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Q8NFS9

- GNT2C_HUMAN

UniProt

Q8NFS9 - GNT2C_HUMAN

Protein

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

Gene

GCNT2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 75 (01 Oct 2014)
      Sequence version 2 (15 Jun 2010)
      Previous versions | rss
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    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

    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: Chromosome 6

    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 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

    ArrayExpressiQ8NFS9.
    BgeeiQ8NFS9.

    Organism-specific databases

    HPAiHPA026776.

    Interactioni

    Protein-protein interaction databases

    BioGridi108921. 1 interaction.

    Structurei

    3D structure databases

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

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 66CytoplasmicSequence Analysis
    Topological domaini21 – 400380LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei7 – 2014Helical; 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

    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. Align

    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

    MNFWRYCFFA FTLLSVVIFV RFYSSQLSPP KSYEKLNSSS ERYFRKTACN    50
    HALEKMPVFL WENILPSPLR SVPCKDYLTQ NHYITSPLSE EEAAFPLAYV 100
    MVIHKDFDTF ERLFRAIYMP QNVYCVHVDE KAPAEYKESV RQLLSCFQNA 150
    FIASKTESVV YAGISRLQAD LNCLKDLVAS EVPWKYVINT CGQDFPLKTN 200
    REIVQHLKGF KGKNITPGVL PPDHAIKRTK YVHQEHTDKG GFFVKNTNIL 250
    KTSPPHQLTI YFGTAYVALT RDFVDFVLRD QRAIDLLQWS KDTYSPDEHF 300
    WVTLNRVSGV PGSMPNASWT GNLRAIKWSD MEDRHGGCHG HYVHGICIYG 350
    NGDLKWLVNS PSLFANKFEL NTYPLTVECL ELRHRERTLN QSETAIQPSW 400
    YF 402

    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. 1 PublicationCurated
    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:
    EMBL
    GenBank
    DDBJ
    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 databases

    DMDMi298351849.

    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
    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 .
    CCDSi CCDS4513.1. [Q8NFS9-1 ]
    RefSeqi NP_001482.1. NM_001491.2.
    NP_663630.2. NM_145655.3. [Q8NFS9-1 ]
    UniGenei Hs.519884.

    3D structure databases

    ProteinModelPortali Q8NFS9.
    SMRi Q8NFS9. Positions 74-389.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108921. 1 interaction.

    Protein family/group databases

    CAZyi GT14. Glycosyltransferase Family 14.

    Polymorphism databases

    DMDMi 298351849.

    Proteomic databases

    MaxQBi Q8NFS9.
    PRIDEi Q8NFS9.

    Protocols and materials databases

    DNASUi 2651.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265012 ; ENSP00000265012 ; ENSG00000111846 . [Q8NFS9-1 ]
    GeneIDi 2651.
    KEGGi hsa:2651.
    UCSCi uc003mze.3. human. [Q8NFS9-1 ]

    Organism-specific databases

    CTDi 2651.
    GeneCardsi GC06P010492.
    HGNCi HGNC:4204. GCNT2.
    HPAi HPA026776.
    MIMi 110800. phenotype.
    600429. gene.
    neXtProti NX_Q8NFS9.
    PharmGKBi PA169.
    GenAtlasi Search...

    Phylogenomic databases

    HOGENOMi HOG000293251.
    HOVERGENi HBG051711.
    KOi K00742.
    OMAi YCFFAFT.
    PhylomeDBi Q8NFS9.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    SignaLinki Q8NFS9.

    Miscellaneous databases

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

    Gene expression databases

    ArrayExpressi Q8NFS9.
    Bgeei Q8NFS9.

    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.
    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: October 1, 2014
    This is version 75 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