• Gene id: 79868

Gene Summary

• Gene Symbol: ALG13   Gene   UCSC   Ensembl
• Aliases: CDG1S, CXorf45, EIEE36, GLT28D1, MDS031, TDRD13, YGL047W
• Gene name: ALG13 UDP-N-acetylglucosaminyltransferase subunit
• Alternate names: putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13, N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase, UDP-N-acetylglucosamine transferase subunit ALG13 homolog, asparagine-linked glycosylation 13 homolog, g,
• Gene location: Xq23 (111680740: 111764163)     Exons: 36     NC_000023.11
• Gene summary(Entrez): The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar additi
• OMIM: 300776

Protein Summary

• Protein general information: Q9NP73  
  • Name: Putative bifunctional UDP N acetylglucosamine transferase and deubiquitinase ALG13 (EC 2.4.1.141) (EC 3.4.19.12) (Asparagine linked glycosylation 13 homolog) (Glycosyltransferase 28 domain containing protein 1) (UDP N acetylglucosamine transferase subunit
  • Length: 1137  
  • Mass: 126056
• Sequence:

  MKCVFVTVGTTSFDDLIACVSAPDSLQKIESLGYNRLILQIGRGTVVPEPFSTESFTLDVYRYKDSLKEDIQKAD
  LVISHAGAGSCLETLEKGKPLVVVINEKLMNNHQLELAKQLHKEGHLFYCTCRVLTCPGQAKSIASAPGKCQDSA
  ALTSTAFSGLDFGLLSGYLHKQALVTATHPTCTLLFPSCHAFFPLPLTPTLYKMHKGWKNYCSQKSLNEASMDEY
  LGSLGLFRKLTAKDASCLFRAISEQLFCSQVHHLEIRKACVSYMRENQQTFESYVEGSFEKYLERLGDPKESAGQ
  LEIRALSLIYNRDFILYRFPGKPPTYVTDNGYEDKILLCYSSSGHYDSVYSKQFQSSAAVCQAVLYEILYKDVFV
  VDEEELKTAIKLFRSGSKKNRNNAVTGSEDAHTDYKSSNQNRMEEWGACYNAENIPEGYNKGTEETKSPENPSKM
  PFPYKVLKALDPEIYRNVEFDVWLDSRKELQKSDYMEYAGRQYYLGDKCQVCLESEGRYYNAHIQEVGNENNSVT
  VFIEELAEKHVVPLANLKPVTQVMSVPAWNAMPSRKGRGYQKMPGGYVPEIVISEMDIKQQKKMFKKIRGKEVYM
  TMAYGKGDPLLPPRLQHSMHYGHDPPMHYSQTAGNVMSNEHFHPQHPSPRQGRGYGMPRNSSRFINRHNMPGPKV
  DFYPGPGKRCCQSYDNFSYRSRSFRRSHRQMSCVNKESQYGFTPGNGQMPRGLEETITFYEVEEGDETAYPTLPN
  HGGPSTMVPATSGYCVGRRGHSSGKQTLNLEEGNGQSENGRYHEEYLYRAEPDYETSGVYSTTASTANLSLQDRK
  SCSMSPQDTVTSYNYPQKMMGNIAAVAASCANNVPAPVLSNGAAANQAISTTSVSSQNAIQPLFVSPPTHGRPVI
  ASPSYPCHSAIPHAGASLPPPPPPPPPPPPPPPPPPPPPPPPPPPALDVGETSNLQPPPPLPPPPYSCDPSGSDL
  PQDTKVLQYYFNLGLQCYYHSYWHSMVYVPQMQQQLHVENYPVYTEPPLVDQTVPQCYSEVRREDGIQAEASAND
  TFPNADSSSVPHGAVYYPVMSDPYGQPPLPGFDSCLPVVPDYSCVPPWHPVGTAYGGSSQIHGAINPGPIGCIAP
  SPPASHYVPQGM

• Structural information:
  • Protein Domains: (231..35-)
    (/note="OTU-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00139-)
    (492..55-)
    (/note="Tudor-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00211"-)
  • Interpro: IPR039042  IPR007235  IPR003323  IPR038765  IPR002999  
  • Prosite: PS50802 PS50304
  • STRING: ENSP00000378260
• Other Databases: GeneCards:  ALG13  Malacards:  ALG13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006488	dolichol-linked oligosaccharide biosynthetic process	IEA	biological process
GO:0016758	transferase activity, transferring hexosyl groups	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008152	metabolic process	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0004577	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006488	dolichol-linked oligosaccharide biosynthetic process	TAS	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00510	N-Glycan biosynthesis
hsa00513	Various types of N-glycan biosynthesis

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Congenital disorders of glycosylation type I	KEGG:H00118
Early infantile epileptic encephalopathy	KEGG:H00606
Congenital disorders of glycosylation type I	KEGG:H00118
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)