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Protein

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

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: ProtInc

GO - Biological processi

  1. glycosaminoglycan biosynthetic process Source: ProtInc
  2. multicellular organismal development Source: ProtInc
  3. protein glycosylation Source: UniProtKB-UniPathway
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

BioCyciMetaCyc:HS03475-MONOMER.
SignaLinkiQ06430.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT14. Glycosyltransferase Family 14.

Names & Taxonomyi

Protein namesi
Recommended name:
N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform B (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 – 2519Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST
Topological domaini26 – 400375LumenalSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

MIMi110800. phenotype.
PharmGKBiPA169.

Polymorphism and mutation databases

BioMutaiCCDC30.
DMDMi543887.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 400400N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform BPRO_0000191397Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi37 – 371N-linked (GlcNAc...)Sequence Analysis
Glycosylationi255 – 2551N-linked (GlcNAc...)Sequence Analysis
Glycosylationi314 – 3141N-linked (GlcNAc...)Sequence Analysis
Glycosylationi388 – 3881N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PRIDEiQ06430.

PTM databases

PhosphoSiteiQ06430.

Expressioni

Tissue specificityi

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.2 Publications

Developmental stagei

Its expression increases dramatically during development and oncogenesis.

Gene expression databases

BgeeiQ06430.
CleanExiHS_GCNT2.
ExpressionAtlasiQ06430. baseline and differential.
GenevestigatoriQ06430.

Interactioni

Protein-protein interaction databases

BioGridi108921. 9 interactions.
STRINGi9606.ENSP00000265012.

Structurei

3D structure databases

ProteinModelPortaliQ06430.
SMRiQ06430. Positions 55-387.
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.

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 B (identifier: Q06430-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MPLSMRYLFI ISVSSVIIFI VFSVFNFGGD PSFQRLNISD PLRLTQVCTS
60 70 80 90 100
FINGKTRFLW KNKLMIHEKS SCKEYLTQSH YITAPLSKEE ADFPLAYIMV
110 120 130 140 150
IHHHFDTFAR LFRAIYMPQN IYCVHVDEKA TTEFKDAVEQ LLSCFPNAFL
160 170 180 190 200
ASKMEPVVYG GISRLQADLN CIRDLSAFEV SWKYVINTCG QDFPLKTNKE
210 220 230 240 250
IVQYLKGFKG KNITPGVLPP AHAIGRTKYV HQEHLGKELS YVIRTTALKP
260 270 280 290 300
PPPHNLTIYF GSAYVALSRE FANFVLHDPR AVDLLQWSKD TFSPDEHFWV
310 320 330 340 350
TLNRIPGVPG SMPNASWTGN LRAIKWSDME DRHGGCHGHY VHGICIYGNG
360 370 380 390 400
DLKWLVNSPS LFANKFELNT YPLTVECLEL RHRERTLNQS ETAIQPSWYF

Note: Expressed in lens epithelium cells.

Length:400
Mass (Da):45,855
Last modified:June 1, 1994 - v1
Checksum:i1469628690A1F43B
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 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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti85 – 851P → R.
Corresponds to variant rs17637756 [ dbSNP | Ensembl ].
VAR_049323

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS4512.1. [Q06430-1]
PIRiA46297.
RefSeqiNP_001482.1. NM_001491.2. [Q06430-1]
UniGeneiHs.519884.

Genome annotation databases

EnsembliENST00000316170; ENSP00000314844; ENSG00000111846. [Q06430-1]
GeneIDi2651.
KEGGihsa:2651.
UCSCiuc003mzd.3. human. [Q06430-1]

Polymorphism and mutation databases

BioMutaiCCDC30.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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
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.
CCDSiCCDS4512.1. [Q06430-1]
PIRiA46297.
RefSeqiNP_001482.1. NM_001491.2. [Q06430-1]
UniGeneiHs.519884.

3D structure databases

ProteinModelPortaliQ06430.
SMRiQ06430. Positions 55-387.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108921. 9 interactions.
STRINGi9606.ENSP00000265012.

Protein family/group databases

CAZyiGT14. Glycosyltransferase Family 14.

PTM databases

PhosphoSiteiQ06430.

Polymorphism and mutation databases

BioMutaiCCDC30.
DMDMi543887.

Proteomic databases

PRIDEiQ06430.

Protocols and materials databases

DNASUi2651.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000316170; ENSP00000314844; ENSG00000111846. [Q06430-1]
GeneIDi2651.
KEGGihsa:2651.
UCSCiuc003mzd.3. human. [Q06430-1]

Organism-specific databases

CTDi2651.
GeneCardsiGC06P010492.
HGNCiHGNC:4204. GCNT2.
MIMi110800. phenotype.
600429. gene.
neXtProtiNX_Q06430.
PharmGKBiPA169.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00760000119183.
HOGENOMiHOG000293251.
HOVERGENiHBG051711.
KOiK00742.

Enzyme and pathway databases

UniPathwayiUPA00378.
BioCyciMetaCyc:HS03475-MONOMER.
SignaLinkiQ06430.

Miscellaneous databases

ChiTaRSiGCNT2. human.
GeneWikiiGCNT2.
GenomeRNAii2651.
NextBioi10472.
PROiQ06430.
SOURCEiSearch...

Gene expression databases

BgeeiQ06430.
CleanExiHS_GCNT2.
ExpressionAtlasiQ06430. baseline and differential.
GenevestigatoriQ06430.

Family and domain databases

InterProiIPR003406. Glyco_trans_14.
[Graphical view]
PfamiPF02485. Branch. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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.

Entry informationi

Entry nameiGNT2B_HUMAN
AccessioniPrimary (citable) accession number: Q06430
Secondary accession number(s): Q5W0E9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: April 29, 2015
This is version 127 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

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.