• Gene id: 10195

Gene Summary

• Gene Symbol: ALG3   Gene   UCSC   Ensembl
• Aliases: CDG1D, CDGS4, CDGS6, D16Ertd36e, NOT56L, Not56, not
• Gene name: ALG3 alpha-1,3- mannosyltransferase
• Alternate names: dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase, Not56-like protein, asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase), asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase), asp,
• Gene location: 3q27.1 (184258300: 184242300)     Exons: 14     NC_000003.12
• Gene summary(Entrez): This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosyla
• OMIM: 611405

Protein Summary

• Protein general information: Q92685  
  • Name: Dol P Man:Man(5)GlcNAc(2) PP Dol alpha 1,3 mannosyltransferase (EC 2.4.1.258) (Asparagine linked glycosylation protein 3 homolog) (Dol P Man dependent alpha(1 3) mannosyltransferase) (Dolichyl P Man:Man(5)GlcNAc(2) PP dolichyl mannosyltransferase) (Dolich
  • Length: 438  
  • Mass: 50126
• Sequence:

  MAAGLRKRGRSGSAAQAEGLCKQWLQRAWQERRLLLREPRYTLLVAACLCLAEVGITFWVIHRVAYTEIDWKAYM
  AEVEGVINGTYDYTQLQGDTGPLVYPAGFVYIFMGLYYATSRGTDIRMAQNIFAVLYLATLLLVFLIYHQTCKVP
  PFVFFFMCCASYRVHSIFVLRLFNDPVAMVLLFLSINLLLAQRWGWGCCFFSLAVSVKMNVLLFAPGLLFLLLTQ
  FGFRGALPKLGICAGLQVVLGLPFLLENPSGYLSRSFDLGRQFLFHWTVNWRFLPEALFLHRAFHLALLTAHLTL
  LLLFALCRWHRTGESILSLLRDPSKRKVPPQPLTPNQIVSTLFTSNFIGICFSRSLHYQFYVWYFHTLPYLLWAM
  PARWLTHLLRLLVLGLIELSWNTYPSTSCSSAALHICHAVILLQLWLGPQPFPKSTQHSKKAH

• Structural information:
  • Interpro: IPR007873  
  • STRING: ENSP00000380793
• Other Databases: GeneCards:  ALG3  Malacards:  ALG3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0052925	dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0006486	protein glycosylation	IBA	biological process
GO:0000030	mannosyltransferase activity	IEA	molecular function
GO:0030176	integral component of endoplasmic reticulum membrane	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0052925	dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity	IEA	molecular function
GO:0000033	alpha-1,3-mannosyltransferase 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:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0097502	mannosylation	IEA	biological process
GO:0097502	mannosylation	IEA	biological process
GO:0097502	mannosylation	IEA	biological process
GO:0097502	mannosylation	IEA	biological process
GO:0097502	mannosylation	IEA	biological process
GO:0006486	protein glycosylation	IEA	biological process
GO:0000033	alpha-1,3-mannosyltransferase activity	IDA	molecular function
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0006486	protein glycosylation	NAS	biological process

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 disorders of glycosylation type I	KEGG:H00118
Congenital disorders of glycosylation type I	KEGG:H00118
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