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Q8IU89

- CERS3_HUMAN

UniProt

Q8IU89 - CERS3_HUMAN

Protein

Ceramide synthase 3

Gene

CERS3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 110 (01 Oct 2014)
      Sequence version 2 (08 Feb 2011)
      Previous versions | rss
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    Functioni

    Has (dihydro)ceramide synthesis activity with relatively broad substrate specificity, but a preference for C18:0 and other middle- to long-chain fatty acyl-CoAs By similarity. It is crucial for the synthesis of very long-chain ceramides in the epidermis, to maintain epidermal lipid homeostasis and terminal differentiation.By similarity1 Publication

    Catalytic activityi

    Acyl-CoA + sphingosine = CoA + N-acylsphingosine.
    Acyl-CoA + dihydrosphingosine = CoA + N-acyldihydrosphingosine.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi66 – 12762HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. sequence-specific DNA binding Source: InterPro
    2. sequence-specific DNA binding transcription factor activity Source: InterPro
    3. sphingosine N-acyltransferase activity Source: UniProtKB-EC

    GO - Biological processi

    1. ceramide biosynthetic process Source: UniProtKB
    2. keratinocyte differentiation Source: UniProtKB
    3. small molecule metabolic process Source: Reactome
    4. sphingolipid biosynthetic process Source: Reactome
    5. sphingolipid metabolic process Source: Reactome

    Keywords - Molecular functioni

    Transferase

    Keywords - Biological processi

    Lipid biosynthesis, Lipid metabolism

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_115810. Sphingolipid de novo biosynthesis.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ceramide synthase 3 (EC:2.3.1.24)
    Short name:
    CerS3
    Alternative name(s):
    Dihydroceramide synthase 3
    LAG1 longevity assurance homolog 3
    Gene namesi
    Name:CERS3
    Synonyms:LASS3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:23752. CERS3.

    Subcellular locationi

    Nucleus membrane PROSITE-ProRule annotation; Multi-pass membrane protein Curated

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: Reactome
    2. integral component of membrane Source: UniProtKB-KW
    3. nuclear membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Membrane, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Ichthyosis, congenital, autosomal recessive 9 (ARCI9) [MIM:615023]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Ichthyosis

    Organism-specific databases

    MIMi615023. phenotype.
    Orphaneti79394. Congenital non-bullous ichthyosiform erythroderma.
    363992. Ichthyosis-short stature-brachydactyly-microspherophakia syndrome.
    PharmGKBiPA134873153.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 383383Ceramide synthase 3PRO_0000185511Add
    BLAST

    Proteomic databases

    PaxDbiQ8IU89.
    PRIDEiQ8IU89.

    PTM databases

    PhosphoSiteiQ8IU89.

    Expressioni

    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

    ArrayExpressiQ8IU89.
    BgeeiQ8IU89.
    CleanExiHS_LASS3.
    GenevestigatoriQ8IU89.

    Organism-specific databases

    HPAiHPA006092.
    HPA024356.

    Interactioni

    Protein-protein interaction databases

    BioGridi128485. 3 interactions.
    STRINGi9606.ENSP00000284382.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IU89.
    SMRiQ8IU89. Positions 79-127.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei32 – 5221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei139 – 15921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei174 – 19421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei205 – 22521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei264 – 28421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei298 – 31821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini130 – 331202TLCPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi346 – 35510Poly-Glu

    Sequence similaritiesi

    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation
    Contains 1 TLC (TRAM/LAG1/CLN8) domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG5058.
    HOVERGENiHBG052310.
    InParanoidiQ8IU89.
    KOiK04710.
    OMAiFRSRRNQ.
    OrthoDBiEOG7CZK7X.
    PhylomeDBiQ8IU89.
    TreeFamiTF314319.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR016439. Longevity_assurance_LAG1_LAC1.
    IPR006634. TLC-dom.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    PF03798. TRAM_LAG1_CLN8. 1 hit.
    [Graphical view]
    PIRSFiPIRSF005225. LAG1_LAC1. 1 hit.
    SMARTiSM00389. HOX. 1 hit.
    SM00724. TLC. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS50071. HOMEOBOX_2. 1 hit.
    PS50922. TLC. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q8IU89-1 [UniParc]FASTAAdd to Basket

    « Hide

    MFWTFKEWFW LERFWLPPTI KWSDLEDHDG LVFVKPSHLY VTIPYAFLLL    50
    IIRRVFEKFV ASPLAKSFGI KETVRKVTPN TVLENFFKHS TRQPLQTDIY 100
    GLAKKCNLTE RQVERWFRSR RNQERPSRLK KFQEACWRFA FYLMITVAGI 150
    AFLYDKPWLY DLWEVWNGYP KQPLLPSQYW YYILEMSFYW SLLFRLGFDV 200
    KRKDFLAHII HHLAAISLMS FSWCANYIRS GTLVMIVHDV ADIWLESAKM 250
    FSYAGWTQTC NTLFFIFSTI FFISRLIVFP FWILYCTLIL PMYHLEPFFS 300
    YIFLNLQLMI LQVLHLYWGY YILKMLNRCI FMKSIQDVRS DDEDYEEEEE 350
    EEEEEATKGK EMDCLKNGLR AERHLIPNGQ HGH 383
    Length:383
    Mass (Da):46,316
    Last modified:February 8, 2011 - v2
    Checksum:i6711189C189C8469
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti144 – 1441Missing in AAH34500. (PubMed:15489334)Curated
    Sequence conflicti316 – 3161L → R in AAH28703. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti45 – 451Y → C.
    Corresponds to variant rs60405735 [ dbSNP | Ensembl ].
    VAR_061847
    Natural varianti342 – 3421D → G.
    Corresponds to variant rs1023783 [ dbSNP | Ensembl ].
    VAR_057276
    Natural varianti370 – 3701R → G.1 Publication
    Corresponds to variant rs2439928 [ dbSNP | Ensembl ].
    VAR_019328

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_001290341.1.
    NP_001277271.1. NM_001290342.1.
    NP_001277272.1. NM_001290343.1.
    NP_849164.2. NM_178842.3.
    XP_006720497.1. XM_006720434.1.
    UniGeneiHs.662371.

    Genome annotation databases

    EnsembliENST00000284382; ENSP00000284382; ENSG00000154227.
    ENST00000394113; ENSP00000377672; ENSG00000154227.
    ENST00000538112; ENSP00000437640; ENSG00000154227.
    GeneIDi204219.
    KEGGihsa:204219.
    UCSCiuc002bvz.3. human.

    Polymorphism databases

    DMDMi322510043.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS10384.1.
    RefSeqi NP_001277270.1. NM_001290341.1.
    NP_001277271.1. NM_001290342.1.
    NP_001277272.1. NM_001290343.1.
    NP_849164.2. NM_178842.3.
    XP_006720497.1. XM_006720434.1.
    UniGenei Hs.662371.

    3D structure databases

    ProteinModelPortali Q8IU89.
    SMRi Q8IU89. Positions 79-127.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 128485. 3 interactions.
    STRINGi 9606.ENSP00000284382.

    PTM databases

    PhosphoSitei Q8IU89.

    Polymorphism databases

    DMDMi 322510043.

    Proteomic databases

    PaxDbi Q8IU89.
    PRIDEi Q8IU89.

    Protocols and materials databases

    DNASUi 204219.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000284382 ; ENSP00000284382 ; ENSG00000154227 .
    ENST00000394113 ; ENSP00000377672 ; ENSG00000154227 .
    ENST00000538112 ; ENSP00000437640 ; ENSG00000154227 .
    GeneIDi 204219.
    KEGGi hsa:204219.
    UCSCi uc002bvz.3. human.

    Organism-specific databases

    CTDi 204219.
    GeneCardsi GC15M100941.
    HGNCi HGNC:23752. CERS3.
    HPAi HPA006092.
    HPA024356.
    MIMi 615023. phenotype.
    615276. gene.
    neXtProti NX_Q8IU89.
    Orphaneti 79394. Congenital non-bullous ichthyosiform erythroderma.
    363992. Ichthyosis-short stature-brachydactyly-microspherophakia syndrome.
    PharmGKBi PA134873153.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5058.
    HOVERGENi HBG052310.
    InParanoidi Q8IU89.
    KOi K04710.
    OMAi FRSRRNQ.
    OrthoDBi EOG7CZK7X.
    PhylomeDBi Q8IU89.
    TreeFami TF314319.

    Enzyme and pathway databases

    Reactomei REACT_115810. Sphingolipid de novo biosynthesis.

    Miscellaneous databases

    GenomeRNAii 204219.
    NextBioi 90468.
    PROi Q8IU89.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8IU89.
    Bgeei Q8IU89.
    CleanExi HS_LASS3.
    Genevestigatori Q8IU89.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR016439. Longevity_assurance_LAG1_LAC1.
    IPR006634. TLC-dom.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    PF03798. TRAM_LAG1_CLN8. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF005225. LAG1_LAC1. 1 hit.
    SMARTi SM00389. HOX. 1 hit.
    SM00724. TLC. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS50071. HOMEOBOX_2. 1 hit.
    PS50922. TLC. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLY-370.
      Tissue: Testis.
    3. Cited for: FUNCTION, TISSUE SPECIFICITY, INVOLVEMENT IN ARCI9.

    Entry informationi

    Entry nameiCERS3_HUMAN
    AccessioniPrimary (citable) accession number: Q8IU89
    Secondary accession number(s): Q8NE64, Q8NEN6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 19, 2004
    Last sequence update: February 8, 2011
    Last modified: October 1, 2014
    This is version 110 of the entry and version 2 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3