InnateDB Protein
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IDBP-477901.3
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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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ALG11
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Protein Name
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asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)
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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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ENSP00000430236
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InnateDB Gene
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IDBG-401899 (ALG11)
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Protein Structure
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Function |
Mannosyltransferase involved in the last steps of the synthesis of Man5GlcNAc(2)-PP-dolichol core oligosaccharide on the cytoplasmic face of the endoplasmic reticulum. Catalyzes the addition of the 4th and 5th mannose residues to the dolichol- linked oligosaccharide chain. {ECO:0000269PubMed:20080937}.
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Subcellular Localization |
Endoplasmic reticulum {ECO:0000269PubMed:20080937}. Endoplasmic reticulum membrane {ECO:0000305PubMed:20080937}; Multi-pass membrane protein {ECO:0000305PubMed:20080937}.
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Disease Associations |
Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]: 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:20080937, ECO:0000269PubMed:22213132}. 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 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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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:0004377
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GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-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 |
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 |
Q2TAA5
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PhosphoSite |
PhosphoSite-Q2TAA5
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
440138
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UniGene |
Hs.732220
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RefSeq |
NP_001004127
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HUGO |
HGNC:32456
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OMIM |
613666
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CCDS |
CCDS31977
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HPRD |
11265
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IMGT |
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EMBL |
AK296747
AL139082
BC010857
BC073862
BC111022
BC142998
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GenPept |
AAH10857
AAH73862
AAI11023
AAI42999
BAG59331
CAI12890
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