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Q16880

- CGT_HUMAN

UniProt

Q16880 - CGT_HUMAN

Protein

2-hydroxyacylsphingosine 1-beta-galactosyltransferase

Gene

UGT8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 110 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    Functioni

    Catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central nervous system and peripheral nervous system.

    Catalytic activityi

    UDP-alpha-D-galactose + 2-(2-hydroxyacyl)sphingosine = UDP + 1-(beta-D-galactosyl)-2-(2-hydroxyacyl)sphingosine.

    Pathwayi

    GO - Molecular functioni

    1. 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity Source: UniProtKB-EC
    2. UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity Source: ProtInc

    GO - Biological processi

    1. axon cargo transport Source: Ensembl
    2. central nervous system development Source: ProtInc
    3. cytoskeleton organization Source: Ensembl
    4. galactosylceramide biosynthetic process Source: UniProtKB-UniPathway
    5. neuron projection morphogenesis Source: Ensembl
    6. paranodal junction assembly Source: Ensembl
    7. peripheral nervous system development Source: ProtInc
    8. protein localization to paranode region of axon Source: Ensembl

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Keywords - Biological processi

    Lipid metabolism, Sphingolipid metabolism

    Enzyme and pathway databases

    UniPathwayiUPA00787.

    Protein family/group databases

    CAZyiGT1. Glycosyltransferase Family 1.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    2-hydroxyacylsphingosine 1-beta-galactosyltransferase (EC:2.4.1.45)
    Alternative name(s):
    Ceramide UDP-galactosyltransferase
    Cerebroside synthase
    UDP-galactose-ceramide galactosyltransferase
    Gene namesi
    Name:UGT8
    Synonyms:CGT, UGT4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:12555. UGT8.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA37195.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2020Sequence AnalysisAdd
    BLAST
    Chaini21 – 5415212-hydroxyacylsphingosine 1-beta-galactosyltransferasePRO_0000036064Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi78 – 781N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi333 – 3331N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi442 – 4421N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ16880.
    PaxDbiQ16880.
    PRIDEiQ16880.

    PTM databases

    PhosphoSiteiQ16880.

    Expressioni

    Gene expression databases

    ArrayExpressiQ16880.
    BgeeiQ16880.
    CleanExiHS_UGT8.
    GenevestigatoriQ16880.

    Organism-specific databases

    HPAiHPA014405.

    Interactioni

    Protein-protein interaction databases

    BioGridi113215. 1 interaction.
    MINTiMINT-6630487.
    STRINGi9606.ENSP00000311648.

    Structurei

    3D structure databases

    ProteinModelPortaliQ16880.
    SMRiQ16880. Positions 269-430.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei472 – 49221HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the UDP-glycosyltransferase family.Curated

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1819.
    HOGENOMiHOG000220831.
    HOVERGENiHBG098341.
    InParanoidiQ16880.
    KOiK04628.
    OMAiSNHYSLQ.
    OrthoDBiEOG7GBFWS.
    PhylomeDBiQ16880.
    TreeFamiTF315472.

    Family and domain databases

    InterProiIPR002213. UDP_glucos_trans.
    [Graphical view]
    PANTHERiPTHR11926. PTHR11926. 1 hit.
    PfamiPF00201. UDPGT. 1 hit.
    [Graphical view]
    PROSITEiPS00375. UDPGT. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q16880-1 [UniParc]FASTAAdd to Basket

    « Hide

    MKSYTPYFIL LWSAVGIAKA AKIIIVPPIM FESHMYIFKT LASALHERGH    50
    HTVFLLSEGR DIAPSNHYSL QRYPGIFNST TSDAFLQSKM RNIFSGRLTA 100
    IELFDILDHY TKNCDLMVGN HALIQGLKKE KFDLLLVDPN DMCGFVIAHL 150
    LGVKYAVFST GLWYPAEVGA PAPLAYVPEF NSLLTDRMNL LQRMKNTGVY 200
    LISRLGVSFL VLPKYERIMQ KYNLLPEKSM YDLVHGSSLW MLCTDVALEF 250
    PRPTLPNVVY VGGILTKPAS PLPEDLQRWV NGANEHGFVL VSFGAGVKYL 300
    SEDIANKLAG ALGRLPQKVI WRFSGPKPKN LGNNTKLIEW LPQNDLLGHS 350
    KIKAFLSHGG LNSIFETIYH GVPVVGIPLF GDHYDTMTRV QAKGMGILLE 400
    WKTVTEKELY EALVKVINNP SYRQRAQKLS EIHKDQPGHP VNRTIYWIDY 450
    IIRHNGAHHL RAAVHQISFC QYFLLDIAFV LLLGAALLYF LLSWVTKFIY 500
    RKIKSLWSRN KHSTVNGHYH NGILNGKYKR NGHIKHEKKV K 541
    Length:541
    Mass (Da):61,438
    Last modified:May 18, 2010 - v2
    Checksum:i02FA965FEC8EB788
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti99 – 991T → P in AAC51187. (PubMed:9125199)Curated
    Sequence conflicti116 – 1161L → M in AAC51187. (PubMed:9125199)Curated
    Sequence conflicti356 – 3561L → V in AAC51187. (PubMed:9125199)Curated
    Sequence conflicti379 – 3791L → V in AAC51187. (PubMed:9125199)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti226 – 2261P → L.
    Corresponds to variant rs4148254 [ dbSNP | Ensembl ].
    VAR_052466
    Natural varianti368 – 3681I → M.5 Publications
    Corresponds to variant rs11098261 [ dbSNP | Ensembl ].
    VAR_052467

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U30930 mRNA. Translation: AAC50565.1.
    U32370
    , U31353, U31461, U31658, U31861 Genomic DNA. Translation: AAC50815.1.
    U62899 mRNA. Translation: AAC51187.1.
    AK127970 mRNA. Translation: BAG54609.1.
    AC122938 Genomic DNA. No translation available.
    CH471057 Genomic DNA. Translation: EAX06307.1.
    BC075069 mRNA. Translation: AAH75069.1.
    CCDSiCCDS3705.1.
    PIRiJC5423.
    RefSeqiNP_001121646.1. NM_001128174.1.
    NP_003351.2. NM_003360.3.
    XP_006714365.1. XM_006714302.1.
    XP_006714366.1. XM_006714303.1.
    UniGeneiHs.144197.

    Genome annotation databases

    EnsembliENST00000310836; ENSP00000311648; ENSG00000174607.
    ENST00000394511; ENSP00000378019; ENSG00000174607.
    GeneIDi7368.
    KEGGihsa:7368.
    UCSCiuc003ibs.2. human.

    Polymorphism databases

    DMDMi296434442.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Functional Glycomics Gateway - GTase

    2-hydroxyacylsphingosine 1-beta-galactosyltransferase precursor

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U30930 mRNA. Translation: AAC50565.1 .
    U32370
    , U31353 , U31461 , U31658 , U31861 Genomic DNA. Translation: AAC50815.1 .
    U62899 mRNA. Translation: AAC51187.1 .
    AK127970 mRNA. Translation: BAG54609.1 .
    AC122938 Genomic DNA. No translation available.
    CH471057 Genomic DNA. Translation: EAX06307.1 .
    BC075069 mRNA. Translation: AAH75069.1 .
    CCDSi CCDS3705.1.
    PIRi JC5423.
    RefSeqi NP_001121646.1. NM_001128174.1.
    NP_003351.2. NM_003360.3.
    XP_006714365.1. XM_006714302.1.
    XP_006714366.1. XM_006714303.1.
    UniGenei Hs.144197.

    3D structure databases

    ProteinModelPortali Q16880.
    SMRi Q16880. Positions 269-430.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113215. 1 interaction.
    MINTi MINT-6630487.
    STRINGi 9606.ENSP00000311648.

    Protein family/group databases

    CAZyi GT1. Glycosyltransferase Family 1.

    PTM databases

    PhosphoSitei Q16880.

    Polymorphism databases

    DMDMi 296434442.

    Proteomic databases

    MaxQBi Q16880.
    PaxDbi Q16880.
    PRIDEi Q16880.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000310836 ; ENSP00000311648 ; ENSG00000174607 .
    ENST00000394511 ; ENSP00000378019 ; ENSG00000174607 .
    GeneIDi 7368.
    KEGGi hsa:7368.
    UCSCi uc003ibs.2. human.

    Organism-specific databases

    CTDi 7368.
    GeneCardsi GC04P115519.
    HGNCi HGNC:12555. UGT8.
    HPAi HPA014405.
    MIMi 601291. gene.
    neXtProti NX_Q16880.
    PharmGKBi PA37195.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1819.
    HOGENOMi HOG000220831.
    HOVERGENi HBG098341.
    InParanoidi Q16880.
    KOi K04628.
    OMAi SNHYSLQ.
    OrthoDBi EOG7GBFWS.
    PhylomeDBi Q16880.
    TreeFami TF315472.

    Enzyme and pathway databases

    UniPathwayi UPA00787 .

    Miscellaneous databases

    GeneWikii UGT8.
    GenomeRNAii 7368.
    NextBioi 28852.
    PROi Q16880.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q16880.
    Bgeei Q16880.
    CleanExi HS_UGT8.
    Genevestigatori Q16880.

    Family and domain databases

    InterProi IPR002213. UDP_glucos_trans.
    [Graphical view ]
    PANTHERi PTHR11926. PTHR11926. 1 hit.
    Pfami PF00201. UDPGT. 1 hit.
    [Graphical view ]
    PROSITEi PS00375. UDPGT. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The human gene CGT encoding the UDP-galactose ceramide galactosyl transferase (cerebroside synthase): cloning, characterization, and assignment to human chromosome 4, band q26."
      Bosio A., Binczek E., Lebeau M.M., Fernald A.A., Stoffel W.
      Genomics 34:69-75(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT MET-368.
    2. "Cloning, characterization, and expression of human ceramide galactosyltransferase cDNA."
      Kapitonov D.E., Yu R.K.
      Biochem. Biophys. Res. Commun. 232:449-453(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT MET-368.
    3. "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], VARIANT MET-368.
      Tissue: Testis.
    4. "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].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT MET-368.
    6. "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 MET-368.
      Tissue: Brain.

    Entry informationi

    Entry nameiCGT_HUMAN
    AccessioniPrimary (citable) accession number: Q16880
    Secondary accession number(s): B3KXU7, O00196
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: May 18, 2010
    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 4
      Human chromosome 4: 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