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Q96EU7

- C1GLC_HUMAN

UniProt

Q96EU7 - C1GLC_HUMAN

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Protein
C1GALT1-specific chaperone 1
Gene
C1GALT1C1, COSMC, HSPC067, MSTP143, UNQ273/PRO310
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

GO - Biological processi

  1. O-glycan processing Source: Reactome
  2. cellular protein metabolic process Source: Reactome
  3. post-translational protein modification Source: Reactome
Complete GO annotation...

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
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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 66Cytoplasmic Reviewed prediction
Transmembranei7 – 2620Helical; Signal-anchor for type II membrane protein; Reviewed prediction
Add
BLAST
Topological domaini27 – 318292Lumenal Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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 1
PRO_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.

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.

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 conflict

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

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...

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 103 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 (1 Publication) assigned to be a glycosyltransferase. However, it was later shown (1 Publication and 1 Publication) that it has no transferase activity and rather acts as a chaperone.

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

Dasty 3

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