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Q9NS00

- C1GLT_HUMAN

UniProt

Q9NS00 - C1GLT_HUMAN

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Protein
Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
Gene
C1GALT1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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 activityi

UDP-alpha-D-galactose + glycoprotein N-acetyl-D-galactosamine = UDP + glycoprotein D-galactosyl-(1->3)-N-acetyl-D-galactosamine.1 Publication

Cofactori

Magnesium By similarity.

Pathwayi

GO - Molecular functioni

  1. glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity Source: UniProtKB
  2. metal ion binding Source: UniProtKB-KW
  3. protein binding Source: IntAct
Complete GO annotation...

GO - Biological processi

  1. O-glycan processing Source: Reactome
  2. angiogenesis Source: UniProtKB
  3. cell differentiation Source: UniProtKB-KW
  4. cellular protein metabolic process Source: Reactome
  5. kidney development Source: UniProtKB
  6. post-translational protein modification Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Glycosyltransferase, Transferase

Keywords - Biological processi

Angiogenesis, Differentiation

Keywords - Ligandi

Magnesium, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS02901-MONOMER.
BRENDAi2.4.1.122. 2681.
ReactomeiREACT_115606. O-linked glycosylation of mucins.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT31. Glycosyltransferase Family 31.

Names & Taxonomyi

Protein namesi
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 namesi
Name:C1GALT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:24337. C1GALT1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini2 – 65Cytoplasmic Reviewed prediction
Transmembranei7 – 2923Helical; Signal-anchor for type II membrane protein; Reviewed prediction
Add
BLAST
Topological domaini30 – 363334Lumenal Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. Golgi membrane Source: Reactome
  2. integral component of membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134971259.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed By similarity
Chaini2 – 363362Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
PRO_0000285064Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei235 – 2351Phosphoserine By similarity

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

MaxQBiQ9NS00.
PaxDbiQ9NS00.
PeptideAtlasiQ9NS00.
PRIDEiQ9NS00.

PTM databases

PhosphoSiteiQ9NS00.

Expressioni

Tissue specificityi

Widely expressed. Highly expressed in kidney, heart, placenta and liver.1 Publication

Gene expression databases

ArrayExpressiQ9NS00.
BgeeiQ9NS00.
CleanExiHS_C1GALT1.
GenevestigatoriQ9NS00.

Organism-specific databases

HPAiHPA011294.
HPA012819.

Interactioni

Subunit structurei

Homodimer; disulfide-linked By similarity. Interacts with the C1GALT1C1 chaperone; required for galactosyltransferase activity.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
C1GALT1C1Q96EU74EBI-8628584,EBI-2837343

Protein-protein interaction databases

BioGridi121241. 3 interactions.
IntActiQ9NS00. 1 interaction.
MINTiMINT-2819104.
STRINGi9606.ENSP00000223122.

Structurei

3D structure databases

ProteinModelPortaliQ9NS00.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG254346.
HOGENOMiHOG000021316.
HOVERGENiHBG097900.
InParanoidiQ9NS00.
KOiK00731.
OMAiCMEIINV.
PhylomeDBiQ9NS00.
TreeFamiTF317293.

Family and domain databases

InterProiIPR026842. C1GALT1.
IPR003378. Fringe-like.
[Graphical view]
PANTHERiPTHR23033:SF13. PTHR23033:SF13. 1 hit.
PfamiPF02434. Fringe. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9NS00-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MASKSWLNFL TFLCGSAIGF LLCSQLFSIL LGEKVDTQPN VLHNDPHARH    50
SDDNGQNHLE GQMNFNADSS QHKDENTDIA ENLYQKVRIL CWVMTGPQNL 100
EKKAKHVKAT WAQRCNKVLF MSSEENKDFP AVGLKTKEGR DQLYWKTIKA 150
FQYVHEHYLE DADWFLKADD DTYVILDNLR WLLSKYDPEE PIYFGRRFKP 200
YVKQGYMSGG AGYVLSKEAL KRFVDAFKTD KCTHSSSIED LALGRCMEIM 250
NVEAGDSRDT IGKETFHPFV PEHHLIKGYL PRTFWYWNYN YYPPVEGPGC 300
CSDLAVSFHY VDSTTMYELE YLVYHLRPYG YLYRYQPTLP ERILKEISQA 350
NKNEDTKVKL GNP 363
Length:363
Mass (Da):42,203
Last modified:October 1, 2000 - v1
Checksum:i01F472B55C5F526F
GO
Isoform 2 (identifier: Q9NS00-2) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:309
Mass (Da):35,935
Checksum:i8FF6B139ED96421D
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei297 – 36367GPGCC…KLGNP → VSLEILLLCQYLD in isoform 2.
VSP_024809Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS5355.1. [Q9NS00-1]
RefSeqiNP_064541.1. NM_020156.4. [Q9NS00-1]
XP_005249870.1. XM_005249813.2. [Q9NS00-1]
XP_006715822.1. XM_006715759.1. [Q9NS00-1]
UniGeneiHs.239666.

Genome annotation databases

EnsembliENST00000223122; ENSP00000223122; ENSG00000106392. [Q9NS00-1]
ENST00000402468; ENSP00000384550; ENSG00000106392. [Q9NS00-2]
ENST00000436587; ENSP00000389176; ENSG00000106392. [Q9NS00-1]
GeneIDi56913.
KEGGihsa:56913.
UCSCiuc003sra.4. human. [Q9NS00-1]
uc010kto.2. human. [Q9NS00-2]

Polymorphism databases

DMDMi74719147.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Functional Glycomics Gateway - GTase

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

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS5355.1. [Q9NS00-1 ]
RefSeqi NP_064541.1. NM_020156.4. [Q9NS00-1 ]
XP_005249870.1. XM_005249813.2. [Q9NS00-1 ]
XP_006715822.1. XM_006715759.1. [Q9NS00-1 ]
UniGenei Hs.239666.

3D structure databases

ProteinModelPortali Q9NS00.
ModBasei Search...

Protein-protein interaction databases

BioGridi 121241. 3 interactions.
IntActi Q9NS00. 1 interaction.
MINTi MINT-2819104.
STRINGi 9606.ENSP00000223122.

Chemistry

ChEMBLi CHEMBL2321633.

Protein family/group databases

CAZyi GT31. Glycosyltransferase Family 31.

PTM databases

PhosphoSitei Q9NS00.

Polymorphism databases

DMDMi 74719147.

Proteomic databases

MaxQBi Q9NS00.
PaxDbi Q9NS00.
PeptideAtlasi Q9NS00.
PRIDEi Q9NS00.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000223122 ; ENSP00000223122 ; ENSG00000106392 . [Q9NS00-1 ]
ENST00000402468 ; ENSP00000384550 ; ENSG00000106392 . [Q9NS00-2 ]
ENST00000436587 ; ENSP00000389176 ; ENSG00000106392 . [Q9NS00-1 ]
GeneIDi 56913.
KEGGi hsa:56913.
UCSCi uc003sra.4. human. [Q9NS00-1 ]
uc010kto.2. human. [Q9NS00-2 ]

Organism-specific databases

CTDi 56913.
GeneCardsi GC07P007196.
HGNCi HGNC:24337. C1GALT1.
HPAi HPA011294.
HPA012819.
MIMi 610555. gene.
neXtProti NX_Q9NS00.
PharmGKBi PA134971259.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG254346.
HOGENOMi HOG000021316.
HOVERGENi HBG097900.
InParanoidi Q9NS00.
KOi K00731.
OMAi CMEIINV.
PhylomeDBi Q9NS00.
TreeFami TF317293.

Enzyme and pathway databases

UniPathwayi UPA00378 .
BioCyci MetaCyc:HS02901-MONOMER.
BRENDAi 2.4.1.122. 2681.
Reactomei REACT_115606. O-linked glycosylation of mucins.

Miscellaneous databases

GenomeRNAii 56913.
NextBioi 62395.
PROi Q9NS00.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9NS00.
Bgeei Q9NS00.
CleanExi HS_C1GALT1.
Genevestigatori Q9NS00.

Family and domain databases

InterProi IPR026842. C1GALT1.
IPR003378. Fringe-like.
[Graphical view ]
PANTHERi PTHR23033:SF13. PTHR23033:SF13. 1 hit.
Pfami PF02434. Fringe. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiC1GLT_HUMAN
AccessioniPrimary (citable) accession number: Q9NS00
Secondary accession number(s): Q96QH4, Q9BTU1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: October 1, 2000
Last modified: September 3, 2014
This is version 93 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

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.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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