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

Summary

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: Enables protein-hormone receptor activity. Involved in several processes, including negative regulation of cytokine production involved in inflammatory response; negative regulation of inflammatory response to wounding; and negative regulation of keratinocyte differentiation. Is active in plasma membrane. 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, Dec 2024]
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

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_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.

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Variation

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Alleles

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

Endonuclease-mediated (3)
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

Extl3 (e-PCR), detects polymorphism
- UniSTS:507427

AU040105 (e-PCR)
- UniSTS:160353

Extl3 (e-PCR), detects polymorphism
- UniSTS:546765

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IEA Inferred from Electronic Annotation more info
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 glycosyltransferase activity	ISS Inferred from Sequence or Structural Similarity 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

Process	Evidence Code	Pubs
involved_in heparan sulfate proteoglycan biosynthetic process	IEA Inferred from Electronic Annotation more info
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 heparan sulfate proteoglycan biosynthetic process	ISS Inferred from Sequence or Structural Similarity 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 keratinocyte proliferation	ISO Inferred from Sequence Orthology more info
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 Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum 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

EC 2.4.1.223

NP_001391867.1

EC 2.4.1.223

NP_001391868.1

EC 2.4.1.223

NP_001391869.1

EC 2.4.1.223

NP_001391870.1

EC 2.4.1.223

NP_001391871.1

EC 2.4.1.223

NP_001391872.1

EC 2.4.1.223

NP_001391873.1

EC 2.4.1.223

NP_001391874.1

EC 2.4.1.223

NP_001391875.1

EC 2.4.1.223

NP_061258.2

EC 2.4.1.223

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)

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

Status: VALIDATED

Source sequence(s)

AC124489, AC155172

UniProtKB/Swiss-Prot

E9QKN8, Q9WVL6

UniProtKB/TrEMBL

Q6P1H4
NM_001404939.1 → NP_001391868.1 exostosin-like 3 isoform 1

Status: VALIDATED

Source sequence(s)

AC124489, AC155172

UniProtKB/Swiss-Prot

E9QKN8, Q9WVL6

UniProtKB/TrEMBL

Q6P1H4
NM_001404940.1 → NP_001391869.1 exostosin-like 3 isoform 1

Status: VALIDATED

Source sequence(s)

AC124489, AC155172

UniProtKB/Swiss-Prot

E9QKN8, Q9WVL6

UniProtKB/TrEMBL

Q6P1H4
NM_001404941.1 → NP_001391870.1 exostosin-like 3 isoform 1

Status: VALIDATED

Source sequence(s)

AC155172

UniProtKB/Swiss-Prot

E9QKN8, Q9WVL6

UniProtKB/TrEMBL

Q6P1H4
NM_001404942.1 → NP_001391871.1 exostosin-like 3 isoform 2

Status: VALIDATED

Source sequence(s)

AC155172

UniProtKB/Swiss-Prot

E9QKN8, Q9WVL6
NM_001404943.1 → NP_001391872.1 exostosin-like 3 isoform 2

Status: VALIDATED

Source sequence(s)

AC155172

UniProtKB/Swiss-Prot

E9QKN8, Q9WVL6
NM_001404944.1 → NP_001391873.1 exostosin-like 3 isoform 3

Status: VALIDATED

Source sequence(s)

AC124489, AC155172

UniProtKB/Swiss-Prot

E9QKN8, Q9WVL6
NM_001404945.1 → NP_001391874.1 exostosin-like 3 isoform 3

Status: VALIDATED

Source sequence(s)

AC155172

UniProtKB/Swiss-Prot

E9QKN8, Q9WVL6
NM_001404946.1 → NP_001391875.1 exostosin-like 3 isoform 3

Status: VALIDATED

Source sequence(s)

AC155172

UniProtKB/Swiss-Prot

E9QKN8, Q9WVL6
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