• Gene id: 79053

Gene Summary

• Gene Symbol: ALG8   Gene   UCSC   Ensembl
• Aliases: CDG1H, PCLD3
• Gene name: ALG8 alpha-1,3-glucosyltransferase
• Alternate names: probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase, HUSSY-02, asparagine-linked glycosylation 8 alpha-13-glucosyltransferase-like protein, asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase), asp,
• Gene location: 11q14.1 (78139652: 78100941)     Exons: 14     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene h
• OMIM: 608103

Protein Summary

• Protein general information: Q9BVK2  
  • Name: Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha 1,3 glucosyltransferase (EC 2.4.1.265) (Asparagine linked glycosylation protein 8 homolog) (Dol P Glc:Glc(1)Man(9)GlcNAc(2) PP dolichyl alpha 1,3 glucosyltransferase) (Dolichyl P Glc:Glc1Man9GlcNAc2 PP
  • Length: 526  
  • Mass: 60088
• Sequence:

  MAALTIATGTGNWFSALALGVTLLKCLLIPTYHSTDFEVHRNWLAITHSLPISQWYYEATSEWTLDYPPFFAWFE
  YILSHVAKYFDQEMLNVHNLNYSSSRTLLFQRFSVIFMDVLFVYAVRECCKCIDGKKVGKELTEKPKFILSVLLL
  WNFGLLIVDHIHFQYNGFLFGLMLLSIARLFQKRHMEGAFLFAVLLHFKHIYLYVAPAYGVYLLRSYCFTANKPD
  GSIRWKSFSFVRVISLGLVVFLVSALSLGPFLALNQLPQVFSRLFPFKRGLCHAYWAPNFWALYNALDKVLSVIG
  LKLKFLDPNNIPKASMTSGLVQQFQHTVLPSVTPLATLICTLIAILPSIFCLWFKPQGPRGFLRCLTLCALSSFM
  FGWHVHEKAILLAILPMSLLSVGKAGDASIFLILTTTGHYSLFPLLFTAPELPIKILLMLLFTIYSISSLKTLFR
  KEKPLFNWMETFYLLGLGPLEVCCEFVFPFTSWKVKYPFIPLLLTSVYCAVGITYAWFKLYVSVLIDSAIGKTKK
  Q

• Structural information:
  • Interpro: IPR039487  IPR004856  
  • STRING: ENSP00000299626
• Other Databases: GeneCards:  ALG8  Malacards:  ALG8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0006490	oligosaccharide-lipid intermediate biosynthetic process	IBA	biological process
GO:0042283	dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase activity	IBA	molecular function
GO:0006487	protein N-linked glycosylation	IBA	biological process
GO:0018279	protein N-linked glycosylation via asparagine	ISS	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006490	oligosaccharide-lipid intermediate biosynthetic process	IEA	biological process
GO:0042283	dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase activity	IEA	molecular function
GO:0016758	transferase activity, transferring hexosyl 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:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0042283	dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase activity	IEA	molecular function
GO:0004583	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006488	dolichol-linked oligosaccharide biosynthetic process	TAS	biological process
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: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:0018279	protein N-linked glycosylation via asparagine	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0097502	mannosylation	IEA	biological process
GO:0006486	protein glycosylation	IEA	biological process
GO:0006487	protein N-linked glycosylation	IMP	biological process
GO:0000033	alpha-1,3-mannosyltransferase activity	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00510	N-Glycan biosynthesis

Diseases

Associated diseases	References
Congenital disorders of glycosylation type I	KEGG:H00118
Congenital disorders of glycosylation type I	KEGG:H00118
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
9572418	Azoospermia, male infertility			71 (27 vasectomized men with azoospermia, 11 vasectomized men with residual spermatozoa, 33 men with azoospermia of primary testicular origin )	Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray