Q96EU7 (C1GLC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	C1GALT1C1
Synonyms:	COSMC
ORF Names:	HSPC067, MSTP143, UNQ273/PRO310

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	318 AA.
Sequence status	Complete.
Protein existence	Evidence 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 syndrome (TNSYN) [MIM:300622]: Rare autoimmune disease caused by somatic mutation in the C1GALT1C1 gene in which subpopulations of blood cells of all lineages carry an incompletely glycosylated membrane glycoprotein, i.e., the Tn antigen. Since leukocytes and platelets are affected as well as red cells, anemia, leukopenia and thrombocytopenia are features. Tn-polyagglutinability is sometimes associated with leukemia or is a preleukemic state. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12
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.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Chaperone
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	O-glycan processing Traceable author statement. Source: Reactome post-translational protein modification Traceable author statement. Source: Reactome
Cellular_component	Golgi membrane Traceable author statement. Source: Reactome integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	polypeptide N-acetylgalactosaminyltransferase activity Traceable author statement. Source: Reactome
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 318	318	C1GALT1-specific chaperone 1		PRO_0000285074
Regions
	Topological domain	1 – 6	6	Cytoplasmic Potential
	Transmembrane	7 – 26	20	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	27 – 318	292	Lumenal Potential
Natural variations
	Natural variant	131	1	D → E Common polymorphism; retains capacity to promote Tn synthase activity. Ref.12 Corresponds to variant rs17261572 [ dbSNP | Ensembl ].		VAR_031910
	Natural variant	152	1	E → K in TNSYN; loss capacity to promote Tn synthase activity. Ref.12		VAR_031911
Experimental info
	Sequence conflict	76	1	K → E in CAC80277. Ref.4
	Sequence conflict	107	1	V → E in AAF29039. Ref.5
	Sequence conflict	108	1	F → L in CAC80277. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q96EU7 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 5D766966A872CA84	FASTA	318	36,382
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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. , 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. , 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 TNSYN LYS-152, VARIANT GLU-131, CHARACTERIZATION OF VARIANT TNSYN 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.
+	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.
IPI	IPI00101299.
RefSeq	NP_001011551.1. NM_001011551.2. NP_689905.1. NM_152692.4.
UniGene	Hs.643920.
3D structure databases
ProteinModelPortal	Q96EU7.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96EU7. 1 interaction.
STRING	9606.ENSP00000304364.
Protein family/group databases
CAZy	GT31. Glycosyltransferase Family 31.
PTM databases
PhosphoSite	Q96EU7.
Polymorphism databases
DMDM	74751849.
Proteomic databases
PaxDb	Q96EU7.
PRIDE	Q96EU7.
Protocols and materials databases
DNASU	29071.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000304661; ENSP00000304364; ENSG00000171155. ENST00000371313; ENSP00000360363; ENSG00000171155.
GeneID	29071.
KEGG	hsa:29071.
UCSC	uc004esy.3. human.
Organism-specific databases
CTD	29071.
GeneCards	GC0XM119759.
HGNC	HGNC:24338. C1GALT1C1.
HPA	HPA015632.
MIM	300611. gene. 300622. phenotype.
neXtProt	NX_Q96EU7.
PharmGKB	PA134974626.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG254346.
HOGENOM	HOG000013033.
HOVERGEN	HBG059493.
InParanoid	Q96EU7.
KO	K09653.
OMA	SSFLKGM.
OrthoDB	EOG46WZ93.
PhylomeDB	Q96EU7.
Enzyme and pathway databases
BRENDA	2.4.1.122. 2681.
Reactome	REACT_17015. Metabolism of proteins.
Gene expression databases
Bgee	Q96EU7.
CleanEx	HS_C1GALT1C1.
Genevestigator	Q96EU7.
Family and domain databases
InterPro	IPR026731. C1GALT1C1. [Graphical view]
PANTHER	PTHR23033:SF2. PTHR23033:SF2. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	29071.
NextBio	52025.
SOURCE	Search...

Entry information

Entry name

C1GLC_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 91 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.