Gene Gene information from NCBI Gene database.
Entrez ID 63917
Gene name Polypeptide N-acetylgalactosaminyltransferase 11
Gene symbol GALNT11
Synonyms (NCBI Gene)
GALNAC-T11GALNACT11
Chromosome 7
Chromosome location 7q36.1|7q36.1
miRNA miRNA information provided by mirtarbase database.
87
miRTarBase ID miRNA Experiments Reference
MIRT029838 hsa-miR-26b-5p Microarray 19088304
MIRT052104 hsa-let-7b-5p CLASH 23622248
MIRT046225 hsa-miR-27b-3p CLASH 23622248
MIRT526847 hsa-miR-4323 PAR-CLIP 22012620
MIRT526848 hsa-miR-5009-3p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0004653 Function Polypeptide N-acetylgalactosaminyltransferase activity IBA
GO:0004653 Function Polypeptide N-acetylgalactosaminyltransferase activity IDA 24226769
GO:0004653 Function Polypeptide N-acetylgalactosaminyltransferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615130 19875 ENSG00000178234
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NCW6
Protein name Polypeptide N-acetylgalactosaminyltransferase 11 (EC 2.4.1.41) (Polypeptide GalNAc transferase 11) (GalNAc-T11) (pp-GaNTase 11) (Protein-UDP acetylgalactosaminyltransferase 11) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 11)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00535 Glycos_transf_2 154 339 Glycosyl transferase family 2 Family
PF00652 Ricin_B_lectin 481 604 Ricin-type beta-trefoil lectin domain Domain
Tissue specificity 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:0000269|PubMed:1192545
Sequence
MGSVTVRYFCYGCLFTSATWTVLLFVYFNFSEVTQPLKNVPVKGSGPHGPSPKKFYPRFT
RGPSRVLEPQFKANKIDDVIDSRVEDPEEGHLKFSSELGMIFNERDQELRDLGYQKHAFN
MLISDRLGYHRDVPDTRNAACKEKFYPPDLPAASVVICFYNEAFSALLRTVHSVIDRTPA
HLLHEIILVDDDSDFDDLKGELDEYVQKYLPGKIKVIRNTKREGLIRGRMIGAAHATGEV
LVFLDSHCEVNVMWLQPLLAAIREDRHTVVCPVIDIISADTLAYSSSPVVRGGFNWGLHF
KWDLVPLSELGRAEGATAPIKSPTMAGGLFAMNRQYFHE
LGQYDSGMDIWGGENLEISFR
IWMCGGKLFIIPCSRVGHIFRKRRPYGSPEGQDTMTHNSLRLAHVWLDEYKEQYFSLRPD
LKTKSYGNISERVELRKKLGCKSFKWYLDNVYPEMQISGSHAKPQQPIFVNRGPKRPKVL
QRGRLYHLQTNKCLVAQGRPSQKGGLVVLKACDYSDPNQIWIYNEEHELVLNSLLCLDMS
ETRSSDPPRLMKCHGSGGSQQWTFGKNNRLYQVSVGQCLRAVDPLGQKGSVAMAICDGSS
SQQW
HLEG
Sequence length 608
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Mucin type O-glycan biosynthesis
Other types of O-glycan biosynthesis
Metabolic pathways
  O-linked glycosylation of mucins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
GALNT11-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Chronic Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 24076351
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 26620301
★☆☆☆☆
Found in Text Mining only
Congenital Abnormalities Congenital abnormalities Pubtator 29061174 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 29061174 Associate
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 30758710
★☆☆☆☆
Found in Text Mining only
Situs ambiguus Situs ambiguus BEFREE 24226769
★☆☆☆☆
Found in Text Mining only