EXTL3

Protein-coding gene in the species Homo sapiens
EXTL3
Identifiers
AliasesEXTL3, BOTV, EXTL1L, EXTR1, REGR, RPR, exostosin like glycosyltransferase 3, ISDNA
External IDsOMIM: 605744; MGI: 1860765; HomoloGene: 1103; GeneCards: EXTL3; OMA:EXTL3 - orthologs
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for EXTL3
Genomic location for EXTL3
Band8p21.1Start28,600,469 bp[1]
End28,756,561 bp[1]
Gene location (Mouse)
Chromosome 14 (mouse)
Chr.Chromosome 14 (mouse)[2]
Chromosome 14 (mouse)
Genomic location for EXTL3
Genomic location for EXTL3
Band14|14 D1Start65,289,509 bp[2]
End65,387,304 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • stromal cell of endometrium

  • ventricular zone

  • ganglionic eminence

  • islet of Langerhans

  • prefrontal cortex

  • gastric mucosa

  • frontal pole

  • apex of heart

  • Brodmann area 10

  • right auricle
Top expressed in
  • aortic valve

  • perirhinal cortex

  • ascending aorta

  • nucleus of stria terminalis

  • internal carotid artery

  • external carotid artery

  • renal corpuscle

  • piriform cortex

  • entorhinal cortex

  • atrium
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
  • transferase activity
  • glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
  • metal ion binding
  • glycosyltransferase activity
Cellular component
  • integral component of membrane
  • membrane
  • endoplasmic reticulum
  • endoplasmic reticulum membrane
  • Golgi apparatus
Biological process
  • positive regulation of cell growth
  • IRE1-mediated unfolded protein response
  • heparan sulfate proteoglycan biosynthetic process
  • protein glycosylation
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

2137

54616

Ensembl

ENSG00000012232

ENSMUSG00000021978

UniProt

O43909

Q9WVL6
Q6P1H4

RefSeq (mRNA)

NM_001440

NM_018788
NM_001360385

RefSeq (protein)

NP_001431

NP_061258
NP_001347314
NP_001391867
NP_001391868
NP_001391869

NP_001391870
NP_001391871
NP_001391872
NP_001391873
NP_001391874
NP_001391875

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

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


References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000012232 – Ensembl, May 2017
  2. ^ a b c 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

  • Saito T, Seki N, Yamauchi M, et al. (1998). "Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family". Biochem. Biophys. Res. Commun. 243 (1): 61–6. doi:10.1006/bbrc.1997.8062. PMID 9473480.
  • Nagase T, Ishikawa K, Miyajima N, et al. (1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (1): 31–9. doi:10.1093/dnares/5.1.31. PMID 9628581.
  • McCormick C, Duncan G, Goutsos KT, Tufaro F (2000). "The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate". Proc. Natl. Acad. Sci. U.S.A. 97 (2): 668–73. Bibcode:2000PNAS...97..668M. doi:10.1073/pnas.97.2.668. PMC 15388. PMID 10639137.
  • Kobayashi S, Akiyama T, Nata K, et al. (2000). "Identification of a receptor for reg (regenerating gene) protein, a pancreatic beta-cell regeneration factor". J. Biol. Chem. 275 (15): 10723–6. doi:10.1074/jbc.275.15.10723. PMID 10753861.
  • Kim BT, Kitagawa H, Tamura Ji J, et al. (2002). "Demonstration of a novel gene DEXT3 of Drosophila melanogaster as the essential N-acetylglucosamine transferase in the heparan sulfate biosynthesis: chain initiation and elongation". J. Biol. Chem. 277 (16): 13659–65. doi:10.1074/jbc.M111630200. PMID 11832488.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Bishnupuri KS, Luo Q, Korzenik JR, et al. (2007). "Dysregulation of Reg gene expression occurs early in gastrointestinal tumorigenesis and regulates anti-apoptotic genes". Cancer Biol. Ther. 5 (12): 1714–20. doi:10.4161/cbt.5.12.3469. PMID 17106246.


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