• Gene id: 2134

Gene Summary

• Gene Symbol: EXTL1   Gene   UCSC   Ensembl
• Aliases: EXTL
• Gene name: exostosin like glycosyltransferase 1
• Alternate names: exostosin-like 1, alpha-N-acetylglucosaminyltransferase II, exostoses (multiple)-like 1, exostosin-L, glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucos,
• Gene location: 1p36.11 (26021774: 26036463)     Exons: 12     NC_000001.11
• Gene summary(Entrez): 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 involv
• OMIM: 601738

Protein Summary

• Protein general information: Q92935  
  • Name: Exostosin like 1 (EC 2.4.1.224) (Exostosin L) (Glucuronosyl N acetylglucosaminyl proteoglycan 4 alpha N acetylglucosaminyltransferase) (Multiple exostosis like protein)
  • Length: 676  
  • Mass: 74697
• Sequence:

  MQSWRRRKSLWLALSASWLLLVLLGGFSLLRLALPPRPRPGASQGWPRWLDAELLQSFSQPGELPEDAVSPPQAP
  HGGSCNWESCFDTSKCRGDGLKVFVYPAVGTISETHRRILASIEGSRFYTFSPAGACLLLLLSLDAQTGECSSMP
  LQWNRGRNHLVLRLHPAPCPRTFQLGQAMVAEASPTVDSFRPGFDVALPFLPEAHPLRGGAPGQLRQHSPQPGVA
  LLALEEERGGWRTADTGSSACPWDGRCEQDPGPGQTQRQETLPNATFCLISGHRPEAASRFLQALQAGCIPVLLS
  PRWELPFSEVIDWTKAAIVADERLPLQVLAALQEMSPARVLALRQQTQFLWDAYFSSVEKVIHTTLEVIQDRIFG
  TSAHPSLLWNSPPGALLALSTFSTSPQDFPFYYLQQGSRPEGRFSALIWVGPPGQPPLKLIQAVAGSQHCAQILV
  LWSNERPLPSRWPETAVPLTVIDGHRKVSDRFYPYSTIRTDAILSLDARSSLSTSEVDFAFLVWQSFPERMVGFL
  TSSHFWDEAHGGWGYTAERTNEFSMVLTTAAFYHRYYHTLFTHSLPKALRTLADEAPTCVDVLMNFIVAAVTKLP
  PIKVPYGKQRQEAAPLAPGGPGPRPKPPAPAPDCINQIAAAFGHMPLLSSRLRLDPVLFKDPVSVQRKKYRSLEK
  P

• Structural information:
  • Interpro: IPR004263  IPR027675  IPR040911  IPR015338  IPR029044  
  • STRING: ENSP00000363398
• Other Databases: GeneCards:  EXTL1  Malacards:  EXTL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015020	glucuronosyltransferase activity	IBA	molecular function
GO:0008375	acetylglucosaminyltransferase activity	IBA	molecular function
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IBA	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:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0001501	skeletal system development	TAS	biological process
GO:0050508	glucuronosyl-N-acetylglucosaminyl-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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

KEGG pathways

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

Diseases

Associated diseases	References
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq