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Q06430 (GNT2B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 123. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform B

Short name=N-acetylglucosaminyltransferase
EC=2.4.1.150
Alternative name(s):
I-branching enzyme
IGNT
Gene names
Name:GCNT2
Synonyms:GCNT5, II, NACGT1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length400 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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 activity

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.

Pathway

Protein modification; protein glycosylation.

Subcellular location

Golgi apparatus membrane; Single-pass type II membrane protein.

Tissue specificity

In the adult, highly expressed in prostate and to a lesser extent in small intestine and colon. Barely detected in heart, brain, kidney and pancreas. No expression in placenta, lung, liver, skeletal muscle, spleen, thymus, testis, ovary and peripheral blood leukocytes. In fetus, highly expressed in brain and to a lesser extent in lung and kidney. Barely detected in liver. Ref.3 Ref.9

Developmental stage

Its expression increases dramatically during development and oncogenesis.

Polymorphism

GCNT2 is involved in determining the blood group I system (Ii) [MIM: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 similarities

Belongs to the glycosyltransferase 14 family.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Note: Isoforms A, B and C have different exons 1, but identical exons 2 and 3.
Isoform B (identifier: Q06430-1)

Also known as: IGNTB; IGNT2;

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.
Note: Expressed in lens epithelium cells.
Isoform A (identifier: Q8N0V5-1)

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.
Isoform C (identifier: Q8NFS9-1)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 400400N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform B
PRO_0000191397

Regions

Topological domain1 – 66Cytoplasmic Potential
Transmembrane7 – 2519Helical; Signal-anchor for type II membrane protein; Potential
Topological domain26 – 400375Lumenal Potential

Amino acid modifications

Glycosylation371N-linked (GlcNAc...) Potential
Glycosylation2551N-linked (GlcNAc...) Potential
Glycosylation3141N-linked (GlcNAc...) Potential
Glycosylation3881N-linked (GlcNAc...) Potential

Natural variations

Natural variant851P → R.
Corresponds to variant rs17637756 [ dbSNP | Ensembl ].
VAR_049323

Sequences

Sequence LengthMass (Da)Tools
Isoform B (IGNTB) (IGNT2) [UniParc].

Last modified June 1, 1994. Version 1.
Checksum: 1469628690A1F43B

FASTA40045,855
        10         20         30         40         50         60 
MPLSMRYLFI ISVSSVIIFI VFSVFNFGGD PSFQRLNISD PLRLTQVCTS FINGKTRFLW 

        70         80         90        100        110        120 
KNKLMIHEKS SCKEYLTQSH YITAPLSKEE ADFPLAYIMV IHHHFDTFAR LFRAIYMPQN 

       130        140        150        160        170        180 
IYCVHVDEKA TTEFKDAVEQ LLSCFPNAFL ASKMEPVVYG GISRLQADLN CIRDLSAFEV 

       190        200        210        220        230        240 
SWKYVINTCG QDFPLKTNKE IVQYLKGFKG KNITPGVLPP AHAIGRTKYV HQEHLGKELS 

       250        260        270        280        290        300 
YVIRTTALKP PPPHNLTIYF GSAYVALSRE FANFVLHDPR AVDLLQWSKD TFSPDEHFWV 

       310        320        330        340        350        360 
TLNRIPGVPG SMPNASWTGN LRAIKWSDME DRHGGCHGHY VHGICIYGNG DLKWLVNSPS 

       370        380        390        400 
LFANKFELNT YPLTVECLEL RHRERTLNQS ETAIQPSWYF 

« Hide

Isoform A (IGNTA) (IGNT1) [UniParc].

See Q8N0V5.

Isoform C (IGNTC) (IGNT3) [UniParc].

See Q8NFS9.

References

« Hide 'large scale' references
[1]"Expression of the developmental I antigen by a cloned human cDNA encoding a member of a beta-1,6-N-acetylglucosaminyltransferase gene family."
Bierhuizen M.F.A., Mattei M.-G., Fukuda M.
Genes Dev. 7:468-478(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Embryonic carcinoma.
[2]"Genomic organization of core 2 and I branching beta-1,6-N-acetylglucosaminyltransferases. Implication for evolution of the beta-1,6-N-acetylglucosaminyltransferase gene family."
Bierhuizen M.F.A., Maemura K., Kudo S., Fukuda M.
Glycobiology 5:417-425(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Tissue: Placenta.
[3]"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.
[4]"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].
[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. expand/collapse author list , 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].
[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. expand/collapse author list , 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.
[7]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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].
Tissue: Lung.
[9]"Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis."
Sasaki K., Kurata-Miura K., Ujita M., Angata K., Nakagawa S., Sekine S., Nishi T., Fukuda M.
Proc. Natl. Acad. Sci. U.S.A. 94:14294-14299(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
+Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

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

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
L19659 mRNA. Translation: AAA81777.1.
L41607, L41605, L41606 Genomic DNA. Translation: AAA99832.1.
Z19550 mRNA. Translation: CAA79610.1.
AF458025 mRNA. Translation: AAM73865.1.
AY435146 mRNA. Translation: AAR95647.1.
AK313903 mRNA. Translation: BAG36626.1.
AL139039, AL358777 Genomic DNA. Translation: CAH73010.1.
AL358777, AL139039 Genomic DNA. Translation: CAI13999.1.
CH471087 Genomic DNA. Translation: EAW55260.1.
BC074801 mRNA. Translation: AAH74801.1.
BC074802 mRNA. Translation: AAH74802.1.
CCDSCCDS4512.1. [Q06430-1]
PIRA46297.
RefSeqNP_001482.1. NM_001491.2. [Q06430-1]
UniGeneHs.519884.

3D structure databases

ProteinModelPortalQ06430.
SMRQ06430. Positions 55-387.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108921. 1 interaction.
STRING9606.ENSP00000265012.

Protein family/group databases

CAZyGT14. Glycosyltransferase Family 14.

PTM databases

PhosphoSiteQ06430.

Polymorphism databases

DMDM543887.

Proteomic databases

PRIDEQ06430.

Protocols and materials databases

DNASU2651.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000316170; ENSP00000314844; ENSG00000111846. [Q06430-1]
GeneID2651.
KEGGhsa:2651.
UCSCuc003mzd.3. human. [Q06430-1]

Organism-specific databases

CTD2651.
GeneCardsGC06P010492.
HGNCHGNC:4204. GCNT2.
MIM110800. phenotype.
600429. gene.
neXtProtNX_Q06430.
PharmGKBPA169.
GenAtlasSearch...

Phylogenomic databases

HOGENOMHOG000293251.
HOVERGENHBG051711.
KOK00742.
OMAAITSHAY.

Enzyme and pathway databases

BioCycMetaCyc:HS03475-MONOMER.
SignaLinkQ06430.
UniPathwayUPA00378.

Gene expression databases

ArrayExpressQ06430.
BgeeQ06430.
CleanExHS_GCNT2.
GenevestigatorQ06430.

Family and domain databases

InterProIPR003406. Glyco_trans_14.
[Graphical view]
PfamPF02485. Branch. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSGCNT2. human.
GeneWikiGCNT2.
GenomeRNAi2651.
NextBio10472.
PROQ06430.
SOURCESearch...

Entry information

Entry nameGNT2B_HUMAN
AccessionPrimary (citable) accession number: Q06430
Secondary accession number(s): Q5W0E9
Entry history
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: July 9, 2014
This is version 123 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM