InnateDB Protein
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IDBP-13505.6
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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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ALG1
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Protein Name
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asparagine-linked glycosylation 1, beta-1,4-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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ENSP00000262374
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InnateDB Gene
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IDBG-13503 (ALG1)
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Protein Structure
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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}.
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Subcellular Localization |
Endoplasmic reticulum membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
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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.
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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 4 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
4
[view]
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Protein-Protein |
4
[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:0000030
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mannosyltransferase activity
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GO:0004578
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chitobiosyldiphosphodolichol beta-mannosyltransferase activity
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GO:0016757
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transferase activity, transferring glycosyl groups
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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 |
Q9BT22
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PhosphoSite |
PhosphoSite-Q9BT22
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TrEMBL |
K7EID2
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UniProt Splice Variant |
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Entrez Gene |
56052
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UniGene |
Hs.729936
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RefSeq |
NP_061982
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HUGO |
HGNC:18294
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OMIM |
605907
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CCDS |
CCDS10528
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HPRD |
10437
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IMGT |
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EMBL |
AB019038
AC026458
AK075373
AK298144
AY359073
BC004402
BC031095
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GenPept |
AAH04402
AAH31095
AAQ89432
BAA90748
BAC11576
BAG60420
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