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Q6L9W6

- B4GN3_HUMAN

UniProt

Q6L9W6 - B4GN3_HUMAN

Protein

Beta-1,4-N-acetylgalactosaminyltransferase 3

Gene

B4GALNT3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 90 (01 Oct 2014)
      Sequence version 2 (04 Dec 2007)
      Previous versions | rss
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    Functioni

    Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N'-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans. Mediates the N,N'-diacetyllactosediamine formation on gastric mucosa.1 Publication

    Catalytic activityi

    UDP-N-acetyl-alpha-D-galactosamine + N-acetyl-beta-D-glucosaminyl group = UDP + N-acetyl-beta-D-galactosaminyl-(1->4)-N-acetyl-beta-D-glucosaminyl group.1 Publication

    GO - Molecular functioni

    1. acetylgalactosaminyltransferase activity Source: HGNC
    2. N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity Source: UniProtKB-EC

    GO - Biological processi

    1. metabolic process Source: GOC

    Keywords - Molecular functioni

    Transferase

    Enzyme and pathway databases

    BRENDAi2.4.1.244. 2681.

    Protein family/group databases

    CAZyiGT7. Glycosyltransferase Family 7.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Beta-1,4-N-acetylgalactosaminyltransferase 3 (EC:2.4.1.244)
    Short name:
    B4GalNAcT3
    Short name:
    Beta4GalNAc-T3
    Short name:
    Beta4GalNAcT3
    Alternative name(s):
    Beta-1,4-N-acetylgalactosaminyltransferase III
    N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 2
    Short name:
    NGalNAc-T2
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:24137. B4GALNT3.

    Subcellular locationi

    Golgi apparatusGolgi stack membrane 1 Publication; Single-pass type II membrane protein 1 Publication
    Note: Localizes to apical Golgi.

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142672564.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 998998Beta-1,4-N-acetylgalactosaminyltransferase 3PRO_0000252368Add
    BLAST

    Proteomic databases

    PaxDbiQ6L9W6.
    PRIDEiQ6L9W6.

    PTM databases

    PhosphoSiteiQ6L9W6.

    Expressioni

    Tissue specificityi

    Highly expressed in testis, colon and stomach. Weakly expressed in other tissues.1 Publication

    Gene expression databases

    ArrayExpressiQ6L9W6.
    BgeeiQ6L9W6.
    CleanExiHS_B4GALNT3.
    GenevestigatoriQ6L9W6.

    Organism-specific databases

    HPAiHPA011404.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000266383.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6L9W6.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2424CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini46 – 998953LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei25 – 4521Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG70066.
    HOGENOMiHOG000071102.
    HOVERGENiHBG080886.
    InParanoidiQ6L9W6.
    KOiK09656.
    OMAiQWPEGYW.
    PhylomeDBiQ6L9W6.
    TreeFamiTF318303.

    Family and domain databases

    Gene3Di3.90.182.10. 1 hit.
    3.90.550.10. 1 hit.
    InterProiIPR008428. Chond_GalNAc.
    IPR029044. Nucleotide-diphossugar_trans.
    IPR011658. PA14.
    [Graphical view]
    PANTHERiPTHR12369. PTHR12369. 1 hit.
    PfamiPF05679. CHGN. 1 hit.
    PF07691. PA14. 1 hit.
    [Graphical view]
    SMARTiSM00758. PA14. 1 hit.
    [Graphical view]
    SUPFAMiSSF53448. SSF53448. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q6L9W6-1 [UniParc]FASTAAdd to Basket

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    MGSPRAARPP LLLRPVKLLR RRFRLLLALA VVSVGLWTLY LELVASAQVG    50
    GNPLNRRYGS WRELAKALAS RNIPAVDPHL QFYHPQRLSL EDHDIDQGVS 100
    SNSSYLKWNK PVPWLSEFRG RANLHVFEDW CGSSIQQLRR NLHFPLYPHI 150
    RTTLRKLAVS PKWTNYGLRI FGYLHPFTDG KIQFAIAADD NAEFWLSLDD 200
    QVSGLQLLAS VGKTGKEWTA PGEFGKFRSQ ISKPVSLSAS HRYYFEVLHK 250
    QNEEGTDHVE VAWRRNDPGA KFTIIDSLSL SLFTNETFLQ MDEVGHIPQT 300
    AASHVDSSNA LPRDEQPPAD MLRPDPRDTL YRVPLIPKSH LRHVLPDCPY 350
    KPSYLVDGLP LQRYQGLRFV HLSFVYPNDY TRLSHMETHN KCFYQENAYY 400
    QDRFSFQEYI KIDQPEKQGL EQPGFEENLL EESQYGEVAE ETPASNNQNA 450
    RMLEGRQTPA STLEQDATDY RLRSLRKLLA QPREGLLAPF SKRNSTASFP 500
    GRTSHIPVQQ PEKRKQKPSP EPSQDSPHSD KWPPGHPVKN LPQMRGPRPR 550
    PAGDSPRKTQ WLNQVESYIA EQRRGDRMRP QAPGRGWHGE EEVVAAAGQE 600
    GQVEGEEEGE EEEEEEDMSE VFEYVPVFDP VVNWDQTFSA RNLDFQALRT 650
    DWIDLSCNTS GNLLLPEQEA LEVTRVFLKK LNQRSRGRYQ LQRIVNVEKR 700
    QDQLRGGRYL LELELLEQGQ RVVRLSEYVS ARGWQGIDPA GGEEVEARNL 750
    QGLVWDPHNR RRQVLNTRAQ EPKLCWPQGF SWSHRAVVHF VVPVKNQARW 800
    VQQFIKDMEN LFQVTGDPHF NIVITDYSSE DMDVEMALKR SKLRSYQYVK 850
    LSGNFERSAG LQAGIDLVKD PHSIIFLCDL HIHFPAGVID AIRKHCVEGK 900
    MAFAPMVMRL HCGATPQWPE GYWEVNGFGL LGIYKSDLDR IGGMNTKEFR 950
    DRWGGEDWEL LDRILQAGLD VERLSLRNFF HHFHSKRGMW SRRQMKTL 998
    Length:998
    Mass (Da):114,975
    Last modified:December 4, 2007 - v2
    Checksum:i1FDA8490C8FA1D0B
    GO

    Sequence cautioni

    The sequence BAD18454.1 differs from that shown. Reason: Probable intron retention.
    The sequence BAC05141.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti59 – 591G → S.
    Corresponds to variant rs2075033 [ dbSNP | Ensembl ].
    VAR_027842
    Natural varianti265 – 2651R → Q.
    Corresponds to variant rs11063529 [ dbSNP | Ensembl ].
    VAR_027843
    Natural varianti411 – 4111K → R.1 Publication
    Corresponds to variant rs7298766 [ dbSNP | Ensembl ].
    VAR_027844
    Natural varianti768 – 7681R → Q.
    Corresponds to variant rs11063570 [ dbSNP | Ensembl ].
    VAR_048717
    Natural varianti992 – 9921R → H.
    Corresponds to variant rs36078145 [ dbSNP | Ensembl ].
    VAR_048718

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB089940 mRNA. Translation: BAD02449.1.
    AK097681 mRNA. Translation: BAC05141.1. Different initiation.
    AK131277 mRNA. Translation: BAD18454.1. Sequence problems.
    AC005844 Genomic DNA. No translation available.
    AC006205 Genomic DNA. No translation available.
    CCDSiCCDS8504.1.
    RefSeqiNP_775864.3. NM_173593.3.
    UniGeneiHs.504416.

    Genome annotation databases

    EnsembliENST00000266383; ENSP00000266383; ENSG00000139044.
    GeneIDi283358.
    KEGGihsa:283358.
    UCSCiuc001qii.1. human.

    Polymorphism databases

    DMDMi161789024.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB089940 mRNA. Translation: BAD02449.1 .
    AK097681 mRNA. Translation: BAC05141.1 . Different initiation.
    AK131277 mRNA. Translation: BAD18454.1 . Sequence problems.
    AC005844 Genomic DNA. No translation available.
    AC006205 Genomic DNA. No translation available.
    CCDSi CCDS8504.1.
    RefSeqi NP_775864.3. NM_173593.3.
    UniGenei Hs.504416.

    3D structure databases

    ProteinModelPortali Q6L9W6.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000266383.

    Protein family/group databases

    CAZyi GT7. Glycosyltransferase Family 7.

    PTM databases

    PhosphoSitei Q6L9W6.

    Polymorphism databases

    DMDMi 161789024.

    Proteomic databases

    PaxDbi Q6L9W6.
    PRIDEi Q6L9W6.

    Protocols and materials databases

    DNASUi 283358.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000266383 ; ENSP00000266383 ; ENSG00000139044 .
    GeneIDi 283358.
    KEGGi hsa:283358.
    UCSCi uc001qii.1. human.

    Organism-specific databases

    CTDi 283358.
    GeneCardsi GC12P000569.
    H-InvDB HIX0201853.
    HGNCi HGNC:24137. B4GALNT3.
    HPAi HPA011404.
    MIMi 612220. gene.
    neXtProti NX_Q6L9W6.
    PharmGKBi PA142672564.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG70066.
    HOGENOMi HOG000071102.
    HOVERGENi HBG080886.
    InParanoidi Q6L9W6.
    KOi K09656.
    OMAi QWPEGYW.
    PhylomeDBi Q6L9W6.
    TreeFami TF318303.

    Enzyme and pathway databases

    BRENDAi 2.4.1.244. 2681.

    Miscellaneous databases

    ChiTaRSi B4GALNT3. human.
    GenomeRNAii 283358.
    NextBioi 93835.
    PROi Q6L9W6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q6L9W6.
    Bgeei Q6L9W6.
    CleanExi HS_B4GALNT3.
    Genevestigatori Q6L9W6.

    Family and domain databases

    Gene3Di 3.90.182.10. 1 hit.
    3.90.550.10. 1 hit.
    InterProi IPR008428. Chond_GalNAc.
    IPR029044. Nucleotide-diphossugar_trans.
    IPR011658. PA14.
    [Graphical view ]
    PANTHERi PTHR12369. PTHR12369. 1 hit.
    Pfami PF05679. CHGN. 1 hit.
    PF07691. PA14. 1 hit.
    [Graphical view ]
    SMARTi SM00758. PA14. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53448. SSF53448. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and characterization of a novel human beta 1,4-N-acetylgalactosaminyltransferase, beta 4GalNAc-T3, responsible for the synthesis of N,N'-diacetyllactosediamine, galNAc beta 1-4GlcNAc."
      Sato T., Gotoh M., Kiyohara K., Kameyama A., Kubota T., Kikuchi N., Ishizuka Y., Iwasaki H., Togayachi A., Kudo T., Ohkura T., Nakanishi H., Narimatsu H.
      J. Biol. Chem. 278:47534-47544(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], CATALYTIC ACTIVITY, TISSUE SPECIFICITY, VARIANT ARG-411.
    2. "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] OF 540-998.
      Tissue: Testis and Tongue.
    3. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "Apical Golgi localization of N,N'-diacetyllactosediamine synthase, beta4GalNAc-T3, is responsible for LacdiNAc expression on gastric mucosa."
      Ikehara Y., Sato T., Niwa T., Nakamura S., Gotoh M., Ikehara S.K., Kiyohara K., Aoki C., Iwai T., Nakanishi H., Hirabayashi J., Tatematsu M., Narimatsu H.
      Glycobiology 16:777-785(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiB4GN3_HUMAN
    AccessioniPrimary (citable) accession number: Q6L9W6
    Secondary accession number(s): Q6ZNC1, Q8N7T6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 17, 2006
    Last sequence update: December 4, 2007
    Last modified: October 1, 2014
    This is version 90 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 12
      Human chromosome 12: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3