Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

WBSCR17 Gene

protein-coding   GIFtS: 55
GCID: GC07P070597

Williams-Beuren syndrome chromosome region 17
 Explore 2 diseases affiliated with
WBSCR17 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for WBSCR17    

Aliases
for WBSCR17 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Williams-Beuren Syndrome Chromosome Region 171 2     EC 2.4.1.413 8
GALNTL31 2 3     GALNT162
GalNAc-T-Like Protein 32 3     GALNT202
Polypeptide GalNAc Transferase-Like Protein 32 3     Polypeptide N-Acetylgalactosaminyltransferase WBSCR172
Protein-UDP Acetylgalactosaminyltransferase-Like Protein 32 3     Pp-GalNAc-Transferase 202
Williams-Beuren Syndrome Chromosomal Region 17 Protein2 3     Putative Polypeptide N-Acetylgalactosaminyltransferase-Like Protein 32
Pp-GaNTase-Like Protein 32 3     UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase-Like 32
UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase-Like Protein 32 3     UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide
N-Acetylgalactosaminyltransferase 162

External Ids:    HGNC: 163471   Entrez Gene: 644092   Ensembl: ENSG000001852747   UniProtKB: Q6IS243   

Export aliases for WBSCR17 gene to outside databases

Previous GC identifers: GC07P069526 GC07P069238 GC07P069996 GC07P070009 GC07P070042 GC07P070235 GC07P066769


Summaries
for WBSCR17 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for WBSCR17:
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)

UniProtKB/Swiss-Prot: GLTL3_HUMAN, Q6IS24
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 (By similarity)

Gene Wiki entry for WBSCR17


Genomic Views
for WBSCR17 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  NT_079593.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the WBSCR17 gene promoter:
         CUTL1   HNF-1A   GATA-2   MZF-1   E2F-1   E2F   POU2F1   POU2F1a   HNF-1   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 6): WBSCR17 promoter sequence
   Search SABiosciences Chromatin IP Primers for WBSCR17

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WBSCR17


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.22   HGNC cytogenetic band: 7q11.23

WBSCR17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WBSCR17 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P070597:  view genomic region     (about GC identifiers)

Start:
 70,597,155 bp from pter      End:
 71,178,585 bp from pter
Size:
 581,431 bases      Orientation:
 plus strand

1 alternative location:
Chr7+,CRA_TCAG 69,931,747-70,512,469     

Proteins
for WBSCR17 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: GLTL3_HUMAN, Q6IS24 (See protein sequence)
Recommended Name: Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3  
Size: 598 amino acids; 67751 Da
Cofactor: Manganese (By similarity)
Cofactor: Calcium (By similarity)
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)
Secondary accessions: Q8NFV9 Q9NTA8

Explore the universe of human proteins at neXtProt for WBSCR17: NX_Q6IS24

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6IS24

    • 4/5 DME Specific Peptides for WBSCR17 (Q6IS24) (see all 5)
     KREGLIR  RVAEVWMD  IFVNEALS  AEVWMDDYK 

    WBSCR17 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_071924.1  
    ENSEMBL proteins: 
     ENSP00000329654   ENSP00000392019  
    Reactome Protein details: Q6IS24
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: WBSCR17
    OriGene Custom Protein Services for WBSCR17 
    GenScript Custom Purified and Recombinant Proteins Services for WBSCR17
    Novus Biologicals WBSCR17 Protein
    Novus Biologicals WBSCR17 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for WBSCR17

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0016021integral to membrane IEA--


    WBSCR17 for ontologies           About GeneDecksing



    WBSCR17 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for WBSCR17 
    GenScript Custom Superior Antibodies Services for WBSCR17
    Novus Biologicals WBSCR17 Antibody
    Search for Antibodies for WBSCR17 at Abcam  
    Uscn Antibodies for WBSCR17
    Search ThermoFisher Antibodies for WBSCR17

    Assay Products for WBSCR17: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for WBSCR17
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for WBSCR17

    Protein Domains /
    Families
    for WBSCR17 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    WBSCR17 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR000772 Ricin_B_lectin
     IPR001173 Glyco_trans_2

    Graphical View of Domain Structure for InterPro Entry Q6IS24

    ProtoNet protein and cluster: Q6IS24

    2 Blocks protein families:
    IPB000772 Ricin B lectin domain
    IPB001173 Glycosyl transferase


    UniProtKB/Swiss-Prot: GLTL3_HUMAN, Q6IS24
    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 (By
    similarity)
    Domain: The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity (By similarity)
    Similarity: Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily
    Similarity: Contains 1 ricin B-type lectin domain


    Function
    for WBSCR17 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: GLTL3_HUMAN, Q6IS24
    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 (By similarity)
    Catalytic activity: UDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP +
    N-acetyl-alpha-D-galactosaminyl-polypeptide

    Enzyme Number (IUBMB): EC 2.4.1.411 2

    miRNA
    Products:            		 OriGene 3'-UTR Clone: WBSCR17
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat WBSCR17
    8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate WBSCR17 (see all 26):
    hsa-miR-302d hsa-miR-520e hsa-miR-362-3p hsa-miR-302e hsa-miR-1285 hsa-miR-3125 hsa-miR-3916 hsa-miR-520a-3p
    SwitchGear 3'UTR luciferase reporter plasmid: WBSCR17 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for WBSCR17 (see all 7)
    OriGene shRNA RFP: WBSCR17
    OriGene siRNA: WBSCR17
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat WBSCR17

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for WBSCR17

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for WBSCR17 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for WBSCR17
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: WBSCR17 (NM_022479)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for WBSCR17
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WBSCR17 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for WBSCR17
    Search LifeMap BioReagents cell lines for WBSCR17

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WBSCR17

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004653polypeptide N-acetylgalactosaminyltransferase activity IEA--
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0030246carbohydrate binding ----


    WBSCR17 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for WBSCR17:
     Increased 8N DNA content  Large nuclei 


    Pathways & Interactions
    for WBSCR17 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Addition of GalNAc to the Tn antigen via an alpha-1,6 linkage forms a Core 7 glycoprotein
    		O-linked glycosylation of mucins0.28
    		Mucin type O-Glycan biosynthesis0.00
    2Asparagine N-linked glycosylation
    		Post-translational protein modification0.44
    		Metabolism of proteins0.15
    3Metabolism
    		Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3        Reactome Pathways for WBSCR17
        O-linked glycosylation of mucins
    Metabolism of proteins
    Post-translational protein modification


    2         Kegg Pathways  (Kegg details for WBSCR17):
        Mucin type O-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: GLTL3_HUMAN, Q6IS24
    Pathway: Protein modification; protein glycosylation


    WBSCR17 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for WBSCR17

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5 Interacting proteins for WBSCR17 (ENSP000003296544) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    B3GNT6ENSP000003462564STRING: ENSP00000346256
    C1GALT1ENSP000002231224STRING: ENSP00000223122
    C1GALT1C1ENSP000003043644STRING: ENSP00000304364
    GCNT1ENSP000003659204STRING: ENSP00000365920
    ST6GALNAC1ENSP000001566264STRING: ENSP00000156626
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006486protein glycosylation IEA--


    WBSCR17 for ontologies           About GeneDecksing



    Drugs & Compounds
    for WBSCR17 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for WBSCR17

    3 HMDB Compounds for WBSCR17    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Manganesemanganese 7439-96-5--
    Uridine diphosphate-N-acetylgalactosamineUDP-N-acetyl-D-galactosamine (see all 17)7277-98-7--
    Search CenterWatch for drugs/clinical trials and news about WBSCR17 / GLTL3 

    Transcripts
    for WBSCR17 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for WBSCR17 gene: 
    NM_022479.2  

    Unigene Cluster for WBSCR17:

    Williams-Beuren syndrome chromosome region 17
    Hs.488591  [show with all ESTs]
    Unigene Representative Sequence: AK126044
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000333538(uc003tvy.3) ENST00000498380 ENST00000447516 ENST00000467723(uc003tvz.3)


    miRNA
    Products:             		 OriGene 3'-UTR Clone: WBSCR17
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat WBSCR17
    8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate WBSCR17 (see all 26):
    hsa-miR-302d hsa-miR-520e hsa-miR-362-3p hsa-miR-302e hsa-miR-1285 hsa-miR-3125 hsa-miR-3916 hsa-miR-520a-3p
    SwitchGear 3'UTR luciferase reporter plasmid: WBSCR17 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for WBSCR17 (see all 7)
    OriGene shRNA RFP: WBSCR17
    OriGene siRNA: WBSCR17
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat WBSCR17
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for WBSCR17 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for WBSCR17
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: WBSCR17 (NM_022479)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for WBSCR17
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WBSCR17 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for WBSCR17
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat WBSCR17
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat WBSCR17
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat WBSCR17

    Additional cDNA sequence: 

    AB078148.1 AF410457.1 AJ626726.1 AK022143.1 AK091379.1 AK094958.1 AK096991.1 AK126044.1 
    AK290036.1 AL137431.1 BC067524.1 BC067525.1 BC069624.1 BC069628.1 BC069636.1 BC069645.1 
    BC069997.1 CR749675.1 

    8 DOTS entries:

    DT.95106831  DT.101984604  DT.121104424  DT.75101185  DT.309955  DT.95089775  DT.121104440  DT.95366035 

    24/76 AceView cDNA sequences (see all 76):

    BF724687 CR749675 CD172312 BC069624 AA349934 BM717526 AI420776 CF271940 
    AI151048 AA331184 AI692373 BC069645 NM_022479 BF002954 CB152061 BC069628 
    AK094958 BC069636 BG818140 AI631036 AI459324 BM930412 AU121279 AK091379 

    GeneLoc Exon Structure


    Expression
    for WBSCR17 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    WBSCR17 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTAGCACTTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    WBSCR17 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainCerebral CortexBrain
    Neural TubeDiencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)

    See WBSCR17 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for WBSCR17

    SOURCE GeneReport for Unigene cluster: Hs.488591

    UniProtKB/Swiss-Prot: GLTL3_HUMAN, Q6IS24
    Tissue specificity: Highly expressed in brain and heart. Weakly expressed in kidney, liver, lung and spleen

        SABiosciences Custom PCR Arrays for WBSCR17
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for WBSCR17
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat WBSCR17
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat WBSCR17
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat WBSCR17
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WBSCR17

    Orthologs
    for WBSCR17 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for WBSCR17 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves WBSCR171 Williams-Beuren syndrome chromosome region 17 83.84(n)
    94.98(a)    		   417480  XM_415728.3  XP_415728.2 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    		 --
    		 95(a)
    91(a)
    		 1 ↔ many
    1 ↔ many
    		 GL344408.1(45418-57931)
    GL343583.1(101357-131629)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia Str.134072 Transcribed sequence with moderate similarity to protein more 75.12(n)    BX731048.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC5677941 putative polypeptide N-acetylgalactosaminyltransferase-like more 68.8(n)
    71.84(a)    		   567794  XM_691097.4  XP_696189.4 
    fruit fly
    (Drosophila melanogaster)    		 Insecta GalNAc-T16
    		 GalNAc-T1
    		 29(a)
    		 1 → many
    		 2R(11399215-11403102)
    worm
    (Caenorhabditis elegans)    		 Secernentea gly-96
    		 Probable N-acetylgalactosaminyltransferase 9
    		 30(a)
    		 1 → many
    		 III(11279036-11290481)


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

    Paralogs
    for WBSCR17 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for WBSCR17 gene
    GALNT92  GALNT182  GALNT82  GALNT152  
    18/26 SIMAP similar genes for WBSCR17 using alignment to 3 protein entries:     GLTL3_HUMAN (see all proteins) (see all similar genes):
    DKFZp434I2216    GALNT19    GALNTL4    GALNT9    GALNT8    GALNT3
    GALNTL6    GALNT1    GALNT5    GALNTL5    GALNT14    GALNT12
    GalNAc-T10    GALNT10    GALNT7    GALNT13    POC1B-GALNT4    GALNT11

    WBSCR17 for paralogs           About GeneDecksing



    Genomic Variants
    for WBSCR17 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/11606 NCBI SNPs in WBSCR17 are shown (see all 11606)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1468969541,2
    		--70595804(+) ACTATG/TTTTTT 1 -- us2k10--------
    rs1392515801,2
    		--70595857(+) CACAGA/GCAAAA 1 -- us2k10--------
    rs1448689611,2
    		--70595876(+) AGAAA-/CCAA  
     GCCCCAG    AAAAA     		1 -- us2k10--------
    rs1498304671,2
    		--70595880(+) ACCAA-/GCCCC 
                AGAAA     		1 -- us2k10--------
    rs1845566311,2
    		--70595903(+) ACAACA/CGCAAA 1 -- us2k10--------
    rs284853921,2
    		C,F,--70595906(+) ACCGCG/AAAAAC 1 -- us2k16Minor allele frequency- A:0.41WA CSA NA EA 364
    rs1901424291,2
    		--70595932(+) AATGAC/GATCAA 1 -- us2k10--------
    rs1150110061,2
    		C,--70596024(+) CCCAAG/TGAATT 1 -- us2k10--------
    rs1504410491,2
    		--70596121(+) AGGAGC/TCAAAT 1 -- us2k10--------
    rs132305861,2
    		C,F,--70596239(+) ACGCCC/GGGCCT 1 -- us2k18Minor allele frequency- G:0.25NA WA CSA 250

    HapMap Linkage Disequilibrium report for WBSCR17 (70597155 - 70847155 bp, first 250kb of WBSCR17)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 26 variations for WBSCR17
         15/18 CNVs (see all 18): 82017 94582 82010 94583 94581 94593 94590 94588 94587 82011 82012 94589 82009 94586 82013
         8 Indels: 94585 94592 94591 47391 82014 28682 82016 82015

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing WBSCR17
    DNA2.0 Custom Variant and Variant Library Synthesis for WBSCR17

    Disorders / Diseases
    for WBSCR17 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    WBSCR17 for disorders           About GeneDecksing

    UniProtKB/Swiss-Prot: GLTL3_HUMAN, Q6IS24
  • 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

    2 diseases for WBSCR17:    About MalaCards
    williams-beuren syndrome    williams syndrome

    1 disease from the University of Copenhagen DISEASES database for WBSCR17:
    Williams-Beuren syndrome
    Human Genome Epidemiology (HuGE) Navigator: WBSCR17 (2 documents)

    Export disorders for WBSCR17 gene to outside databases

    Publications
    for WBSCR17 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for WBSCR17 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with WBSCR17)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PubMed id 12073013)1, 2, 3 Merla G....Reymond A. (2002)
    2. Cloning and expression of a brain-specific putative U DP-GalNAc: polypeptide N-acetylgalactosaminyltransferase gene. (PubMed id 15744064)1, 3, 9 Nakamura N....Kurosaka A. (2005)
    3. A putative polypeptide N-acetylgalactosaminyltransfera se/Williams-Beuren syndrome chromosome region 17 (WBSCR17) regulates lamellipodi um formation and macropinocytosis. (PubMed id 22787146)1, 3 Nakayama Y....Kurosaka A. (2012)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker. (PubMed id 22566498)1 Turner S.T....Boerwinkle E. (2012)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    7. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1 Trynka G....Wijmenga C. (2009)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    10. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1 Scherer S.W.... Tsui L.-C. (2003)

    External Searches for WBSCR17 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing WBSCR17 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64409 HGNC: 16347 AceView: WBSCR17 Ensembl:ENSG00000185274 euGenes: HUgn64409
    ECgene: WBSCR17 Kegg: 64409 H-InvDB: WBSCR17

    Other Databases showing WBSCR17 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing WBSCR17 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for WBSCR17 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_500

    Intellectual Property
    for WBSCR17 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for WBSCR17 gene:
    Search GeneIP for patents involving WBSCR17

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for WBSCR17 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for WBSCR17  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for WBSCR17   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for WBSCR17  
     OriGene Protein Over-expression Lysate for WBSCR17   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for WBSCR17   OriGene 3'-UTR Clone for WBSCR17  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for WBSCR17   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for WBSCR17  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for WBSCR17   OriGene Custom Protein Services for WBSCR17  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat WBSCR17
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing WBSCR17
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WBSCR17
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat WBSCR17
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat WBSCR17
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat WBSCR17
     GenScript Custom Purified and Recombinant Proteins Services for WBSCR17 GenScript cDNA clones with any tag delivered in your preferred vector for WBSCR17
     GenScript Custom Assay Services for WBSCR17 GenScript Custom Superior Antibodies Services for WBSCR17
     GenScript Custom overexpressing Cell Line Services for WBSCR17 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in WBSCR17 promoter
     Search Chromatin IP Primers for WBSCR17
     RT2 qPCR Primer Assay in human, mouse, rat WBSCR17
     Search GNC Networks for WBSCR17
     SABiosciences Custom PCR Arrays for WBSCR17
     Search Tocris compounds for WBSCR17
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     WBSCR17 antibodies
     WBSCR17 proteins
     WBSCR17 lysates
     Search for Antibodies for WBSCR17 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for WBSCR17
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     WBSCR17 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for WBSCR17
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WBSCR17
     SwitchGear 3'UTR luciferase reporter plasmids for WBSCR17
     SwitchGear Promoter luciferase reporter plasmids for WBSCR17
     Search ThermoFisher Antibodies for WBSCR17
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WBSCR17
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      WBSCR17 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4