InnateDB Protein
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IDBP-65882.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ALG8
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Protein Name
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asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000299626
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InnateDB Gene
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IDBG-65880 (ALG8)
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Protein Structure
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Function |
Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(1)Man(9)GlcNAc(2)-PP-Dol (By similarity). {ECO:0000250}.
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Subcellular Localization |
Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
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Disease Associations |
Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N- glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269PubMed:15235028}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
7
[view]
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Protein-Protein |
3
[view]
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Protein-DNA |
3
[view]
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Protein-RNA |
0
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DNA-DNA |
1
[view]
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0000033
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alpha-1,3-mannosyltransferase activity
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GO:0016758
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transferase activity, transferring hexosyl groups
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR004856
Glycosyl transferase, ALG6/ALG8
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PFAM |
PF03155
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9BVK2
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PhosphoSite |
PhosphoSite-Q9BVK2
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TrEMBL |
E9PR58
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UniProt Splice Variant |
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Entrez Gene |
79053
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UniGene |
Hs.503368
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RefSeq |
NP_076984
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HUGO |
HGNC:23161
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OMIM |
608103
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CCDS |
CCDS8258
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HPRD |
10480
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IMGT |
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EMBL |
AJ224875
AP002520
BC001133
CH471076
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GenPept |
AAH01133
CAA12176
EAW75048
EAW75050
EAW75051
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