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Protein

Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase

Gene

GCNT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Glycosyltransferase that catalyzes the transfer of an N-acetylglucosamine moiety onto mucin-type core 1 O-glycan to form the branched mucin-type core 2 O-glycan. Mucin-type core 2 O-glycans play an important role in leukocyte extravasation as they serve as scaffolds for the display of the selectin ligand sialyl Lewis X by leukocytes.1 Publication

Catalytic activityi

UDP-N-acetyl-D-glucosamine + beta-D-galactosyl-1,3-N-acetyl-D-galactosaminyl-R = UDP + beta-D-galactosyl-1,3-(N-acetyl-beta-D-glucosaminyl-1,6)-N-acetyl-D-galactosaminyl-R.

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei320 – 3201By similarity

GO - Molecular functioni

GO - Biological processi

  • cell adhesion molecule production Source: UniProtKB
  • cellular protein metabolic process Source: Reactome
  • glycoprotein biosynthetic process Source: UniProtKB
  • kidney morphogenesis Source: Ensembl
  • leukocyte tethering or rolling Source: UniProtKB
  • O-glycan processing Source: Reactome
  • post-translational protein modification Source: Reactome
  • protein O-linked glycosylation Source: Reactome
  • response to insulin Source: Ensembl
  • tissue morphogenesis Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

BioCyciMetaCyc:HS05939-MONOMER.
BRENDAi2.4.1.102. 2681.
ReactomeiR-HSA-913709. O-linked glycosylation of mucins.
SignaLinkiQ02742.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT14. Glycosyltransferase Family 14.

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase (EC:2.4.1.102)
Alternative name(s):
Core 2-branching enzyme
Core2-GlcNAc-transferase
Short name:
C2GNT
Short name:
Core 2 GNT
Gene namesi
Name:GCNT1
Synonyms:NACGT2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:4203. GCNT1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 99CytoplasmicSequence analysis
Transmembranei10 – 3223Helical; Signal-anchor for type II membrane proteinSequence analysisAdd
BLAST
Topological domaini33 – 428396LumenalSequence analysisAdd
BLAST

GO - Cellular componenti

  • extracellular space Source: Ensembl
  • Golgi cisterna Source: UniProtKB
  • Golgi membrane Source: Reactome
  • integral component of membrane Source: ProtInc
  • trans-Golgi network Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi5 – 62LL → AA: Loss of interaction with GOLPH3 and loss of localization to the Golgi. 1 Publication
Mutagenesisi7 – 93RRR → AAA: Loss of interaction with GOLPH3 and loss of localization to the Golgi. 1 Publication

Organism-specific databases

PharmGKBiPA168.

Chemistry

ChEMBLiCHEMBL2321632.

Polymorphism and mutation databases

BioMutaiGCNT1.
DMDMi218512053.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 428428Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferasePRO_0000191395Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi52 – 521N-linked (GlcNAc...)Sequence analysis
Glycosylationi58 – 581N-linked (GlcNAc...)Sequence analysis
Disulfide bondi59 ↔ 413By similarity
Glycosylationi95 – 951N-linked (GlcNAc...)Sequence analysis
Disulfide bondi100 ↔ 172By similarity
Disulfide bondi151 ↔ 199By similarity
Disulfide bondi372 ↔ 381By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ02742.
MaxQBiQ02742.
PaxDbiQ02742.
PRIDEiQ02742.

PTM databases

PhosphoSiteiQ02742.

Expressioni

Tissue specificityi

Highly expressed in activated T-lymphocytes and myeloid cells.

Gene expression databases

BgeeiQ02742.
CleanExiHS_GCNT1.
GenevisibleiQ02742. HS.

Organism-specific databases

HPAiHPA031151.

Interactioni

Subunit structurei

Interacts with GOLPH3; may control GCNT1 retention in the Golgi.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
GOLPH3Q9H4A66EBI-8766035,EBI-2465479

Protein-protein interaction databases

BioGridi108920. 7 interactions.
IntActiQ02742. 12 interactions.
STRINGi9606.ENSP00000365920.

Structurei

3D structure databases

ProteinModelPortaliQ02742.
SMRiQ02742. Positions 56-424.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni5 – 95Mediates interaction with GOLPH3 and is necessary and sufficent for localization to the Golgi
Regioni33 – 12189Stem regionBy similarityAdd
BLAST
Regioni122 – 428307CatalyticBy similarityAdd
BLAST

Sequence similaritiesi

Belongs to the glycosyltransferase 14 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0799. Eukaryota.
ENOG410XQ7M. LUCA.
GeneTreeiENSGT00760000119183.
HOGENOMiHOG000293251.
HOVERGENiHBG051711.
InParanoidiQ02742.
KOiK00727.
OMAiGIHVRSV.
OrthoDBiEOG74N5HW.
PhylomeDBiQ02742.
TreeFamiTF315534.

Family and domain databases

InterProiIPR003406. Glyco_trans_14.
[Graphical view]
PfamiPF02485. Branch. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q02742-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLRTLLRRRL FSYPTKYYFM VLVLSLITFS VLRIHQKPEF VSVRHLELAG
60 70 80 90 100
ENPSSDINCT KVLQGDVNEI QKVKLEILTV KFKKRPRWTP DDYINMTSDC
110 120 130 140 150
SSFIKRRKYI VEPLSKEEAE FPIAYSIVVH HKIEMLDRLL RAIYMPQNFY
160 170 180 190 200
CIHVDTKSED SYLAAVMGIA SCFSNVFVAS RLESVVYASW SRVQADLNCM
210 220 230 240 250
KDLYAMSANW KYLINLCGMD FPIKTNLEIV RKLKLLMGEN NLETERMPSH
260 270 280 290 300
KEERWKKRYE VVNGKLTNTG TVKMLPPLET PLFSGSAYFV VSREYVGYVL
310 320 330 340 350
QNEKIQKLME WAQDTYSPDE YLWATIQRIP EVPGSLPASH KYDLSDMQAV
360 370 380 390 400
ARFVKWQYFE GDVSKGAPYP PCDGVHVRSV CIFGAGDLNW MLRKHHLFAN
410 420
KFDVDVDLFA IQCLDEHLRH KALETLKH
Length:428
Mass (Da):49,799
Last modified:December 16, 2008 - v2
Checksum:i71D71A251874E1F0
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti152 – 1521I → V.2 Publications
Corresponds to variant rs2282683 [ dbSNP | Ensembl ].
VAR_048000
Natural varianti158 – 1581S → C.
Corresponds to variant rs11546569 [ dbSNP | Ensembl ].
VAR_048001

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M97347 mRNA. Translation: AAA35919.1.
L41415 Genomic DNA. Translation: AAA96661.1.
AL161626 Genomic DNA. Translation: CAI39746.1.
CH471089 Genomic DNA. Translation: EAW62580.1.
BC074885 mRNA. Translation: AAH74885.1.
BC074886 mRNA. Translation: AAH74886.1.
BC109101 mRNA. Translation: AAI09102.1.
BC109102 mRNA. Translation: AAI09103.1.
CCDSiCCDS6653.1.
PIRiA46293.
RefSeqiNP_001091102.1. NM_001097633.1.
NP_001091103.1. NM_001097634.1.
NP_001091104.1. NM_001097635.1.
NP_001091105.1. NM_001097636.1.
NP_001481.2. NM_001490.4.
XP_006717115.1. XM_006717052.2.
UniGeneiHs.521568.

Genome annotation databases

EnsembliENST00000376730; ENSP00000365920; ENSG00000187210.
ENST00000442371; ENSP00000415454; ENSG00000187210.
ENST00000444201; ENSP00000390703; ENSG00000187210.
GeneIDi2650.
KEGGihsa:2650.
UCSCiuc004akf.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M97347 mRNA. Translation: AAA35919.1.
L41415 Genomic DNA. Translation: AAA96661.1.
AL161626 Genomic DNA. Translation: CAI39746.1.
CH471089 Genomic DNA. Translation: EAW62580.1.
BC074885 mRNA. Translation: AAH74885.1.
BC074886 mRNA. Translation: AAH74886.1.
BC109101 mRNA. Translation: AAI09102.1.
BC109102 mRNA. Translation: AAI09103.1.
CCDSiCCDS6653.1.
PIRiA46293.
RefSeqiNP_001091102.1. NM_001097633.1.
NP_001091103.1. NM_001097634.1.
NP_001091104.1. NM_001097635.1.
NP_001091105.1. NM_001097636.1.
NP_001481.2. NM_001490.4.
XP_006717115.1. XM_006717052.2.
UniGeneiHs.521568.

3D structure databases

ProteinModelPortaliQ02742.
SMRiQ02742. Positions 56-424.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108920. 7 interactions.
IntActiQ02742. 12 interactions.
STRINGi9606.ENSP00000365920.

Chemistry

ChEMBLiCHEMBL2321632.

Protein family/group databases

CAZyiGT14. Glycosyltransferase Family 14.

PTM databases

PhosphoSiteiQ02742.

Polymorphism and mutation databases

BioMutaiGCNT1.
DMDMi218512053.

Proteomic databases

EPDiQ02742.
MaxQBiQ02742.
PaxDbiQ02742.
PRIDEiQ02742.

Protocols and materials databases

DNASUi2650.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000376730; ENSP00000365920; ENSG00000187210.
ENST00000442371; ENSP00000415454; ENSG00000187210.
ENST00000444201; ENSP00000390703; ENSG00000187210.
GeneIDi2650.
KEGGihsa:2650.
UCSCiuc004akf.5. human.

Organism-specific databases

CTDi2650.
GeneCardsiGCNT1.
H-InvDBHIX0008111.
HGNCiHGNC:4203. GCNT1.
HPAiHPA031151.
MIMi600391. gene.
neXtProtiNX_Q02742.
PharmGKBiPA168.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0799. Eukaryota.
ENOG410XQ7M. LUCA.
GeneTreeiENSGT00760000119183.
HOGENOMiHOG000293251.
HOVERGENiHBG051711.
InParanoidiQ02742.
KOiK00727.
OMAiGIHVRSV.
OrthoDBiEOG74N5HW.
PhylomeDBiQ02742.
TreeFamiTF315534.

Enzyme and pathway databases

UniPathwayiUPA00378.
BioCyciMetaCyc:HS05939-MONOMER.
BRENDAi2.4.1.102. 2681.
ReactomeiR-HSA-913709. O-linked glycosylation of mucins.
SignaLinkiQ02742.

Miscellaneous databases

ChiTaRSiGCNT1. human.
GeneWikiiGCNT1.
GenomeRNAii2650.
NextBioi10460.
PROiQ02742.
SOURCEiSearch...

Gene expression databases

BgeeiQ02742.
CleanExiHS_GCNT1.
GenevisibleiQ02742. HS.

Family and domain databases

InterProiIPR003406. Glyco_trans_14.
[Graphical view]
PfamiPF02485. Branch. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Expression cloning of a cDNA encoding UDP-GlcNAc:Gal beta 1-3-GalNAc-R (GlcNAc to GalNAc) beta 1-6GlcNAc transferase by gene transfer into CHO cells expressing polyoma large tumor antigen."
    Bierhuizen M.F.A., Fukuda M.
    Proc. Natl. Acad. Sci. U.S.A. 89:9326-9330(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT VAL-152.
  2. "Genomic organization of core 2 and I branching beta-1,6-N-acetylglucosaminyltransferases. Implication for evolution of the beta-1,6-N-acetylglucosaminyltransferase gene family."
    Bierhuizen M.F.A., Maemura K., Kudo S., Fukuda M.
    Glycobiology 5:417-425(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-152.
    Tissue: Placenta.
  3. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. 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].
    Tissue: Lung.
  6. "Golgi phosphoprotein 3 determines cell binding properties under dynamic flow by controlling Golgi localization of core 2 N-acetylglucosaminyltransferase 1."
    Ali M.F., Chachadi V.B., Petrosyan A., Cheng P.W.
    J. Biol. Chem. 287:39564-39577(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH GOLPH3, SUBCELLULAR LOCATION, MUTAGENESIS OF 5-LEU-LEU-6 AND 7-ARG--ARG-9.

Entry informationi

Entry nameiGCNT1_HUMAN
AccessioniPrimary (citable) accession number: Q02742
Secondary accession number(s): Q6DJZ4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: December 16, 2008
Last modified: March 16, 2016
This is version 138 of the entry and version 2 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.