EXTL1

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

EXTL1
Identifiers
Aliases	EXTL1, EXTL, exostosin-like glycosyltransferase 1, exostosin like glycosyltransferase 1
External IDs	OMIM: 601738; MGI: 1888742; HomoloGene: 3277; GeneCards: EXTL1; OMA:EXTL1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p36.11 Start 26,019,884 bp[1] End 26,036,464 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 D2.3|4 66.63 cM Start 134,083,683 bp[2] End 134,111,161 bp[2]
RNA expression pattern Bgee Human Mouse (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 Species Human Mouse 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 Mb Chr 4: 134.08 – 134.11 Mb PubMed search [3] [4]
Wikidata
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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]