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    Extl3 exostosin-like glycosyltransferase 3 [ Mus musculus (house mouse) ]

    Gene ID: 54616, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Extl3provided by MGI
    Official Full Name
    exostosin-like glycosyltransferase 3provided by MGI
    Primary source
    MGI:MGI:1860765
    See related
    Ensembl:ENSMUSG00000021978 AllianceGenome:MGI:1860765
    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
    Ext1l; mKIAA0519; 2900009G18Rik
    Summary
    Predicted to enable glycosyltransferase activity. Predicted to be involved in heparan sulfate proteoglycan biosynthetic process and positive regulation of cell growth. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in Golgi apparatus. Is expressed in several structures, including alimentary system; central nervous system; heart; metanephros; and sensory organ. Orthologous to human EXTL3 (exostosin like glycosyltransferase 3). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in subcutaneous fat pad adult (RPKM 31.2), mammary gland adult (RPKM 19.2) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Extl3 in Genome Data Viewer
    Location:
    14 D1; 14 33.86 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (65289508..65387322, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (65052059..65149899, complement)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene homeobox containing 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:65568546-65568932 Neighboring gene high mobility group nucleosomal binding domain 2, pseudogene Neighboring gene integrator complex subunit 9 Neighboring gene STARR-positive B cell enhancer mm9_chr14:65644927-65645227 Neighboring gene predicted gene, 52118 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:65716318-65716519 Neighboring gene STARR-positive B cell enhancer ABC_E11573 Neighboring gene predicted gene, 52119 Neighboring gene STARR-positive B cell enhancer ABC_E388 Neighboring gene STARR-seq mESC enhancer starr_36964 Neighboring gene predicted gene, 30008 Neighboring gene predicted gene, 41177 Neighboring gene frizzled class receptor 3 Neighboring gene predicted gene 9086

    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. Important role of heparan sulfate in postnatal islet growth and insulin secretion. Takahashi I, et al. Biochem Biophys Res Commun, 2009 May 22. PMID 19336225
    2. Glycosyltransferase encoding gene EXTL3 is differentially expressed in the developing and adult mouse cerebral cortex. Osman NM, et al. Brain Res Dev Brain Res, 2004 Jul 19. PMID 15246697
    3. Alpha1,4-N-acetylglucosaminyltransferase encoding gene EXTL3 expression pattern in mouse adult and developing tissues with special attention to the pancreas. Osman NM, et al. Anat Embryol (Berl), 2003 Dec. PMID 14618397
    4. The structure of EXTL3 helps to explain the different roles of bi-domain exostosins in heparan sulfate synthesis. Wilson LFL, et al. Nat Commun, 2022 Jun 8. PMID 35676258, Free PMC Article
    5. REG3A/REG3B promotes acinar to ductal metaplasia through binding to EXTL3 and activating the RAS-RAF-MEK-ERK signaling pathway. Zhang H, et al. Commun Biol, 2021 Jun 7. PMID 34099862, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The structure of EXTL3 helps to explain the different roles of bi-domain exostosins in heparan sulfate synthesis.
      Title: The structure of EXTL3 helps to explain the different roles of bi-domain exostosins in heparan sulfate synthesis.
    2. REG3A/REG3B promotes acinar to ductal metaplasia through binding to EXTL3 and activating the RAS-RAF-MEK-ERK signaling pathway.
      Title: REG3A/REG3B promotes acinar to ductal metaplasia through binding to EXTL3 and activating the RAS-RAF-MEK-ERK signaling pathway.
    3. Regenerating islet-derived 1alpha (Reg-1alpha) protein is new neuronal secreted factor that stimulates neurite outgrowth via exostosin Tumor-like 3 (EXTL3) receptor.
      Title: Regenerating islet-derived 1α (Reg-1α) protein is new neuronal secreted factor that stimulates neurite outgrowth via exostosin Tumor-like 3 (EXTL3) receptor.
    4. EXTL3 expression at different grades in the central and peripheral nervous system components including the neural retina and neural crest-derived structures at embryonic days (E) 11.5, E12.5, E14.5, and E16.5.
      Title: Glycosyltransferase encoding gene EXTL3 is differentially expressed in the developing and adult mouse cerebral cortex.
    5. EXTL3 expression is developmentally regulated, and contributes to the regulated production of heparan sulfate in different adult and embryonic tissues of mice.
      Title: Alpha1,4-N-acetylglucosaminyltransferase encoding gene EXTL3 expression pattern in mouse adult and developing tissues with special attention to the pancreas.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Targeted (2)  1 citation
    • Endonuclease-mediated (3) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0519

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables glycosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glycosyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables magnesium ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein-hormone receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein-hormone receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein-hormone receptor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in heparan sulfate proteoglycan biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in heparan sulfate proteoglycan biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of cytokine production involved in inflammatory response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of inflammatory response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of inflammatory response to wounding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of inflammatory response to wounding ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of keratinocyte differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of keratinocyte differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of cell growth ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of detection of glucose IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of keratinocyte proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to lipopolysaccharide IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    exostosin-like 3
    Names
    exostoses (multiple)-like 3
    exostoses-like 3
    exostosin
    glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
    multiple exostosis-like protein 3
    NP_001347314.1
    NP_001391867.1
    NP_001391868.1
    NP_001391869.1
    NP_001391870.1
    NP_001391871.1
    NP_001391872.1
    NP_001391873.1
    NP_001391874.1
    NP_001391875.1
    NP_061258.2

    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_001360385.2 → NP_001347314.1  exostosin-like 3 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC155172
      Consensus CDS
      CCDS27211.1
      UniProtKB/Swiss-Prot
      E9QKN8, Q9WVL6
      UniProtKB/TrEMBL
      Q6P1H4
      Conserved Domains (3) summary
      pfam03016
      Location:190 → 500
      Exostosin; Exostosin family
      pfam07926
      Location:76 → 150
      TPR_MLP1_2; TPR/MLP1/MLP2-like protein
      pfam09258
      Location:663 → 900
      Glyco_transf_64; Glycosyl transferase family 64 domain

    2. NM_001404938.1 → NP_001391867.1  exostosin-like 3 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC124489, AC155172
      UniProtKB/TrEMBL
      Q6P1H4

    3. NM_001404939.1 → NP_001391868.1  exostosin-like 3 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC124489, AC155172
      UniProtKB/TrEMBL
      Q6P1H4

    4. NM_001404940.1 → NP_001391869.1  exostosin-like 3 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC124489, AC155172
      UniProtKB/TrEMBL
      Q6P1H4

    5. NM_001404941.1 → NP_001391870.1  exostosin-like 3 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC155172
      UniProtKB/TrEMBL
      Q6P1H4

    6. NM_001404942.1 → NP_001391871.1  exostosin-like 3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC155172

    7. NM_001404943.1 → NP_001391872.1  exostosin-like 3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC155172

    8. NM_001404944.1 → NP_001391873.1  exostosin-like 3 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC124489, AC155172

    9. NM_001404945.1 → NP_001391874.1  exostosin-like 3 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC155172

    10. NM_001404946.1 → NP_001391875.1  exostosin-like 3 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC155172

    11. NM_018788.4 → NP_061258.2  exostosin-like 3 isoform 1

      See identical proteins and their annotated locations for NP_061258.2

      Status: VALIDATED

      Source sequence(s)
      AC155172
      Consensus CDS
      CCDS27211.1
      UniProtKB/Swiss-Prot
      E9QKN8, Q9WVL6
      UniProtKB/TrEMBL
      Q6P1H4
      Related
      ENSMUSP00000022550.8, ENSMUST00000022550.8
      Conserved Domains (3) summary
      pfam03016
      Location:190 → 500
      Exostosin; Exostosin family
      pfam07926
      Location:76 → 150
      TPR_MLP1_2; TPR/MLP1/MLP2-like protein
      pfam09258
      Location:663 → 900
      Glyco_transf_64; Glycosyl transferase family 64 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_000080.7 Reference GRCm39 C57BL/6J

      Range
      65289508..65387322 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9WVL6.2 GenPept UniProtKB/Swiss-Prot:Q9WVL6

    Gene LinkOut

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

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