EXTL1

Exostosin-like 1 is a protein that in humans is encoded by the EXTL1 gene.[5][6]

EXTL1
Identifiers
AliasesEXTL1, EXTL, exostosin-like glycosyltransferase 1, exostosin like glycosyltransferase 1
External IDsOMIM: 601738 MGI: 1888742 HomoloGene: 3277 GeneCards: EXTL1
Orthologs
SpeciesHumanMouse
Entrez

2134

56219

Ensembl

ENSG00000158008

ENSMUSG00000028838

UniProt

Q92935

Q9JKV7

RefSeq (mRNA)

NM_004455

NM_019578
NM_001355493

RefSeq (protein)

NP_004446

NP_062524
NP_001342422

Location (UCSC)Chr 1: 26.02 – 26.04 MbChr 4: 134.08 – 134.11 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly heparin.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000158008 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000028838 - 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. Wise CA, Clines GA, Massa H, Trask BJ, Lovett M (May 1997). "Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family". Genome Res. 7 (1): 10–6. doi:10.1101/gr.7.1.10. PMID 9037597.
  6. "Entrez Gene: EXTL1 exostoses (multiple)-like 1".

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.