Homo sapiens Protein: GALNT11
Summary
InnateDB Protein IDBP-387444.5
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 ENSP00000410093
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.
Gene Ontology

Molecular Function
Accession GO Term
GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity
GO:0005112 Notch binding
GO:0046872 metal ion binding
Biological Process
GO:0007220 Notch receptor processing
GO:0007368 determination of left/right symmetry
GO:0008593 regulation of Notch signaling pathway
GO:0016266 O-glycan processing
GO:0018243 protein O-linked glycosylation via threonine
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0060271 cilium morphogenesis
GO:0061314 Notch signaling involved in heart development
Cellular Component
GO:0000139 Golgi membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR001173 Glycosyltransferase 2-like
IPR029044 Nucleotide-diphospho-sugar transferases
PFAM PF00535
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8NCW6
PhosphoSite PhosphoSite-Q8NCW6
TrEMBL C9JMT8
UniProt Splice Variant
Entrez Gene 63917
UniGene Hs.735576
RefSeq
HUGO HGNC:19875
OMIM 615130
CCDS
HPRD 13560
IMGT
EMBL AC006017 AK025287 AK026056 AK124934 BC059377 Y12434
GenPept AAD45821 AAH59377 BAB15105 BAB15338 BAG54116 CAC79625