GCNT4_HUMAN
ID GCNT4_HUMAN Reviewed; 453 AA.
AC Q9P109;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4;
DE EC=2.4.1.102 {ECO:0000269|PubMed:10753916};
DE AltName: Full=Core 2-branching enzyme 3;
DE AltName: Full=Core2-GlcNAc-transferase 3;
DE Short=C2GnT3;
GN Name=GCNT4;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, ENZYME ACTIVITY, AND TISSUE
RP SPECIFICITY.
RX PubMed=10753916; DOI=10.1074/jbc.275.15.11106;
RA Schwientek T., Yeh J.-C., Levery S.B., Keck B., Merkx G., van Kessel A.G.,
RA Fukuda M., Clausen H.;
RT "Control of O-glycan branch formation. Molecular cloning and
RT characterization of a novel thymus-associated core 2 beta1, 6-n-
RT acetylglucosaminyltransferase.";
RL J. Biol. Chem. 275:11106-11113(2000).
CC -!- FUNCTION: Glycosyltransferase that mediates core 2 O-glycan branching,
CC an important step in mucin-type biosynthesis. Does not have core 4 O-
CC glycan or I-branching enzyme activity. {ECO:0000269|PubMed:10753916}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=O(3)-[beta-D-galactosyl-(1->3)-N-acetyl-alpha-D-
CC galactosaminyl]-L-seryl-[protein] + UDP-N-acetyl-alpha-D-glucosamine
CC = 3-O-{beta-D-galactosyl-(1->3)-[N-acetyl-beta-D-glucosaminyl-
CC (1->6)]-N-acetyl-alpha-D-galactosaminyl}-L-seryl-[protein] + H(+) +
CC UDP; Xref=Rhea:RHEA:56212, Rhea:RHEA-COMP:13922, Rhea:RHEA-
CC COMP:14419, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223,
CC ChEBI:CHEBI:137949, ChEBI:CHEBI:139605; EC=2.4.1.102;
CC Evidence={ECO:0000269|PubMed:10753916};
CC -!- CATALYTIC ACTIVITY:
CC Reaction=O(3)-[beta-D-galactosyl-(1->3)-N-acetyl-alpha-D-
CC galactosaminyl]-L-threonyl-[protein] + UDP-N-acetyl-alpha-D-
CC glucosamine = 3-O-{beta-D-galactosyl-(1->3)-[N-acetyl-beta-D-
CC glucosaminyl-(1->6)]-N-acetyl-alpha-D-galactosaminyl}-L-threonyl-
CC [protein] + H(+) + UDP; Xref=Rhea:RHEA:56216, Rhea:RHEA-COMP:13923,
CC Rhea:RHEA-COMP:14420, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705,
CC ChEBI:CHEBI:58223, ChEBI:CHEBI:137950, ChEBI:CHEBI:139607;
CC EC=2.4.1.102; Evidence={ECO:0000269|PubMed:10753916};
CC -!- PATHWAY: Protein modification; protein glycosylation.
CC -!- SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250}; Single-
CC pass type II membrane protein {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Predominantly expressed in thymus. Weakly expressed
CC in pancreas, peripheral blood leukocytes, placenta, small intestine and
CC stomach. Barely detectable in liver, spleen, lung and lymph node.
CC {ECO:0000269|PubMed:10753916}.
CC -!- SIMILARITY: Belongs to the glycosyltransferase 14 family.
CC {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=Core 2
CC beta-1,6-N-acetylglucosaminyltransferase 3;
CC URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_542";
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DR EMBL; AF132035; AAF63156.1; -; mRNA.
DR CCDS; CCDS4026.1; -.
DR RefSeq; NP_057675.1; NM_016591.2.
DR AlphaFoldDB; Q9P109; -.
DR SMR; Q9P109; -.
DR BioGRID; 119452; 4.
DR STRING; 9606.ENSP00000317027; -.
DR CAZy; GT14; Glycosyltransferase Family 14.
DR GlyGen; Q9P109; 2 sites.
DR iPTMnet; Q9P109; -.
DR PhosphoSitePlus; Q9P109; -.
DR BioMuta; GCNT4; -.
DR DMDM; 74719783; -.
DR EPD; Q9P109; -.
DR jPOST; Q9P109; -.
DR MassIVE; Q9P109; -.
DR PaxDb; Q9P109; -.
DR PeptideAtlas; Q9P109; -.
DR PRIDE; Q9P109; -.
DR ProteomicsDB; 83630; -.
DR Antibodypedia; 24369; 78 antibodies from 21 providers.
DR DNASU; 51301; -.
DR Ensembl; ENST00000322348.5; ENSP00000317027.4; ENSG00000176928.7.
DR Ensembl; ENST00000652361.2; ENSP00000498836.1; ENSG00000176928.7.
DR MANE-Select; ENST00000652361.2; ENSP00000498836.1; NM_001366737.1; NP_001353666.1.
DR UCSC; uc003kdn.4; human.
DR GeneCards; GCNT4; -.
DR HGNC; HGNC:17973; GCNT4.
DR HPA; ENSG00000176928; Tissue enhanced (intestine, lymphoid tissue, stomach).
DR neXtProt; NX_Q9P109; -.
DR OpenTargets; ENSG00000176928; -.
DR PharmGKB; PA143485475; -.
DR VEuPathDB; HostDB:ENSG00000176928; -.
DR eggNOG; KOG0799; Eukaryota.
DR GeneTree; ENSGT00940000159721; -.
DR HOGENOM; CLU_032341_1_2_1; -.
DR InParanoid; Q9P109; -.
DR OMA; YVKLPVR; -.
DR OrthoDB; 868849at2759; -.
DR PhylomeDB; Q9P109; -.
DR TreeFam; TF315534; -.
DR BRENDA; 2.4.1.102; 2681.
DR PathwayCommons; Q9P109; -.
DR Reactome; R-HSA-913709; O-linked glycosylation of mucins.
DR SignaLink; Q9P109; -.
DR UniPathway; UPA00378; -.
DR BioGRID-ORCS; 51301; 11 hits in 1065 CRISPR screens.
DR ChiTaRS; GCNT4; human.
DR GenomeRNAi; 51301; -.
DR Pharos; Q9P109; Tdark.
DR PRO; PR:Q9P109; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9P109; protein.
DR Bgee; ENSG00000176928; Expressed in islet of Langerhans and 93 other tissues.
DR Genevisible; Q9P109; HS.
DR GO; GO:0000139; C:Golgi membrane; TAS:Reactome.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0008375; F:acetylglucosaminyltransferase activity; IBA:GO_Central.
DR GO; GO:0003829; F:beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity; TAS:Reactome.
DR GO; GO:0008109; F:N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity; TAS:ProtInc.
DR GO; GO:0005975; P:carbohydrate metabolic process; TAS:ProtInc.
DR GO; GO:0002121; P:inter-male aggressive behavior; IEA:Ensembl.
DR GO; GO:0060993; P:kidney morphogenesis; IEA:Ensembl.
DR GO; GO:0001780; P:neutrophil homeostasis; IEA:Ensembl.
DR GO; GO:0016266; P:O-glycan processing; TAS:Reactome.
DR GO; GO:0006493; P:protein O-linked glycosylation; TAS:ProtInc.
DR GO; GO:0042403; P:thyroid hormone metabolic process; IEA:Ensembl.
DR GO; GO:0048729; P:tissue morphogenesis; IEA:Ensembl.
DR InterPro; IPR003406; Glyco_trans_14.
DR Pfam; PF02485; Branch; 1.
PE 2: Evidence at transcript level;
KW Disulfide bond; Glycoprotein; Glycosyltransferase; Golgi apparatus;
KW Membrane; Reference proteome; Signal-anchor; Transferase; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..453
FT /note="Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-
FT 1,6-N-acetylglucosaminyltransferase 4"
FT /id="PRO_0000288555"
FT TOPO_DOM 1..13
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 14..34
FT /note="Helical; Signal-anchor for type II membrane protein"
FT /evidence="ECO:0000255"
FT TOPO_DOM 35..453
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT CARBOHYD 72
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 286
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 73..227
FT /evidence="ECO:0000250"
FT DISULFID 161..382
FT /evidence="ECO:0000250"
FT DISULFID 182..209
FT /evidence="ECO:0000250"
FT DISULFID 391..423
FT /evidence="ECO:0000250"
FT VARIANT 321
FT /note="V -> I (in dbSNP:rs4704166)"
FT /id="VAR_032444"
FT VARIANT 321
FT /note="V -> L (in dbSNP:rs4704166)"
FT /id="VAR_061210"
FT VARIANT 439
FT /note="P -> S (in dbSNP:rs3811987)"
FT /id="VAR_032445"
SQ SEQUENCE 453 AA; 53052 MW; B43794D4427F41CA CRC64;
MKIFKCYFKH TLQQKVFILF LTLWLLSLLK LLNVRRLFPQ KDIYLVEYSL STSPFVRNRY
THVKDEVRYE VNCSGIYEQE PLEIGKSLEI RRRDIIDLED DDVVAMTSDC DIYQTLRGYA
QKLVSKEEKS FPIAYSLVVH KDAIMVERLI HAIYNQHNIY CIHYDRKAPD TFKVAMNNLA
KCFSNIFIAS KLEAVEYAHI SRLQADLNCL SDLLKSSIQW KYVINLCGQD FPLKSNFELV
SELKKLNGAN MLETVKPPNS KLERFTYHHE LRRVPYEYVK LPIRTNISKE APPHNIQIFV
GSAYFVLSQA FVKYIFNNSI VQDFFAWSKD TYSPDEHFWA TLIRVPGIPG EISRSAQDVS
DLQSKTRLVK WNYYEGFFYP SCTGSHLRSV CIYGAAELRW LIKDGHWFAN KFDSKVDPIL
IKCLAEKLEE QQRDWITLPS EKLFMDRNLT TTS
