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Protein

N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase

Gene

GCNT2

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

Functioni

Branching enzyme that converts linear into branched poly-N-acetyllactosaminoglycans. Introduces the blood group I antigen during embryonic development. It is closely associated with the development and maturation of erythroid cells.2 Publications
Isoform C: Determines the expression of the blood group I antigen in erythrocytes.1 Publication

Catalytic activityi

UDP-N-acetyl-alpha-D-glucosamine + beta-D-Gal-(1->4)-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-GlcNAc-R = UDP + beta-D-Gal-(1->4)-beta-D-GlcNAc-(1->3)-(beta-D-GlcNAc-(1->6))-beta-D-Gal-(1->4)-beta-D-GlcNAc-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.

GO - Molecular functioni

  • N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionGlycosyltransferase, Transferase

Enzyme and pathway databases

BioCyciMetaCyc:HS03475-MONOMER
SignaLinkiQ8N0V5
UniPathwayi
UPA00378

Protein family/group databases

CAZyiGT14 Glycosyltransferase Family 14

Names & Taxonomyi

Protein namesi
Recommended name:
N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferaseCurated (EC:2.4.1.150)
Short name:
N-acetylglucosaminyltransferase
Alternative name(s):
I-branching enzyme
IGNT
Gene namesi
Name:GCNT2
Synonyms:GCNT5, II, NACGT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000111846.15
HGNCiHGNC:4204 GCNT2
MIMi600429 gene
neXtProtiNX_Q8N0V5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 7CytoplasmicSequence analysis7
Transmembranei8 – 23Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST16
Topological domaini24 – 400LumenalSequence analysisAdd BLAST377

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Cataract 13, with adult i phenotype (CTRCT13)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT13 is associated with the rare adult i phenotype, in which adult red blood cells are rich in i antigen and contain low levels of I antigen.
See also OMIM:116700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073829350G → E in CTRCT13. 1 PublicationCorresponds to variant dbSNP:rs56141211Ensembl.1
Natural variantiVAR_073830385R → H in CTRCT13. 1 PublicationCorresponds to variant dbSNP:rs55940927Ensembl.1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNETi2651
MalaCardsiGCNT2
MIMi110800 phenotype
116700 phenotype
OpenTargetsiENSG00000111846
PharmGKBiPA169

Polymorphism and mutation databases

BioMutaiCCDC30
STEAP3
TFAP2A
DMDMi543887

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003951191 – 402N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferaseAdd BLAST402

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi41N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ8N0V5
PeptideAtlasiQ8N0V5
PRIDEiQ8N0V5
ProteomicsDBi58445
71468
73347

PTM databases

iPTMnetiQ8N0V5
PhosphoSitePlusiQ8N0V5

Expressioni

Tissue specificityi

Isoform B is expressed in lens epithelium cells. Isoform C is expressed in reticulocytes.2 Publications

Developmental stagei

Expression of isoform B increases dramatically during development and oncogenesis.1 Publication

Gene expression databases

BgeeiENSG00000111846 Expressed in 178 organ(s), highest expression level in endometrium
CleanExiHS_GCNT2
ExpressionAtlasiQ8N0V5 baseline and differential
GenevisibleiQ8N0V5 HS

Organism-specific databases

HPAiHPA026776

Interactioni

Protein-protein interaction databases

BioGridi108921, 10 interactors
IntActiQ8N0V5, 1 interactor
STRINGi9606.ENSP00000265012

Structurei

3D structure databases

ProteinModelPortaliQ8N0V5
SMRiQ8N0V5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

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
InParanoidiQ8N0V5
KOiK00742
OMAiTACNHAL
OrthoDBiEOG091G0HLZ
PhylomeDBiQ8N0V5
TreeFamiTF315534

Family and domain databases

InterProiView protein in InterPro
IPR003406 Glyco_trans_14
PfamiView protein in Pfam
PF02485 Branch, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
Note: Isoforms A, B and C have different exons 1, but identical exons 2 and 3.

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform A (identifier: Q8N0V5-1) [UniParc]FASTAAdd to basket
Also known as: IGnTA, IGNT1

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
        10         20         30         40         50
MMGSWKHCLF SASLISALIF VFVYNTELWE NKRFLRAALS NASLLAEACH
60 70 80 90 100
QIFEGKVFYP TENALKTTLD EATCYEYMVR SHYVTETLSE EEAGFPLAYT
110 120 130 140 150
VTIHKDFGTF ERLFRAIYMP QNVYCVHLDQ KATDAFKGAV KQLLSCFPNA
160 170 180 190 200
FLASKKESVV YGGISRLQAD LNCLEDLVAS EVPWKYVINT CGQDFPLKTN
210 220 230 240 250
REIVQYLKGF KGKNITPGVL PPDHAVGRTK YVHQELLNHK NSYVIKTTKL
260 270 280 290 300
KTPPPHDMVI YFGTAYVALT RDFANFVLQD QLALDLLSWS KDTYSPDEHF
310 320 330 340 350
WVTLNRIPGV PGSMPNASWT GNLRAIKWSD MEDRHGGCHG HYVHGICIYG
360 370 380 390 400
NGDLKWLVNS PSLFANKFEL NTYPLTVECL ELRHRERTLN QSETAIQPSW

YF
Length:402
Mass (Da):45,873
Last modified:October 1, 2002 - v1
Checksum:iFCA6AE905D78D7D5
GO
Isoform B (identifier: Q8N0V5-2) [UniParc]FASTAAdd to basket
Also known as: IGnTB, IGNT2

The sequence of this isoform differs from the canonical sequence as follows:
     1-294: MMGSWKHCLF...DLLSWSKDTY → MPLSMRYLFI...DLLQWSKDTF

Show »
Length:400
Mass (Da):45,855
Checksum:i1469628690A1F43B
GO
Isoform C (identifier: Q8N0V5-3) [UniParc]FASTAAdd to basket
Also known as: IGnTC, IGNT3

The sequence of this isoform differs from the canonical sequence as follows:
     1-308: MMGSWKHCLF...HFWVTLNRIP → MNFWRYCFFA...HFWVTLNRVS

Show »
Length:402
Mass (Da):46,531
Checksum:i7760098081881BD3
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PRW1A0A1W2PRW1_HUMAN
N-acetyllactosaminide beta-1,6-N-ac...
GCNT2
313Annotation score:
B7ZBL3B7ZBL3_HUMAN
N-acetyllactosaminide beta-1,6-N-ac...
GCNT2
116Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti272D → E in AAM73866 (PubMed:12424189).Curated1
Sequence conflicti272D → E in BAC66782 (PubMed:12468428).Curated1
Sequence conflicti272D → E in CAI46081 (PubMed:11230166).Curated1
Sequence conflicti272D → E in BAG36218 (PubMed:14702039).Curated1
Sequence conflicti272D → E in EAW55259 (Ref. 9) Curated1
Sequence conflicti272D → E in AAI30525 (PubMed:15489334).Curated1

Polymorphismi

GCNT2 is involved in determining the blood group I system (Ii) [MIMi:110800]. The i (fetal) and I (adult) antigens are determined by linear and branched poly-N-acetyllactosaminoglycans, respectively. A replacement during development of i by I is dependent on the appearance of a beta-1,6-N-acetylglucosaminyltransferase, the I-branching enzyme. The expression of the blood group I antigen in erythrocytes is determined by isoform C of GCNT2.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073827169A → T Polymorphism wich defines the adult i phenotype. 1 PublicationCorresponds to variant dbSNP:rs137853339EnsemblClinVar.1
Natural variantiVAR_073828228R → Q Polymorphism wich defines the adult i phenotype. 1 PublicationCorresponds to variant dbSNP:rs137853340EnsemblClinVar.1
Natural variantiVAR_073829350G → E in CTRCT13. 1 PublicationCorresponds to variant dbSNP:rs56141211Ensembl.1
Natural variantiVAR_073830385R → H in CTRCT13. 1 PublicationCorresponds to variant dbSNP:rs55940927Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0583471 – 308MMGSW…LNRIP → MNFWRYCFFAFTLLSVVIFV RFYSSQLSPPKSYEKLNSSS ERYFRKTACNHALEKMPVFL WENILPSPLRSVPCKDYLTQ NHYITSPLSEEEAAFPLAYV MVIHKDFDTFERLFRAIYMP QNVYCVHVDEKAPAEYKESV RQLLSCFQNAFIASKTESVV YAGISRLQADLNCLKDLVAS EVPWKYVINTCGQDFPLKTN REIVQHLKGFKGKNITPGVL PPDHAIKRTKYVHQEHTDKG GFFVKNTNILKTSPPHQLTI YFGTAYVALTRDFVDFVLRD QRAIDLLQWSKDTYSPDEHF WVTLNRVS in isoform C. Add BLAST308
Alternative sequenceiVSP_0583481 – 294MMGSW…SKDTY → MPLSMRYLFIISVSSVIIFI VFSVFNFGGDPSFQRLNISD PLRLTQVCTSFINGKTRFLW KNKLMIHEKSSCKEYLTQSH YITAPLSKEEADFPLAYIMV IHHHFDTFARLFRAIYMPQN IYCVHVDEKATTEFKDAVEQ LLSCFPNAFLASKMEPVVYG GISRLQADLNCIRDLSAFEV SWKYVINTCGQDFPLKTNKE IVQYLKGFKGKNITPGVLPP AHAIGRTKYVHQEHLGKELS YVIRTTALKPPPPHNLTIYF GSAYVALSREFANFVLHDPR AVDLLQWSKDTF in isoform B. Add BLAST294

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z19550 mRNA Translation: CAA79610.1
L19659 mRNA Translation: AAA81777.1
L41607, L41605, L41606 Genomic DNA Translation: AAA99832.1
AF458024 mRNA Translation: AAM73864.1
AF458025 mRNA Translation: AAM73865.1
AF458026 mRNA Translation: AAM73866.1
AB078433 mRNA Translation: BAC66782.1
AY435145 mRNA Translation: AAR95646.1
AY435146 mRNA Translation: AAR95647.1
AY435147 mRNA Translation: AAR95648.1
BX647576 mRNA Translation: CAI46081.1
AK090483 mRNA Translation: BAC03464.1
AK291767 mRNA Translation: BAF84456.1
AK313426 mRNA Translation: BAG36218.1
AK313903 mRNA Translation: BAG36626.1
AL139039 Genomic DNA No translation available.
AL358777 Genomic DNA No translation available.
CH471087 Genomic DNA Translation: EAW55259.1
CH471087 Genomic DNA Translation: EAW55260.1
CH471087 Genomic DNA Translation: EAW55262.1
BC074802 mRNA Translation: AAH74802.1
BC074801 mRNA Translation: AAH74801.1
BC130524 mRNA Translation: AAI30525.1
CCDSiCCDS34338.1 [Q8N0V5-1]
CCDS4512.1 [Q8N0V5-2]
CCDS4513.1 [Q8N0V5-3]
PIRiA46297
RefSeqiNP_001482.1, NM_001491.2 [Q8N0V5-2]
NP_663624.1, NM_145649.4 [Q8N0V5-1]
NP_663630.2, NM_145655.3 [Q8N0V5-3]
XP_006715115.1, XM_006715052.3 [Q8N0V5-1]
UniGeneiHs.519884

Genome annotation databases

EnsembliENST00000265012; ENSP00000265012; ENSG00000111846 [Q8N0V5-3]
ENST00000316170; ENSP00000314844; ENSG00000111846 [Q8N0V5-2]
ENST00000379597; ENSP00000368917; ENSG00000111846 [Q8N0V5-1]
ENST00000495262; ENSP00000419411; ENSG00000111846 [Q8N0V5-1]
ENST00000642698; ENSP00000495911; ENSG00000285222 [Q8N0V5-1]
ENST00000643503; ENSP00000493918; ENSG00000285222 [Q8N0V5-2]
ENST00000644083; ENSP00000494927; ENSG00000285222 [Q8N0V5-1]
GeneIDi2651
KEGGihsa:2651
UCSCiuc010joo.4 human [Q8N0V5-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Web resourcesi

Functional Glycomics Gateway - GTase

N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z19550 mRNA Translation: CAA79610.1
L19659 mRNA Translation: AAA81777.1
L41607, L41605, L41606 Genomic DNA Translation: AAA99832.1
AF458024 mRNA Translation: AAM73864.1
AF458025 mRNA Translation: AAM73865.1
AF458026 mRNA Translation: AAM73866.1
AB078433 mRNA Translation: BAC66782.1
AY435145 mRNA Translation: AAR95646.1
AY435146 mRNA Translation: AAR95647.1
AY435147 mRNA Translation: AAR95648.1
BX647576 mRNA Translation: CAI46081.1
AK090483 mRNA Translation: BAC03464.1
AK291767 mRNA Translation: BAF84456.1
AK313426 mRNA Translation: BAG36218.1
AK313903 mRNA Translation: BAG36626.1
AL139039 Genomic DNA No translation available.
AL358777 Genomic DNA No translation available.
CH471087 Genomic DNA Translation: EAW55259.1
CH471087 Genomic DNA Translation: EAW55260.1
CH471087 Genomic DNA Translation: EAW55262.1
BC074802 mRNA Translation: AAH74802.1
BC074801 mRNA Translation: AAH74801.1
BC130524 mRNA Translation: AAI30525.1
CCDSiCCDS34338.1 [Q8N0V5-1]
CCDS4512.1 [Q8N0V5-2]
CCDS4513.1 [Q8N0V5-3]
PIRiA46297
RefSeqiNP_001482.1, NM_001491.2 [Q8N0V5-2]
NP_663624.1, NM_145649.4 [Q8N0V5-1]
NP_663630.2, NM_145655.3 [Q8N0V5-3]
XP_006715115.1, XM_006715052.3 [Q8N0V5-1]
UniGeneiHs.519884

3D structure databases

ProteinModelPortaliQ8N0V5
SMRiQ8N0V5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108921, 10 interactors
IntActiQ8N0V5, 1 interactor
STRINGi9606.ENSP00000265012

Protein family/group databases

CAZyiGT14 Glycosyltransferase Family 14

PTM databases

iPTMnetiQ8N0V5
PhosphoSitePlusiQ8N0V5

Polymorphism and mutation databases

BioMutaiCCDC30
STEAP3
TFAP2A
DMDMi543887

Proteomic databases

EPDiQ8N0V5
PeptideAtlasiQ8N0V5
PRIDEiQ8N0V5
ProteomicsDBi58445
71468
73347

Protocols and materials databases

DNASUi2651
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265012; ENSP00000265012; ENSG00000111846 [Q8N0V5-3]
ENST00000316170; ENSP00000314844; ENSG00000111846 [Q8N0V5-2]
ENST00000379597; ENSP00000368917; ENSG00000111846 [Q8N0V5-1]
ENST00000495262; ENSP00000419411; ENSG00000111846 [Q8N0V5-1]
ENST00000642698; ENSP00000495911; ENSG00000285222 [Q8N0V5-1]
ENST00000643503; ENSP00000493918; ENSG00000285222 [Q8N0V5-2]
ENST00000644083; ENSP00000494927; ENSG00000285222 [Q8N0V5-1]
GeneIDi2651
KEGGihsa:2651
UCSCiuc010joo.4 human [Q8N0V5-1]

Organism-specific databases

CTDi2651
DisGeNETi2651
EuPathDBiHostDB:ENSG00000111846.15
GeneCardsiGCNT2
HGNCiHGNC:4204 GCNT2
HPAiHPA026776
MalaCardsiGCNT2
MIMi110800 phenotype
116700 phenotype
600429 gene
neXtProtiNX_Q8N0V5
OpenTargetsiENSG00000111846
PharmGKBiPA169
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0799 Eukaryota
ENOG410XQ7M LUCA
GeneTreeiENSGT00760000119183
HOGENOMiHOG000293251
HOVERGENiHBG051711
InParanoidiQ8N0V5
KOiK00742
OMAiTACNHAL
OrthoDBiEOG091G0HLZ
PhylomeDBiQ8N0V5
TreeFamiTF315534

Enzyme and pathway databases

UniPathwayi
UPA00378

BioCyciMetaCyc:HS03475-MONOMER
SignaLinkiQ8N0V5

Miscellaneous databases

ChiTaRSiGCNT2 human
GeneWikiiGCNT2
GenomeRNAii2651
PROiPR:Q8N0V5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000111846 Expressed in 178 organ(s), highest expression level in endometrium
CleanExiHS_GCNT2
ExpressionAtlasiQ8N0V5 baseline and differential
GenevisibleiQ8N0V5 HS

Family and domain databases

InterProiView protein in InterPro
IPR003406 Glyco_trans_14
PfamiView protein in Pfam
PF02485 Branch, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGNT2A_HUMAN
AccessioniPrimary (citable) accession number: Q8N0V5
Secondary accession number(s): Q06430
, Q5T4J1, Q5W0E9, Q6T5E5, Q8NFS9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 15, 2010
Last sequence update: October 1, 2002
Last modified: October 10, 2018
This is version 113 of the entry and version 1 of the sequence. See 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 6
    Human chromosome 6: 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. SIMILARITY comments
    Index of protein domains and families
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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