• Gene id: 199857

Gene Summary

• Gene Symbol: ALG14   Gene   UCSC   Ensembl
• Aliases: CMS15
• Gene name: ALG14 UDP-N-acetylglucosaminyltransferase subunit
• Alternate names: UDP-N-acetylglucosamine transferase subunit ALG14 homolog,
• Gene location: 1p21.3 (95072973: 94974404)     Exons: 8     NC_000001.11
• Gene summary(Entrez): This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this
• OMIM: 612866

Protein Summary

• Protein general information: Q96F25  
  • Name: UDP N acetylglucosamine transferase subunit ALG14 homolog
  • Length: 216  
  • Mass: 24151
• Sequence:

  MVCVLVLAAAAGAVAVFLILRIWVVLRSMDVTPRESLSILVVAGSGGHTTEILRLLGSLSNAYSPRHYVIADTDE
  MSANKINSFELDRADRDPSNMYTKYYIHRIPRSREVQQSWPSTVFTTLHSMWLSFPLIHRVKPDLVLCNGPGTCV
  PICVSALLLGILGIKKVIIVYVESICRVETLSMSGKILFHLSDYFIVQWPALKEKYPKSVYLGRIV

• Structural information:
  • Interpro: IPR013969  
  • STRING: ENSP00000359224
• Other Databases: GeneCards:  ALG14  Malacards:  ALG14

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006488	dolichol-linked oligosaccharide biosynthetic process	IBA	biological process
GO:0043541	UDP-N-acetylglucosamine transferase complex	IBA	cellular component
GO:0006488	dolichol-linked oligosaccharide biosynthetic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006488	dolichol-linked oligosaccharide biosynthetic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
Congenital myasthenic syndrome	KEGG:H00770
Congenital myasthenic syndrome	KEGG:H00770
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq