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Q06430

- GNT2B_HUMAN

UniProt

Q06430 - GNT2B_HUMAN

Protein

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

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 124 (01 Oct 2014)
      Sequence version 1 (01 Jun 1994)
      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: ProtInc

    GO - Biological processi

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

    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: 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
    3. membrane Source: ProtInc

    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 – 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

    ArrayExpressiQ06430.
    BgeeiQ06430.
    CleanExiHS_GCNT2.
    GenevestigatoriQ06430.

    Interactioni

    Protein-protein interaction databases

    BioGridi108921. 1 interaction.
    STRINGi9606.ENSP00000265012.

    Structurei

    3D structure databases

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

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 66CytoplasmicSequence Analysis
    Topological domaini26 – 400375LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei7 – 2519Helical; 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.
    OMAiAITSHAY.

    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 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

    MPLSMRYLFI ISVSSVIIFI VFSVFNFGGD PSFQRLNISD PLRLTQVCTS    50
    FINGKTRFLW KNKLMIHEKS SCKEYLTQSH YITAPLSKEE ADFPLAYIMV 100
    IHHHFDTFAR LFRAIYMPQN IYCVHVDEKA TTEFKDAVEQ LLSCFPNAFL 150
    ASKMEPVVYG GISRLQADLN CIRDLSAFEV SWKYVINTCG QDFPLKTNKE 200
    IVQYLKGFKG KNITPGVLPP AHAIGRTKYV HQEHLGKELS YVIRTTALKP 250
    PPPHNLTIYF GSAYVALSRE FANFVLHDPR AVDLLQWSKD TFSPDEHFWV 300
    TLNRIPGVPG SMPNASWTGN LRAIKWSDME DRHGGCHGHY VHGICIYGNG 350
    DLKWLVNSPS LFANKFELNT YPLTVECLEL RHRERTLNQS ETAIQPSWYF 400

    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:
    EMBL
    GenBank
    DDBJ
    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 databases

    DMDMi543887.

    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:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS4512.1. [Q06430-1 ]
    PIRi A46297.
    RefSeqi NP_001482.1. NM_001491.2. [Q06430-1 ]
    UniGenei Hs.519884.

    3D structure databases

    ProteinModelPortali Q06430.
    SMRi Q06430. Positions 55-387.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108921. 1 interaction.
    STRINGi 9606.ENSP00000265012.

    Protein family/group databases

    CAZyi GT14. Glycosyltransferase Family 14.

    PTM databases

    PhosphoSitei Q06430.

    Polymorphism databases

    DMDMi 543887.

    Proteomic databases

    PRIDEi Q06430.

    Protocols and materials databases

    DNASUi 2651.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000316170 ; ENSP00000314844 ; ENSG00000111846 . [Q06430-1 ]
    GeneIDi 2651.
    KEGGi hsa:2651.
    UCSCi uc003mzd.3. human. [Q06430-1 ]

    Organism-specific databases

    CTDi 2651.
    GeneCardsi GC06P010492.
    HGNCi HGNC:4204. GCNT2.
    MIMi 110800. phenotype.
    600429. gene.
    neXtProti NX_Q06430.
    PharmGKBi PA169.
    GenAtlasi Search...

    Phylogenomic databases

    HOGENOMi HOG000293251.
    HOVERGENi HBG051711.
    KOi K00742.
    OMAi AITSHAY.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    BioCyci MetaCyc:HS03475-MONOMER.
    SignaLinki Q06430.

    Miscellaneous databases

    ChiTaRSi GCNT2. human.
    GeneWikii GCNT2.
    GenomeRNAii 2651.
    NextBioi 10472.
    PROi Q06430.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q06430.
    Bgeei Q06430.
    CleanExi HS_GCNT2.
    Genevestigatori Q06430.

    Family and domain databases

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

    Publicationsi

    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: October 1, 2014
    This is version 124 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