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Q96EU7 (C1GLC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 102. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:C1GALT1C1
Synonyms:COSMC
ORF Names:HSPC067, MSTP143, UNQ273/PRO310
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length318 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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). Ref.3

Subunit structure

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

Subcellular location

Membrane; Single-pass type II membrane protein Potential.

Tissue specificity

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. Ref.1

Involvement in disease

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. Ref.12 Ref.14

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.

Sequence similarities

Belongs to the glycosyltransferase 31 family. Beta3-Gal-T subfamily.

Caution

Was originally (Ref.1) assigned to be a glycosyltransferase. However, it was later shown (Ref.2 and Ref.3) that it has no transferase activity and rather acts as a chaperone.

Sequence caution

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.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

C1GALT1Q9NS004EBI-2837343,EBI-8628584

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 318318C1GALT1-specific chaperone 1
PRO_0000285074

Regions

Topological domain1 – 66Cytoplasmic Potential
Transmembrane7 – 2620Helical; Signal-anchor for type II membrane protein; Potential
Topological domain27 – 318292Lumenal Potential

Natural variations

Natural variant1311D → E Common polymorphism; retains capacity to promote Tn synthase activity. Ref.12 Ref.14
Corresponds to variant rs17261572 [ dbSNP | Ensembl ].
VAR_031910
Natural variant1431A → V. Ref.14
Corresponds to variant rs45557031 [ dbSNP | Ensembl ].
VAR_069274
Natural variant1521E → K in TNPS; loss capacity to promote Tn synthase activity. Ref.12 Ref.14
Corresponds to variant rs137853599 [ dbSNP | Ensembl ].
VAR_031911
Natural variant1931S → P in TNPS. Ref.14
VAR_069275
Natural variant2221Q → H. Ref.14
Corresponds to variant rs200973382 [ dbSNP | Ensembl ].
VAR_069276

Experimental info

Sequence conflict761K → E in CAC80277. Ref.4
Sequence conflict1071V → E in AAF29039. Ref.5
Sequence conflict1081F → L in CAC80277. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q96EU7 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 5D766966A872CA84

FASTA31836,382
        10         20         30         40         50         60 
MLSESSSFLK GVMLGSIFCA LITMLGHIRI GHGNRMHHHE HHHLQAPNKE DILKISEDER 

        70         80         90        100        110        120 
MELSKSFRVY CIILVKPKDV SLWAAVKETW TKHCDKAEFF SSENVKVFES INMDTNDMWL 

       130        140        150        160        170        180 
MMRKAYKYAF DKYRDQYNWF FLARPTTFAI IENLKYFLLK KDPSQPFYLG HTIKSGDLEY 

       190        200        210        220        230        240 
VGMEGGIVLS VESMKRLNSL LNIPEKCPEQ GGMIWKISED KQLAVCLKYA GVFAENAEDA 

       250        260        270        280        290        300 
DGKDVFNTKS VGLSIKEAMT YHPNQVVEGC CSDMAVTFNG LTPNQMHVMM YGVYRLRAFG 

       310 
HIFNDALVFL PPNGSDND 

« Hide

References

« Hide 'large scale' references
[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]Erratum
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. 281:24999-24999(2006)
[3]"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.
[4]"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].
[5]"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. expand/collapse author list , 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.
[6]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.
[7]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[8]"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. expand/collapse author list , 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.
[9]"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. expand/collapse author list , 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].
[10]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[11]"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.
[12]"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.
[13]"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.
[14]"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.
+Additional computationally mapped references.

Web resources

Functional Glycomics Gateway - GTase

C1GALT1-specific chaperone 1

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS14602.1.
RefSeqNP_001011551.1. NM_001011551.2.
NP_689905.1. NM_152692.4.
UniGeneHs.643920.

3D structure databases

ProteinModelPortalQ96EU7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid118844. 4 interactions.
IntActQ96EU7. 2 interactions.
MINTMINT-8177836.
STRING9606.ENSP00000304364.

Protein family/group databases

CAZyGT31. Glycosyltransferase Family 31.

PTM databases

PhosphoSiteQ96EU7.

Polymorphism databases

DMDM74751849.

Proteomic databases

MaxQBQ96EU7.
PaxDbQ96EU7.
PRIDEQ96EU7.

Protocols and materials databases

DNASU29071.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000304661; ENSP00000304364; ENSG00000171155.
ENST00000371313; ENSP00000360363; ENSG00000171155.
GeneID29071.
KEGGhsa:29071.
UCSCuc004esy.3. human.

Organism-specific databases

CTD29071.
GeneCardsGC0XM119759.
HGNCHGNC:24338. C1GALT1C1.
HPAHPA015632.
MIM300611. gene.
300622. phenotype.
neXtProtNX_Q96EU7.
PharmGKBPA134974626.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG254346.
HOGENOMHOG000013033.
HOVERGENHBG059493.
InParanoidQ96EU7.
KOK09653.
OMACLKYTGV.
OrthoDBEOG7ZGX3B.
PhylomeDBQ96EU7.
TreeFamTF317293.

Enzyme and pathway databases

BRENDA2.4.1.122. 2681.
ReactomeREACT_17015. Metabolism of proteins.

Gene expression databases

BgeeQ96EU7.
CleanExHS_C1GALT1C1.
GenevestigatorQ96EU7.

Family and domain databases

InterProIPR026731. C1GALT1C1.
[Graphical view]
PANTHERPTHR23033:SF2. PTHR23033:SF2. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi29071.
NextBio52025.
PROQ96EU7.
SOURCESearch...

Entry information

Entry nameC1GLC_HUMAN
AccessionPrimary (citable) accession number: Q96EU7
Secondary accession number(s): A8K246, Q8WWS3, Q9NZX1
Entry history
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: December 1, 2001
Last modified: July 9, 2014
This is version 102 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM