InnateDB Protein
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IDBP-387444.5
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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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GALNT11
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Protein Name
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UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)
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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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ENSP00000410093
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InnateDB Gene
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IDBG-49749 (GALNT11)
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Protein Structure
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Function |
Polypeptide N-acetylgalactosaminyltransferase that catalyzes the initiation of protein O-linked glycosylation and is involved in left/right asymmetry by mediating O-glycosylation of NOTCH1. O-glycosylation of NOTCH1 promotes activation of NOTCH1, modulating the balance between motile and immotile (sensory) cilia at the left-right organiser (LRO). Polypeptide N- acetylgalactosaminyltransferases catalyze the transfer of an N- acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Displays the same enzyme activity toward MUC1, MUC4, and EA2 than GALNT1. Not involved in glycosylation of erythropoietin (EPO). {ECO:0000269PubMed:11925450, ECO:0000269PubMed:24226769}.
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Subcellular Localization |
Golgi apparatus membrane {ECO:0000269PubMed:11925450}; Single-pass type II membrane protein {ECO:0000269PubMed:11925450}.
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Disease Associations |
Note=Defects in GALNT11 may be a cause of heterotaxy, a congenital heart disease resulting from abnormalities in left- right (LR) body patterning. {ECO:0000269PubMed:21282601}.
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Tissue Specificity |
Highly expressed in kidney. Expressed at intermediate level in brain, heart and skeletal muscle. Weakly expressed other tissues. In kidney, it is strongly expressed in tubules but not expressed in glomeruli. {ECO:0000269PubMed:11925450}.
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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 0 experimentally validated interaction(s) in this database.
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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 |
IPR001173
Glycosyltransferase 2-like
IPR029044
Nucleotide-diphospho-sugar transferases
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PFAM |
PF00535
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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 |
Q8NCW6
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PhosphoSite |
PhosphoSite-Q8NCW6
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TrEMBL |
C9JMT8
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UniProt Splice Variant |
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Entrez Gene |
63917
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UniGene |
Hs.735576
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RefSeq |
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HUGO |
HGNC:19875
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OMIM |
615130
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CCDS |
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HPRD |
13560
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IMGT |
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EMBL |
AC006017
AK025287
AK026056
AK124934
BC059377
Y12434
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GenPept |
AAD45821
AAH59377
BAB15105
BAB15338
BAG54116
CAC79625
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