EXTL1

Protein-coding gene in the species Homo sapiens
EXTL1
Identifiers
AliasesEXTL1, EXTL, exostosin-like glycosyltransferase 1, exostosin like glycosyltransferase 1
External IDsOMIM: 601738; MGI: 1888742; HomoloGene: 3277; GeneCards: EXTL1; OMA:EXTL1 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for EXTL1
Genomic location for EXTL1
Band1p36.11Start26,019,884 bp[1]
End26,036,464 bp[1]
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)[2]
Chromosome 4 (mouse)
Genomic location for EXTL1
Genomic location for EXTL1
Band4 D2.3|4 66.63 cMStart134,083,683 bp[2]
End134,111,161 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right frontal lobe

  • tibial nerve

  • prefrontal cortex

  • Brodmann area 9

  • cingulate gyrus

  • anterior cingulate cortex

  • amygdala

  • muscle of thigh

  • tibia

  • sural nerve
Top expressed in
  • muscle of thigh

  • extraocular muscle

  • lumbar subsegment of spinal cord

  • zygote

  • soleus muscle

  • visual cortex

  • primary visual cortex

  • upper arm

  • superior frontal gyrus

  • triceps brachii muscle
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • transferase activity
  • glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
  • glycosyltransferase activity
Cellular component
  • integral component of membrane
  • endoplasmic reticulum
  • membrane
  • endoplasmic reticulum membrane
Biological process
  • skeletal system development
  • protein glycosylation
  • IRE1-mediated unfolded protein response
Sources:Amigo / QuickGO
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

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

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. ^ a b c GRCh38: Ensembl release 89: ENSG00000158008 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "Entrez Gene: EXTL1 exostoses (multiple)-like 1".

Further reading

  • Zak BM, Crawford BE, Esko JD (2003). "Hereditary multiple exostoses and heparan sulfate polymerization". Biochim. Biophys. Acta. 1573 (3): 346–55. doi:10.1016/S0304-4165(02)00402-6. PMID 12417417.
  • Xu L, Xia J, Jiang H, et al. (1999). "Mutation analysis of hereditary multiple exostoses in the Chinese". Hum. Genet. 105 (1–2): 45–50. doi:10.1007/s004390051062. PMID 10480354.
  • Wuyts W, Spieker N, Van Roy N, et al. (2000). "Refined physical mapping and genomic structure of the EXTL1 gene". Cytogenet. Cell Genet. 86 (3–4): 267–70. doi:10.1159/000015317. PMID 10575224. S2CID 43018785.
  • Kim BT, Kitagawa H, Tamura J, et al. (2001). "Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode α1,4- N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis". Proc. Natl. Acad. Sci. U.S.A. 98 (13): 7176–81. Bibcode:2001PNAS...98.7176K. doi:10.1073/pnas.131188498. PMC 34642. PMID 11390981.
  • 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.
  • Mathysen D, Van Roy N, Van Hul W, et al. (2004). "Molecular analysis of the putative tumour-suppressor gene EXTL1 in neuroblastoma patients and cell lines". Eur. J. Cancer. 40 (8): 1255–61. doi:10.1016/j.ejca.2004.01.013. PMID 15110891.
  • 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.
  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
  • Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.


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