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Extl1 exostosin-like glycosyltransferase 1 [ Mus musculus (house mouse) ]

Gene ID: 56219, updated on 2-Nov-2024

Summary

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Official Symbol
Extl1provided by MGI
Official Full Name
exostosin-like glycosyltransferase 1provided by MGI
Primary source
MGI:MGI:1888742
See related
Ensembl:ENSMUSG00000028838 AllianceGenome:MGI:1888742
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
D430033M16Rik
Summary
Predicted to enable glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity and glucuronosyltransferase activity. Predicted to be involved in heparan sulfate proteoglycan biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in Golgi apparatus. Is expressed in several structures, including cranium; jaw; limb; nose; and sclerotome. Orthologous to human EXTL1 (exostosin like glycosyltransferase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in cortex adult (RPKM 13.0), frontal lobe adult (RPKM 8.2) and 18 other tissues See more
Orthologs
human all
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Genomic context

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See Extl1 in Genome Data Viewer
Location:
4 D2.3; 4 66.63 cM
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (134083684..134099893, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (134356373..134372547, complement)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene tripartite motif-containing 63 Neighboring gene STARR-seq mESC enhancer starr_11671 Neighboring gene solute carrier family 30 (zinc transporter), member 2 Neighboring gene STARR-seq mESC enhancer starr_11675 Neighboring gene STARR-positive B cell enhancer ABC_E3526 Neighboring gene STARR-seq mESC enhancer starr_11677 Neighboring gene platelet-activating factor acetylhydrolase 2 Neighboring gene predicted gene, 30453

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. Glycosyltransferase Extl1 promotes CCR7-mediated dendritic cell migration to restrain infection and autoimmunity. Liu J, et al. Cell Rep, 2023 Jan 31. PMID 36656709
  2. EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis. Stickens D, et al. Dev Dyn, 2000 Jul. PMID 10878610
  3. Assignment of the mouse Extl1 gene to the distal part of chromosome 4 by in situ hybridization and radiation hybrid mapping. Mathysen D, et al. Cytogenet Cell Genet, 2001. PMID 11306818
  4. Dynamic Expression of Genes Involved in Proteoglycan/Glycosaminoglycan Metabolism during Skin Development. Uijtdewilligen PJE, et al. Biomed Res Int, 2018. PMID 30228991, Free PMC Article
  5. GenePaint.org: an atlas of gene expression patterns in the mouse embryo. Visel A, et al. Nucleic Acids Res, 2004 Jan 1. PMID 14681479, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables glucuronosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in heparan sulfate proteoglycan biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in heparan sulfate proteoglycan biosynthetic process ISS
Inferred from Sequence or Structural Similarity
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 endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
exostosin-like 1
Names
Exostosin-like 1 (Exostosin-L) (Multiple exostosis-like protein)
exostoses (multiple)-like 1
exostoses-like 1
exostosin-L
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
multiple exostoses-like 1
multiple exostosis-like protein
NP_001342422.1
NP_062524.2
XP_006539121.1

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_001355493.1 → NP_001342422.1  exostosin-like 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AK085075, AK161915, AL669982, BE943744
    Conserved Domains (2) summary
    pfam03016
    Location:15 → 59
    Exostosin; Exostosin family
    pfam09258
    Location:143 → 379
    Glyco_transf_64; Glycosyl transferase family 64 domain

  2. NM_019578.2 → NP_062524.2  exostosin-like 1 isoform 1

    See identical proteins and their annotated locations for NP_062524.2

    Status: VALIDATED

    Source sequence(s)
    AF224461, AK085075, AK161915
    Consensus CDS
    CCDS18770.1
    UniProtKB/Swiss-Prot
    E9QKA3, Q9JKV7
    UniProtKB/TrEMBL
    Q0VAW4
    Related
    ENSMUSP00000030643.3, ENSMUST00000030643.3
    Conserved Domains (2) summary
    pfam03016
    Location:89 → 328
    Exostosin; Exostosin family
    pfam09258
    Location:412 → 648
    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_000070.7 Reference GRCm39 C57BL/6J

    Range
    134083684..134099893 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006539058.2 → XP_006539121.1  exostosin-like 1 isoform X1

    Conserved Domains (1) summary
    pfam09258
    Location:85 → 321
    Glyco_transf_64; Glycosyl transferase family 64 domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9JKV7.2 GenPept UniProtKB/Swiss-Prot:Q9JKV7

Gene LinkOut

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