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Aliases for WBSCR17 Gene

Aliases for WBSCR17 Gene

  • Williams-Beuren Syndrome Chromosome Region 17 2 3 5
  • UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase-Like Protein 3 3 4
  • Protein-UDP Acetylgalactosaminyltransferase-Like Protein 3 3 4
  • Williams-Beuren Syndrome Chromosomal Region 17 Protein 3 4
  • Polypeptide N-Acetylgalactosaminyltransferase-Like 3 2 3
  • Polypeptide GalNAc Transferase-Like Protein 3 3 4
  • Polypeptide GalNAc Transferase 3 2 3
  • Pp-GaNTase-Like Protein 3 3 4
  • GalNAc-T-Like Protein 3 3 4
  • EC 2.4.1.41 4 61
  • GALNTL3 3 4
  • UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide N-Acetylgalactosaminyltransferase 16 3
  • Putative Polypeptide N-Acetylgalactosaminyltransferase-Like Protein 3 3
  • UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase-Like 3 3
  • Polypeptide N-Acetylgalactosaminyltransferase WBSCR17 3
  • Pp-GalNAc-Transferase 20 3
  • GalNAc-T5L 3
  • GALNACT17 3
  • GALNT16 3
  • GALNT20 3

External Ids for WBSCR17 Gene

Previous GeneCards Identifiers for WBSCR17 Gene

  • GC07P069526
  • GC07P069238
  • GC07P069996
  • GC07P070009
  • GC07P070042
  • GC07P070235
  • GC07P070597
  • GC07P066769

Summaries for WBSCR17 Gene

Entrez Gene Summary for WBSCR17 Gene

  • This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]

GeneCards Summary for WBSCR17 Gene

WBSCR17 (Williams-Beuren Syndrome Chromosome Region 17) is a Protein Coding gene. Diseases associated with WBSCR17 include Williams-Beuren Syndrome and Chromosomal Deletion Syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and O-linked glycosylation. GO annotations related to this gene include carbohydrate binding and polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is GALNT18.

UniProtKB/Swiss-Prot for WBSCR17 Gene

  • May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.

Gene Wiki entry for WBSCR17 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WBSCR17 Gene

Genomics for WBSCR17 Gene

Regulatory Elements for WBSCR17 Gene

Enhancers for WBSCR17 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around WBSCR17 on UCSC Golden Path with GeneCards custom track

Promoters for WBSCR17 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for WBSCR17 Gene

Chromosome:
7
Start:
71,132,169 bp from pter
End:
71,713,601 bp from pter
Size:
581,433 bases
Orientation:
Plus strand

Genomic View for WBSCR17 Gene

Genes around WBSCR17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WBSCR17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WBSCR17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WBSCR17 Gene

Proteins for WBSCR17 Gene

  • Protein details for WBSCR17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6IS24-GLTL3_HUMAN
    Recommended name:
    Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3
    Protein Accession:
    Q6IS24
    Secondary Accessions:
    • Q8NFV9
    • Q9NTA8

    Protein attributes for WBSCR17 Gene

    Size:
    598 amino acids
    Molecular mass:
    67751 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

neXtProt entry for WBSCR17 Gene

Selected DME Specific Peptides for WBSCR17 Gene

Post-translational modifications for WBSCR17 Gene

  • Glycosylation at Asn 50, Asn 461, and Asn 486
  • Modification sites at PhosphoSitePlus

Other Protein References for WBSCR17 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for WBSCR17 Gene

Gene Families for WBSCR17 Gene

Graphical View of Domain Structure for InterPro Entry

Q6IS24

UniProtKB/Swiss-Prot:

GLTL3_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.
  • Contains 1 ricin B-type lectin domain.
Family:
  • Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
genes like me logo Genes that share domains with WBSCR17: view

Function for WBSCR17 Gene

Molecular function for WBSCR17 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP + N-acetyl-alpha-D-galactosaminyl-polypeptide.
UniProtKB/Swiss-Prot Function:
May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.

Enzyme Numbers (IUBMB) for WBSCR17 Gene

Gene Ontology (GO) - Molecular Function for WBSCR17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity IEA --
GO:0030246 carbohydrate binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with WBSCR17: view
genes like me logo Genes that share phenotypes with WBSCR17: view

Animal Models for WBSCR17 Gene

MGI Knock Outs for WBSCR17:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for WBSCR17 Gene

Localization for WBSCR17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WBSCR17 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for WBSCR17 Gene COMPARTMENTS Subcellular localization image for WBSCR17 gene
Compartment Confidence
golgi apparatus 5
endoplasmic reticulum 1
endosome 1
extracellular 1
lysosome 1
peroxisome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for WBSCR17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with WBSCR17: view

Pathways & Interactions for WBSCR17 Gene

genes like me logo Genes that share pathways with WBSCR17: view

Pathways by source for WBSCR17 Gene

UniProtKB/Swiss-Prot Q6IS24-GLTL3_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for WBSCR17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
genes like me logo Genes that share ontologies with WBSCR17: view

No data available for SIGNOR curated interactions for WBSCR17 Gene

Drugs & Compounds for WBSCR17 Gene

(4) Drugs for WBSCR17 Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
montelukast Approved Pharma Antagonist 266
Manganese Approved Nutra 33
Uridine-5'-Diphosphate Experimental Pharma 0
calcium Nutra 0

(3) Additional Compounds for WBSCR17 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Lactosamine
  • 2-Amino-2-deoxy-4-O-beta-D-galactopyranosyl-D-glucose
  • 2-Amino-2-deoxy-4-O-beta-delta-galactopyranosyl-delta-glucose
  • beta-D-Galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose
  • beta-D-Galactopyranosyl-(1->4)-D-glucosamine
  • beta-delta-Galactopyranosyl-(1->4)-2-amino-2-deoxy-delta-glucose
13000-25-4
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 WBSCR17: view

Transcripts for WBSCR17 Gene

Unigene Clusters for WBSCR17 Gene

Williams-Beuren syndrome chromosome region 17:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for WBSCR17 Gene

No ASD Table

Relevant External Links for WBSCR17 Gene

GeneLoc Exon Structure for
WBSCR17
ECgene alternative splicing isoforms for
WBSCR17

Expression for WBSCR17 Gene

mRNA expression in normal human tissues for WBSCR17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for WBSCR17 Gene

This gene is overexpressed in Brain - Cortex (x4.8).

Protein differential expression in normal tissues from HIPED for WBSCR17 Gene

This gene is overexpressed in Fetal Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for WBSCR17 Gene



Protein tissue co-expression partners for WBSCR17 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of WBSCR17 Gene:

WBSCR17

SOURCE GeneReport for Unigene cluster for WBSCR17 Gene:

Hs.488591

mRNA Expression by UniProt/SwissProt for WBSCR17 Gene:

Q6IS24-GLTL3_HUMAN
Tissue specificity: Highly expressed in brain and heart. Weakly expressed in kidney, liver, lung and spleen.
genes like me logo Genes that share expression patterns with WBSCR17: view

Primer Products

Orthologs for WBSCR17 Gene

This gene was present in the common ancestor of animals.

Orthologs for WBSCR17 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia WBSCR17 34
  • 92.2 (n)
  • 98.16 (a)
WBSCR17 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia WBSCR17 34
  • 92.81 (n)
  • 98.83 (a)
WBSCR17 35
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wbscr17 34
  • 89.52 (n)
  • 98.49 (a)
Wbscr17 16
Wbscr17 35
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia WBSCR17 34
  • 99.39 (n)
  • 100 (a)
WBSCR17 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wbscr17 34
  • 89.52 (n)
  • 98.83 (a)
oppossum
(Monodelphis domestica)
Mammalia WBSCR17 35
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WBSCR17 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves WBSCR17 34
  • 83.84 (n)
  • 94.98 (a)
WBSCR17 35
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 91 (a)
OneToMany
-- 35
  • 94 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.13407 34
wbscr17 34
  • 74.69 (n)
  • 88.96 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC567794 34
  • 68.75 (n)
  • 71.84 (a)
wbscr17 35
  • 69 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7579 35
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gly-8 35
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
ManyToMany
Species where no ortholog for WBSCR17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 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 WBSCR17 Gene

ENSEMBL:
Gene Tree for WBSCR17 (if available)
TreeFam:
Gene Tree for WBSCR17 (if available)

Paralogs for WBSCR17 Gene

Paralogs for WBSCR17 Gene

genes like me logo Genes that share paralogs with WBSCR17: view

Variants for WBSCR17 Gene

Sequence variations from dbSNP and Humsavar for WBSCR17 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs2103187 -- 71,588,753(+) TGTGT(A/G)GTAAT intron-variant
rs2107795 -- 71,347,739(+) TCAGA(A/G)GGGGC intron-variant
rs2107796 -- 71,343,664(+) CTATT(C/T)TGTTT intron-variant
rs2107797 -- 71,350,490(+) GGATG(A/G)AAAAT intron-variant
rs2107798 -- 71,343,751(+) ATCTT(G/T)TGTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for WBSCR17 Gene

Variant ID Type Subtype PubMed ID
dgv3586n106 CNV duplication 24896259
dgv3587n106 CNV deletion 24896259
dgv6456n100 CNV gain 25217958
esv1006919 CNV insertion 20482838
esv1136909 CNV deletion 17803354
esv1489524 CNV deletion 17803354
esv2131076 CNV deletion 18987734
esv2657279 CNV deletion 23128226
esv2662410 CNV deletion 23128226
esv2668886 CNV deletion 23128226
esv2674218 CNV deletion 23128226
esv2674689 CNV deletion 23128226
esv2677113 CNV deletion 23128226
esv27189 CNV loss 19812545
esv3309735 CNV mobile element insertion 20981092
esv3309839 CNV mobile element insertion 20981092
esv3428408 CNV insertion 20981092
esv3541874 CNV deletion 23714750
esv3541878 CNV deletion 23714750
esv3541880 CNV deletion 23714750
esv3613620 CNV loss 21293372
esv3613621 CNV loss 21293372
esv3613624 CNV loss 21293372
esv3613625 CNV loss 21293372
esv3613626 CNV loss 21293372
esv3613628 CNV gain 21293372
esv3613629 CNV loss 21293372
esv3613630 CNV loss 21293372
esv3613631 CNV loss 21293372
esv3613632 CNV loss 21293372
esv3613633 CNV loss 21293372
esv3613634 CNV loss 21293372
esv3891141 CNV loss 25118596
nsv1017575 CNV gain 25217958
nsv1026896 CNV gain 25217958
nsv1033155 CNV loss 25217958
nsv1033783 CNV gain 25217958
nsv1034662 CNV gain 25217958
nsv1078024 CNV duplication 25765185
nsv1109887 CNV deletion 24896259
nsv1114975 CNV deletion 24896259
nsv1126099 CNV deletion 24896259
nsv1128341 CNV deletion 24896259
nsv1129437 OTHER inversion 24896259
nsv1143349 CNV deletion 24896259
nsv1145140 CNV deletion 24896259
nsv1146102 OTHER inversion 26484159
nsv1146702 CNV duplication 26484159
nsv472299 CNV novel sequence insertion 20440878
nsv472375 CNV novel sequence insertion 20440878
nsv473031 CNV novel sequence insertion 20440878
nsv475430 CNV novel sequence insertion 20440878
nsv516049 CNV gain 19592680
nsv519090 CNV gain 19592680
nsv5788 CNV insertion 18451855
nsv950542 CNV deletion 24416366

Variation tolerance for WBSCR17 Gene

Residual Variation Intolerance Score: 4.51% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.92; 19.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WBSCR17 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WBSCR17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WBSCR17 Gene

Disorders for WBSCR17 Gene

MalaCards: The human disease database

(2) MalaCards diseases for WBSCR17 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
chromosomal deletion syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GLTL3_HUMAN
  • Note=WBSCR17 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.

Relevant External Links for WBSCR17

Genetic Association Database (GAD)
WBSCR17
Human Genome Epidemiology (HuGE) Navigator
WBSCR17
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WBSCR17
genes like me logo Genes that share disorders with WBSCR17: view

No data available for Genatlas for WBSCR17 Gene

Publications for WBSCR17 Gene

  1. Cloning and expression of a brain-specific putative UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase gene. (PMID: 15744064) Nakamura N. … Kurosaka A. (Biol. Pharm. Bull. 2005) 2 3 22 65
  2. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PMID: 12073013) Merla G. … Reymond A. (Hum. Genet. 2002) 2 3 4 65
  3. A putative polypeptide N-acetylgalactosaminyltransferase/Williams-Beuren syndrome chromosome region 17 (WBSCR17) regulates lamellipodium formation and macropinocytosis. (PMID: 22787146) Nakayama Y. … Kurosaka A. (J. Biol. Chem. 2012) 2 3 65
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 46 65

Products for WBSCR17 Gene

Sources for WBSCR17 Gene

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