Homo sapiens Protein: ALG1
Summary
InnateDB Protein IDBP-13505.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ALG1
Protein Name asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000262374
InnateDB Gene IDBG-13503 (ALG1)
Protein Structure
UniProt Annotation
Function Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation. Involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man(5) intermediate on the cytoplasmic surface of the ER. {ECO:0000269PubMed:10704531}.
Subcellular Localization Endoplasmic reticulum membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
Disease Associations Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]: 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:14709599, ECO:0000269PubMed:14973778, ECO:0000269PubMed:14973782}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000030 mannosyltransferase activity
GO:0004578 chitobiosyldiphosphodolichol beta-mannosyltransferase activity
GO:0016757 transferase activity, transferring glycosyl groups
Biological Process
GO:0006486 protein glycosylation
GO:0006488 dolichol-linked oligosaccharide biosynthetic process
GO:0008152 metabolic process
GO:0009058 biosynthetic process
GO:0009103 lipopolysaccharide biosynthetic process
GO:0018279 protein N-linked glycosylation via asparagine
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0097502 mannosylation
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR001296 Glycosyl transferase, family 1
PFAM PF00534
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9BT22
PhosphoSite PhosphoSite-Q9BT22
TrEMBL K7EID2
UniProt Splice Variant
Entrez Gene 56052
UniGene Hs.729936
RefSeq NP_061982
HUGO HGNC:18294
OMIM 605907
CCDS CCDS10528
HPRD 10437
IMGT
EMBL AB019038 AC026458 AK075373 AK298144 AY359073 BC004402 BC031095
GenPept AAH04402 AAH31095 AAQ89432 BAA90748 BAC11576 BAG60420