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Q6ZMG9

- CERS6_HUMAN

UniProt

Q6ZMG9 - CERS6_HUMAN

Protein

Ceramide synthase 6

Gene

CERS6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

    May be involved in sphingolipid synthesis or its regulation.By similarity

    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: Ensembl

    GO - Biological processi

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

    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 6
    Short name:
    CerS6
    Alternative name(s):
    LAG1 longevity assurance homolog 6
    Gene namesi
    Name:CERS6
    Synonyms:LASS6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:23826. CERS6.

    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. membrane Source: UniProtKB
    4. nuclear membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134925480.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 384384Ceramide synthase 6PRO_0000185516Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi18 – 181N-linked (GlcNAc...)1 Publication

    Post-translational modificationi

    Glycosylation on Asn-18 is not necessary for function.By similarity

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ6ZMG9.
    PaxDbiQ6ZMG9.
    PRIDEiQ6ZMG9.

    PTM databases

    PhosphoSiteiQ6ZMG9.

    Expressioni

    Gene expression databases

    BgeeiQ6ZMG9.
    CleanExiHS_LASS6.
    GenevestigatoriQ6ZMG9.

    Organism-specific databases

    HPAiHPA044683.

    Interactioni

    Protein-protein interaction databases

    BioGridi128987. 2 interactions.
    STRINGi9606.ENSP00000306579.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6ZMG9.
    SMRiQ6ZMG9. Positions 77-127.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 3434LumenalSequence AnalysisAdd
    BLAST
    Topological domaini56 – 177122CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini199 – 2046LumenalSequence Analysis
    Topological domaini226 – 26237CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini284 – 30219LumenalSequence AnalysisAdd
    BLAST
    Topological domaini324 – 38461CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei35 – 5521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei178 – 19821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei205 – 22521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei263 – 28321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei303 – 32321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini130 – 331202TLCPROSITE-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.
    KOiK04710.
    OMAiCIFMIRL.
    OrthoDBiEOG7CZK7X.
    PhylomeDBiQ6ZMG9.
    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: Q6ZMG9-1) [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

    MAGILAWFWN ERFWLPHNVT WADLKNTEEA TFPQAEDLYL AFPLAFCIFM    50
    VRLIFERFVA KPCAIALNIQ ANGPQIAPPN AILEKVFTAI TKHPDEKRLE 100
    GLSKQLDWDV RSIQRWFRQR RNQEKPSTLT RFCESMWRFS FYLYVFTYGV 150
    RFLKKTPWLW NTRHCWYNYP YQPLTTDLHY YYILELSFYW SLMFSQFTDI 200
    KRKDFGIMFL HHLVSIFLIT FSYVNNMARV GTLVLCLHDS ADALLEAAKM 250
    ANYAKFQKMC DLLFVMFAVV FITTRLGIFP LWVLNTTLFE SWEIVGPYPS 300
    WWVFNLLLLL VQGLNCFWSY LIVKIACKAV SRGKVSKDDR SDIESSSDEE 350
    DSEPPGKNPH TATTTNGTSG TNGYLLTGSC SMDD 384
    Length:384
    Mass (Da):44,890
    Last modified:July 5, 2004 - v1
    Checksum:iB3C400D6317D9E5E
    GO
    Isoform 2 (identifier: Q6ZMG9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         334-334: K → KAGKWNPLH

    Show »
    Length:392
    Mass (Da):45,794
    Checksum:i8977CEFEEA561DE4
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei334 – 3341K → KAGKWNPLH in isoform 2. 1 PublicationVSP_045162

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK172775 mRNA. Translation: BAD18757.1.
    AC009475 Genomic DNA. No translation available.
    AC019086 Genomic DNA. No translation available.
    AC097453 Genomic DNA. No translation available.
    BC109284 mRNA. Translation: AAI09285.1.
    BC109285 mRNA. Translation: AAI09286.1.
    BC030800 mRNA. Translation: AAH30800.2. Sequence problems.
    CCDSiCCDS2228.1. [Q6ZMG9-1]
    CCDS58734.1. [Q6ZMG9-2]
    RefSeqiNP_001243055.1. NM_001256126.1. [Q6ZMG9-2]
    NP_982288.1. NM_203463.2. [Q6ZMG9-1]
    UniGeneiHs.506829.
    Hs.743222.

    Genome annotation databases

    EnsembliENST00000305747; ENSP00000306579; ENSG00000172292. [Q6ZMG9-1]
    ENST00000392687; ENSP00000376453; ENSG00000172292. [Q6ZMG9-2]
    GeneIDi253782.
    KEGGihsa:253782.
    UCSCiuc002ueb.2. human. [Q6ZMG9-1]
    uc002uec.2. human.

    Polymorphism databases

    DMDMi51316251.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK172775 mRNA. Translation: BAD18757.1 .
    AC009475 Genomic DNA. No translation available.
    AC019086 Genomic DNA. No translation available.
    AC097453 Genomic DNA. No translation available.
    BC109284 mRNA. Translation: AAI09285.1 .
    BC109285 mRNA. Translation: AAI09286.1 .
    BC030800 mRNA. Translation: AAH30800.2 . Sequence problems.
    CCDSi CCDS2228.1. [Q6ZMG9-1 ]
    CCDS58734.1. [Q6ZMG9-2 ]
    RefSeqi NP_001243055.1. NM_001256126.1. [Q6ZMG9-2 ]
    NP_982288.1. NM_203463.2. [Q6ZMG9-1 ]
    UniGenei Hs.506829.
    Hs.743222.

    3D structure databases

    ProteinModelPortali Q6ZMG9.
    SMRi Q6ZMG9. Positions 77-127.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 128987. 2 interactions.
    STRINGi 9606.ENSP00000306579.

    PTM databases

    PhosphoSitei Q6ZMG9.

    Polymorphism databases

    DMDMi 51316251.

    Proteomic databases

    MaxQBi Q6ZMG9.
    PaxDbi Q6ZMG9.
    PRIDEi Q6ZMG9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000305747 ; ENSP00000306579 ; ENSG00000172292 . [Q6ZMG9-1 ]
    ENST00000392687 ; ENSP00000376453 ; ENSG00000172292 . [Q6ZMG9-2 ]
    GeneIDi 253782.
    KEGGi hsa:253782.
    UCSCi uc002ueb.2. human. [Q6ZMG9-1 ]
    uc002uec.2. human.

    Organism-specific databases

    CTDi 253782.
    GeneCardsi GC02P169313.
    HGNCi HGNC:23826. CERS6.
    HPAi HPA044683.
    MIMi 615336. gene.
    neXtProti NX_Q6ZMG9.
    PharmGKBi PA134925480.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5058.
    HOVERGENi HBG052310.
    KOi K04710.
    OMAi CIFMIRL.
    OrthoDBi EOG7CZK7X.
    PhylomeDBi Q6ZMG9.
    TreeFami TF314319.

    Enzyme and pathway databases

    Reactomei REACT_115810. Sphingolipid de novo biosynthesis.

    Miscellaneous databases

    ChiTaRSi CERS6. human.
    GenomeRNAii 253782.
    NextBioi 92167.
    PROi Q6ZMG9.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q6ZMG9.
    CleanExi HS_LASS6.
    Genevestigatori Q6ZMG9.

    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 1).
      Tissue: Colon mucosa.
    2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 191-384 (ISOFORM 1).
      Tissue: Duodenum.
    4. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-18.
      Tissue: Liver.

    Entry informationi

    Entry nameiCERS6_HUMAN
    AccessioniPrimary (citable) accession number: Q6ZMG9
    Secondary accession number(s): Q32M63, Q8N617
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 16, 2004
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 106 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 2
      Human chromosome 2: 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