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Q8N5B7

- CERS5_HUMAN

UniProt

Q8N5B7 - CERS5_HUMAN

Protein

Ceramide synthase 5

Gene

CERS5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 113 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    Functioni

    Dihydroceramide synthase. Catalyzes the acylation of sphingosine to form dihydroceramide, with high selectivity toward palmitoyl-CoA as acyl donor compared to stearoyl-CoA. Inhibited by fumonisin B1 By similarity.By similarity

    Catalytic activityi

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

    Pathwayi

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi75 – 13662HomeoboxPROSITE-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: HGNC

    GO - Biological processi

    1. ceramide biosynthetic process Source: HGNC
    2. small molecule metabolic process Source: Reactome
    3. sphingolipid biosynthetic process Source: Reactome
    4. sphingolipid metabolic process Source: Reactome

    Keywords - Molecular functioni

    Transferase

    Keywords - Biological processi

    Lipid biosynthesis, Lipid metabolism, Sphingolipid metabolism

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_115810. Sphingolipid de novo biosynthesis.
    UniPathwayiUPA00222.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ceramide synthase 5 (EC:2.3.1.24)
    Short name:
    CerS5
    Alternative name(s):
    LAG1 longevity assurance homolog 5
    Gene namesi
    Name:CERS5
    Synonyms:LASS5
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:23749. CERS5.

    Subcellular locationi

    Nucleus membrane PROSITE-ProRule annotation; Multi-pass membrane protein Curated. Endoplasmic reticulum membrane By similarity; Multi-pass membrane protein By similarity

    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

    Endoplasmic reticulum, Membrane, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134882694.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 392392Ceramide synthase 5PRO_0000185514Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi26 – 261N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ8N5B7.
    PaxDbiQ8N5B7.
    PRIDEiQ8N5B7.

    PTM databases

    PhosphoSiteiQ8N5B7.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8N5B7.
    BgeeiQ8N5B7.
    CleanExiHS_LASS5.
    GenevestigatoriQ8N5B7.

    Organism-specific databases

    HPAiHPA026589.

    Interactioni

    Protein-protein interaction databases

    BioGridi124788. 1 interaction.
    STRINGi9606.ENSP00000325485.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N5B7.
    SMRiQ8N5B7. Positions 86-135.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 4646LumenalSequence AnalysisAdd
    BLAST
    Topological domaini68 – 14780CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini169 – 18214LumenalSequence AnalysisAdd
    BLAST
    Topological domaini204 – 21310CytoplasmicSequence Analysis
    Topological domaini235 – 27137LumenalSequence AnalysisAdd
    BLAST
    Topological domaini293 – 31018CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini332 – 39261LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei47 – 6721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei148 – 16821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei183 – 20321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei214 – 23421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei272 – 29221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei311 – 33121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini139 – 340202TLCPROSITE-ProRule annotationAdd
    BLAST

    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.
    InParanoidiQ8N5B7.
    KOiK04710.
    OMAiGGSYWAE.
    PhylomeDBiQ8N5B7.
    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]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N5B7-1) [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

    MATAAQGPLS LLWGWLWSER FWLPENVSWA DLEGPADGYG YPRGRHILSV    50
    FPLAAGIFFV RLLFERFIAK PCALCIGIED SGPYQAQPNA ILEKVFISIT 100
    KYPDKKRLEG LSKQLDWNVR KIQCWFRHRR NQDKPPTLTK FCESMWRFTF 150
    YLCIFCYGIR FLWSSPWFWD IRQCWHNYPF QPLSSGLYHY YIMELAFYWS 200
    LMFSQFTDIK RKDFLIMFVH HLVTIGLISF SYINNMVRVG TLIMCLHDVS 250
    DFLLEAAKLA NYAKYQRLCD TLFVIFSAVF MVTRLGIYPF WILNTTLFES 300
    WEIIGPYASW WLLNGLLLTL QLLHVIWSYL IARIALKALI RGKVSKDDRS 350
    DVESSSEEED VTTCTKSPCD SSSSNGANRV NGHMGGSYWA EE 392
    Length:392
    Mass (Da):45,752
    Last modified:October 1, 2002 - v1
    Checksum:iE95658B20CE114B5
    GO
    Isoform 2 (identifier: Q8N5B7-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-65: MATAAQGPLSLLWGWLWSERFWLPENVSWADLEGPADGYGYPRGRHILSVFPLAAGIFFVRLLFE → MMKPRPK

    Note: No experimental confirmation available.

    Show »
    Length:334
    Mass (Da):39,259
    Checksum:i6B5BF2BE15719766
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti75 – 751C → R.
    Corresponds to variant rs7302981 [ dbSNP | Ensembl ].
    VAR_019558

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 6565MATAA…RLLFE → MMKPRPK in isoform 2. 1 PublicationVSP_054572Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK300937 mRNA. Translation: BAG62566.1.
    AC074032 Genomic DNA. No translation available.
    AC139016 Genomic DNA. No translation available.
    CH471111 Genomic DNA. Translation: EAW58133.1.
    BC032565 mRNA. Translation: AAH32565.1.
    CCDSiCCDS61120.1. [Q8N5B7-2]
    CCDS8801.1. [Q8N5B7-1]
    RefSeqiNP_001268660.1. NM_001281731.1. [Q8N5B7-2]
    NP_671723.1. NM_147190.3. [Q8N5B7-1]
    UniGeneiHs.270525.

    Genome annotation databases

    GeneIDi91012.
    KEGGihsa:91012.
    UCSCiuc001rwd.4. human. [Q8N5B7-1]
    uc001rwe.4. human.

    Polymorphism databases

    DMDMi51316484.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK300937 mRNA. Translation: BAG62566.1 .
    AC074032 Genomic DNA. No translation available.
    AC139016 Genomic DNA. No translation available.
    CH471111 Genomic DNA. Translation: EAW58133.1 .
    BC032565 mRNA. Translation: AAH32565.1 .
    CCDSi CCDS61120.1. [Q8N5B7-2 ]
    CCDS8801.1. [Q8N5B7-1 ]
    RefSeqi NP_001268660.1. NM_001281731.1. [Q8N5B7-2 ]
    NP_671723.1. NM_147190.3. [Q8N5B7-1 ]
    UniGenei Hs.270525.

    3D structure databases

    ProteinModelPortali Q8N5B7.
    SMRi Q8N5B7. Positions 86-135.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124788. 1 interaction.
    STRINGi 9606.ENSP00000325485.

    PTM databases

    PhosphoSitei Q8N5B7.

    Polymorphism databases

    DMDMi 51316484.

    Proteomic databases

    MaxQBi Q8N5B7.
    PaxDbi Q8N5B7.
    PRIDEi Q8N5B7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 91012.
    KEGGi hsa:91012.
    UCSCi uc001rwd.4. human. [Q8N5B7-1 ]
    uc001rwe.4. human.

    Organism-specific databases

    CTDi 91012.
    GeneCardsi GC12M050524.
    HGNCi HGNC:23749. CERS5.
    HPAi HPA026589.
    MIMi 615335. gene.
    neXtProti NX_Q8N5B7.
    PharmGKBi PA134882694.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5058.
    HOVERGENi HBG052310.
    InParanoidi Q8N5B7.
    KOi K04710.
    OMAi GGSYWAE.
    PhylomeDBi Q8N5B7.
    TreeFami TF314319.

    Enzyme and pathway databases

    UniPathwayi UPA00222 .
    Reactomei REACT_115810. Sphingolipid de novo biosynthesis.

    Miscellaneous databases

    ChiTaRSi CERS5. human.
    GenomeRNAii 91012.
    NextBioi 35475360.
    PROi Q8N5B7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8N5B7.
    Bgeei Q8N5B7.
    CleanExi HS_LASS5.
    Genevestigatori Q8N5B7.

    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. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Small intestine.
    2. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. 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 1).
      Tissue: Eye.

    Entry informationi

    Entry nameiCERS5_HUMAN
    AccessioniPrimary (citable) accession number: Q8N5B7
    Secondary accession number(s): B4DV54
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 16, 2004
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 113 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3