Homo sapiens Protein: GALNT11 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-387436.4 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | GALNT11 | ||||||||||||||||||
Protein Name | UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000395122 | ||||||||||||||||||
InnateDB Gene | IDBG-49749 (GALNT11) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
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}. | ||||||||||||||||||
Subcellular Localization | Golgi apparatus membrane {ECO:0000269PubMed:11925450}; Single-pass type II membrane protein {ECO:0000269PubMed:11925450}. | ||||||||||||||||||
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}. | ||||||||||||||||||
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}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000772
Ricin B lectin domain IPR001173 Glycosyltransferase 2-like IPR029044 Nucleotide-diphospho-sugar transferases |
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PFAM |
PF00652
PF14200 PF00535 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00458
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q8NCW6 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q8NCW6 | ||||||||||||||||||
TrEMBL | C9JMT8 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 63917 | ||||||||||||||||||
UniGene | Hs.735576 | ||||||||||||||||||
RefSeq | NP_071370 | ||||||||||||||||||
HUGO | HGNC:19875 | ||||||||||||||||||
OMIM | 615130 | ||||||||||||||||||
CCDS | CCDS5930 | ||||||||||||||||||
HPRD | 13560 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC006017 AK025287 AK026056 AK124934 BC059377 Y12434 | ||||||||||||||||||
GenPept | AAD45821 AAH59377 BAB15105 BAB15338 BAG54116 CAC79625 | ||||||||||||||||||