InnateDB Protein
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IDBP-20681.5
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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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SGK196
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Protein Name
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Protein kinase-like protein SgK196
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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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ENSP00000331258
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InnateDB Gene
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IDBG-20679 (SGK196)
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Protein Structure
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Function |
Protein O-mannose kinase that specifically mediates phosphorylation at the 6-position of an O-mannose of the trisaccharide (N-acetylgalactosamine (GalNAc)-beta-1,3-N- acetylglucosamine (GlcNAc)-beta-1,4-mannose) to generate phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine- beta-1,3-N-acetylglucosamine-beta-1,4-(phosphate-6-)mannose). Phosphorylated O-mannosyl trisaccharide is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Only shows kinase activity when the GalNAc-beta-3-GlcNAc-beta-terminus is linked to the 4-position of O-mannose, suggesting that this disaccharide serves as the substrate recognition motif. {ECO:0000269PubMed:23519211, ECO:0000269PubMed:23929950}.
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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 |
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12) [MIM:615249]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269PubMed:23519211}. 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 |
3
[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:0004672
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protein kinase activity
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GO:0005524
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ATP binding
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GO:0016772
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transferase activity, transferring phosphorus-containing groups
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GO:0016773
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phosphotransferase activity, alcohol group as acceptor
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GO:0019200
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carbohydrate kinase activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000719
Protein kinase domain
IPR001245
Serine-threonine/tyrosine-protein kinase catalytic domain
IPR011009
Protein kinase-like domain
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PFAM |
PF00069
PF07714
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PRINTS |
PR00109
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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 |
Q9H5K3
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PhosphoSite |
PhosphoSite-
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TrEMBL |
E5RJD5
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UniProt Splice Variant |
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Entrez Gene |
84197
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UniGene |
Hs.491646
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RefSeq |
NP_115613
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HUGO |
HGNC:26267
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OMIM |
615247
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CCDS |
CCDS6141
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HPRD |
08668
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IMGT |
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EMBL |
AC113191
AK027009
BC101548
BC113703
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GenPept |
AAI01549
AAI13704
BAB15623
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