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Aliases & Descriptions for WBSCR17
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| DKFZp434I2216 2 | | DKFZp761D2324 2 | | EC 2.4.1.41 3 | | GALNT16 2 | | GALNT20 2 | | GALNTL3 1, 2, 3 |
| | | Descriptions |
|---|
| GalNAc-T-like protein 3 3 | | Polypeptide GalNAc transferase-like protein 3 3 | | Protein-UDP acetylgalactosaminyltransferase-like protein 3 3 | UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like 3 2 | UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 3 3 | UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 2 | | Williams-Beuren syndrome chromosomal region 17 protein 3 | | Williams-Beuren syndrome chromosome region 17 2 | | polypeptide N-acetylgalactosaminyltransferase WBSCR17 2 | | pp-GaNTase-like protein 3 3 | | pp-GalNAc-transferase 20 2 |
|
| | Search outside databases for aliases for WBSCR17 genePrevious GC identifers: GC07P069526 GC07P069238 GC07P069996 GC07P070009 GC07P070042 |
Summaries for WBSCR17(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for WBSCR17: This gene encodes an N-acetylgalactosaminyltransferase, which has 97% sequence identity to the mouse protein. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq] UniProtKB/Swiss-Prot: GLTL3_HUMAN, Q6IS24Function: 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 Location for WBSCR17
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the WBSCR17 gene 
Entrez Gene cytogenetic band: 7q11.23 Ensembl cytogenetic band: 7q11.22 HGNC cytogenetic band: 7q11.23WBSCR17 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07P070235:
(about GC identifiers)
Start:
|
70,235,725 bp from pter |
End:
|
70,816,519 bp from pter |
Size:
|
580,795 bases |
Orientation:
|
plus strand |
1 alternative location:
| Chr7+,CRA_TCAG 69,931,747-70,512,468 |
RefSeq DNA sequence:- NC_000007.12 NT_007758.11 NT_079593.2
| Proteins for WBSCR17
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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 Q9NTA8REFSEQ proteins: NP_071924.1
ENSEMBL proteins: ENSP00000329654
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
4 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for WBSCR17: Assays for WBSCR17: | Protein
Domains/ Families for WBSCR17(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, Q6IS24Domain: 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 subfamilySimilarity: Contains 1 ricin B-type lectin domain | Gene Function for WBSCR17
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_022479
Applied Biosystems Silencer® siRNAs for WBSCR17
Sigma-Aldrich siRNA and siRNA Panels for WBSCR17  Sigma-Aldrich shRNA for WBSCR17  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_022479                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_022479                                  untagged cDNA clone in CMV expression vector: NM_022479 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_022479
UniProtKB/Swiss-Prot: GLTL3_HUMAN, Q6IS24Function: 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-D-galactosamine + polypeptide = UDP + N-acetyl-D-galactosaminyl-polypeptideEnzyme Number (IUBMB): EC 2.4.1.41 5 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004653 | polypeptide N-acetylgalactosaminyltransferase activity |
IEA | -- | | GO:0005509 | calcium ion binding |
IEA | -- | | GO:0005529 | sugar binding |
IEA | -- | | GO:0016757 | transferase activity, transferring glycosyl groups |
IEA | -- | | GO:0030145 | manganese ion binding |
IEA | -- | About this table | Pathways & Interactions for WBSCR17
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 1 Sigma-Aldrich "Your Favorite Gene" Pathway for WBSCR17 (Your Favorite Gene powered by Ingenuity) 
UniProtKB/Swiss-Prot: GLTL3_HUMAN, Q6IS24Pathway: Protein modification; protein glycosylation 5/26 Interacting proteins for WBSCR17 (ENSP000003296543) via UniProtKB, MINT, and/or STRING (see all 26
)About this table
|
Drugs & Compounds for WBSCR17(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for WBSCR17
|
Transcripts for WBSCR17(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_022479
Sigma-Aldrich siRNA and siRNA Panels for WBSCR17  Sigma-Aldrich shRNA for WBSCR17  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_022479 REFSEQ mRNAs for WBSCR17 gene: NM_022479.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_022479               OriGene GFP tagged cDNA clone in CMV expression vector: NM_022479                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_022479                                  untagged cDNA clone in CMV expression vector: NM_022479  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.75101185 DT.101984604 DT.121104424 DT.309955 DT.95089775 DT.121104440 DT.95366035 24/76 AceView cDNA sequences (see all 76
):AK094958 BC067524 AI630990 AK022143 CB152061 BF724687 AI420776 CF271940 AI634540 CD172312 AI692373 AF410457 AK091379 AA349934 AU121279 CD105620 AI151048 AA331184 AX746946 BC069624 BF002954 BM717526 BG818140 AI459324
highest scoring ESTs for WBSCR17:AI972623 AA331184 AA678923 AA984530 AF410457 AI151048 AI307264 AI420776 AI458748 AI459324 Unigene Cluster for WBSCR17: Williams-Beuren syndrome chromosome region 17 Hs.488591 [show with all ESTs]Unigene Representative Sequence: AK126044
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000333538
|
Expression for WBSCR17
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| WBSCR17 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for WBSCR17
1 / 2 / 3 3 probe-sets matching WBSCR17 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TTAGCACTTC
SOURCE GeneReport for Unigene cluster: Hs.488591 UniProtKB/Swiss-Prot: GLTL3_HUMAN, Q6IS24Tissue specificity: Highly expressed in brain and heart. Weakly expressed in kidney, liver, lung and spleen |
Orthologs for WBSCR17
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for WBSCR17 gene from 5/8 species (see all 8
)
About this table Species with no ortholog for WBSCR17
ENSEMBL Gene Tree for WBSCR17 | Paralogs for WBSCR17(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for WBSCR17 gene
- GALNT92 GALNT82 GALNTL42
|
SNPs/Variants for WBSCR17(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for WBSCR17 (up to first 250kb)
|
Disorders & Mutations for WBSCR17
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
| Human Genome Epidemiology Navigator: WBSCR17 (1 document)
|
Medical News for WBSCR17(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for WBSCR17 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10 PubMed articles for WBSCR17 gene: |
Search for WBSCR17
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing WBSCR17
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing WBSCR17
(According to HUGE)
About This Section
| -- |
Specialized Databases showing WBSCR17(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GGDB | http://riodb.ibase.aist.go.jp/rcmg/ggdb/ | | Functional Glycomics Gateway - GTase | http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_500 |
|
| | | About This Section
| --
| Services for WBSCR17(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for WBSCR17:

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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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