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Q8N0V5

- GNT2A_HUMAN

UniProt

Q8N0V5 - GNT2A_HUMAN

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Protein
N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform A
Gene
GCNT2, GCNT5, II, NACGT1
Organism
Homo sapiens (Human)
Status
Reviewed - 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: UniProt

GO - Biological processi

  1. maintenance of lens transparency Source: UniProt
  2. negative regulation of cell-substrate adhesion Source: UniProt
  3. positive regulation of ERK1 and ERK2 cascade Source: UniProt
  4. positive regulation of cell migration Source: UniProt
  5. positive regulation of cell proliferation Source: UniProt
  6. positive regulation of epithelial to mesenchymal transition Source: UniProt
  7. positive regulation of heterotypic cell-cell adhesion Source: UniProt
  8. positive regulation of protein kinase B signaling Source: UniProt
  9. posttranscriptional regulation of gene expression Source: UniProt
  10. protein glycosylation Source: UniProt
  11. transforming growth factor beta receptor signaling pathway Source: UniProt
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
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:4204. GCNT2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 77Cytoplasmic Reviewed prediction
Transmembranei8 – 2316Helical; Signal-anchor for type II membrane protein; Reviewed prediction
Add
BLAST
Topological domaini24 – 400377Lumenal Reviewed prediction
Add
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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 402402N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform A
PRO_0000395119Add
BLAST

Amino acid modifications

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

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8N0V5.
PRIDEiQ8N0V5.

Expressioni

Tissue specificityi

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

Gene expression databases

ArrayExpressiQ8N0V5.
BgeeiQ8N0V5.

Interactioni

Protein-protein interaction databases

BioGridi108921. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ8N0V5.
SMRiQ8N0V5. Positions 74-389.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG253565.
HOGENOMiHOG000293251.
HOVERGENiHBG051711.
KOiK00742.
OMAiGKSIDEF.
PhylomeDBiQ8N0V5.
TreeFamiTF315534.

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. Align

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

MMGSWKHCLF SASLISALIF VFVYNTELWE NKRFLRAALS NASLLAEACH    50
QIFEGKVFYP TENALKTTLD EATCYEYMVR SHYVTETLSE EEAGFPLAYT 100
VTIHKDFGTF ERLFRAIYMP QNVYCVHLDQ KATDAFKGAV KQLLSCFPNA 150
FLASKKESVV YGGISRLQAD LNCLEDLVAS EVPWKYVINT CGQDFPLKTN 200
REIVQYLKGF KGKNITPGVL PPDHAVGRTK YVHQELLNHK NSYVIKTTKL 250
KTPPPHDMVI YFGTAYVALT RDFANFVLQD QLALDLLSWS KDTYSPDEHF 300
WVTLNRIPGV PGSMPNASWT GNLRAIKWSD MEDRHGGCHG HYVHGICIYG 350
NGDLKWLVNS PSLFANKFEL NTYPLTVECL ELRHRERTLN QSETAIQPSW 400
YF 402
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.

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_006715052.1. [Q8N0V5-1]
UniGeneiHs.519884.

Genome annotation databases

EnsembliENST00000379597; ENSP00000368917; ENSG00000111846. [Q8N0V5-1]
ENST00000495262; ENSP00000419411; ENSG00000111846. [Q8N0V5-1]
GeneIDi2651.
KEGGihsa:2651.
UCSCiuc003mzc.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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS34338.1. [Q8N0V5-1 ]
RefSeqi NP_663624.1. NM_145649.4. [Q8N0V5-1 ]
XP_006715115.1. XM_006715052.1. [Q8N0V5-1 ]
UniGenei Hs.519884.

3D structure databases

ProteinModelPortali Q8N0V5.
SMRi Q8N0V5. Positions 74-389.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108921. 1 interaction.

Protein family/group databases

CAZyi GT14. Glycosyltransferase Family 14.

Proteomic databases

PaxDbi Q8N0V5.
PRIDEi Q8N0V5.

Protocols and materials databases

DNASUi 2651.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000379597 ; ENSP00000368917 ; ENSG00000111846 . [Q8N0V5-1 ]
ENST00000495262 ; ENSP00000419411 ; ENSG00000111846 . [Q8N0V5-1 ]
GeneIDi 2651.
KEGGi hsa:2651.
UCSCi uc003mzc.4. human. [Q8N0V5-1 ]

Organism-specific databases

CTDi 2651.
GeneCardsi GC06P010492.
HGNCi HGNC:4204. GCNT2.
MIMi 110800. phenotype.
600429. gene.
neXtProti NX_Q8N0V5.
PharmGKBi PA169.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG253565.
HOGENOMi HOG000293251.
HOVERGENi HBG051711.
KOi K00742.
OMAi GKSIDEF.
PhylomeDBi Q8N0V5.
TreeFami TF315534.

Enzyme and pathway databases

UniPathwayi UPA00378 .
SignaLinki Q8N0V5.

Miscellaneous databases

ChiTaRSi GCNT2. human.
GenomeRNAii 2651.
NextBioi 10472.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8N0V5.
Bgeei Q8N0V5.

Family and domain databases

InterProi IPR003406. Glyco_trans_14.
[Graphical view ]
Pfami PF02485. Branch. 1 hit.
[Graphical view ]
ProtoNeti Search...

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.
    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].

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: July 9, 2014
This is version 81 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. 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

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