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Q9HA82

- CERS4_HUMAN

UniProt

Q9HA82 - CERS4_HUMAN

Protein

Ceramide synthase 4

Gene

CERS4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      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 different fatty acid donors (N-linked stearoyl- (C18) or arachidoyl- (C20) ceramides) in a fumonisin B1-independent manner By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi67 – 12862HomeoboxPROSITE-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 4
    Short name:
    CerS4
    Alternative name(s):
    LAG1 longevity assurance homolog 4
    Gene namesi
    Name:CERS4
    Synonyms:LASS4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:23747. CERS4.

    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

    PharmGKBiPA134915173.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 394394Ceramide synthase 4PRO_0000185512Add
    BLAST

    Proteomic databases

    MaxQBiQ9HA82.
    PaxDbiQ9HA82.
    PRIDEiQ9HA82.

    PTM databases

    PhosphoSiteiQ9HA82.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9HA82.
    BgeeiQ9HA82.
    CleanExiHS_LASS4.
    GenevestigatoriQ9HA82.

    Organism-specific databases

    HPAiCAB033734.

    Interactioni

    Protein-protein interaction databases

    IntActiQ9HA82. 1 interaction.
    MINTiMINT-4650665.
    STRINGi9606.ENSP00000251363.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HA82.
    SMRiQ9HA82. Positions 70-127.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei32 – 5221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei140 – 16021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei179 – 19921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei209 – 22921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei260 – 28021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei304 – 32421HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini131 – 332202TLCPROSITE-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.
    HOGENOMiHOG000231977.
    HOVERGENiHBG052310.
    InParanoidiQ9HA82.
    KOiK04710.
    OMAiLYWWYLL.
    PhylomeDBiQ9HA82.
    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.

    Q9HA82-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLSSFNEWFW QDRFWLPPNV TWTELEDRDG RVYPHPQDLL AALPLALVLL    50
    AMRLAFERFI GLPLSRWLGV RDQTRRQVKP NATLEKHFLT EGHRPKEPQL 100
    SLLAAQCGLT LQQTQRWFRR RRNQDRPQLT KKFCEASWRF LFYLSSFVGG 150
    LSVLYHESWL WAPVMCWDRY PNQTLKPSLY WWYLLELGFY LSLLIRLPFD 200
    VKRKDFKEQV IHHFVAVILM TFSYSANLLR IGSLVLLLHD SSDYLLEACK 250
    MVNYMQYQQV CDALFLIFSF VFFYTRLVLF PTQILYTTYY ESISNRGPFF 300
    GYYFFNGLLM LLQLLHVFWS CLILRMLYSF MKKGQMEKDI RSDVEESDSS 350
    EEAAAAQEPL QLKNGAAGGP RPAPTDGPRS RVAGRLTNRH TTAT 394
    Length:394
    Mass (Da):46,399
    Last modified:May 18, 2010 - v2
    Checksum:iDAA12AA386ED2802
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti119 – 1191R → Q.
    Corresponds to variant rs17159388 [ dbSNP | Ensembl ].
    VAR_034065
    Natural varianti301 – 3011G → S.
    Corresponds to variant rs2288413 [ dbSNP | Ensembl ].
    VAR_019556
    Natural varianti353 – 3531A → V.2 Publications
    Corresponds to variant rs17160348 [ dbSNP | Ensembl ].
    VAR_060263
    Natural varianti366 – 3661A → T.1 Publication
    Corresponds to variant rs36259 [ dbSNP | Ensembl ].
    VAR_019557
    Natural varianti379 – 3791R → Q.2 Publications
    Corresponds to variant rs17160349 [ dbSNP | Ensembl ].
    VAR_060264

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK022151 mRNA. Translation: BAB13972.1.
    AC022146 Genomic DNA. No translation available.
    CH471139 Genomic DNA. Translation: EAW68940.1.
    CH471139 Genomic DNA. Translation: EAW68941.1.
    CH471139 Genomic DNA. Translation: EAW68942.1.
    CH471139 Genomic DNA. Translation: EAW68945.1.
    BC009828 mRNA. Translation: AAH09828.1.
    CCDSiCCDS12197.1.
    RefSeqiNP_078828.2. NM_024552.2.
    XP_006722959.1. XM_006722896.1.
    UniGeneiHs.515111.

    Genome annotation databases

    EnsembliENST00000251363; ENSP00000251363; ENSG00000090661.
    ENST00000559450; ENSP00000453509; ENSG00000090661.
    GeneIDi79603.
    KEGGihsa:79603.
    UCSCiuc002mjg.3. human.

    Polymorphism databases

    DMDMi296434561.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK022151 mRNA. Translation: BAB13972.1 .
    AC022146 Genomic DNA. No translation available.
    CH471139 Genomic DNA. Translation: EAW68940.1 .
    CH471139 Genomic DNA. Translation: EAW68941.1 .
    CH471139 Genomic DNA. Translation: EAW68942.1 .
    CH471139 Genomic DNA. Translation: EAW68945.1 .
    BC009828 mRNA. Translation: AAH09828.1 .
    CCDSi CCDS12197.1.
    RefSeqi NP_078828.2. NM_024552.2.
    XP_006722959.1. XM_006722896.1.
    UniGenei Hs.515111.

    3D structure databases

    ProteinModelPortali Q9HA82.
    SMRi Q9HA82. Positions 70-127.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q9HA82. 1 interaction.
    MINTi MINT-4650665.
    STRINGi 9606.ENSP00000251363.

    PTM databases

    PhosphoSitei Q9HA82.

    Polymorphism databases

    DMDMi 296434561.

    Proteomic databases

    MaxQBi Q9HA82.
    PaxDbi Q9HA82.
    PRIDEi Q9HA82.

    Protocols and materials databases

    DNASUi 79603.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000251363 ; ENSP00000251363 ; ENSG00000090661 .
    ENST00000559450 ; ENSP00000453509 ; ENSG00000090661 .
    GeneIDi 79603.
    KEGGi hsa:79603.
    UCSCi uc002mjg.3. human.

    Organism-specific databases

    CTDi 79603.
    GeneCardsi GC19P008276.
    HGNCi HGNC:23747. CERS4.
    HPAi CAB033734.
    MIMi 615334. gene.
    neXtProti NX_Q9HA82.
    PharmGKBi PA134915173.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5058.
    HOGENOMi HOG000231977.
    HOVERGENi HBG052310.
    InParanoidi Q9HA82.
    KOi K04710.
    OMAi LYWWYLL.
    PhylomeDBi Q9HA82.
    TreeFami TF314319.

    Enzyme and pathway databases

    Reactomei REACT_115810. Sphingolipid de novo biosynthesis.

    Miscellaneous databases

    GenomeRNAii 79603.
    NextBioi 68638.
    PROi Q9HA82.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9HA82.
    Bgeei Q9HA82.
    CleanExi HS_LASS4.
    Genevestigatori Q9HA82.

    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], VARIANTS VAL-353 AND GLN-379.
      Tissue: Embryo.
    2. "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].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT THR-366.
    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], VARIANTS VAL-353 AND GLN-379.
      Tissue: Lung.

    Entry informationi

    Entry nameiCERS4_HUMAN
    AccessioniPrimary (citable) accession number: Q9HA82
    Secondary accession number(s): D6W665
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 16, 2004
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 117 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 19
      Human chromosome 19: 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