InnateDB Protein
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IDBP-485471.3
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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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ALG2
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Protein Name
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asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase 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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ENSP00000417764
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InnateDB Gene
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IDBG-78514 (ALG2)
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Protein Structure
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Function |
Mannosylates Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)- dolichol diphosphate. {ECO:0000269PubMed:12684507}.
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Subcellular Localization |
Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
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Disease Associations |
Congenital disorder of glycosylation 1I (CDG1I) [MIM:607906]: 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:12684507}. 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 23 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
23
[view]
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Protein-Protein |
22
[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 |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001296
Glycosyl transferase, family 1
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PFAM |
PF00534
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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 |
Q9H553
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PhosphoSite |
PhosphoSite-Q9H553
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TrEMBL |
B3KNL8
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UniProt Splice Variant |
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Entrez Gene |
85365
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UniGene |
Hs.40919
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RefSeq |
NP_149078
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HUGO |
HGNC:23159
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OMIM |
607905
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CCDS |
CCDS6739
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HPRD |
09716
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IMGT |
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EMBL |
AB161356
AK027417
AK027814
AK074704
AK074988
AK075172
AL137067
AY358697
BC017876
CH471105
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GenPept |
AAH17876
AAQ89060
BAB55099
BAC11150
BAC11337
BAC11449
BAD11905
BAG51380
CAC07999
EAW58908
EAW58909
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