EXTL3

Last updated
EXTL3
Identifiers
Aliases EXTL3 , BOTV, EXTL1L, EXTR1, REGR, RPR, exostosin like glycosyltransferase 3, ISDNA
External IDs OMIM: 605744 MGI: 1860765 HomoloGene: 1103 GeneCards: EXTL3
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001440

NM_018788
NM_001360385

RefSeq (protein)

NP_001431

Location (UCSC) Chr 8: 28.6 – 28.76 Mb Chr 14: 65.29 – 65.39 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Exostosin-like 3 is a protein that in humans is encoded by the EXTL3 gene. [5] [6] [7] [8]


Related Research Articles

<span class="mw-page-title-main">Hereditary multiple exostoses</span> Rare skeletal disorder

Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a disorder characterized by the development of multiple benign osteocartilaginous masses (exostoses) in relation to the ends of long bones of the lower limbs such as the femurs and tibias and of the upper limbs such as the humeri and forearm bones. They are also known as osteochondromas. Additional sites of occurrence include on flat bones such as the pelvic bone and scapula. The distribution and number of these exostoses show a wide diversity among affected individuals. Exostoses usually present during childhood. The vast majority of affected individuals become clinically manifest by the time they reach adolescence. A small percentage of affected individuals are at risk for development of malignant transformation namely sarcomas. The incidence of hereditary multiple exostoses is around 1 in 50,000 individuals. Hereditary multiple osteochondromas is the preferred term used by the World Health Organization.

<span class="mw-page-title-main">Major basic protein</span>

Eosinophil major basic protein, often shortened to major basic protein is encoded in humans by the PRG2 gene.

<span class="mw-page-title-main">EXT1</span> Protein-coding gene in the species Homo sapiens

Exostosin-1 is a protein that in humans is encoded by the EXT1 gene.

<span class="mw-page-title-main">EXT2 (gene)</span>

Exostosin glycosyltransferase-2 is a protein that in humans is encoded by the EXT2 gene.

<span class="mw-page-title-main">PHKA2</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">TRAP1</span>

Heat shock protein 75 kDa, mitochondrial is a protein that in humans is encoded by the TRAP1 gene.

<span class="mw-page-title-main">NDST1</span> Enzyme

Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 is an enzyme. In humans, it is encoded by the NDST1 gene.

<span class="mw-page-title-main">ITM2A</span> Protein-coding gene in the species Homo sapiens

Integral membrane protein 2A is a protein that in humans is encoded by the ITM2A gene.

<span class="mw-page-title-main">EXTL1</span> Protein-coding gene in the species Homo sapiens

Exostosin-like 1 is a protein that in humans is encoded by the EXTL1 gene.

<span class="mw-page-title-main">HS3ST3A1</span> Protein-coding gene in the species Homo sapiens

Heparan sulfate glucosamine 3-O-sulfotransferase 3A1 is an enzyme that in humans is encoded by the HS3ST3A1 gene.

<span class="mw-page-title-main">HGSNAT</span> Protein-coding gene in the species Homo sapiens

Heparan-α-glucosaminide N-acetyltransferase is an enzyme that in humans is encoded by the HGSNAT gene.

<span class="mw-page-title-main">Glypican 5</span>

Glypican-5 is a protein that in humans is encoded by the GPC5 gene.

<span class="mw-page-title-main">NDST2</span> Enzyme

Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 is an enzyme that in humans is encoded by the NDST2 gene.

<span class="mw-page-title-main">HS3ST3B1</span> Protein-coding gene in the species Homo sapiens

Heparan sulfate glucosamine 3-O-sulfotransferase 3B1 is an enzyme that in humans is encoded by the HS3ST3B1 gene. Heparan sulfate biosynthetic enzymes are key components in generating myriad distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity ( HS3ST3A1). The Sulfotransferase domain of this enzyme is highly similar to the same domain of heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3A1 and these two enzymes sulfate an identical disaccharide. This gene is widely expressed, with the most abundant expression in liver and placenta.

<span class="mw-page-title-main">CHODL</span> Protein-coding gene in the species Homo sapiens

Chondrolectin is a protein that in humans is encoded by the CHODL gene. Mouse chondrolectin is encoded by Chodl.

<span class="mw-page-title-main">EXTL2</span> Protein-coding gene in the species Homo sapiens

Exostosin-like 2 is a protein that in humans is encoded by the EXTL2 gene. EXTL2 Glycosyltransferase is required for the biosynthesis of heparan-sulfate and responsible for the alternating addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N-acetylglucosamine (GlcNAc) units to nascent heparan sulfate chains.

<span class="mw-page-title-main">GLCE</span>

D-glucuronyl C5-epimerase is an enzyme that in humans is encoded by the GLCE gene.

<span class="mw-page-title-main">NDST3</span> Enzyme

Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3 is an enzyme that in humans is encoded by the NDST3 gene. It catalyses the reaction:

3'-phosphoadenylyl sulfate + α-D-glucosaminyl-[heparan sulfate](n) = adenosine 3',5'-bisphosphate + 2 H+ + N-sulfo-α-D-glucosaminyl-[heparan sulfate](n)

<span class="mw-page-title-main">HS3ST2</span>

Heparan sulfate glucosamine 3-O-sulfotransferase 2 is an enzyme that in humans is encoded by the HS3ST2 gene.

<span class="mw-page-title-main">Glypican 6</span>

Glypican-6 is a protein that in humans is encoded by the GPC6 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000012232 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000021978 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Van Hul W, Wuyts W, Hendrickx J, Speleman F, Wauters J, De Boulle K, Van Roy N, Bossuyt P, Willems PJ (Apr 1998). "Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family". Genomics. 47 (2): 230–7. doi:10.1006/geno.1997.5101. PMID   9479495.
  6. Wuyts W, Van Hul W, Hendrickx J, Speleman F, Wauters J, De Boulle K, Van Roy N, Van Agtmael T, Bossuyt P, Willems PJ (Mar 1998). "Identification and characterization of a novel member of the EXT gene family, EXTL2". Eur J Hum Genet. 5 (6): 382–9. doi:10.1159/000484796. PMID   9450183.
  7. Mizuno K, Irie S, Sato TA (Mar 2001). "Overexpression of EXTL3/EXTR1 enhances NF-kappaB activity induced by TNF-alpha". Cell Signal. 13 (2): 125–30. doi:10.1016/S0898-6568(00)00144-3. PMID   11257457.
  8. "Entrez Gene: EXTL3 exostoses (multiple)-like 3".

Further reading