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Q9NS00

- C1GLT_HUMAN

UniProt

Q9NS00 - C1GLT_HUMAN

Protein

Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1

Gene

C1GALT1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 94 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    Glycosyltransferase that generates the core 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Plays a central role in many processes, such as angiogenesis, thrombopoiesis and kidney homeostasis development.

    Catalytic activityi

    UDP-alpha-D-galactose + glycoprotein N-acetyl-D-galactosamine = UDP + glycoprotein D-galactosyl-(1->3)-N-acetyl-D-galactosamine.1 Publication

    Cofactori

    Magnesium.By similarity

    Pathwayi

    GO - Molecular functioni

    1. glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity Source: UniProtKB
    2. metal ion binding Source: UniProtKB-KW
    3. protein binding Source: IntAct

    GO - Biological processi

    1. angiogenesis Source: UniProtKB
    2. cell differentiation Source: UniProtKB-KW
    3. cellular protein metabolic process Source: Reactome
    4. kidney development Source: UniProtKB
    5. O-glycan processing Source: Reactome
    6. post-translational protein modification Source: Reactome

    Keywords - Molecular functioni

    Developmental protein, Glycosyltransferase, Transferase

    Keywords - Biological processi

    Angiogenesis, Differentiation

    Keywords - Ligandi

    Magnesium, Metal-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS02901-MONOMER.
    BRENDAi2.4.1.122. 2681.
    ReactomeiREACT_115606. O-linked glycosylation of mucins.
    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiGT31. Glycosyltransferase Family 31.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 (EC:2.4.1.122)
    Alternative name(s):
    B3Gal-T8
    Core 1 O-glycan T-synthase
    Core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1
    Short name:
    Beta-1,3-galactosyltransferase
    Core 1 beta1,3-galactosyltransferase 1
    Short name:
    C1GalT1
    Short name:
    Core 1 beta3-Gal-T1
    Gene namesi
    Name:C1GALT1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:24337. C1GALT1.

    Subcellular locationi

    Membrane By similarity; Single-pass type II membrane protein By similarity

    GO - Cellular componenti

    1. Golgi membrane Source: Reactome
    2. integral component of membrane Source: UniProtKB

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134971259.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 363362Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1PRO_0000285064Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei235 – 2351PhosphoserineBy similarity

    Keywords - PTMi

    Disulfide bond, Phosphoprotein

    Proteomic databases

    MaxQBiQ9NS00.
    PaxDbiQ9NS00.
    PeptideAtlasiQ9NS00.
    PRIDEiQ9NS00.

    PTM databases

    PhosphoSiteiQ9NS00.

    Expressioni

    Tissue specificityi

    Widely expressed. Highly expressed in kidney, heart, placenta and liver.1 Publication

    Gene expression databases

    ArrayExpressiQ9NS00.
    BgeeiQ9NS00.
    CleanExiHS_C1GALT1.
    GenevestigatoriQ9NS00.

    Organism-specific databases

    HPAiHPA011294.
    HPA012819.

    Interactioni

    Subunit structurei

    Homodimer; disulfide-linked By similarity. Interacts with the C1GALT1C1 chaperone; required for galactosyltransferase activity.By similarity1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    C1GALT1C1Q96EU74EBI-8628584,EBI-2837343

    Protein-protein interaction databases

    BioGridi121241. 3 interactions.
    IntActiQ9NS00. 1 interaction.
    MINTiMINT-2819104.
    STRINGi9606.ENSP00000223122.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NS00.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini2 – 65CytoplasmicSequence Analysis
    Topological domaini30 – 363334LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei7 – 2923Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG254346.
    HOGENOMiHOG000021316.
    HOVERGENiHBG097900.
    InParanoidiQ9NS00.
    KOiK00731.
    OMAiCMEIINV.
    PhylomeDBiQ9NS00.
    TreeFamiTF317293.

    Family and domain databases

    InterProiIPR026842. C1GALT1.
    IPR003378. Fringe-like.
    [Graphical view]
    PANTHERiPTHR23033:SF13. PTHR23033:SF13. 1 hit.
    PfamiPF02434. Fringe. 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: Q9NS00-1) [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

    MASKSWLNFL TFLCGSAIGF LLCSQLFSIL LGEKVDTQPN VLHNDPHARH    50
    SDDNGQNHLE GQMNFNADSS QHKDENTDIA ENLYQKVRIL CWVMTGPQNL 100
    EKKAKHVKAT WAQRCNKVLF MSSEENKDFP AVGLKTKEGR DQLYWKTIKA 150
    FQYVHEHYLE DADWFLKADD DTYVILDNLR WLLSKYDPEE PIYFGRRFKP 200
    YVKQGYMSGG AGYVLSKEAL KRFVDAFKTD KCTHSSSIED LALGRCMEIM 250
    NVEAGDSRDT IGKETFHPFV PEHHLIKGYL PRTFWYWNYN YYPPVEGPGC 300
    CSDLAVSFHY VDSTTMYELE YLVYHLRPYG YLYRYQPTLP ERILKEISQA 350
    NKNEDTKVKL GNP 363
    Length:363
    Mass (Da):42,203
    Last modified:October 1, 2000 - v1
    Checksum:i01F472B55C5F526F
    GO
    Isoform 2 (identifier: Q9NS00-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         297-363: GPGCCSDLAV...EDTKVKLGNP → VSLEILLLCQYLD

    Note: No experimental confirmation available.

    Show »
    Length:309
    Mass (Da):35,935
    Checksum:i8FF6B139ED96421D
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei297 – 36367GPGCC…KLGNP → VSLEILLLCQYLD in isoform 2. 1 PublicationVSP_024809Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF155582 mRNA. Translation: AAF81981.1.
    AJ132443 mRNA. Translation: CAC45046.1.
    AJ278960 mRNA. Translation: CAC82373.1.
    AJ243256 mRNA. Translation: CAC80435.1.
    AC005532 Genomic DNA. Translation: AAQ96887.1.
    CH236948 Genomic DNA. Translation: EAL24308.1.
    BC003174 mRNA. Translation: AAH03174.1.
    CCDSiCCDS5355.1. [Q9NS00-1]
    RefSeqiNP_064541.1. NM_020156.4. [Q9NS00-1]
    XP_005249870.1. XM_005249813.2. [Q9NS00-1]
    XP_006715822.1. XM_006715759.1. [Q9NS00-1]
    UniGeneiHs.239666.

    Genome annotation databases

    EnsembliENST00000223122; ENSP00000223122; ENSG00000106392. [Q9NS00-1]
    ENST00000402468; ENSP00000384550; ENSG00000106392. [Q9NS00-2]
    ENST00000436587; ENSP00000389176; ENSG00000106392. [Q9NS00-1]
    GeneIDi56913.
    KEGGihsa:56913.
    UCSCiuc003sra.4. human. [Q9NS00-1]
    uc010kto.2. human. [Q9NS00-2]

    Polymorphism databases

    DMDMi74719147.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    Functional Glycomics Gateway - GTase

    Core1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF155582 mRNA. Translation: AAF81981.1 .
    AJ132443 mRNA. Translation: CAC45046.1 .
    AJ278960 mRNA. Translation: CAC82373.1 .
    AJ243256 mRNA. Translation: CAC80435.1 .
    AC005532 Genomic DNA. Translation: AAQ96887.1 .
    CH236948 Genomic DNA. Translation: EAL24308.1 .
    BC003174 mRNA. Translation: AAH03174.1 .
    CCDSi CCDS5355.1. [Q9NS00-1 ]
    RefSeqi NP_064541.1. NM_020156.4. [Q9NS00-1 ]
    XP_005249870.1. XM_005249813.2. [Q9NS00-1 ]
    XP_006715822.1. XM_006715759.1. [Q9NS00-1 ]
    UniGenei Hs.239666.

    3D structure databases

    ProteinModelPortali Q9NS00.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121241. 3 interactions.
    IntActi Q9NS00. 1 interaction.
    MINTi MINT-2819104.
    STRINGi 9606.ENSP00000223122.

    Chemistry

    ChEMBLi CHEMBL2321633.

    Protein family/group databases

    CAZyi GT31. Glycosyltransferase Family 31.

    PTM databases

    PhosphoSitei Q9NS00.

    Polymorphism databases

    DMDMi 74719147.

    Proteomic databases

    MaxQBi Q9NS00.
    PaxDbi Q9NS00.
    PeptideAtlasi Q9NS00.
    PRIDEi Q9NS00.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000223122 ; ENSP00000223122 ; ENSG00000106392 . [Q9NS00-1 ]
    ENST00000402468 ; ENSP00000384550 ; ENSG00000106392 . [Q9NS00-2 ]
    ENST00000436587 ; ENSP00000389176 ; ENSG00000106392 . [Q9NS00-1 ]
    GeneIDi 56913.
    KEGGi hsa:56913.
    UCSCi uc003sra.4. human. [Q9NS00-1 ]
    uc010kto.2. human. [Q9NS00-2 ]

    Organism-specific databases

    CTDi 56913.
    GeneCardsi GC07P007196.
    HGNCi HGNC:24337. C1GALT1.
    HPAi HPA011294.
    HPA012819.
    MIMi 610555. gene.
    neXtProti NX_Q9NS00.
    PharmGKBi PA134971259.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG254346.
    HOGENOMi HOG000021316.
    HOVERGENi HBG097900.
    InParanoidi Q9NS00.
    KOi K00731.
    OMAi CMEIINV.
    PhylomeDBi Q9NS00.
    TreeFami TF317293.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    BioCyci MetaCyc:HS02901-MONOMER.
    BRENDAi 2.4.1.122. 2681.
    Reactomei REACT_115606. O-linked glycosylation of mucins.

    Miscellaneous databases

    GenomeRNAii 56913.
    NextBioi 62395.
    PROi Q9NS00.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NS00.
    Bgeei Q9NS00.
    CleanExi HS_C1GALT1.
    Genevestigatori Q9NS00.

    Family and domain databases

    InterProi IPR026842. C1GALT1.
    IPR003378. Fringe-like.
    [Graphical view ]
    PANTHERi PTHR23033:SF13. PTHR23033:SF13. 1 hit.
    Pfami PF02434. Fringe. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and expression of human core 1 beta1,3-galactosyltransferase."
      Ju T., Brewer K., D'Souza A., Cummings R.D., Canfield W.M.
      J. Biol. Chem. 277:178-186(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME ACTIVITY, TISSUE SPECIFICITY.
    2. "Cloning and expression of a novel beta-1,3-galactosyltransferase."
      Jensen M.P.A.
      Submitted (JUN-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
    3. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] OF 79-363 (ISOFORM 1).
      Tissue: Kidney.
    6. "A unique molecular chaperone Cosmc required for activity of the mammalian core 1 beta 3-galactosyltransferase."
      Ju T., Cummings R.D.
      Proc. Natl. Acad. Sci. U.S.A. 99:16613-16618(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH C1GALT1C1.
    7. "Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy."
      Li G.-S., Zhang H., Lv J.-C., Shen Y., Wang H.-Y.
      Kidney Int. 71:448-453(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN IGA NEPHROPATHY.
    8. "Interaction between variants of two glycosyltransferase genes in IgA nephropathy."
      Zhu L., Tang W., Li G., Lv J., Ding J., Yu L., Zhao M., Li Y., Zhang X., Shen Y., Zhang H., Wang H.
      Kidney Int. 76:190-198(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN IGA NEPHROPATHY.

    Entry informationi

    Entry nameiC1GLT_HUMAN
    AccessioniPrimary (citable) accession number: Q9NS00
    Secondary accession number(s): Q96QH4, Q9BTU1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 15, 2007
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 94 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

    Aberrant O-galactosylation of IgA1 molecules plays a role in the development and progression of IgA nephropathy (IgAN). Genetic interactions of C1GALT1 and ST6GALNAC2 variants influence IgA1 O-glycosylation, disease predisposition, and disease severity, and may contribute to the polygenic nature of IgAN.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3