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Protein

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

Gene

GCNT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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-D-glucosamine + beta-D-galactosyl-1,4-N-acetyl-D-glucosaminyl-R = UDP + N-acetyl-beta-D-glucosaminyl-1,6-beta-D-galactosyl-1,4-N-acetyl-D-glucosaminyl-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

GO - Biological processi

  • glycosaminoglycan biosynthetic process Source: ProtInc
  • maintenance of lens transparency Source: UniProtKB
  • multicellular organism development Source: ProtInc
  • negative regulation of cell-substrate adhesion Source: UniProtKB
  • positive regulation of cell migration Source: UniProtKB
  • positive regulation of cell proliferation Source: UniProtKB
  • positive regulation of epithelial to mesenchymal transition Source: UniProtKB
  • positive regulation of ERK1 and ERK2 cascade Source: UniProtKB
  • positive regulation of heterotypic cell-cell adhesion Source: UniProtKB
  • positive regulation of protein kinase B signaling Source: UniProtKB
  • posttranscriptional regulation of gene expression Source: UniProtKB
  • protein glycosylation Source: UniProtKB
  • transforming growth factor beta receptor signaling pathway Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

BioCyciMetaCyc:HS03475-MONOMER.
SignaLinkiQ8N0V5.
UniPathwayiUPA00378.

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

HGNCiHGNC:4204. GCNT2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 77CytoplasmicSequence analysis
Transmembranei8 – 2316Helical; Signal-anchor for type II membrane proteinSequence analysisAdd
BLAST
Topological domaini24 – 400377LumenalSequence analysisAdd
BLAST

GO - Cellular componenti

  • Golgi membrane Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB-KW
  • membrane Source: ProtInc
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti350 – 3501G → E in CTRCT13. 1 Publication
Corresponds to variant rs56141211 [ dbSNP | Ensembl ].
VAR_073829
Natural varianti385 – 3851R → H in CTRCT13. 1 Publication
Corresponds to variant rs55940927 [ dbSNP | Ensembl ].
VAR_073830

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

MalaCardsiGCNT2.
MIMi110800. phenotype.
116700. phenotype.
PharmGKBiPA169.

Polymorphism and mutation databases

BioMutaiCCDC30.
STEAP3.
TFAP2A.
DMDMi298351849.
543887.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 402402N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferasePRO_0000395119Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi41 – 411N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ8N0V5.
PaxDbiQ8NFS9.
PeptideAtlasiQ8N0V5.
PRIDEiQ8N0V5.

PTM databases

PhosphoSiteiQ8N0V5.

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.
CleanExiHS_GCNT2.
ExpressionAtlasiQ8N0V5. baseline and differential.
GenevisibleiQ8N0V5. HS.

Interactioni

Protein-protein interaction databases

BioGridi108921. 9 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ8N0V5.
SMRiQ8N0V5. Positions 74-389.
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

InterProiIPR003406. Glyco_trans_14.
IPR026603. N-AclacN_B-1_6-N-AclacNTrfase.
[Graphical view]
PANTHERiPTHR19297:SF78. PTHR19297:SF78. 1 hit.
PfamiPF02485. Branch. 1 hit.
[Graphical view]

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.
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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti272 – 2721D → E in AAM73866 (PubMed:12424189).Curated
Sequence conflicti272 – 2721D → E in BAC66782 (PubMed:12468428).Curated
Sequence conflicti272 – 2721D → E in CAI46081 (PubMed:11230166).Curated
Sequence conflicti272 – 2721D → E in BAG36218 (PubMed:14702039).Curated
Sequence conflicti272 – 2721D → E in EAW55259 (Ref. 9) Curated
Sequence conflicti272 – 2721D → E in AAI30525 (PubMed:15489334).Curated

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti169 – 1691A → T Polymorphism wich defines the adult i phenotype. 1 Publication
Corresponds to variant rs137853339 [ dbSNP | Ensembl ].
VAR_073827
Natural varianti228 – 2281R → Q Polymorphism wich defines the adult i phenotype. 1 Publication
Corresponds to variant rs137853340 [ dbSNP | Ensembl ].
VAR_073828
Natural varianti350 – 3501G → E in CTRCT13. 1 Publication
Corresponds to variant rs56141211 [ dbSNP | Ensembl ].
VAR_073829
Natural varianti385 – 3851R → H in CTRCT13. 1 Publication
Corresponds to variant rs55940927 [ dbSNP | Ensembl ].
VAR_073830

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 308308MMGSW…LNRIP → MNFWRYCFFAFTLLSVVIFV RFYSSQLSPPKSYEKLNSSS ERYFRKTACNHALEKMPVFL WENILPSPLRSVPCKDYLTQ NHYITSPLSEEEAAFPLAYV MVIHKDFDTFERLFRAIYMP QNVYCVHVDEKAPAEYKESV RQLLSCFQNAFIASKTESVV YAGISRLQADLNCLKDLVAS EVPWKYVINTCGQDFPLKTN REIVQHLKGFKGKNITPGVL PPDHAIKRTKYVHQEHTDKG GFFVKNTNILKTSPPHQLTI YFGTAYVALTRDFVDFVLRD QRAIDLLQWSKDTYSPDEHF WVTLNRVS in isoform C. VSP_058347Add
BLAST
Alternative sequencei1 – 294294MMGSW…SKDTY → MPLSMRYLFIISVSSVIIFI VFSVFNFGGDPSFQRLNISD PLRLTQVCTSFINGKTRFLW KNKLMIHEKSSCKEYLTQSH YITAPLSKEEADFPLAYIMV IHHHFDTFARLFRAIYMPQN IYCVHVDEKATTEFKDAVEQ LLSCFPNAFLASKMEPVVYG GISRLQADLNCIRDLSAFEV SWKYVINTCGQDFPLKTNKE IVQYLKGFKGKNITPGVLPP AHAIGRTKYVHQEHLGKELS YVIRTTALKPPPPHNLTIYF GSAYVALSREFANFVLHDPR AVDLLQWSKDTF in isoform B. VSP_058348Add
BLAST

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, AL358777 Genomic DNA. Translation: CAH73010.1.
AL358777 Genomic DNA. Translation: CAI13997.2.
AL358777, AL139039 Genomic DNA. Translation: CAI13999.1.
AL139039, AL358777 Genomic DNA. Translation: CAQ52588.1.
AL358777, AL139039 Genomic DNA. Translation: CAQ52597.1.
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]
GeneIDi2651.
KEGGihsa:2651.
UCSCiuc010joo.4. human. [Q8N0V5-1]

Keywords - Coding sequence diversityi

Alternative splicing

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, AL358777 Genomic DNA. Translation: CAH73010.1.
AL358777 Genomic DNA. Translation: CAI13997.2.
AL358777, AL139039 Genomic DNA. Translation: CAI13999.1.
AL139039, AL358777 Genomic DNA. Translation: CAQ52588.1.
AL358777, AL139039 Genomic DNA. Translation: CAQ52597.1.
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. Positions 74-389.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108921. 9 interactions.

Protein family/group databases

CAZyiGT14. Glycosyltransferase Family 14.

PTM databases

PhosphoSiteiQ8N0V5.

Polymorphism and mutation databases

BioMutaiCCDC30.
STEAP3.
TFAP2A.
DMDMi298351849.
543887.

Proteomic databases

EPDiQ8N0V5.
PaxDbiQ8NFS9.
PeptideAtlasiQ8N0V5.
PRIDEiQ8N0V5.

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]
GeneIDi2651.
KEGGihsa:2651.
UCSCiuc010joo.4. human. [Q8N0V5-1]

Organism-specific databases

CTDi2651.
GeneCardsiGCNT2.
HGNCiHGNC:4204. GCNT2.
MalaCardsiGCNT2.
MIMi110800. phenotype.
116700. phenotype.
600429. gene.
neXtProtiNX_Q8N0V5.
PharmGKBiPA169.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

UniPathwayiUPA00378.
BioCyciMetaCyc:HS03475-MONOMER.
SignaLinkiQ8N0V5.

Miscellaneous databases

ChiTaRSiGCNT2. human.
GeneWikiiGCNT2.
GenomeRNAii2651.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000111846.
CleanExiHS_GCNT2.
ExpressionAtlasiQ8N0V5. baseline and differential.
GenevisibleiQ8N0V5. HS.

Family and domain databases

InterProiIPR003406. Glyco_trans_14.
IPR026603. N-AclacN_B-1_6-N-AclacNTrfase.
[Graphical view]
PANTHERiPTHR19297:SF78. PTHR19297:SF78. 1 hit.
PfamiPF02485. Branch. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGNT2A_HUMAN
AccessioniPrimary (citable) accession number: Q8N0V5
Secondary accession number(s): Q06430
, Q5T4J1, Q5W0E9, Q6T5E5, Q8NFS9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 15, 2010
Last sequence update: October 1, 2002
Last modified: September 7, 2016
This is version 96 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

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. 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.