 TLC, 1 hit
    SUPFAMiSSF46689 SSF46689, 1 hit
    PROSITEiView protein in PROSITE
    PS50922 TLC, 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 nameiCERS3_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: Q8IU89
    Secondary accession number(s): Q8NE64, Q8NEN6
    <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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
    Last sequence update: February 8, 2011
    Last modified: June 17, 2020
    This is version 152 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

    Reference proteome

    Documents

    1. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    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. Human chromosome 15
      Human chromosome 15: entries, gene names and cross-references to MIM
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