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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 63
  • GALNTL3 3 4
  • UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide N-Acetylgalactosaminyltransferase 16 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. Among its related pathways are Metabolism 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 GALNT9.

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

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

Proteomics data for WBSCR17 Gene at MOPED

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 --
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

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

No data available for Gene Ontology (GO) - Cellular Components for WBSCR17 Gene

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.

Interacting Proteins for WBSCR17 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000329654%0d%0a9606.ENSP00000223122%0d%0a9606.ENSP00000156626%0d%0a9606.ENSP00000304364%0d%0a9606.ENSP00000365920%0d%0a
Selected Interacting proteins: ENSP00000329654 for WBSCR17 Gene via STRING

Gene Ontology (GO) - Biological Process for WBSCR17 Gene

None

No data available for SIGNOR curated interactions for WBSCR17 Gene

Drugs & Compounds for WBSCR17 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Montelukast Approved Pharma Antagonist 264
Uridine-5'-Diphosphate Experimental Pharma 0
Manganese Pharma 32
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:

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



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

Protein tissue co-expression partners for WBSCR17 Gene

- Elite partner

Primer Products

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia WBSCR17 36
  • 100 (a)
OneToOne
WBSCR17 35
  • 99.39 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia WBSCR17 36
  • 98 (a)
OneToOne
WBSCR17 35
  • 92.2 (n)
  • 98.16 (a)
dog
(Canis familiaris)
Mammalia WBSCR17 35
  • 92.81 (n)
  • 98.83 (a)
WBSCR17 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wbscr17 16
Wbscr17 35
  • 89.52 (n)
  • 98.49 (a)
Wbscr17 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia WBSCR17 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WBSCR17 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wbscr17 35
  • 89.52 (n)
  • 98.83 (a)
chicken
(Gallus gallus)
Aves WBSCR17 35
  • 83.84 (n)
  • 94.98 (a)
WBSCR17 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 91 (a)
OneToMany
-- 36
  • 94 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.13407 35
wbscr17 35
  • 74.69 (n)
  • 88.96 (a)
zebrafish
(Danio rerio)
Actinopterygii wbscr17 36
  • 69 (a)
OneToOne
LOC567794 35
  • 68.75 (n)
  • 71.84 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7579 36
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gly-8 36
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
ManyToMany
Species with no ortholog for WBSCR17:
  • 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
rs473362 -- 71,694,241(-) gggag(A/G)gacca intron-variant
rs473783 -- 71,668,046(-) tgagg(C/T)gggag intron-variant
rs584238 -- 71,672,442(-) TTTAA(A/T)ATTTA intron-variant
rs588543 -- 71,681,923(-) ACAAA(C/T)AAAAA intron-variant
rs488379 -- 71,681,771(-) GTTTT(G/T)GATTA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv519090 CNV Gain 19592680
esv2657279 CNV Deletion 23128226
esv27189 CNV Loss 19812545
nsv888343 CNV Loss 21882294
esv274111 CNV Insertion 20981092
esv2677113 CNV Deletion 23128226
esv2674689 CNV Deletion 23128226
esv274007 CNV Insertion 20981092
esv2734648 CNV Deletion 23290073
esv2662410 CNV Deletion 23128226
esv2674218 CNV Deletion 23128226
nsv516049 CNV Gain 19592680
esv2734649 CNV Deletion 23290073
esv2668886 CNV Deletion 23128226
esv2734651 CNV Deletion 23290073
esv2734652 CNV Deletion 23290073
nsv5788 CNV Insertion 18451855
esv1006919 CNV Insertion 20482838
esv1489524 CNV Deletion 17803354
esv2131076 CNV Deletion 18987734
esv1136909 CNV Deletion 17803354
esv2734653 CNV Deletion 23290073

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

HapMap Linkage Disequilibrium report
WBSCR17

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

Disorders for WBSCR17 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger 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. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PMID: 12073013) Merla G. … Reymond A. (Hum. Genet. 2002) 2 3 4 67
  2. 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 23
  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
  4. Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment. (PMID: 24939585) Fransen E. … Friedman R.A. (Eur. J. Hum. Genet. 2015) 3
  5. Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. (PMID: 23377640) (Am J Psychiatry 2013) 3

Products for WBSCR17 Gene

Sources for WBSCR17 Gene

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