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Q96EU7

- C1GLC_HUMAN

UniProt

Q96EU7 - C1GLC_HUMAN

Protein

C1GALT1-specific chaperone 1

Gene

C1GALT1C1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 104 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    Probable chaperone required for the generation of 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Probably acts as a specific molecular chaperone assisting the folding/stability of core 1 beta-3-galactosyltransferase (C1GALT1).1 Publication

    GO - Molecular functioni

    1. polypeptide N-acetylgalactosaminyltransferase activity Source: Reactome
    2. protein binding Source: IntAct

    GO - Biological processi

    1. cellular protein metabolic process Source: Reactome
    2. O-glycan processing Source: Reactome
    3. post-translational protein modification Source: Reactome
    4. protein O-linked glycosylation Source: MGI

    Keywords - Molecular functioni

    Chaperone

    Enzyme and pathway databases

    BRENDAi2.4.1.122. 2681.
    ReactomeiREACT_115606. O-linked glycosylation of mucins.

    Protein family/group databases

    CAZyiGT31. Glycosyltransferase Family 31.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    C1GALT1-specific chaperone 1
    Alternative name(s):
    C38H2-like protein 1
    Short name:
    C38H2-L1
    Core 1 beta1,3-galactosyltransferase 2
    Short name:
    C1Gal-T2
    Short name:
    C1GalT2
    Short name:
    Core 1 beta3-Gal-T2
    Core 1 beta3-galactosyltransferase-specific molecular chaperone
    Gene namesi
    Name:C1GALT1C1
    Synonyms:COSMC
    ORF Names:HSPC067, MSTP143, UNQ273/PRO310
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:24338. C1GALT1C1.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. Golgi membrane Source: Reactome
    3. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Tn polyagglutination syndrome (TNPS) [MIM:300622]: A clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia. However, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti152 – 1521E → K in TNPS; loss capacity to promote Tn synthase activity. 2 Publications
    Corresponds to variant rs137853599 [ dbSNP | Ensembl ].
    VAR_031911
    Natural varianti193 – 1931S → P in TNPS. 1 Publication
    VAR_069275

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi300622. phenotype.
    PharmGKBiPA134974626.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 318318C1GALT1-specific chaperone 1PRO_0000285074Add
    BLAST

    Proteomic databases

    MaxQBiQ96EU7.
    PaxDbiQ96EU7.
    PRIDEiQ96EU7.

    PTM databases

    PhosphoSiteiQ96EU7.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed. Abundantly expressed in salivary gland, stomach, small intestine, kidney, and testis and at intermediate levels in whole brain, cerebellum, spinal cord, thymus, spleen, trachea, lung, pancreas, ovary, and uterus.1 Publication

    Gene expression databases

    BgeeiQ96EU7.
    CleanExiHS_C1GALT1C1.
    GenevestigatoriQ96EU7.

    Organism-specific databases

    HPAiHPA015632.

    Interactioni

    Subunit structurei

    Associates with core 1 beta-3-galactosyltransferase (C1GALT1), probably not with the soluble active form.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    C1GALT1Q9NS004EBI-2837343,EBI-8628584

    Protein-protein interaction databases

    BioGridi118844. 4 interactions.
    IntActiQ96EU7. 2 interactions.
    MINTiMINT-8177836.
    STRINGi9606.ENSP00000304364.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96EU7.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 66CytoplasmicSequence Analysis
    Topological domaini27 – 318292LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei7 – 2620Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG254346.
    HOGENOMiHOG000013033.
    HOVERGENiHBG059493.
    InParanoidiQ96EU7.
    KOiK09653.
    OMAiCLKYTGV.
    OrthoDBiEOG7ZGX3B.
    PhylomeDBiQ96EU7.
    TreeFamiTF317293.

    Family and domain databases

    InterProiIPR026731. C1GALT1C1.
    [Graphical view]
    PANTHERiPTHR23033:SF2. PTHR23033:SF2. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q96EU7-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLSESSSFLK GVMLGSIFCA LITMLGHIRI GHGNRMHHHE HHHLQAPNKE    50
    DILKISEDER MELSKSFRVY CIILVKPKDV SLWAAVKETW TKHCDKAEFF 100
    SSENVKVFES INMDTNDMWL MMRKAYKYAF DKYRDQYNWF FLARPTTFAI 150
    IENLKYFLLK KDPSQPFYLG HTIKSGDLEY VGMEGGIVLS VESMKRLNSL 200
    LNIPEKCPEQ GGMIWKISED KQLAVCLKYA GVFAENAEDA DGKDVFNTKS 250
    VGLSIKEAMT YHPNQVVEGC CSDMAVTFNG LTPNQMHVMM YGVYRLRAFG 300
    HIFNDALVFL PPNGSDND 318
    Length:318
    Mass (Da):36,382
    Last modified:December 1, 2001 - v1
    Checksum:i5D766966A872CA84
    GO

    Sequence cautioni

    The sequence AAF29039.1 differs from that shown. Reason: Frameshift at positions 16, 22, 24 and 25.
    The sequence CAC80277.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti76 – 761K → E in CAC80277. 1 PublicationCurated
    Sequence conflicti107 – 1071V → E in AAF29039. (PubMed:11042152)Curated
    Sequence conflicti108 – 1081F → L in CAC80277. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti131 – 1311D → E Common polymorphism; retains capacity to promote Tn synthase activity. 2 Publications
    Corresponds to variant rs17261572 [ dbSNP | Ensembl ].
    VAR_031910
    Natural varianti143 – 1431A → V.1 Publication
    Corresponds to variant rs45557031 [ dbSNP | Ensembl ].
    VAR_069274
    Natural varianti152 – 1521E → K in TNPS; loss capacity to promote Tn synthase activity. 2 Publications
    Corresponds to variant rs137853599 [ dbSNP | Ensembl ].
    VAR_031911
    Natural varianti193 – 1931S → P in TNPS. 1 Publication
    VAR_069275
    Natural varianti222 – 2221Q → H.1 Publication
    Corresponds to variant rs200973382 [ dbSNP | Ensembl ].
    VAR_069276

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB084170 mRNA. Translation: BAC41493.1.
    AY159319 mRNA. Translation: AAN78129.1.
    AJ238398 mRNA. Translation: CAC80277.1. Different initiation.
    AF161552 mRNA. Translation: AAF29039.1. Frameshift.
    AF177284 mRNA. Translation: AAQ13670.1.
    AY358642 mRNA. Translation: AAQ89005.1.
    AC011890 Genomic DNA. No translation available.
    AK290111 mRNA. Translation: BAF82800.1.
    CH471107 Genomic DNA. Translation: EAX11873.1.
    BC011930 mRNA. Translation: AAH11930.1.
    BC050441 mRNA. Translation: AAH50441.1.
    CCDSiCCDS14602.1.
    RefSeqiNP_001011551.1. NM_001011551.2.
    NP_689905.1. NM_152692.4.
    UniGeneiHs.643920.

    Genome annotation databases

    EnsembliENST00000304661; ENSP00000304364; ENSG00000171155.
    ENST00000371313; ENSP00000360363; ENSG00000171155.
    GeneIDi29071.
    KEGGihsa:29071.
    UCSCiuc004esy.3. human.

    Polymorphism databases

    DMDMi74751849.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Functional Glycomics Gateway - GTase

    C1GALT1-specific chaperone 1

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB084170 mRNA. Translation: BAC41493.1 .
    AY159319 mRNA. Translation: AAN78129.1 .
    AJ238398 mRNA. Translation: CAC80277.1 . Different initiation.
    AF161552 mRNA. Translation: AAF29039.1 . Frameshift.
    AF177284 mRNA. Translation: AAQ13670.1 .
    AY358642 mRNA. Translation: AAQ89005.1 .
    AC011890 Genomic DNA. No translation available.
    AK290111 mRNA. Translation: BAF82800.1 .
    CH471107 Genomic DNA. Translation: EAX11873.1 .
    BC011930 mRNA. Translation: AAH11930.1 .
    BC050441 mRNA. Translation: AAH50441.1 .
    CCDSi CCDS14602.1.
    RefSeqi NP_001011551.1. NM_001011551.2.
    NP_689905.1. NM_152692.4.
    UniGenei Hs.643920.

    3D structure databases

    ProteinModelPortali Q96EU7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118844. 4 interactions.
    IntActi Q96EU7. 2 interactions.
    MINTi MINT-8177836.
    STRINGi 9606.ENSP00000304364.

    Protein family/group databases

    CAZyi GT31. Glycosyltransferase Family 31.

    PTM databases

    PhosphoSitei Q96EU7.

    Polymorphism databases

    DMDMi 74751849.

    Proteomic databases

    MaxQBi Q96EU7.
    PaxDbi Q96EU7.
    PRIDEi Q96EU7.

    Protocols and materials databases

    DNASUi 29071.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000304661 ; ENSP00000304364 ; ENSG00000171155 .
    ENST00000371313 ; ENSP00000360363 ; ENSG00000171155 .
    GeneIDi 29071.
    KEGGi hsa:29071.
    UCSCi uc004esy.3. human.

    Organism-specific databases

    CTDi 29071.
    GeneCardsi GC0XM119759.
    HGNCi HGNC:24338. C1GALT1C1.
    HPAi HPA015632.
    MIMi 300611. gene.
    300622. phenotype.
    neXtProti NX_Q96EU7.
    PharmGKBi PA134974626.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG254346.
    HOGENOMi HOG000013033.
    HOVERGENi HBG059493.
    InParanoidi Q96EU7.
    KOi K09653.
    OMAi CLKYTGV.
    OrthoDBi EOG7ZGX3B.
    PhylomeDBi Q96EU7.
    TreeFami TF317293.

    Enzyme and pathway databases

    BRENDAi 2.4.1.122. 2681.
    Reactomei REACT_115606. O-linked glycosylation of mucins.

    Miscellaneous databases

    GenomeRNAii 29071.
    NextBioi 52025.
    PROi Q96EU7.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q96EU7.
    CleanExi HS_C1GALT1C1.
    Genevestigatori Q96EU7.

    Family and domain databases

    InterProi IPR026731. C1GALT1C1.
    [Graphical view ]
    PANTHERi PTHR23033:SF2. PTHR23033:SF2. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and characterization of a novel UDP-Gal:GalNAc(alpha) peptide beta 1,3-galactosyltransferase (C1Gal-T2), an enzyme synthesizing a core 1 structure of O-glycan."
      Kudo T., Iwai T., Kubota T., Iwasaki H., Takayma Y., Hiruma T., Inaba N., Zhang Y., Gotoh M., Togayachi A., Narimatsu H.
      J. Biol. Chem. 277:47724-47731(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    2. "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: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, INTERACTION WITH C1GALT1.
    3. "Identification and characterization of C38H2-L1."
      Rubboli F., Marchitiello A., Ballabio A., Banfi S.
      Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    4. "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
      Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X.
      , Gu J., Chen S.-J., Chen Z.
      Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Umbilical cord blood.
    5. Qin B.M., Sheng H., Liu B., Zhao B., Liu Y.Q., Wang X.Y., Zhang Q., Song L., Liu B.H., Lu H., Xu H.S., Zheng W.Y., Gong J., Hui R.T.
      Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Aorta.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    7. "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].
      Tissue: Thalamus.
    8. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    10. "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].
      Tissue: Eye and Ovary.
    11. "Protein glycosylation: chaperone mutation in Tn syndrome."
      Ju T., Cummings R.D.
      Nature 437:1252-1252(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT TNPS LYS-152, VARIANT GLU-131, CHARACTERIZATION OF VARIANT TNPS LYS-152, CHARACTERIZATION OF VARIANT GLU-131.
    12. "A mutant chaperone converts a wild-type protein into a tumor-specific antigen."
      Schietinger A., Philip M., Yoshida B.A., Azadi P., Liu H., Meredith S.C., Schreiber H.
      Science 314:304-308(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN PRODUCTION OF TUMOR-SPECIFIC ANTIGEN.
    13. "New mutations in C1GALT1C1 in individuals with Tn positive phenotype."
      Crew V.K., Singleton B.K., Green C., Parsons S.F., Daniels G., Anstee D.J.
      Br. J. Haematol. 142:657-667(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLU-131; VAL-143 AND HIS-222, VARIANTS TNPS LYS-152 AND PRO-193.

    Entry informationi

    Entry nameiC1GLC_HUMAN
    AccessioniPrimary (citable) accession number: Q96EU7
    Secondary accession number(s): A8K246, Q8WWS3, Q9NZX1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 1, 2007
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 104 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

    Defects in C1GALT1C1 in Ag104A cell line create a tumor-specific glycopeptidic neo-epitope. This epitope induces a high-affinity, highly specific, syngeneic monoclonal antibody. This is caused by the abolition of function of a glycosyltransferase, disrupting O-glycan Core 1 synthesis.

    Caution

    Was originally (PubMed:12361956) assigned to be a glycosyltransferase. However, it was later shown (PubMed:12464682 and PubMed:12464682) that it has no transferase activity and rather acts as a chaperone.1 Publication

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: 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

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