Protein detail
EXTL3
Exostosin-like 3 (EC 2.4.1.223) (EXT-related protein 1) (Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase) (Hereditary multiple exostoses gene isolog) (Multiple exostosis-like protein 3) (Putative tumor suppressor protein EXTL3)
Entry name EXTL3 | UniProt ID | EVMP confidence score 0.25 |
Supporting publications (n) 5 | Transmembrane count 1 | Protein classification Disease related genesEnzymesHuman disease related genesMetabolic proteinsPotential drug targetsPredicted intracellular proteinsPredicted membrane proteins |
EVMP confidence score
Annotation confidence score; open for threshold definitions.
Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40Basic Information13
Protein Names
Exostosin-like 3 (EC 2.4.1.223) (EXT-related protein 1) (Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase) (Hereditary multiple exostoses gene isolog) (Multiple exostosis-like protein 3) (Putative tumor suppressor protein EXTL3)
Protein Class (7)
Disease related genesEnzymesHuman disease related genesMetabolic proteinsPotential drug targetsPredicted intracellular proteinsPredicted membrane proteins
Protein Function (6)
- Predicted intracellular proteins
- Human disease related genes:Congenital malformations:Congenital malformations of the musculoskeletal system
- ENZYME proteins:Transferases
- Potential drug targets
- Enzymes
- Disease related genes
Transmembrane
31..51; Helical; Signal-anchor for type II membrane protein
Transmembrane Count
1
Ensembl
Entrez Gene Symbol
Gene Synonym (2)
botvREGR
Gene Description
Exostosin like glycosyltransferase 3
Chromosome
8
Position
28600469-28756561
Supporting publications (n)
5
EVMP confidence score
0.25
Fluorescence & Localization3
Tissue Specificheart muscleCell SpecificAlveolar cells type 2Single-Nuclei Brain Specificastrocyte
Function & Pathway8
Protein Function (6)
- Predicted intracellular proteins
- Human disease related genes:Congenital malformations:Congenital malformations of the musculoskeletal system
- ENZYME proteins:Transferases
- Potential drug targets
- Enzymes
- Disease related genes
Cellular Component (5)
Molecular Function (5)
Biological Process (3)
KEGG (2)
Reactome (7)
- R-hsa-8953897 cellular responses to stimuli
- R-hsa-1630316 glycosaminoglycan metabolism
- R-hsa-1638091 heparan sulfate heparin hs gag metabolism
- R-hsa-2022928 hs gag biosynthesis
- R-hsa-381070 ire1alpha activates chaperones
- R-hsa-71387 metabolism of carbohydrates and carbohydrate derivatives
- R-hsa-381119 unfolded protein response upr
Canonical Pathways (2)
- M169 Pid integrin2 pathway
- M50 Pid ptp1b pathway
Mediation Categories (3)
Immune mediationMetabolism mediationReceptor-signaling mediation
Relations & Evidence21
Ligand-Receptor Signaling (18)
18 records.
| Category | Parent | Database | Transmitter | Receiver | Secreted | Plasma Membrane (Transmembrane) | Plasma Membrane (Peripheral) |
|---|---|---|---|---|---|---|---|
| transmembrane | transmembrane | Ramilowski_location | No | No | No | No | No |
| transmembrane | transmembrane | OmniPath | No | No | No | No | No |
| plasma_membrane | plasma_membrane | UniProt_location | No | No | No | No | No |
| plasma_membrane | plasma_membrane | OmniPath | No | No | No | No | No |
| transmembrane | transmembrane_predicted | Phobius | No | No | No | No | No |
| transmembrane_phobius | transmembrane_predicted | Almen2009 | No | No | No | No | No |
| transmembrane_sosui | transmembrane_predicted | Almen2009 | No | No | No | No | No |
| transmembrane_tmhmm | transmembrane_predicted | Almen2009 | No | No | No | No | No |
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Protein Complex Composition (2)
Sequence, Structure & Domains11
Sequences
Length
919
Mass
104,749
Sequence
MTGYTMLRNGGAGNGGQTCMLRWSNRIRLTWLSFTLFVILVFFPLIAHYYLTTLDEADEAGKRIFGPRVGNELCEVKHVLDLCRIRESVSEELLQLEAKRQELNSEIAKLNLKIEACKKSIENAKQDLLQLKNVISQTEHSYKELMAQNQPKLSLPIRLLPEKDDAGLPPPKATRGCRLHNCFDYSRCPLTSGFPVYVYDSDQFVFGSYLDPLVKQAFQATARANVYVTENADIACLYVILVGEMQEPVVLRPAELEKQLYSLPHWRTDGHNHVIINLSRKSDTQNLLYNVSTGRAMVAQSTFYTVQYRPGFDLVVSPLVHAMSEPNFMEIPPQVPVKRKYLFTFQGEKIESLRSSLQEARSFEEEMEGDPPADYDDRIIATLKAVQDSKLDQVLVEFTCKNQPKPSLPTEWALCGEREDRLELLKLSTFALIITPGDPRLVISSGCATRLFEALEVGAVPVVLGEQVQLPYQDMLQWNEAALVVPKPRVTEVHFLLRSLSDSDLLAMRRQGRFLWETYFSTADSIFNTVLAMIRTRIQIPAAPIREEAAAEIPHRSGKAAGTDPNMADNGDLDLGPVETEPPYASPRYLRNFTLTVTDFYRSWNCAPGPFHLFPHTPFDPVLPSEAKFLGSGTGFRPIGGGAGGSGKEFQAALGGNVPREQFTVVMLTYEREEVLMNSLERLNGLPYLNKVVVVWNSPKLPSEDLLWPDIGVPIMVVRTEKNSLNNRFLPWNEIETEAILSIDDDAHLRHDEIMFGFRVWREARDRIVGFPGRYHAWDIPHQSWLYNSNYSCELSMVLTGAAFFHKYYAYLYSYVMPQAIRDMVDEYINCEDIAMNFLVSHITRKPPIKVTSRWTFRCPGCPQALSHDDSHFHERHKCINFFVKVYGYMPLLYTQFRVDSVLFKTRLPHDKTKCFKFI
3D Structural Models
Turn
267..269; 287..290; 305..307; 310..312; 471..475; 597..599; 682..685; 780..783; 902..905
Helix
171..174; 179..182; 185..187; 201..203; 206..209; 212..223; 232..234; 253..261; 328..330; 376..389; 418..425; 445..456; 478..480; 487..492; 493..499; 502..519; 523..537; 592..596; 600..605; 627..629; 639..642; 647..651; 673..681; 725..729; 751..762; 807..815; 819..828; 832..844; 870..887
Beta Strand
190..192; 196..198; 226..228; 236..243; 273..277; 297..301; 313..315; 336..338; 340..346; 394..399; 428..434; 441..443; 460..464; 483..485; 606..608; 656..658; 663..671; 689..696; 698..700; 715..719; 737..744; 769..771; 773..779; 784..788; 802..806; 849..853; 898..900; 915..917
3D Structure
Electron microscopy (2); X-ray crystallography (2)
Domain & Motif Annotations
Domain (CC)
The N-terminal glycosyltransferase domain (GT47) does not bind UDP and is therefore unlikely to possess glycosyltransferase activity.
Region
1..140; Required for interaction with REG3A
Protein Families
Glycosyltransferase 47 family
Sequence Similarities
Belongs to the glycosyltransferase 47 family.
Clinical Relevance6
Disease Involvement (3)
Disease variantDwarfismIntellectual disability
Antibody
Interaction Protein
ENSG00000106688
Interaction Count
1
Interaction Dataset
biogrid_bioplex
Supporting Publications5
| PMID | Title | Abstract |
|---|---|---|
| 28211531 | Proteomic analysis of urinary extracellular vesicles from high Gleason score prostate cancer. | No abstract available |
| 28914500 | Comprehensive proteomics analysis of exosomes derived from human seminal plasma. | No abstract available |
| 31414377 | Global extracellular vesicle proteomic signature defines U87-MG glioma cell hypoxic status with potential implications for non-invasive diagnostics. | No abstract available |
| 32331267 | Mass Spectrometry-Based Proteomic Characterization of Cutaneous Melanoma Ectosomes Reveals the Presence of Cancer-Related Molecules. | No abstract available |
| 33169421 | A novel method of high-purity extracellular vesicle enrichment from microliter-scale human serum for proteomic analysis. | No abstract available |