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    Galnt17 polypeptide N-acetylgalactosaminyltransferase 17 [ Mus musculus (house mouse) ]

    Gene ID: 212996, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Galnt17provided by MGI
    Official Full Name
    polypeptide N-acetylgalactosaminyltransferase 17provided by MGI
    Primary source
    MGI:MGI:2137594
    See related
    Ensembl:ENSMUSG00000034040 AllianceGenome:MGI:2137594
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Gcap8; Galnt19; Wbscr17; E330012B09Rik
    Summary
    Predicted to enable polypeptide N-acetylgalactosaminyltransferase activity. Predicted to be involved in protein O-linked glycosylation. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. Is expressed in several structures, including alimentary system; genitourinary system; musculoskeletal system; nervous system; and sensory organ. Orthologous to human GALNT17 (polypeptide N-acetylgalactosaminyltransferase 17). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in cerebellum adult (RPKM 7.1), cortex adult (RPKM 6.3) and 18 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Galnt17 in Genome Data Viewer
    Location:
    5 G2; 5 70.66 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (130903181..131336360, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (130874343..131307522, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA A330070K13 gene Neighboring gene STARR-seq mESC enhancer starr_14475 Neighboring gene STARR-seq mESC enhancer starr_14476 Neighboring gene STARR-seq mESC enhancer starr_14477 Neighboring gene STARR-seq mESC enhancer starr_14478 Neighboring gene calneuron 1 Neighboring gene STARR-seq mESC enhancer starr_14479 Neighboring gene predicted gene, 40337 Neighboring gene STARR-seq mESC enhancer starr_14481 Neighboring gene predicted gene, 40338 Neighboring gene STARR-seq mESC enhancer starr_14482 Neighboring gene STARR-seq mESC enhancer starr_14484 Neighboring gene STARR-seq mESC enhancer starr_14488 Neighboring gene predicted gene, 29681 Neighboring gene STARR-seq mESC enhancer starr_14493 Neighboring gene STARR-seq mESC enhancer starr_14494 Neighboring gene autism susceptibility candidate 2 Neighboring gene predicted gene, 54306

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Galnt17 loss-of-function leads to developmental delay and abnormal coordination, activity, and social interactions with cerebellar vermis pathology. Chen CY, et al. Dev Biol, 2022 Oct. PMID 36002036, Free PMC Article
    2. A Mouse Mutation That Dysregulates Neighboring Galnt17 and Auts2 Genes Is Associated with Phenotypes Related to the Human AUTS2 Syndrome. Weisner PA, et al. G3 (Bethesda), 2019 Nov 5. PMID 31554716, Free PMC Article
    3. A putative polypeptide N-acetylgalactosaminyltransferase/Williams-Beuren syndrome chromosome region 17 (WBSCR17) regulates lamellipodium formation and macropinocytosis. Nakayama Y, et al. J Biol Chem, 2012 Sep 14. PMID 22787146, Free PMC Article
    4. Molecular characterization of a novel cDNA from murine cerebellum, developmental expression, and distribution in brain. Kambouris M, et al. Brain Res Mol Brain Res, 1994 Sep. PMID 7808217
    5. Cellular distribution of the RNA transcripts of a newly discovered gene in the brain of normal, weaver, Purkinje cell degeneration and reeler mutant mice as evidenced by in situ hybridization histochemistry. Kambouris M, et al. Brain Res Mol Brain Res, 1993 Jun. PMID 8326827

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Galnt17 loss-of-function leads to developmental delay and abnormal coordination, activity, and social interactions with cerebellar vermis pathology.
      Title: Galnt17 loss-of-function leads to developmental delay and abnormal coordination, activity, and social interactions with cerebellar vermis pathology.
    2. Description of a mouse mutation, T(5G2;8A1)GSO, a reciprocal translocation that breaks between Auts2 and Galnt17 and dysregulates both genes and Is associated with phenotypes related to the human AUTS2 syndrome.
      Title: A Mouse Mutation That Dysregulates Neighboring Galnt17 and Auts2 Genes Is Associated with Phenotypes Related to the Human AUTS2 Syndrome.
    3. a subset of O-glycosylation produced by WBSCR17 controls dynamic membrane trafficking, probably between the cell surface and the late endosomes through macropinocytosis
      Title: A putative polypeptide N-acetylgalactosaminyltransferase/Williams-Beuren syndrome chromosome region 17 (WBSCR17) regulates lamellipodium formation and macropinocytosis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables polypeptide N-acetylgalactosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables polypeptide N-acetylgalactosaminyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in protein O-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    polypeptide N-acetylgalactosaminyltransferase 17
    Names
    UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like 3
    UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 3
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase
    Williams-Beuren syndrome chromosome region 17 homolog
    galNAc-T-like protein 3
    granule cell antiserum positive 8
    polypeptide GalNAc transferase-like protein 3
    polypeptide N-acetylgalactosaminyltransferase-like 3
    pp-GaNTase-like protein 3
    protein-UDP acetylgalactosaminyltransferase-like protein 3
    putative polypeptide N-acetylgalactosaminyltransferase-like protein 3
    williams-Beuren syndrome chromosomal region 17 protein homolog
    NP_660253.2
    XP_006504465.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_145218.3 → NP_660253.2  polypeptide N-acetylgalactosaminyltransferase 17 precursor

      See identical proteins and their annotated locations for NP_660253.2

      Status: VALIDATED

      Source sequence(s)
      AC118926, BC069177
      Consensus CDS
      CCDS39296.1
      UniProtKB/Swiss-Prot
      Q7TT15, Q8BKN7, Q8BUY1, Q8BX73, Q8BZC8, Q8K483
      UniProtKB/TrEMBL
      Q59J92
      Related
      ENSMUSP00000083187.6, ENSMUST00000086023.13
      Conserved Domains (2) summary
      cd02510
      Location:155 → 454
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      cd00161
      Location:467 → 593
      RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      130903181..131336360 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006504402.5 → XP_006504465.1  polypeptide N-acetylgalactosaminyltransferase 17 isoform X1

      See identical proteins and their annotated locations for XP_006504465.1

      Conserved Domains (2) summary
      pfam00652
      Location:141 → 267
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
      cl11394
      Location:1 → 130
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7TT15.1 GenPept UniProtKB/Swiss-Prot:Q7TT15

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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