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P27544

- CERS1_HUMAN

UniProt

P27544 - CERS1_HUMAN

Protein

Ceramide synthase 1

Gene

CERS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 120 (01 Oct 2014)
      Sequence version 1 (01 Aug 1992)
      Previous versions | rss
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    Functioni

    May be either a bona fide (dihydro)ceramide synthase or a modulator of its activity. When overexpressed in cells is involved in the production of sphingolipids containing mainly one fatty acid donor (N-linked stearoyl- (C18) ceramide) in a fumonisin B1-independent manner By similarity.By similarity

    GO - Molecular functioni

    1. sphingosine N-acyltransferase activity Source: HGNC

    GO - Biological processi

    1. cellular response to dithiothreitol Source: UniProt
    2. cellular response to drug Source: UniProt
    3. cellular response to mycotoxin Source: UniProt
    4. cellular response to UV-A Source: UniProt
    5. ceramide biosynthetic process Source: UniProt
    6. negative regulation of telomerase activity Source: UniProt
    7. small molecule metabolic process Source: Reactome
    8. sphingolipid biosynthetic process Source: UniProt
    9. sphingolipid metabolic process Source: Reactome

    Keywords - Biological processi

    Lipid biosynthesis, Lipid metabolism

    Enzyme and pathway databases

    BioCyciMetaCyc:MONOMER66-34367.
    ReactomeiREACT_115810. Sphingolipid de novo biosynthesis.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ceramide synthase 1
    Short name:
    CerS1
    Alternative name(s):
    LAG1 longevity assurance homolog 1
    Longevity assurance gene 1 protein homolog 1
    Protein UOG-1
    Gene namesi
    Name:CERS1
    Synonyms:LAG1, LASS1, UOG1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:14253. CERS1.

    Subcellular locationi

    Isoform 1 : Endoplasmic reticulum membrane By similarity; Multi-pass membrane protein By similarity. Golgi apparatus membrane By similarity; Multi-pass membrane protein By similarity
    Note: Isoform 1 may recycle from the Golgi to the endoplasmic reticulum.

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProt
    2. endoplasmic reticulum membrane Source: Reactome
    3. Golgi membrane Source: UniProtKB-SubCell
    4. integral component of membrane Source: UniProtKB-KW
    5. intracellular membrane-bounded organelle Source: BHF-UCL
    6. membrane Source: UniProt

    Keywords - Cellular componenti

    Endoplasmic reticulum, Golgi apparatus, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA30299.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 350349Ceramide synthase 1PRO_0000185507Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiP27544.
    PaxDbiP27544.
    PRIDEiP27544.

    PTM databases

    PhosphoSiteiP27544.

    Expressioni

    Gene expression databases

    ArrayExpressiP27544.
    BgeeiP27544.
    CleanExiHS_LASS1.
    GenevestigatoriP27544.

    Organism-specific databases

    HPAiHPA045724.

    Interactioni

    Protein-protein interaction databases

    BioGridi115941. 2 interactions.
    IntActiP27544. 2 interactions.
    MINTiMINT-8247548.
    STRINGi9606.ENSP00000402697.

    Structurei

    3D structure databases

    ProteinModelPortaliP27544.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei53 – 7321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei103 – 12321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei148 – 16821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei176 – 19621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei239 – 25921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei287 – 30721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini97 – 311215TLCPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

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

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG306914.
    HOVERGENiHBG052309.
    KOiK04710.
    OMAiKVLTGQM.
    OrthoDBiEOG7ZD1VB.
    PhylomeDBiP27544.
    TreeFamiTF314319.

    Family and domain databases

    InterProiIPR016439. Longevity_assurance_LAG1_LAC1.
    IPR006634. TLC-dom.
    [Graphical view]
    PfamiPF03798. TRAM_LAG1_CLN8. 1 hit.
    [Graphical view]
    PIRSFiPIRSF005225. LAG1_LAC1. 1 hit.
    SMARTiSM00724. TLC. 1 hit.
    [Graphical view]
    PROSITEiPS50922. TLC. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P27544-1) [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

    MAAAGPAAGP TGPEPMPSYA QLVQRGWGSA LAAARGCTDC GWGLARRGLA    50
    EHAHLAPPEL LLLALGALGW TALRSAATAR LFRPLAKRCC LQPRDAAKMP 100
    ESAWKFLFYL GSWSYSAYLL FGTDYPFFHD PPSVFYDWTP GMAVPRDIAA 150
    AYLLQGSFYG HSIYATLYMD TWRKDSVVML LHHVVTLILI VSSYAFRYHN 200
    VGILVLFLHD ISDVQLEFTK LNIYFKSRGG SYHRLHALAA DLGCLSFGFS 250
    WFWFRLYWFP LKVLYATSHC SLRTVPDIPF YFFFNALLLL LTLMNLYWFL 300
    YIVAFAAKVL TGQVHELKDL REYDTAEAQS LKPSKAEKPL RNGLVKDKRF 350
    Length:350
    Mass (Da):39,536
    Last modified:August 1, 1992 - v1
    Checksum:iF102C12C47DB4162
    GO
    Isoform 2 (identifier: P27544-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         338-350: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:337
    Mass (Da):37,983
    Checksum:i563C0D539D8E1E5C
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti111 – 1111G → C in AAH22450. (PubMed:15489334)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei338 – 35013Missing in isoform 2. 1 PublicationVSP_003049Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M62302 mRNA. Translation: AAA58500.1.
    AF105009
    , AF105005, AF105006, AF105007, AF105008 Genomic DNA. Translation: AAD16892.1.
    AC005197 Genomic DNA. Translation: AAC24611.1.
    AC003972 Genomic DNA. No translation available.
    BC022450 mRNA. Translation: AAH22450.1.
    CCDSiCCDS46020.1. [P27544-1]
    CCDS46021.1. [P27544-2]
    PIRiD39364.
    RefSeqiNP_067090.1. NM_021267.4. [P27544-1]
    NP_937850.1. NM_198207.2. [P27544-2]
    UniGeneiHs.412355.

    Genome annotation databases

    EnsembliENST00000429504; ENSP00000389044; ENSG00000223802. [P27544-2]
    GeneIDi10715.
    KEGGihsa:10715.
    UCSCiuc002nki.1. human. [P27544-1]

    Polymorphism databases

    DMDMi137046.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M62302 mRNA. Translation: AAA58500.1 .
    AF105009
    , AF105005 , AF105006 , AF105007 , AF105008 Genomic DNA. Translation: AAD16892.1 .
    AC005197 Genomic DNA. Translation: AAC24611.1 .
    AC003972 Genomic DNA. No translation available.
    BC022450 mRNA. Translation: AAH22450.1 .
    CCDSi CCDS46020.1. [P27544-1 ]
    CCDS46021.1. [P27544-2 ]
    PIRi D39364.
    RefSeqi NP_067090.1. NM_021267.4. [P27544-1 ]
    NP_937850.1. NM_198207.2. [P27544-2 ]
    UniGenei Hs.412355.

    3D structure databases

    ProteinModelPortali P27544.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115941. 2 interactions.
    IntActi P27544. 2 interactions.
    MINTi MINT-8247548.
    STRINGi 9606.ENSP00000402697.

    PTM databases

    PhosphoSitei P27544.

    Polymorphism databases

    DMDMi 137046.

    Proteomic databases

    MaxQBi P27544.
    PaxDbi P27544.
    PRIDEi P27544.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000429504 ; ENSP00000389044 ; ENSG00000223802 . [P27544-2 ]
    GeneIDi 10715.
    KEGGi hsa:10715.
    UCSCi uc002nki.1. human. [P27544-1 ]

    Organism-specific databases

    CTDi 10715.
    GeneCardsi GC19M018982.
    HGNCi HGNC:14253. CERS1.
    HPAi HPA045724.
    MIMi 606919. gene.
    neXtProti NX_P27544.
    PharmGKBi PA30299.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG306914.
    HOVERGENi HBG052309.
    KOi K04710.
    OMAi KVLTGQM.
    OrthoDBi EOG7ZD1VB.
    PhylomeDBi P27544.
    TreeFami TF314319.

    Enzyme and pathway databases

    BioCyci MetaCyc:MONOMER66-34367.
    Reactomei REACT_115810. Sphingolipid de novo biosynthesis.

    Miscellaneous databases

    GeneWikii LASS1.
    GenomeRNAii 10715.
    NextBioi 40679.
    PROi P27544.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P27544.
    Bgeei P27544.
    CleanExi HS_LASS1.
    Genevestigatori P27544.

    Family and domain databases

    InterProi IPR016439. Longevity_assurance_LAG1_LAC1.
    IPR006634. TLC-dom.
    [Graphical view ]
    Pfami PF03798. TRAM_LAG1_CLN8. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF005225. LAG1_LAC1. 1 hit.
    SMARTi SM00724. TLC. 1 hit.
    [Graphical view ]
    PROSITEi PS50922. TLC. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Expression of growth/differentiation factor 1 in the nervous system: conservation of a bicistronic structure."
      Lee S.-J.
      Proc. Natl. Acad. Sci. U.S.A. 88:4250-4254(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Homologs of the yeast longevity gene LAG1 in Caenorhabditis elegans and human."
      Jiang J.C., Kirchman P.A., Zagulski M., Hunt J., Jazwinski S.M.
      Genome Res. 8:1259-1272(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
    3. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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] (ISOFORM 2).
      Tissue: Hypothalamus.
    5. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
      Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
      Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiCERS1_HUMAN
    AccessioniPrimary (citable) accession number: P27544
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 1, 1992
    Last sequence update: August 1, 1992
    Last modified: October 1, 2014
    This is version 120 of the entry and version 1 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

    Miscellaneous

    This protein is produced by a bicistronic gene which also produces the GDF1 protein from a non-overlapping reading frame.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3