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Q9NY28

- GALT8_HUMAN

UniProt

Q9NY28 - GALT8_HUMAN

Protein

Probable polypeptide N-acetylgalactosaminyltransferase 8

Gene

GALNT8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    Probably catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.By similarity

    Catalytic activityi

    UDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP + N-acetyl-alpha-D-galactosaminyl-polypeptide.

    Cofactori

    Manganese.By similarity

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei221 – 2211SubstrateBy similarity
    Binding sitei255 – 2551SubstrateBy similarity
    Metal bindingi278 – 2781ManganeseBy similarity
    Metal bindingi280 – 2801ManganeseBy similarity
    Metal bindingi409 – 4091ManganeseBy similarity
    Binding sitei412 – 4121SubstrateBy similarity
    Binding sitei417 – 4171SubstrateBy similarity

    GO - Molecular functioni

    1. metal ion binding Source: UniProtKB-KW
    2. polypeptide N-acetylgalactosaminyltransferase activity Source: ProtInc

    GO - Biological processi

    1. cellular protein metabolic process Source: Reactome
    2. O-glycan processing Source: Reactome
    3. post-translational protein modification Source: Reactome

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Keywords - Ligandi

    Lectin, Manganese, Metal-binding

    Enzyme and pathway databases

    ReactomeiREACT_115606. O-linked glycosylation of mucins.
    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiCBM13. Carbohydrate-Binding Module Family 13.
    GT27. Glycosyltransferase Family 27.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Probable polypeptide N-acetylgalactosaminyltransferase 8 (EC:2.4.1.41)
    Alternative name(s):
    Polypeptide GalNAc transferase 8
    Short name:
    GalNAc-T8
    Short name:
    pp-GaNTase 8
    Protein-UDP acetylgalactosaminyltransferase 8
    UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 8
    Gene namesi
    Name:GALNT8
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:4130. GALNT8.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA28543.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 637637Probable polypeptide N-acetylgalactosaminyltransferase 8PRO_0000059119Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi85 – 851N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi107 – 1071N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi160 – 1601N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi171 ↔ 404PROSITE-ProRule annotation
    Disulfide bondi395 ↔ 474PROSITE-ProRule annotation
    Disulfide bondi509 ↔ 525PROSITE-ProRule annotation
    Disulfide bondi556 ↔ 571PROSITE-ProRule annotation
    Disulfide bondi599 ↔ 617PROSITE-ProRule annotation

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ9NY28.
    PRIDEiQ9NY28.

    PTM databases

    PhosphoSiteiQ9NY28.

    Expressioni

    Tissue specificityi

    Widely expressed. Expressed in heart, skeletal muscle, kidney, liver, small intestine and placenta. Weakly expressed in colon, thymus, spleen, lung and leukocyte.1 Publication

    Gene expression databases

    ArrayExpressiQ9NY28.
    BgeeiQ9NY28.
    CleanExiHS_GALNT8.
    GenevestigatoriQ9NY28.

    Organism-specific databases

    HPAiHPA012638.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000252318.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NY28.
    SMRiQ9NY28. Positions 144-627.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 66CytoplasmicSequence Analysis
    Topological domaini30 – 637608LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei7 – 2923Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini496 – 634139Ricin B-type lectinPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni180 – 294115Catalytic subdomain AAdd
    BLAST
    Regioni351 – 41262Catalytic subdomain BAdd
    BLAST

    Domaini

    There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding.By similarity
    The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.By similarity

    Sequence similaritiesi

    Contains 1 ricin B-type lectin domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0463.
    HOGENOMiHOG000038228.
    HOVERGENiHBG051699.
    InParanoidiQ9NY28.
    KOiK00710.
    OMAiRCLQKTY.
    OrthoDBiEOG7QVM2G.
    PhylomeDBiQ9NY28.
    TreeFamiTF352661.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR001173. Glyco_trans_2-like.
    IPR029044. Nucleotide-diphossugar_trans.
    IPR000772. Ricin_B_lectin.
    [Graphical view]
    PfamiPF00535. Glycos_transf_2. 1 hit.
    PF00652. Ricin_B_lectin. 1 hit.
    [Graphical view]
    SMARTiSM00458. RICIN. 1 hit.
    [Graphical view]
    SUPFAMiSSF50370. SSF50370. 1 hit.
    SSF53448. SSF53448. 1 hit.
    PROSITEiPS50231. RICIN_B_LECTIN. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9NY28-1 [UniParc]FASTAAdd to Basket

    « Hide

    MMFWRKLPKA LFIGLTLAIA VNLLLVFSSK GTLQNLFTGG LHRELPLHLN    50
    KRYGAVIKRL SHLEVELQDL KESMKLALRQ QENVNSTLKR AKDEVRPLLK 100
    AMETKVNETK KHKTQMKLFP HSQLFRQWGE DLSEAQQKAA QDLFRKFGYN 150
    AYLSNQLPLN RTIPDTRDYR CLRKTYPSQL PSLSVILIFV NEALSIIQRA 200
    ITSIINRTPS RLLKEIILVD DFSSNGELKV HLDEKIKLYN QKYPGLLKII 250
    RHPERKGLAQ ARNTGWEAAT ADVVAILDAH IEVNVGWAEP ILARIQEDRT 300
    VIVSPVFDNI RFDTFKLDKY ELAVDGFNWE LWCRYDALPQ AWIDLHDVTA 350
    PVKSPSIMGI LAANRHFLGE IGSLDGGMLI YGGENVELSL RVWQCGGKVE 400
    ILPCSRIAHL ERHHKPYALD LTAALKRNAL RVAEIWMDEH KHMVYLAWNI 450
    PLQNSGIDFG DVSSRMALRE KLKCKTFDWY LKNVYPLLKP LHTIVGYGRM 500
    KNLLDENVCL DQGPVPGNTP IMYYCHEFSS QNVYYHLTGE LYVGQLIAEA 550
    SASDRCLTDP GKAEKPTLEP CSKAAKNRLH IYWDFKPGGA VINRDTKRCL 600
    EMKKDLLGSH VLVLQTCSTQ VWEIQHTVRD WGQTNSQ 637
    Length:637
    Mass (Da):72,851
    Last modified:October 1, 2000 - v1
    Checksum:i4C8BA5DC9A9A1F64
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti53 – 531Y → D.
    Corresponds to variant rs10849133 [ dbSNP | Ensembl ].
    VAR_019581
    Natural varianti53 – 531Y → N.1 Publication
    VAR_019582
    Natural varianti234 – 2341E → K.
    Corresponds to variant rs16931676 [ dbSNP | Ensembl ].
    VAR_033947
    Natural varianti267 – 2671E → G.1 Publication
    Corresponds to variant rs34776842 [ dbSNP | Ensembl ].
    VAR_019583
    Natural varianti312 – 3121F → S.1 Publication
    Corresponds to variant rs34829532 [ dbSNP | Ensembl ].
    VAR_019584
    Natural varianti337 – 3371A → V.1 Publication
    VAR_019585
    Natural varianti438 – 4381D → G.1 Publication
    VAR_019586
    Natural varianti515 – 5151V → F.1 Publication
    Corresponds to variant rs1468556 [ dbSNP | Ensembl ].
    VAR_019587
    Natural varianti611 – 6111V → M.1 Publication
    Corresponds to variant rs34114277 [ dbSNP | Ensembl ].
    VAR_019588
    Natural varianti630 – 6301D → G.
    Corresponds to variant rs16931692 [ dbSNP | Ensembl ].
    VAR_049241

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ271385 mRNA. Translation: CAB89199.1.
    BC140888 mRNA. Translation: AAI40889.1.
    BC140889 mRNA. Translation: AAI40890.1.
    CCDSiCCDS8533.1.
    RefSeqiNP_059113.1. NM_017417.1.
    UniGeneiHs.511985.

    Genome annotation databases

    EnsembliENST00000252318; ENSP00000252318; ENSG00000130035.
    GeneIDi26290.
    KEGGihsa:26290.
    UCSCiuc001qne.1. human.

    Polymorphism databases

    DMDMi51316106.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Functional Glycomics Gateway - GTase

    Probable polypeptide N-acetylgalactosaminyltransferase 8

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ271385 mRNA. Translation: CAB89199.1 .
    BC140888 mRNA. Translation: AAI40889.1 .
    BC140889 mRNA. Translation: AAI40890.1 .
    CCDSi CCDS8533.1.
    RefSeqi NP_059113.1. NM_017417.1.
    UniGenei Hs.511985.

    3D structure databases

    ProteinModelPortali Q9NY28.
    SMRi Q9NY28. Positions 144-627.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000252318.

    Protein family/group databases

    CAZyi CBM13. Carbohydrate-Binding Module Family 13.
    GT27. Glycosyltransferase Family 27.

    PTM databases

    PhosphoSitei Q9NY28.

    Polymorphism databases

    DMDMi 51316106.

    Proteomic databases

    PaxDbi Q9NY28.
    PRIDEi Q9NY28.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000252318 ; ENSP00000252318 ; ENSG00000130035 .
    GeneIDi 26290.
    KEGGi hsa:26290.
    UCSCi uc001qne.1. human.

    Organism-specific databases

    CTDi 26290.
    GeneCardsi GC12P004829.
    HGNCi HGNC:4130. GALNT8.
    HPAi HPA012638.
    MIMi 606250. gene.
    neXtProti NX_Q9NY28.
    PharmGKBi PA28543.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0463.
    HOGENOMi HOG000038228.
    HOVERGENi HBG051699.
    InParanoidi Q9NY28.
    KOi K00710.
    OMAi RCLQKTY.
    OrthoDBi EOG7QVM2G.
    PhylomeDBi Q9NY28.
    TreeFami TF352661.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    Reactomei REACT_115606. O-linked glycosylation of mucins.

    Miscellaneous databases

    ChiTaRSi GALNT8. human.
    GenomeRNAii 26290.
    NextBioi 48631.
    PROi Q9NY28.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NY28.
    Bgeei Q9NY28.
    CleanExi HS_GALNT8.
    Genevestigatori Q9NY28.

    Family and domain databases

    Gene3Di 3.90.550.10. 1 hit.
    InterProi IPR001173. Glyco_trans_2-like.
    IPR029044. Nucleotide-diphossugar_trans.
    IPR000772. Ricin_B_lectin.
    [Graphical view ]
    Pfami PF00535. Glycos_transf_2. 1 hit.
    PF00652. Ricin_B_lectin. 1 hit.
    [Graphical view ]
    SMARTi SM00458. RICIN. 1 hit.
    [Graphical view ]
    SUPFAMi SSF50370. SSF50370. 1 hit.
    SSF53448. SSF53448. 1 hit.
    PROSITEi PS50231. RICIN_B_LECTIN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene."
      White K.E., Lorenz B., Evans W.E., Meitinger T., Strom T.M., Econs M.J.
      Gene 246:347-356(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANTS ASN-53; GLY-267; SER-312; VAL-337; GLY-438; PHE-515 AND MET-611.
      Tissue: Fetal brain.
    2. "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 nameiGALT8_HUMAN
    AccessioniPrimary (citable) accession number: Q9NY28
    Secondary accession number(s): B2RU02
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 16, 2004
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 106 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 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3