• Gene id: 56052

Gene Summary

• Gene Symbol: ALG1   Gene   UCSC   Ensembl
• Aliases: CDG1K, HMAT1, HMT-1, HMT1, MT-1, Mat-1, hMat-1
• Gene name: ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
• Alternate names: chitobiosyldiphosphodolichol beta-mannosyltransferase, GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase, GDP-mannose-dolichol diphosphochitobiose mannosyltransferase, asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase), asparagine-l,
• Gene location: 16p13.3 (5071824: 5087378)     Exons: 14     NC_000016.10
• Gene summary(Entrez): The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]
• OMIM: 605660

Protein Summary

• Protein general information: Q9BT22  
  • Name: Chitobiosyldiphosphodolichol beta mannosyltransferase (EC 2.4.1.142) (Asparagine linked glycosylation protein 1 homolog) (Beta 1,4 mannosyltransferase) (GDP Man:GlcNAc2 PP dolichol mannosyltransferase) (GDP mannose dolichol diphosphochitobiose mannosyltra
  • Length: 464  
  • Mass: 52518
• Sequence:

  MAASCLVLLALCLLLPLLLLGGWKRWRRGRAARHVVAVVLGDVGRSPRMQYHALSLAMHGFSVTLLGFCNSKPHD
  ELLQNNRIQIVGLTELQSLAVGPRVFQYGVKVVLQAMYLLWKLMWREPGAYIFLQNPPGLPSIAVCWFVGCLCGS
  KLVIDWHNYGYSIMGLVHGPNHPLVLLAKWYEKFFGRLSHLNLCVTNAMREDLADNWHIRAVTVYDKPASFFKET
  PLDLQHRLFMKLGSMHSPFRARSEPEDPVTERSAFTERDAGSGLVTRLRERPALLVSSTSWTEDEDFSILLAALE
  KFEQLTLDGHNLPSLVCVITGKGPLREYYSRLIHQKHFQHIQVCTPWLEAEDYPLLLGSADLGVCLHTSSSGLDL
  PMKVVDMFGCCLPVCAVNFKCLHELVKHEENGLVFEDSEELAAQLQMLFSNFPDPAGKLNQFRKNLRESQQLRWD
  ESWVQTVLPLVMDT

• Structural information:
  • Interpro: IPR026051  IPR001296  
  • STRING: ENSP00000262374
• Other Databases: GeneCards:  ALG1  Malacards:  ALG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006486	protein glycosylation	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0000030	mannosyltransferase activity	IBA	molecular function
GO:0006486	protein glycosylation	IDA	biological process
GO:0000030	mannosyltransferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0000030	mannosyltransferase activity	TAS	molecular function
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0006486	protein glycosylation	TAS	biological process
GO:0004578	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	IEA	molecular function
GO:0004578	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	TAS	molecular function
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: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:0016020	membrane	HDA	cellular component
GO:0006486	protein glycosylation	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0000030	mannosyltransferase activity	IBA	molecular function
GO:0006486	protein glycosylation	IDA	biological process
GO:0000030	mannosyltransferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0000030	mannosyltransferase activity	TAS	molecular function
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0006486	protein glycosylation	TAS	biological process
GO:0004578	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	IEA	molecular function
GO:0004578	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	TAS	molecular function
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: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:0016020	membrane	HDA	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 disorders of glycosylation type I	KEGG:H00118
Congenital disorders of glycosylation type I	KEGG:H00118
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray