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Aliases for GALNT11 Gene

Aliases for GALNT11 Gene

  • Polypeptide N-Acetylgalactosaminyltransferase 11 2 3 5
  • Polypeptide GalNAc Transferase 11 2 3 4
  • UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide N-Acetylgalactosaminyltransferase 11 (GalNAc-T11) 2 3
  • UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 11 3 4
  • Protein-UDP Acetylgalactosaminyltransferase 11 3 4
  • Pp-GaNTase 11 3 4
  • EC 2.4.1.41 4 61
  • GALNAC-T11 3 4
  • GALNACT11 3

External Ids for GALNT11 Gene

Previous GeneCards Identifiers for GALNT11 Gene

  • GC07P149969
  • GC07P151037
  • GC07P151114
  • GC07P151160
  • GC07P151353
  • GC07P151722
  • GC07P145534

Summaries for GALNT11 Gene

GeneCards Summary for GALNT11 Gene

GALNT11 (Polypeptide N-Acetylgalactosaminyltransferase 11) is a Protein Coding gene. Among its related pathways are O-linked glycosylation and Metabolism of proteins. GO annotations related to this gene include carbohydrate binding and polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is GALNTL5.

UniProtKB/Swiss-Prot for GALNT11 Gene

  • 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).

Gene Wiki entry for GALNT11 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GALNT11 Gene

Genomics for GALNT11 Gene

Regulatory Elements for GALNT11 Gene

Enhancers for GALNT11 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G151867 1 ENCODE dbSUPER 5.9 -157.3 -157321 0.9 TAF1 MAX ZIC2 RAD21 YY1 FOSL1 ZNF316 RNF2 NRF1 FOXA1 LOC644090 RNU6-604P GALNT11 GC07M151865 GC07M151797
GH07G152989 0.6 ENCODE 5 +964.3 964325 1.3 POLR2A TEAD2 PRDM10 SPI1 TEAD3 TRIM28 GALNT11 GC07P152927 LOC101929087
GH07G152024 1.1 ENCODE 0.7 +0.2 193 1.8 HDGF PKNOX1 CREB3L1 ARNT SIN3A DMAP1 ZNF2 FOS ZNF263 SP3 LINC01003 PIR42090 GALNT11
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GALNT11 on UCSC Golden Path with GeneCards custom track

Promoters for GALNT11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000219937 27 1400 HDGF PKNOX1 CREB3L1 ARNT SIN3A DMAP1 ZNF2 FOS ZNF263 ZHX2

Genomic Location for GALNT11 Gene

Chromosome:
7
Start:
152,025,674 bp from pter
End:
152,122,347 bp from pter
Size:
96,674 bases
Orientation:
Plus strand

Genomic View for GALNT11 Gene

Genes around GALNT11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALNT11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GALNT11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALNT11 Gene

Proteins for GALNT11 Gene

  • Protein details for GALNT11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NCW6-GLT11_HUMAN
    Recommended name:
    Polypeptide N-acetylgalactosaminyltransferase 11
    Protein Accession:
    Q8NCW6
    Secondary Accessions:
    • B3KWF4
    • Q6PCD1
    • Q9H6C2
    • Q9H6Z5
    • Q9UDR8

    Protein attributes for GALNT11 Gene

    Size:
    608 amino acids
    Molecular mass:
    68919 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with NOTCH1.
    SequenceCaution:
    • Sequence=BAB15338.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for GALNT11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GALNT11 Gene

Selected DME Specific Peptides for GALNT11 Gene

Q8NCW6:
  • LLRTVHS
  • MAGGLFA
  • GNISERVELRK
  • RTVHSVI
  • VVCPVID
  • VRGGFNWGLHF
  • FLDSHCE
  • NSLRLAHVW
  • PTMAGGL
  • MDIWGGEN
  • WGGENLE
  • KREGLIR
  • PCSRVGH

Post-translational modifications for GALNT11 Gene

  • Glycosylation at Asn428
  • Modification sites at PhosphoSitePlus

Domains & Families for GALNT11 Gene

Gene Families for GALNT11 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NCW6

UniProtKB/Swiss-Prot:

GLT11_HUMAN :
  • There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding.
  • Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
Domain:
  • There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding.
  • The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.
Family:
  • Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
genes like me logo Genes that share domains with GALNT11: view

Function for GALNT11 Gene

Molecular function for GALNT11 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP + N-acetyl-alpha-D-galactosaminyl-polypeptide.
UniProtKB/Swiss-Prot 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).

Enzyme Numbers (IUBMB) for GALNT11 Gene

Gene Ontology (GO) - Molecular Function for GALNT11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity TAS --
GO:0005112 Notch binding IDA 24226769
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with GALNT11: view
genes like me logo Genes that share phenotypes with GALNT11: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GALNT11 Gene

Localization for GALNT11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GALNT11 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GALNT11 gene
Compartment Confidence
golgi apparatus 5
nucleus 3
cytosol 3
mitochondrion 2
extracellular 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GALNT11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GALNT11: view

Pathways & Interactions for GALNT11 Gene

genes like me logo Genes that share pathways with GALNT11: view

Pathways by source for GALNT11 Gene

UniProtKB/Swiss-Prot Q8NCW6-GLT11_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for GALNT11 Gene

Gene Ontology (GO) - Biological Process for GALNT11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0007219 Notch signaling pathway IEA --
GO:0007220 Notch receptor processing ISS --
GO:0007368 determination of left/right symmetry ISS --
GO:0008593 regulation of Notch signaling pathway ISS --
genes like me logo Genes that share ontologies with GALNT11: view

No data available for SIGNOR curated interactions for GALNT11 Gene

Drugs & Compounds for GALNT11 Gene

(3) Drugs for GALNT11 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 34
Uridine-5'-Diphosphate Experimental Pharma 0
calcium Nutra 0

(2) Additional Compounds for GALNT11 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
UDP-N-acetyl-alpha-D-galactosamine
Uridine diphosphate-N-acetylgalactosamine
  • UDP-N-Acetyl-D-galactosamine
  • UDP-N-Acetyl-delta-galactosamine
  • UDP-N-Acetylgalactosamine
  • Uridine 5'-diphospho-N-acetylgalactosamine
  • Uridine diphosphate-N-acetyl-D-galactosamine
7277-98-7
genes like me logo Genes that share compounds with GALNT11: view

Transcripts for GALNT11 Gene

Unigene Clusters for GALNT11 Gene

UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GALNT11 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16
SP1: - - - - -
SP2: -
SP3:
SP4: - - - - -
SP5: - - -
SP6: - - -
SP7:

Relevant External Links for GALNT11 Gene

GeneLoc Exon Structure for
GALNT11
ECgene alternative splicing isoforms for
GALNT11

Expression for GALNT11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GALNT11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GALNT11 Gene

This gene is overexpressed in Liver (68.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GALNT11 Gene



Protein tissue co-expression partners for GALNT11 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GALNT11 Gene:

GALNT11

SOURCE GeneReport for Unigene cluster for GALNT11 Gene:

Hs.647109

mRNA Expression by UniProt/SwissProt for GALNT11 Gene:

Q8NCW6-GLT11_HUMAN
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.

Evidence on tissue expression from TISSUES for GALNT11 Gene

  • Nervous system(4.5)
  • Kidney(4.4)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with GALNT11: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GALNT11 Gene

Orthologs for GALNT11 Gene

This gene was present in the common ancestor of animals.

Orthologs for GALNT11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GALNT11 34 35
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia GALNT11 34 35
  • 90.17 (n)
cow
(Bos Taurus)
Mammalia GALNT11 34 35
  • 88.93 (n)
mouse
(Mus musculus)
Mammalia Galnt11 34 16 35
  • 85.31 (n)
rat
(Rattus norvegicus)
Mammalia Galnt11 34
  • 84.54 (n)
oppossum
(Monodelphis domestica)
Mammalia GALNT11 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GALNT11 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves GALNT11 34 35
  • 77.1 (n)
lizard
(Anolis carolinensis)
Reptilia GALNT11 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia galnt11 34
  • 70.26 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4426 34
zebrafish
(Danio rerio)
Actinopterygii galnt11 35 34
  • 69.1 (n)
OneToOne
sbcb921 34
fruit fly
(Drosophila melanogaster)
Insecta Pgant35A 34 35
  • 52.28 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004429 34
  • 51.52 (n)
worm
(Caenorhabditis elegans)
Secernentea gly-11 34 35
  • 51.4 (n)
Species where no ortholog for GALNT11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GALNT11 Gene

ENSEMBL:
Gene Tree for GALNT11 (if available)
TreeFam:
Gene Tree for GALNT11 (if available)

Paralogs for GALNT11 Gene

Variants for GALNT11 Gene

Sequence variations from dbSNP and Humsavar for GALNT11 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000037351 -- 152,063,792(+) AATCC(G/T)GAGTT intron-variant
rs1000069493 -- 152,110,966(+) ATCCT(C/T)CTGCC intron-variant
rs1000077446 -- 152,101,336(+) CACAG(A/T)CAGAC intron-variant, nc-transcript-variant
rs1000086517 -- 152,075,752(+) GATTG(C/T)GCTGT intron-variant
rs1000087725 -- 152,104,518(+) GTTAC(A/C)TACTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GALNT11 Gene

Variant ID Type Subtype PubMed ID
dgv1338e214 CNV gain 21293372
dgv3695n106 OTHER inversion 24896259
dgv6758n100 CNV gain 25217958
esv1004658 CNV deletion 20482838
esv2671400 CNV deletion 23128226
esv2735443 CNV deletion 23290073
esv3576482 CNV gain 25503493
esv3615497 CNV loss 21293372
nsv1020487 CNV gain 25217958
nsv1021676 CNV gain 25217958
nsv1029778 CNV gain 25217958
nsv1067934 OTHER inversion 25765185
nsv1151906 OTHER inversion 26484159
nsv609044 CNV gain 21841781
nsv609045 CNV gain 21841781
nsv831191 CNV gain 17160897

Variation tolerance for GALNT11 Gene

Residual Variation Intolerance Score: 71.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.54; 64.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GALNT11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GALNT11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GALNT11 Gene

Disorders for GALNT11 Gene

UniProtKB/Swiss-Prot

GLT11_HUMAN
  • Note=Defects in GALNT11 may be a cause of heterotaxy, a congenital heart disease resulting from abnormalities in left-right (LR) body patterning. {ECO:0000269 PubMed:21282601}.

Relevant External Links for GALNT11

Human Genome Epidemiology (HuGE) Navigator
GALNT11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GALNT11

No disorders were found for GALNT11 Gene.

No data available for MalaCards and Genatlas for GALNT11 Gene

Publications for GALNT11 Gene

  1. Functional conservation of subfamilies of putative UDP-N- acetylgalactosamine:polypeptide N-acetylgalactosaminyltransferases in Drosophila, Caenorhabditis elegans, and mammals. One subfamily composed of l(2)35Aa is essential in Drosophila. (PMID: 11925450) Schwientek T. … Clausen H. (J. Biol. Chem. 2002) 2 3 4 64
  2. The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality. (PMID: 24226769) Boskovski M.T. … Khokha M.K. (Nature 2013) 3 4 64
  3. A Japanese-specific allele in the GALNT11 gene. (PMID: 20547088) Yuasa I. … Henke J. (Leg Med (Tokyo) 2010) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for GALNT11 Gene

Sources for GALNT11 Gene

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