Q9NS00 (C1GLT_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:

C1GALT1

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	363 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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 activity	UDP-alpha-D-galactose + glycoprotein N-acetyl-D-galactosamine = UDP + glycoprotein D-galactosyl-(1->3)-N-acetyl-D-galactosamine. Ref.1
Cofactor	Magnesium By similarity.
Pathway	Protein modification; protein glycosylation.
Subunit structure	Homodimer; disulfide-linked By similarity. Interacts with the C1GALT1C1 chaperone; required for galactosyltransferase activity. Ref.6
Subcellular location	Membrane; Single-pass type II membrane protein By similarity.
Tissue specificity	Widely expressed. Highly expressed in kidney, heart, placenta and liver. Ref.1
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.
Sequence similarities	Belongs to the glycosyltransferase 31 family. Beta3-Gal-T subfamily.

Ontologies

Keywords
Biological process	Angiogenesis Differentiation
Cellular component	Membrane
Coding sequence diversity	Alternative splicing
Domain	Signal-anchor Transmembrane Transmembrane helix
Ligand	Magnesium Metal-binding
Molecular function	Developmental protein Glycosyltransferase Transferase
PTM	Disulfide bond Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	O-glycan processing Traceable author statement. Source: Reactome angiogenesis Inferred from mutant phenotype Ref.7. Source: UniProtKB cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW kidney development Inferred from mutant phenotype Ref.7. Source: UniProtKB post-translational protein modification Traceable author statement. Source: Reactome
Cellular_component	Golgi membrane Traceable author statement. Source: Reactome integral to membrane Inferred from direct assay Ref.1. Source: UniProtKB
Molecular_function	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity Inferred from direct assay Ref.1. Source: UniProtKB metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NS00-1)

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.

Isoform 2 (identifier: Q9NS00-2)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed By similarity
	Chain	2 – 363	362	Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1		PRO_0000285064
Regions
	Topological domain	2 – 6	5	Cytoplasmic Potential
	Transmembrane	7 – 29	23	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	30 – 363	334	Lumenal Potential
Amino acid modifications
	Modified residue	235	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	297 – 363	67	GPGCC…KLGNP → VSLEILLLCQYLD in isoform 2.		VSP_024809

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 01F472B55C5F526F	FASTA	363	42,203
	10 20 30 40 50 60 MASKSWLNFL TFLCGSAIGF LLCSQLFSIL LGEKVDTQPN VLHNDPHARH SDDNGQNHLE 70 80 90 100 110 120 GQMNFNADSS QHKDENTDIA ENLYQKVRIL CWVMTGPQNL EKKAKHVKAT WAQRCNKVLF 130 140 150 160 170 180 MSSEENKDFP AVGLKTKEGR DQLYWKTIKA FQYVHEHYLE DADWFLKADD DTYVILDNLR 190 200 210 220 230 240 WLLSKYDPEE PIYFGRRFKP YVKQGYMSGG AGYVLSKEAL KRFVDAFKTD KCTHSSSIED 250 260 270 280 290 300 LALGRCMEIM NVEAGDSRDT IGKETFHPFV PEHHLIKGYL PRTFWYWNYN YYPPVEGPGC 310 320 330 340 350 360 CSDLAVSFHY VDSTTMYELE YLVYHLRPYG YLYRYQPTLP ERILKEISQA NKNEDTKVKL GNP
	Isoform 2 [UniParc]. Checksum: 8FF6B139ED96421D	FASTA	309	35,935
	10 20 30 40 50 60 MASKSWLNFL TFLCGSAIGF LLCSQLFSIL LGEKVDTQPN VLHNDPHARH SDDNGQNHLE 70 80 90 100 110 120 GQMNFNADSS QHKDENTDIA ENLYQKVRIL CWVMTGPQNL EKKAKHVKAT WAQRCNKVLF 130 140 150 160 170 180 MSSEENKDFP AVGLKTKEGR DQLYWKTIKA FQYVHEHYLE DADWFLKADD DTYVILDNLR 190 200 210 220 230 240 WLLSKYDPEE PIYFGRRFKP YVKQGYMSGG AGYVLSKEAL KRFVDAFKTD KCTHSSSIED 250 260 270 280 290 300 LALGRCMEIM NVEAGDSRDT IGKETFHPFV PEHHLIKGYL PRTFWYWNYN YYPPVEVSLE ILLLCQYLD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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.
+	Additional computationally mapped references.

Web resources

Functional Glycomics Gateway - GTase

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

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00024566. IPI00845228.
RefSeq	NP_064541.1. NM_020156.4.
UniGene	Hs.239666.
3D structure databases
ProteinModelPortal	Q9NS00.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000223122.
Protein family/group databases
CAZy	GT31. Glycosyltransferase Family 31.
PTM databases
PhosphoSite	Q9NS00.
Polymorphism databases
DMDM	74719147.
Proteomic databases
PaxDb	Q9NS00.
PeptideAtlas	Q9NS00.
PRIDE	Q9NS00.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000223122; ENSP00000223122; ENSG00000106392. ENST00000402468; ENSP00000384550; ENSG00000106392. ENST00000436587; ENSP00000389176; ENSG00000106392.
GeneID	56913.
KEGG	hsa:56913.
UCSC	uc003sra.3. human. uc010kto.2. human.
Organism-specific databases
CTD	56913.
GeneCards	GC07P007196.
HGNC	HGNC:24337. C1GALT1.
HPA	HPA011294. HPA012819.
MIM	610555. gene.
neXtProt	NX_Q9NS00.
PharmGKB	PA134971259.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG254346.
HOGENOM	HOG000021316.
HOVERGEN	HBG097900.
InParanoid	Q9NS00.
KO	K00731.
OMA	TTGKETF.
PhylomeDB	Q9NS00.
Enzyme and pathway databases
BRENDA	2.4.1.122. 2681.
Reactome	REACT_17015. Metabolism of proteins.
UniPathway	UPA00378.
Gene expression databases
ArrayExpress	Q9NS00.
Bgee	Q9NS00.
CleanEx	HS_C1GALT1.
Genevestigator	Q9NS00.
Family and domain databases
InterPro	IPR026842. C1GALT1. IPR003378. Fringe-like. [Graphical view]
PANTHER	PTHR23033:SF1. PTHR23033:SF1. 1 hit.
Pfam	PF02434. Fringe. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	56913.
NextBio	62395.
SOURCE	Search...

Entry information

Entry name

C1GLT_HUMAN

Accession

Primary (citable) accession number: Q9NS00
Secondary accession number(s): Q96QH4, Q9BTU1

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 15, 2007
Last sequence update:	October 1, 2000
Last modified:	April 3, 2013
This is version 79 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.