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    Galnt1 polypeptide N-acetylgalactosaminyltransferase 1 [ Mus musculus (house mouse) ]

    Gene ID: 14423, updated on 12-May-2024

    Summary

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    Official Symbol
    Galnt1provided by MGI
    Official Full Name
    polypeptide N-acetylgalactosaminyltransferase 1provided by MGI
    Primary source
    MGI:MGI:894693
    See related
    Ensembl:ENSMUSG00000000420 AllianceGenome:MGI:894693
    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
    Summary
    Enables polypeptide N-acetylgalactosaminyltransferase activity. Acts upstream of or within protein O-linked glycosylation. Predicted to be located in perinuclear region of cytoplasm. Predicted to be active in Golgi apparatus. Is expressed in several structures, including alimentary system; brain; cranium; respiratory system; and sensory organ. Used to study heart valve disease. Orthologous to human GALNT1 (polypeptide N-acetylgalactosaminyltransferase 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in liver E14 (RPKM 19.5), placenta adult (RPKM 18.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Galnt1 in Genome Data Viewer
    Location:
    18 A2; 18 12.9 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (24338401..24419873)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (24205321..24286816)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 41677 Neighboring gene STARR-seq mESC enhancer starr_44057 Neighboring gene INO80 complex subunit C Neighboring gene PRP19/PSO4 pre-mRNA processing factor 19 homolog pseudogene Neighboring gene predicted gene, 38565 Neighboring gene STARR-seq mESC enhancer starr_44062 Neighboring gene predicted gene, 38410

    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
    • 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. Severe impairment of leukocyte recruitment in ppGalNAcT-1-deficient mice. Block H, et al. J Immunol, 2012 Jun 1. PMID 22544932
    2. Structure-function analysis of the UDP-N-acetyl-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase. Essential residues lie in a predicted active site cleft resembling a lactose repressor fold. Hagen FK, et al. J Biol Chem, 1999 Mar 5. PMID 10037781
    3. Isoform-specific regulation of osteogenic factors by polypeptide N-Acetylgalactosaminyltransferases 1 and 4. Tang J, et al. Biochem Biophys Res Commun, 2017 Jan 22. PMID 27965094
    4. Control of mucin-type O-glycosylation: a classification of the polypeptide GalNAc-transferase gene family. Bennett EP, et al. Glycobiology, 2012 Jun. PMID 22183981, Free PMC Article
    5. Emerging paradigms for the initiation of mucin-type protein O-glycosylation by the polypeptide GalNAc transferase family of glycosyltransferases. Gerken TA, et al. J Biol Chem, 2011 Apr 22. PMID 21349845, Free PMC Article

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. the ppGalNAc-T4 was highly expressed in MC3T3-E1 cells during osteogenesis for the first time; ppGalNAc-T1 and -T4 affected the expression of different osteogenic factors, suggesting distinct roles ppGalNAc-T isoforms play in regulating osteogenesis in vitro
      Title: Isoform-specific regulation of osteogenic factors by polypeptide N-Acetylgalactosaminyltransferases 1 and 4.
    2. Study show that in Galnt1 null mouse, there is compromised cardiac function that mimics human congenital heart disease suggesting that Galnt1 expression is required for normal heart valve development.
      Title: Galnt1 is required for normal heart valve development and cardiac function.
    3. The GALNT1 is the glycosyltransferase enzyme family covering a single known glycosidic linkage.
      Title: Control of mucin-type O-glycosylation: a classification of the polypeptide GalNAc-transferase gene family.
    4. Polypeptide GalNAcT-1 plays a predominant role in leukocyte recruitment in vivo by attaching functionally relevant O-linked glycans to L-selectin ligands.
      Title: Severe impairment of leukocyte recruitment in ppGalNAcT-1-deficient mice.
    5. each ppGalNAc T isoform may be uniquely sensitive to peptide sequence and overall charge, which together dictates the substrate sites that will be glycosylated
      Title: Emerging paradigms for the initiation of mucin-type protein O-glycosylation by the polypeptide GalNAc transferase family of glycosyltransferases.
    6. Growth factor stimulation regulates O-glycosylation initiation in a Src-dependent fashion by GalNac-T redistribution from golgi to the endoplasmic reticulum.
      Title: Regulation of O-glycosylation through Golgi-to-ER relocation of initiation enzymes.
    7. ppGalNAcT-1 to be indispensable for O-glycosylation at specific sites of the bone glycoproteins OPN and BSP.
      Title: Isoform-specific O-glycosylation of osteopontin and bone sialoprotein by polypeptide N-acetylgalactosaminyltransferase-1.
    8. These findings reveal that the initiation of protein O glycosylation by ppGalNAcT-1 provides a distinctive repertoire of advantageous functions that support vascular responses and humoral immunity.
      Title: Initiation of protein O glycosylation by the polypeptide GalNAcT-1 in vascular biology and humoral immunity.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    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 glycosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables manganese ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables polypeptide N-acetylgalactosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables polypeptide N-acetylgalactosaminyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables polypeptide N-acetylgalactosaminyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein O-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within protein O-linked glycosylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein O-linked glycosylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein O-linked glycosylation via serine ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein O-linked glycosylation via threonine ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    colocalizes_with Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    polypeptide N-acetylgalactosaminyltransferase 1
    Names
    UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 1
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1
    galNAc-T1
    polypeptide GalNAc transferase 1
    pp-GaNTase 1
    ppGaNTase-T1
    protein-UDP acetylgalactosaminyltransferase 1
    NP_001153876.1
    NP_001348129.1
    NP_038842.3

    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_001160404.1 → NP_001153876.1  polypeptide N-acetylgalactosaminyltransferase 1

      See identical proteins and their annotated locations for NP_001153876.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK085878, AK148550, BC090962, BY711053, CX123572
      Consensus CDS
      CCDS29100.1
      UniProtKB/Swiss-Prot
      O08912, Q5BKS3, Q7TND1
      Related
      ENSMUSP00000132142.2, ENSMUST00000170243.8
      Conserved Domains (2) summary
      cd02510
      Location:119 → 419
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      pfam00652
      Location:432 → 548
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

    2. NM_001361200.1 → NP_001348129.1  polypeptide N-acetylgalactosaminyltransferase 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC134856
      Consensus CDS
      CCDS29100.1
      UniProtKB/Swiss-Prot
      O08912, Q5BKS3, Q7TND1
      Conserved Domains (2) summary
      cd02510
      Location:119 → 419
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      pfam00652
      Location:432 → 548
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

    3. NM_013814.3 → NP_038842.3  polypeptide N-acetylgalactosaminyltransferase 1

      See identical proteins and their annotated locations for NP_038842.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK085878, BC056215, BC090962, BY142456, CX123572
      Consensus CDS
      CCDS29100.1
      UniProtKB/Swiss-Prot
      O08912, Q5BKS3, Q7TND1
      Related
      ENSMUSP00000000430.8, ENSMUST00000000430.14
      Conserved Domains (2) summary
      cd02510
      Location:119 → 419
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      pfam00652
      Location:432 → 548
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

    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_000084.7 Reference GRCm39 C57BL/6J

      Range
      24338401..24419873
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O08912.1 GenPept UniProtKB/Swiss-Prot:O08912

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