InnateDB Protein
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IDBP-234834.6
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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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ALG3
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Protein Name
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asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)
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Synonyms
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CDG1D; CDGS4; D16Ertd36e; Not56; NOT56L;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000380793
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InnateDB Gene
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IDBG-234832 (ALG3)
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Protein Structure
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Function |
Adds the first Dol-P-Man derived mannose in an alpha-1,3 linkage to Man5GlcNAc2-PP-Dol. {ECO:0000269PubMed:10581255}.
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Subcellular Localization |
Endoplasmic reticulum membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
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Disease Associations |
Congenital disorder of glycosylation 1D (CDG1D) [MIM:601110]: 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:10581255, ECO:0000269PubMed:15840742}. 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 3 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
3
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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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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GO:0052925
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dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR007873
Glycosyltransferase, ALG3
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PFAM |
PF05208
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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 |
Q92685
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PhosphoSite |
PhosphoSite-Q92685
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
10195
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UniGene |
Hs.478481
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RefSeq |
NP_005778
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HUGO |
HGNC:23056
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OMIM |
608750
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CCDS |
CCDS46968
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HPRD |
03067
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IMGT |
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EMBL |
AC061705
AK289361
BC002839
BC004313
Y09022
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GenPept |
AAH02839
AAH04313
BAF82050
CAA70220
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