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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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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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