SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q8N0V5

- GNT2A_HUMAN

UniProt

Q8N0V5 - GNT2A_HUMAN

Protein

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

Gene

GCNT2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 82 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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 cell migration Source: UniProt
    4. positive regulation of cell proliferation Source: UniProt
    5. positive regulation of epithelial to mesenchymal transition Source: UniProt
    6. positive regulation of ERK1 and ERK2 cascade 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

    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

    Organism-specific databases

    HGNCiHGNC:4204. GCNT2.

    Subcellular locationi

    GO - Cellular componenti

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

    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 APRO_0000395119Add
    BLAST

    Amino acid modifications

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

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 77CytoplasmicSequence Analysis
    Topological domaini24 – 400377LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei8 – 2316Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyltransferase 14 family.Curated

    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]
    ProtoNetiSearch...

    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

    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: October 1, 2014
    This is version 82 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

    Similar proteinsi