Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

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

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. The expression of the blood group I antigen in erythrocytes is determined by isoform C.

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

  • maintenance of lens transparency Source: UniProtKB
  • 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

SignaLinkiQ8N0V5.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT14. Glycosyltransferase Family 14.

Names & Taxonomyi

Protein namesi
Recommended name:
N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform A (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

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
VAR_073829
Natural varianti385 – 3851R → H in CTRCT13. 1 Publication
VAR_073830

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiTFAP2A.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 402402N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform APRO_0000395119Add
BLAST

Amino acid modifications

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

Keywords - PTMi

Glycoprotein

Proteomic databases

PRIDEiQ8N0V5.

Expressioni

Tissue specificityi

Isoform B is expressed in lens epithelium cells. Isoform C is expressed in reticulocytes.1 Publication

Gene expression databases

BgeeiQ8N0V5.
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

GeneTreeiENSGT00760000119183.
HOGENOMiHOG000293251.
HOVERGENiHBG051711.
InParanoidiQ8N0V5.
PhylomeDBiQ8N0V5.
TreeFamiTF315534.

Family and domain databases

InterProiIPR003406. Glyco_trans_14.
IPR026603. N-AclacN_B-1_3-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: Q06430-1) [UniParc]FASTAAdd to basket

Also known as: IGNTB, IGNT2

The sequence of this isoform can be found in the external entry Q06430.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Note: Expressed in lens epithelium cells.
Length:400
Mass (Da):45,855
GO
Isoform C (identifier: Q8NFS9-1) [UniParc]FASTAAdd to basket

Also known as: IGNTC, IGNT3

The sequence of this isoform can be found in the external entry Q8NFS9.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Note: Expressed in reticulocytes. This isoform determines the expression of the blood group I antigen in erythrocytes.
Length:402
Mass (Da):46,531
GO

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
VAR_073827
Natural varianti228 – 2281R → Q Polymorphism wich defines the adult i phenotype. 1 Publication
VAR_073828
Natural varianti350 – 3501G → E in CTRCT13. 1 Publication
VAR_073829
Natural varianti385 – 3851R → H in CTRCT13. 1 Publication
VAR_073830

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF458024 mRNA. Translation: AAM73864.1.
AY435145 mRNA. Translation: AAR95646.1.
AK090483 mRNA. Translation: BAC03464.1.
AK291767 mRNA. Translation: BAF84456.1.
AL139039, AL358777 Genomic DNA. Translation: CAQ52588.1.
AL358777, AL139039 Genomic DNA. Translation: CAQ52597.1.
CH471087 Genomic DNA. Translation: EAW55262.1.
CCDSiCCDS34338.1. [Q8N0V5-1]
RefSeqiNP_663624.1. NM_145649.4. [Q8N0V5-1]
XP_006715115.1. XM_006715052.2. [Q8N0V5-1]
UniGeneiHs.519884.

Genome annotation databases

EnsembliENST00000379597; ENSP00000368917; ENSG00000111846. [Q8N0V5-1]
ENST00000495262; ENSP00000419411; ENSG00000111846. [Q8N0V5-1]
GeneIDi2651.
UCSCiuc010joo.4. human. [Q8N0V5-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF458024 mRNA. Translation: AAM73864.1.
AY435145 mRNA. Translation: AAR95646.1.
AK090483 mRNA. Translation: BAC03464.1.
AK291767 mRNA. Translation: BAF84456.1.
AL139039, AL358777 Genomic DNA. Translation: CAQ52588.1.
AL358777, AL139039 Genomic DNA. Translation: CAQ52597.1.
CH471087 Genomic DNA. Translation: EAW55262.1.
CCDSiCCDS34338.1. [Q8N0V5-1]
RefSeqiNP_663624.1. NM_145649.4. [Q8N0V5-1]
XP_006715115.1. XM_006715052.2. [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.

Polymorphism and mutation databases

BioMutaiTFAP2A.

Proteomic databases

PRIDEiQ8N0V5.

Protocols and materials databases

DNASUi2651.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000379597; ENSP00000368917; ENSG00000111846. [Q8N0V5-1]
ENST00000495262; ENSP00000419411; ENSG00000111846. [Q8N0V5-1]
GeneIDi2651.
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

GeneTreeiENSGT00760000119183.
HOGENOMiHOG000293251.
HOVERGENiHBG051711.
InParanoidiQ8N0V5.
PhylomeDBiQ8N0V5.
TreeFamiTF315534.

Enzyme and pathway databases

UniPathwayiUPA00378.
SignaLinkiQ8N0V5.

Miscellaneous databases

ChiTaRSiGCNT2. human.
GenomeRNAii2651.
NextBioi10472.
SOURCEiSearch...

Gene expression databases

BgeeiQ8N0V5.
ExpressionAtlasiQ8N0V5. baseline and differential.
GenevisibleiQ8N0V5. HS.

Family and domain databases

InterProiIPR003406. Glyco_trans_14.
IPR026603. N-AclacN_B-1_3-N-AclacNTrfase.
[Graphical view]
PANTHERiPTHR19297:SF78. PTHR19297:SF78. 1 hit.
PfamiPF02485. Branch. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts."
    Yu L.C., Twu Y.C., Chou M.L., Reid M.E., Gray A.R., Moulds J.M., Chang C.Y., Lin M.
    Blood 101:2081-2088(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING, TISSUE SPECIFICITY, VARIANTS THR-169 AND GLN-228.
    Tissue: Prostate.
  2. "Multiple variable first exons: a mechanism for cell- and tissue-specific gene regulation."
    Zhang T., Haws P., Wu Q.
    Genome Res. 14:79-89(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Tissue: Brain.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen."
    Yu L.C., Twu Y.C., Chang C.Y., Lin M.
    Blood 98:3840-3845(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CTRCT13, VARIANTS CTRCT13 GLU-350 AND HIS-385.

Entry informationi

Entry nameiGNT2A_HUMAN
AccessioniPrimary (citable) accession number: Q8N0V5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 15, 2010
Last sequence update: October 1, 2002
Last modified: March 16, 2016
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

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.