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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] See more...
Aliases for GALNT17 Gene
Aliases for GALNT17 Gene
- Polypeptide N-Acetylgalactosaminyltransferase 17 2 3 4 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
- Williams-Beuren Syndrome Chromosome Region 17 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
- PpGalNAc-T17 2 3
- EC 2.4.1.41 4 51
- GalNAc-T17 2 3
- GalNAc-T19 2 3
- GalNAc-T5L 2 3
- GALNTL3 2 3
- WBSCR17 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
- GALNACT17 3
- GALNT16 3
- GALNT20 3
- GALNT17 5
External Ids for GALNT17 Gene
- HGNC: 16347
- Entrez Gene: 64409
- Ensembl: ENSG00000185274
- OMIM: 615137
- UniProtKB: Q6IS24
Previous HGNC Symbols for GALNT17 Gene
- WBSCR17
Previous GeneCards Identifiers for GALNT17 Gene
- GC04P172971
Summaries for GALNT17 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 GALNT17 Gene
GALNT17 (Polypeptide N-Acetylgalactosaminyltransferase 17) is a Protein Coding gene. Diseases associated with GALNT17 include Williams-Beuren Syndrome and Autism Spectrum Disorder. Among its related pathways are Mucin type O-glycan biosynthesis and Metabolism of proteins. An important paralog of this gene is GALNT9.
UniProtKB/Swiss-Prot Summary for GALNT17 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.
Additional gene information for GALNT17 Gene
- HGNC(16347)
- Entrez Gene(64409)
- Ensembl(ENSG00000185274)
- OMIM(615137)
- UniProtKB(Q6IS24)
- Open Targets Platform(ENSG00000185274)
- Monarch Initiative
- Search for GALNT17 at DataMed
- Search for GALNT17 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GALNT17 Gene
Genomics for GALNT17 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for GALNT17 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH07J071130 | Promoter/Enhancer | 1.5 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.7 | +0.4 | 383 | 3.7 | KDM1A POLR2A EZH2 RAD21 CTCF TAF1 TBP SP1 | GALNT17 piR-51229 | |
| GH07J071220 | Enhancer | 0.9 | Ensembl ENCODE dbSUPER | 31.8 | +88.6 | 88557 | 1.4 | CTCF KDM1A TCF12 NCOR1 NR2F1 TAL1 PRDM10 ZMYM3 TEAD4 CBFA2T2 | GALNT17 piR-36588-409 piR-50569 | |
| GH07J070645 | Enhancer | 1.5 | UCNEbase FANTOM5 Ensembl ENCODE | 11.5 | -484.7 | -484743 | 5.2 | IKZF2 TRIM22 YY1 DPF2 RELB RUNX3 TCF12 FOS ZNF623 BCL11A | LOC107986708 GALNT17 piR-61253 RF00017-6271 | |
| GH07J071225 | Enhancer | 0.3 | dbSUPER | 42.9 | +89.4 | 89449 | 0.4 | KDM1A ZMYM3 | GALNT17 piR-36588-409 piR-50569 | |
| GH07J071224 | Enhancer | 0.2 | dbSUPER | 42.4 | +92.5 | 92525 | 0.2 | GALNT17 piR-36588-409 piR-50569 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around GALNT17 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GALNT17
Genomic Locations for GALNT17 Gene
Genomic Locations for GALNT17 Gene
- chr7:71,132,144-71,713,600
- (GRCh38/hg38)
- Size:
- 581,457 bases
- Orientation:
- Plus strand
- chr7:70,597,155-71,178,585
- (GRCh37/hg19)
- Size:
- 581,431 bases
- Orientation:
- Plus strand
Genomic View for GALNT17 Gene
Genes around GALNT17 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q11.22 by HGNC
- 7q11.22 by Entrez Gene
- 7q11.22 by Ensembl
GALNT17 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for GALNT17 Gene
Proteins for GALNT17 Gene
-
Protein details for GALNT17 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6IS24-GLT17_HUMAN
- Recommended name:
- Polypeptide N-acetylgalactosaminyltransferase 17
- Protein Accession:
- Q6IS24
- Q8NFV9
- Q9NTA8
Protein attributes for GALNT17 Gene
- Size:
- 598 amino acids
- Molecular mass:
- 67751 Da
- Cofactor:
- Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
- Quaternary structure:
- No Data Available
Selected DME Specific Peptides for GALNT17 Gene
- Q6IS24:
-
- AEVWMDDYK
- LLKEIILVDD
- RVAEVWMD
- IFVNEALS
- KREGLIR
Post-translational modifications for GALNT17 Gene
Other Protein References for GALNT17 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for GALNT17
- Invitrogen Antibodies for GALNT17 (AFLGC-GALNT17)
Protein Products
-
OriGene Purified Proteins for GALNT17
- Search Origene for MassSpec and Protein Over-expression Lysates for GALNT17
- Origene Custom Protein Services for GALNT17
- antibodies-online: Show 11 available WBSCR17 Proteins ranked by validation data
- Compare Top WBSCR17 Proteins
-
Quality Products:
Domains & Families for GALNT17 Gene
Gene Families for GALNT17 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for GALNT17 Gene
- InterPro:
- Blocks:
-
- Ricin B lectin domain
- Glycosyl transferase, family 2
- ProtoNet:
Suggested Antigen Peptide Sequences for GALNT17 Gene
- GenScript: Design optimal peptide antigens:
-
- Williams-Beuren syndrome chromosomal region 17 protein (GLTL3_HUMAN)
- cDNA FLJ76765, highly similar to Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA (Q2L4S5_HUMAN)
- UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 17 (Q58A53_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q6IS24UniProtKB/Swiss-Prot:
GLT17_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.
Function for GALNT17 Gene
Molecular function for GALNT17 Gene
- 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=L-seryl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:23956, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:12788, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:53604, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138; EC=2.4.1.41; Evidence={ECO:0000250|UniProtKB:Q9HCQ5};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=L-threonyl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-threonyl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:52424, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11689, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:87075; EC=2.4.1.41; Evidence={ECO:0000250|UniProtKB:Q9HCQ5};.
Enzyme Numbers (IUBMB) for GALNT17 Gene
Phenotypes From GWAS Catalog for GALNT17 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004653 | polypeptide N-acetylgalactosaminyltransferase activity | IEA | -- |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
| GO:0030246 | carbohydrate binding | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for GALNT17 Gene
- MGI mutant phenotypes for GALNT17:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for GALNT17:
Animal Models for GALNT17 Gene
- MGI Knock Outs for GALNT17:
-
- Galnt17 Galnt17<tm1.1(KOMP)Vlcg>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GALNT17 - Select products 50% OFF >
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-
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miRNA for GALNT17 Gene
- miRTarBase miRNAs that target GALNT17
-
- hsa-miR-6727-3p (MIRT611187)
- hsa-miR-4722-3p (MIRT611188)
- hsa-miR-6752-3p (MIRT611189)
- hsa-miR-3620-3p (MIRT611190)
- hsa-miR-362-3p (MIRT611191)
- hsa-miR-329-3p (MIRT611192)
- hsa-miR-8485 (MIRT614216)
- hsa-miR-6715b-5p (MIRT641061)
- hsa-miR-4269 (MIRT641062)
- hsa-miR-6500-3p (MIRT641063)
- hsa-miR-216b-3p (MIRT641064)
- hsa-miR-5582-5p (MIRT641065)
- hsa-miR-603 (MIRT641066)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GALNT17
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Clone Products
- Applied Biological Materials (abm): Clones for GALNT17 - Select products 50% OFF >
- * GALNT17 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GALNT17
- Addgene plasmids for GALNT17
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GALNT17
Cell Line Products
-
Horizon Cell Lines for GALNT17
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GALNT17 Gene
Localization for GALNT17 Gene
Subcellular locations from UniProtKB/Swiss-Prot for GALNT17 Gene
- Golgi apparatus membrane. Single-pass type II membrane protein.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 4 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| peroxisome | 0 |
- Golgi apparatus (1)
- Nuclear bodies (1)
- Nucleoli (1)
- Nucleoplasm (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0005794 | Golgi apparatus | IEA,IBA | 21873635 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for GALNT17 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Mucin type O-glycan biosynthesis | ||
| 2 | Metabolism of proteins | ||
| 3 | O-linked glycosylation | ||
| 4 | Metabolism | ||
Pathways by source for GALNT17 Gene
4 Reactome pathways for GALNT17 Gene
3 KEGG pathways for GALNT17 Gene
UniProtKB/Swiss-Prot Q6IS24-GLT17_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for GALNT17 Gene
| Symbol | External ID(s) | Details |
|---|---|---|
| C1GALT1 | ||
| C1GALT1C1 | ||
| ST6GALNAC1 | ||
| B3GNT6 | ||
| DPM1 |
GPS-Prot Interaction Network for GALNT17
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006486 | protein glycosylation | IEA | -- |
No data available for SIGNOR curated interactions for GALNT17 Gene
Drugs & Compounds for GALNT17 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Lactosamine |
|
13000-25-4 |
|
|||
| UDP-N-acetyl-alpha-D-galactosamine |
|
|
||||
| Uridine diphosphate-N-acetylgalactosamine |
|
7277-98-7 |
|
Transcripts for GALNT17 Gene
mRNA/cDNA for GALNT17 Gene
- 1 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000333538 3909 nts (view in UCSC)
- ENST00000447516 566 nts (view in UCSC)
- ENST00000467723 3183 nts (view in UCSC)
- ENST00000498380 3653 nts (view in UCSC)
- ENST00000618959 3012 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GALNT17 - Select products 50% OFF >
- * GALNT17 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for GALNT17
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GALNT17
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GALNT17
- Browse OriGene Inhibitory RNA Products For GALNT17
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GALNT17
Clone Products
- Applied Biological Materials (abm): Clones for GALNT17 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GALNT17
- Addgene plasmids for GALNT17
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GALNT17
Relevant External Links for GALNT17 Gene
- GeneLoc Exon Structure for
- GALNT17
Expression for GALNT17 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Gut Tube (Gastrointestinal Tract)
- Bone (Muscoskeletal System)
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GALNT17
mRNA Expression by UniProt/SwissProt for GALNT17 Gene:
Q6IS24-GLT17_HUMAN
Tissue specificity:
Highly expressed in brain and heart. Weakly expressed in kidney, liver, lung and spleen.
Evidence on tissue expression from TISSUES for GALNT17 Gene
- Nervous system(4.8)
Primer Products
-
OriGene qPCR primer pairs for GALNT17
-
OriGene qPCR primer pairs and template standards for GALNT17
No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GALNT17 Gene
Orthologs for GALNT17 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | WBSCR17 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | WBSCR17 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | WBSCR17 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | WBSCR17 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Wbscr17 30 31 |
|
OneToOne | |
| Galnt17 17 |
|
||||
| Rat (Rattus norvegicus) |
Mammalia | Wbscr17 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | WBSCR17 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | WBSCR17 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | wbscr17 30 |
|
||
| Str.13407 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | wbscr17 31 |
|
OneToOne | |
| LOC567794 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG7579 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | gly-8 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
- Species where no ortholog for GALNT17 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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 GALNT17 Gene
- ENSEMBL:
- Gene Tree for GALNT17 (if available)
- TreeFam:
- Gene Tree for GALNT17 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GALNT17: view image
Paralogs for GALNT17 Gene
Variants for GALNT17 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)
Additional Variant Information for GALNT17 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- GALNT17
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GALNT17 Gene
Disorders for GALNT17 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| williams-beuren syndrome |
|
|
| autism spectrum disorder |
|
|
Search GALNT17 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
GLT17_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.
Additional Disease Information for GALNT17
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for GALNT17 Gene
Publications for GALNT17 Gene
- Cloning and expression of a brain-specific putative UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase gene. (PMID: 15744064) Nakamura N … Kurosaka A (Biological & pharmaceutical bulletin 2005) 2 3 23
- Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PMID: 12073013) Merla G … Reymond A (Human genetics 2002) 2 3 4
- A putative polypeptide N-acetylgalactosaminyltransferase/Williams-Beuren syndrome chromosome region 17 (WBSCR17) regulates lamellipodium formation and macropinocytosis. (PMID: 22787146) Nakayama Y … Kurosaka A (The Journal of biological chemistry 2012) 2 3
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
ExternalLinks
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- Browse ELISA Kits
- Invitrogen Antibodies for GALNT17 (AFLGC-GALNT17)
- VectorBuilder Custom and pre-made DNA vectors for GALNT17 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for GALNT17 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for GALNT17 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for GALNT17 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for GALNT17
- Addgene plasmids for GALNT17
- antibodies-online: Show 10 available WBSCR17 Antibodies ranked by validation data
- Compare Top WBSCR17 Antibodies
- antibodies-online: Search results for available WBSCR17 related products ranked by validation data
- antibodies-online: Show 11 available WBSCR17 Proteins ranked by validation data
- Compare Top WBSCR17 Proteins
- Quality Products:
- Horizon Cell Lines for GALNT17
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GALNT17
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GALNT17
- Search GeneCopoeia for miRNA 3'UTR Target clone products for GALNT17
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GALNT17
Sources for GALNT17 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB