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Protein

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

Gene

GCNT2

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

GO - Molecular functioni

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

GO - Biological processi

  1. maintenance of lens transparency Source: UniProtKB
  2. negative regulation of cell-substrate adhesion Source: UniProtKB
  3. positive regulation of cell migration Source: UniProtKB
  4. positive regulation of cell proliferation Source: UniProtKB
  5. positive regulation of epithelial to mesenchymal transition Source: UniProtKB
  6. positive regulation of ERK1 and ERK2 cascade Source: UniProtKB
  7. positive regulation of heterotypic cell-cell adhesion Source: UniProtKB
  8. positive regulation of protein kinase B signaling Source: UniProtKB
  9. posttranscriptional regulation of gene expression Source: UniProtKB
  10. protein glycosylation Source: UniProtKB
  11. transforming growth factor beta receptor signaling pathway Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

SignaLinkiQ8NFS9.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT14. Glycosyltransferase Family 14.

Names & Taxonomyi

Protein namesi
Recommended name:
N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform C (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
ProteomesiUP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:4204. GCNT2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 66CytoplasmicSequence Analysis
Transmembranei7 – 2014Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST
Topological domaini21 – 400380LumenalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. Golgi membrane Source: UniProtKB-SubCell
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

MIMi110800. phenotype.
PharmGKBiPA169.

Polymorphism and mutation databases

BioMutaiSTEAP3.
DMDMi298351849.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 402402N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform CPRO_0000395120Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi37 – 371N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ8NFS9.
PRIDEiQ8NFS9.

Expressioni

Gene expression databases

BgeeiQ8NFS9.
ExpressionAtlasiQ8NFS9. baseline and differential.

Organism-specific databases

HPAiHPA026776.

Interactioni

Protein-protein interaction databases

BioGridi108921. 9 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ8NFS9.
SMRiQ8NFS9. 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.
KOiK00742.
OMAiYCFFAFT.
PhylomeDBiQ8NFS9.

Family and domain databases

InterProiIPR003406. Glyco_trans_14.
[Graphical view]
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 C (identifier: Q8NFS9-1) [UniParc]FASTAAdd to basket

Also known as: IGNTC, IGNT3

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
MNFWRYCFFA FTLLSVVIFV RFYSSQLSPP KSYEKLNSSS ERYFRKTACN
60 70 80 90 100
HALEKMPVFL WENILPSPLR SVPCKDYLTQ NHYITSPLSE EEAAFPLAYV
110 120 130 140 150
MVIHKDFDTF ERLFRAIYMP QNVYCVHVDE KAPAEYKESV RQLLSCFQNA
160 170 180 190 200
FIASKTESVV YAGISRLQAD LNCLKDLVAS EVPWKYVINT CGQDFPLKTN
210 220 230 240 250
REIVQHLKGF KGKNITPGVL PPDHAIKRTK YVHQEHTDKG GFFVKNTNIL
260 270 280 290 300
KTSPPHQLTI YFGTAYVALT RDFVDFVLRD QRAIDLLQWS KDTYSPDEHF
310 320 330 340 350
WVTLNRVSGV PGSMPNASWT GNLRAIKWSD MEDRHGGCHG HYVHGICIYG
360 370 380 390 400
NGDLKWLVNS PSLFANKFEL NTYPLTVECL ELRHRERTLN QSETAIQPSW

YF

Note: Expressed in reticulocytes. This isoform determines the expression of the blood group I antigen in erythrocytes.

Length:402
Mass (Da):46,531
Last modified:June 15, 2010 - v2
Checksum:i7760098081881BD3
GO
Isoform A (identifier: Q8N0V5-1) [UniParc]FASTAAdd to basket

Also known as: IGNTA, IGNT1

The sequence of this isoform can be found in the external entry Q8N0V5.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:402
Mass (Da):45,873
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

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. 7) 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.

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF458026 mRNA. Translation: AAM73866.1.
AB078433 mRNA. Translation: BAC66782.1.
AY435147 mRNA. Translation: AAR95648.1.
BX647576 mRNA. Translation: CAI46081.1.
AK313426 mRNA. Translation: BAG36218.1.
AL358777 Genomic DNA. Translation: CAI13997.2.
CH471087 Genomic DNA. Translation: EAW55259.1.
BC130524 mRNA. Translation: AAI30525.1.
CCDSiCCDS4513.1. [Q8NFS9-1]
RefSeqiNP_001482.1. NM_001491.2.
NP_663630.2. NM_145655.3. [Q8NFS9-1]
UniGeneiHs.519884.

Genome annotation databases

EnsembliENST00000265012; ENSP00000265012; ENSG00000111846. [Q8NFS9-1]
GeneIDi2651.
KEGGihsa:2651.
UCSCiuc003mze.3. human. [Q8NFS9-1]

Polymorphism and mutation databases

BioMutaiSTEAP3.

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
AF458026 mRNA. Translation: AAM73866.1.
AB078433 mRNA. Translation: BAC66782.1.
AY435147 mRNA. Translation: AAR95648.1.
BX647576 mRNA. Translation: CAI46081.1.
AK313426 mRNA. Translation: BAG36218.1.
AL358777 Genomic DNA. Translation: CAI13997.2.
CH471087 Genomic DNA. Translation: EAW55259.1.
BC130524 mRNA. Translation: AAI30525.1.
CCDSiCCDS4513.1. [Q8NFS9-1]
RefSeqiNP_001482.1. NM_001491.2.
NP_663630.2. NM_145655.3. [Q8NFS9-1]
UniGeneiHs.519884.

3D structure databases

ProteinModelPortaliQ8NFS9.
SMRiQ8NFS9. Positions 74-389.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108921. 9 interactions.

Protein family/group databases

CAZyiGT14. Glycosyltransferase Family 14.

Polymorphism and mutation databases

BioMutaiSTEAP3.
DMDMi298351849.

Proteomic databases

MaxQBiQ8NFS9.
PRIDEiQ8NFS9.

Protocols and materials databases

DNASUi2651.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265012; ENSP00000265012; ENSG00000111846. [Q8NFS9-1]
GeneIDi2651.
KEGGihsa:2651.
UCSCiuc003mze.3. human. [Q8NFS9-1]

Organism-specific databases

CTDi2651.
GeneCardsiGC06P010492.
HGNCiHGNC:4204. GCNT2.
HPAiHPA026776.
MIMi110800. phenotype.
600429. gene.
neXtProtiNX_Q8NFS9.
PharmGKBiPA169.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00760000119183.
HOGENOMiHOG000293251.
HOVERGENiHBG051711.
KOiK00742.
OMAiYCFFAFT.
PhylomeDBiQ8NFS9.

Enzyme and pathway databases

UniPathwayiUPA00378.
SignaLinkiQ8NFS9.

Miscellaneous databases

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

Gene expression databases

BgeeiQ8NFS9.
ExpressionAtlasiQ8NFS9. baseline and differential.

Family and domain databases

InterProiIPR003406. Glyco_trans_14.
[Graphical view]
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.
  2. "A novel I-branching beta-1,6-N-acetylglucosaminyltransferase involved in human blood group I antigen expression."
    Inaba N., Hiruma T., Togayachi A., Iwasaki H., Wang X.H., Furukawa Y., Sumi R., Kudo T., Fujimura K., Iwai T., Gotoh M., Nakamura M., Narimatsu H.
    Blood 101:2870-2876(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
  3. "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].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Fetal skin.
  5. "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].
    Tissue: Cerebellum.
  6. "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].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "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].

Entry informationi

Entry nameiGNT2C_HUMAN
AccessioniPrimary (citable) accession number: Q8NFS9
Secondary accession number(s): Q5T4J1, Q6T5E5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 15, 2010
Last sequence update: June 15, 2010
Last modified: April 29, 2015
This is version 78 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 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.