• Gene id: 2137

Gene Summary

• Gene Symbol: EXTL3   Gene   UCSC   Ensembl
• Aliases: BOTV, EXTL1L, EXTR1, ISDNA, REGR, RPR
• Gene name: exostosin like glycosyltransferase 3
• Alternate names: exostosin-like 3, EXT-related 1, epididymis secretory sperm binding protein, exostoses (multiple)-like 3, exostosin tumor-like 3, glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase, hereditary multiple exostoses gene isolog, putative tumo,
• Gene location: 8p21.1 (28607735: 28755598)     Exons: 10     NC_000008.11
• Gene summary(Entrez): This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis.
• OMIM: 602783

Protein Summary

• Protein general information: O43909  
  • Name: 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)
  • Length: 919  
  • Mass: 104749
  • Tissue specificity: Ubiquitous. Expressed in keratinocytes. {ECO
• Sequence:

  MTGYTMLRNGGAGNGGQTCMLRWSNRIRLTWLSFTLFVILVFFPLIAHYYLTTLDEADEAGKRIFGPRVGNELCE
  VKHVLDLCRIRESVSEELLQLEAKRQELNSEIAKLNLKIEACKKSIENAKQDLLQLKNVISQTEHSYKELMAQNQ
  PKLSLPIRLLPEKDDAGLPPPKATRGCRLHNCFDYSRCPLTSGFPVYVYDSDQFVFGSYLDPLVKQAFQATARAN
  VYVTENADIACLYVILVGEMQEPVVLRPAELEKQLYSLPHWRTDGHNHVIINLSRKSDTQNLLYNVSTGRAMVAQ
  STFYTVQYRPGFDLVVSPLVHAMSEPNFMEIPPQVPVKRKYLFTFQGEKIESLRSSLQEARSFEEEMEGDPPADY
  DDRIIATLKAVQDSKLDQVLVEFTCKNQPKPSLPTEWALCGEREDRLELLKLSTFALIITPGDPRLVISSGCATR
  LFEALEVGAVPVVLGEQVQLPYQDMLQWNEAALVVPKPRVTEVHFLLRSLSDSDLLAMRRQGRFLWETYFSTADS
  IFNTVLAMIRTRIQIPAAPIREEAAAEIPHRSGKAAGTDPNMADNGDLDLGPVETEPPYASPRYLRNFTLTVTDF
  YRSWNCAPGPFHLFPHTPFDPVLPSEAKFLGSGTGFRPIGGGAGGSGKEFQAALGGNVPREQFTVVMLTYEREEV
  LMNSLERLNGLPYLNKVVVVWNSPKLPSEDLLWPDIGVPIMVVRTEKNSLNNRFLPWNEIETEAILSIDDDAHLR
  HDEIMFGFRVWREARDRIVGFPGRYHAWDIPHQSWLYNSNYSCELSMVLTGAAFFHKYYAYLYSYVMPQAIRDMV
  DEYINCEDIAMNFLVSHITRKPPIKVTSRWTFRCPGCPQALSHDDSHFHERHKCINFFVKVYGYMPLLYTQFRVD
  SVLFKTRLPHDKTKCFKFI

• Structural information:
  • Interpro: IPR004263  IPR040911  IPR015338  IPR029044  
  • STRING: ENSP00000220562
• Other Databases: GeneCards:  EXTL3  Malacards:  EXTL3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IBA	molecular function
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IDA	molecular function
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IDA	biological process
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IDA	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IDA	molecular function
GO:0006486	protein glycosylation	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0001888	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0030307	positive regulation of cell growth	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00534	Glycosaminoglycan biosynthesis - heparan sulfate / heparin

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq