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Q6IS24

- GLTL3_HUMAN

UniProt

Q6IS24 - GLTL3_HUMAN

Protein

Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3

Gene

WBSCR17

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 101 (01 Oct 2014)
      Sequence version 2 (16 Aug 2004)
      Previous versions | rss
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    Functioni

    May catalyze 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 sitei192 – 1921SubstrateBy similarity
    Binding sitei223 – 2231SubstrateBy similarity
    Metal bindingi246 – 2461ManganeseBy similarity
    Metal bindingi248 – 2481ManganeseBy similarity
    Metal bindingi378 – 3781ManganeseBy similarity
    Binding sitei381 – 3811SubstrateBy similarity
    Binding sitei386 – 3861SubstrateBy similarity

    GO - Molecular functioni

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

    GO - Biological processi

    1. protein glycosylation Source: UniProtKB-UniPathway

    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:
    Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3 (EC:2.4.1.41)
    Alternative name(s):
    Polypeptide GalNAc transferase-like protein 3
    Short name:
    GalNAc-T-like protein 3
    Short name:
    pp-GaNTase-like protein 3
    Protein-UDP acetylgalactosaminyltransferase-like protein 3
    UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 3
    Williams-Beuren syndrome chromosomal region 17 protein
    Gene namesi
    Name:WBSCR17
    Synonyms:GALNTL3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:16347. WBSCR17.

    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

    Involvement in diseasei

    WBSCR17 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.

    Keywords - Diseasei

    Williams-Beuren syndrome

    Organism-specific databases

    PharmGKBiPA38124.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 598598Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3PRO_0000059139Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi50 – 501N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi142 ↔ 373PROSITE-ProRule annotation
    Disulfide bondi364 ↔ 443PROSITE-ProRule annotation
    Glycosylationi461 – 4611N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi478 ↔ 494PROSITE-ProRule annotation
    Glycosylationi486 – 4861N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi526 ↔ 541PROSITE-ProRule annotation
    Disulfide bondi568 ↔ 586PROSITE-ProRule annotation

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ6IS24.
    PRIDEiQ6IS24.

    PTM databases

    PhosphoSiteiQ6IS24.

    Expressioni

    Tissue specificityi

    Highly expressed in brain and heart. Weakly expressed in kidney, liver, lung and spleen.1 Publication

    Gene expression databases

    ArrayExpressiQ6IS24.
    BgeeiQ6IS24.
    CleanExiHS_WBSCR17.
    GenevestigatoriQ6IS24.

    Organism-specific databases

    HPAiHPA013624.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000329654.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6IS24.
    SMRiQ6IS24. Positions 93-595.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 66CytoplasmicSequence Analysis
    Topological domaini28 – 598571LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei7 – 2721Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini465 – 594130Ricin B-type lectinPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni151 – 262112Catalytic subdomain AAdd
    BLAST
    Regioni319 – 38163Catalytic 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

    eggNOGiNOG259711.
    HOGENOMiHOG000038228.
    HOVERGENiHBG051699.
    InParanoidiQ6IS24.
    KOiK00710.
    OMAiRYENSGH.
    OrthoDBiEOG7JX33Q.
    PhylomeDBiQ6IS24.
    TreeFamiTF313267.

    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.

    Q6IS24-1 [UniParc]FASTAAdd to Basket

    « Hide

    MASLRRVKVL LVLNLIAVAG FVLFLAKCRP IAVRSGDAFH EIRPRAEVAN    50
    LSAHSASPIQ DAVLKRLSLL EDIVYRQLNG LSKSLGLIEG YGGRGKGGLP 100
    ATLSPAEEEK AKGPHEKYGY NSYLSEKISL DRSIPDYRPT KCKELKYSKD 150
    LPQISIIFIF VNEALSVILR SVHSAVNHTP THLLKEIILV DDNSDEEELK 200
    VPLEEYVHKR YPGLVKVVRN QKREGLIRAR IEGWKVATGQ VTGFFDAHVE 250
    FTAGWAEPVL SRIQENRKRV ILPSIDNIKQ DNFEVQRYEN SAHGYSWELW 300
    CMYISPPKDW WDAGDPSLPI RTPAMIGCSF VVNRKFFGEI GLLDPGMDVY 350
    GGENIELGIK VWLCGGSMEV LPCSRVAHIE RKKKPYNSNI GFYTKRNALR 400
    VAEVWMDDYK SHVYIAWNLP LENPGIDIGD VSERRALRKS LKCKNFQWYL 450
    DHVYPEMRRY NNTVAYGELR NNKAKDVCLD QGPLENHTAI LYPCHGWGPQ 500
    LARYTKEGFL HLGALGTTTL LPDTRCLVDN SKSRLPQLLD CDKVKSSLYK 550
    RWNFIQNGAI MNKGTGRCLE VENRGLAGID LILRSCTGQR WTIKNSIK 598
    Length:598
    Mass (Da):67,751
    Last modified:August 16, 2004 - v2
    Checksum:i9E2D52DBFBD907B1
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti596 – 5961S → P in AAH69997. (PubMed:15489334)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF410457 mRNA. Translation: AAM62306.1.
    BC067524 mRNA. Translation: AAH67524.1.
    BC067525 mRNA. Translation: AAH67525.1.
    BC069624 mRNA. Translation: AAH69624.1.
    BC069628 mRNA. Translation: AAH69628.1.
    BC069636 mRNA. Translation: AAH69636.1.
    BC069645 mRNA. Translation: AAH69645.1.
    BC069997 mRNA. Translation: AAH69997.1.
    AL137431 mRNA. Translation: CAB70734.1.
    CCDSiCCDS5540.1.
    PIRiT46260.
    RefSeqiNP_071924.1. NM_022479.2.
    UniGeneiHs.488591.

    Genome annotation databases

    EnsembliENST00000333538; ENSP00000329654; ENSG00000185274.
    GeneIDi64409.
    KEGGihsa:64409.
    UCSCiuc003tvy.4. human.

    Polymorphism databases

    DMDMi51315852.

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Functional Glycomics Gateway - GTase

    Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF410457 mRNA. Translation: AAM62306.1 .
    BC067524 mRNA. Translation: AAH67524.1 .
    BC067525 mRNA. Translation: AAH67525.1 .
    BC069624 mRNA. Translation: AAH69624.1 .
    BC069628 mRNA. Translation: AAH69628.1 .
    BC069636 mRNA. Translation: AAH69636.1 .
    BC069645 mRNA. Translation: AAH69645.1 .
    BC069997 mRNA. Translation: AAH69997.1 .
    AL137431 mRNA. Translation: CAB70734.1 .
    CCDSi CCDS5540.1.
    PIRi T46260.
    RefSeqi NP_071924.1. NM_022479.2.
    UniGenei Hs.488591.

    3D structure databases

    ProteinModelPortali Q6IS24.
    SMRi Q6IS24. Positions 93-595.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000329654.

    Protein family/group databases

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

    PTM databases

    PhosphoSitei Q6IS24.

    Polymorphism databases

    DMDMi 51315852.

    Proteomic databases

    PaxDbi Q6IS24.
    PRIDEi Q6IS24.

    Protocols and materials databases

    DNASUi 64409.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000333538 ; ENSP00000329654 ; ENSG00000185274 .
    GeneIDi 64409.
    KEGGi hsa:64409.
    UCSCi uc003tvy.4. human.

    Organism-specific databases

    CTDi 64409.
    GeneCardsi GC07P070597.
    HGNCi HGNC:16347. WBSCR17.
    HPAi HPA013624.
    neXtProti NX_Q6IS24.
    PharmGKBi PA38124.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG259711.
    HOGENOMi HOG000038228.
    HOVERGENi HBG051699.
    InParanoidi Q6IS24.
    KOi K00710.
    OMAi RYENSGH.
    OrthoDBi EOG7JX33Q.
    PhylomeDBi Q6IS24.
    TreeFami TF313267.

    Enzyme and pathway databases

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

    Miscellaneous databases

    ChiTaRSi WBSCR17. human.
    GeneWikii WBSCR17.
    GenomeRNAii 64409.
    NextBioi 66366.
    PROi Q6IS24.

    Gene expression databases

    ArrayExpressi Q6IS24.
    Bgeei Q6IS24.
    CleanExi HS_WBSCR17.
    Genevestigatori Q6IS24.

    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. "Identification of additional transcripts in the Williams-Beuren syndrome critical region."
      Merla G., Ucla C., Guipponi M., Reymond A.
      Hum. Genet. 110:429-438(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    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].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 466-598.
      Tissue: Amygdala.

    Entry informationi

    Entry nameiGLTL3_HUMAN
    AccessioniPrimary (citable) accession number: Q6IS24
    Secondary accession number(s): Q8NFV9, Q9NTA8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 16, 2004
    Last sequence update: August 16, 2004
    Last modified: October 1, 2014
    This is version 101 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 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3