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Aliases & Descriptions for B3GALTL
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| B3GLCT 2, 5 | | B3GTL 1, 2, 3, 5 | | B3Glc-T 1, 2 | | Beta-3-glycosyltransferase-like 3 | | Beta3Glc-T 3 | | EC 2.4.1.- 3 | | Gal-T 2 | | OTTHUMP00000018218 2 | | beta-1,3-glucosyltransferase 2 | | beta3Glc-T 2 |
| | | Descriptions |
|---|
| UDP-GAL:beta-GlcNAc beta-1,3-galactosyltransferase-like 2 | | beta 1,3-galactosyltransferase-like 2 | | beta 3-glycosyltransferase-like 2 |
|
| | Search outside databases for aliases for B3GALTL gene |
Summaries for B3GALTL(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for B3GALTL: The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS). UniProtKB/Swiss-Prot: B3GLT_HUMAN, Q6Y288Function: O-fucosyltransferase that transfers glucose toward fucose with a beta-1,3 linkage. Specifically glucosylates O-linked fucosylglycan on TSP type-1 domains of proteins, thereby contributing to elongation of O-fucosylglycanGene Wiki entry for B3GALTL |
Genomic Location for B3GALTL
(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 B3GALTL gene 
Entrez Gene cytogenetic band: 13q12.3 Ensembl cytogenetic band: 13q12.3 HGNC cytogenetic band: 13q12.3B3GALTL 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 13 GeneLoc Exon Structure GeneLoc location for GC13P030674:
(about GC identifiers)
Start:
|
30,672,112 bp from pter |
End:
|
30,804,413 bp from pter |
Size:
|
132,302 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000013.9 NT_024524.13
| Proteins for B3GALTL
(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: B3GLT_HUMAN, Q6Y288 (See
protein sequence)Recommended Name: Beta-1,3-glucosyltransferase Size: 498 amino acids; 56564 Da
Subcellular location: Endoplasmic reticulum membrane; Single-pass type II membrane protein
Secondary accessions: Q5W0H2 Q6NUI3REFSEQ proteins: NP_919299.3
ENSEMBL proteins: ENSP00000343002
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 B3GALTL: Assays for B3GALTL: | Protein
Domains/ Families for B3GALTL(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 Q6Y288
ProtoNet protein and cluster: Q6Y288 UniProtKB/Swiss-Prot: B3GLT_HUMAN, Q6Y288Similarity: Belongs to the glycosyltransferase 31 family | Gene Function for B3GALTL
(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 vectors (see all 2): NM_194318
Applied Biosystems Silencer® siRNAs for B3GALTL
Sigma-Aldrich siRNA for B3GALTL  Sigma-Aldrich shRNA for B3GALTL  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_194318                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_194318                                  untagged cDNA clones in CMV expression vector (see all 2): NM_194318 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_194318
UniProtKB/Swiss-Prot: B3GLT_HUMAN, Q6Y288Function: O-fucosyltransferase that transfers glucose toward fucose with a beta-1,3 linkage. Specifically glucosylates O-linked fucosylglycan on TSP type-1 domains of proteins, thereby contributing to elongation of O-fucosylglycanEnzyme Number (IUBMB): EC 2.4.1.- 1 Gene Ontology (GO) molecular function term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016757 | transferase activity, transferring glycosyl groups |
IEA | -- | About this table | Pathways & Interactions for B3GALTL
(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
| UniProtKB/Swiss-Prot: B3GLT_HUMAN, Q6Y288Pathway: Protein modification; protein glycosylation 5/9 Interacting proteins for B3GALTL (ENSP000003430023) via UniProtKB, MINT, and/or STRING (see all 9
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005975 | carbohydrate metabolic process |
IEA | -- | | GO:0006004 | fucose metabolic process |
IEA | -- | About this table
|
Drugs & Compounds for B3GALTL(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 B3GALTL 2 Novoseek chemical compound relationships for B3GALTL gene
About this table
|
Transcripts for B3GALTL(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 vectors (see all 2): NM_194318
Sigma-Aldrich siRNA for B3GALTL  Sigma-Aldrich shRNA for B3GALTL  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_194318 REFSEQ mRNAs for B3GALTL gene: NM_194318.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_194318               OriGene GFP tagged cDNA clone in CMV expression vector: NM_194318                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_194318                                  untagged cDNA clones in CMV expression vector (see all 2): NM_194318  Additional cDNA sequence: AB101481.1 AK094979.1 AK291273.1 AY190526.1 BC031597.1 BC032021.1 BC047395.1 BC068595.1 BX647932.1 7 DOTS entries: DT.99928216 DT.454886 DT.100776329 DT.95256020 DT.102836067 DT.92416150 DT.95378561 24/88 AceView cDNA sequences (see all 88
):AV728071 AA453784 CB131854 AA769548 AA463848 F12364 AY190526 BX478032 AV685727 BC032021 BC068595 AA495968 NM_194318 BM845174 BX505413 BV207620 AA947758 BX647932 AA309656 Z44619 AA937150 BC047395 BI460175 AB101481
highest scoring ESTs for B3GALTL:AA495968 AI569766 AA007187 AA453784 AA463335 AA463848 AA769548 AA918673 AA937150 AB101481 Unigene Cluster for B3GALTL: Beta 1,3-galactosyltransferase-like Hs.13205 [show with all ESTs]Unigene Representative Sequence: NM_194318
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for B3GALTL
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ | 21 | |
| SP1: | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | - |   | - |   | |   | - |   | - |   | |   | - |   | - |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | - |   | - |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for B3GALTL
1 Ensembl transcript including schematic representation: ENST00000343307
|
Expression for B3GALTL
(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
| B3GALTL expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for B3GALTL
1 / 2 / 3 8 probe-sets matching B3GALTL gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.13205 UniProtKB/Swiss-Prot: B3GLT_HUMAN, Q6Y288Tissue specificity: Widely expressed, with highest levels in testis and uterus |
Orthologs for B3GALTL
(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 B3GALTL gene from 5/11 species (see all 11
)
About this table Species with no ortholog for B3GALTL
ENSEMBL Gene Tree for B3GALTL | Paralogs for B3GALTL(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for B3GALTL(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 B3GALTL (up to first 250kb)
|
Disorders & Mutations for B3GALTL
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 610308 disorders: 261540 UniProtKB/Swiss-Prot: B3GLT_HUMAN, Q6Y288
Defects in B3GALTL are the cause of Peters-plus syndrome (PPS) [MIM:261540]. PPS is an autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate1 Novoseek disease relationship for B3GALTL gene
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| tumors |
0.00 |
2 |
1384956 (1), 15161001 (1) |
About this table
GeneTests: B3GALTL Peters Plus Syndrome Human Gene Mutation Database: B3GALTL
|
Medical News for B3GALTL(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for B3GALTL (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
| 10/27 PubMed articles for B3GALTL gene (see all 27
):- Molecular cloning and characterization of a novel human beta1,3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain. (PubMed id 16899492)2, 3, 4 Sato T....Narimatsu H. (2006)
- A novel human glycosyltransferase: primary structure and characterization of the gene and transcripts. (PubMed id 12943678)2, 3, 4 Heinonen T.Y.K.... Kainulainen H. (2003)
- Peters plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. (PubMed id 16909395)3, 4 Lesnik Oberstein S.A.... Hennekam R.C.M. (2006)
- Identification and characterization of abeta1,3-glucosyltransferase that synthesizes the Glc-beta1,3-Fuc disaccharide on thrombospondin type 1 repeats. (PubMed id 17032646)2, 3 Kozma K....Hofsteenge J. (2006)
- The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)3, 4 Dunham A.... Ross M.T. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats. (PubMed id 18199743)3 Hess D....Hofsteenge J. (2008)
- Mutation analysis of B3GALTL in Peters Plus syndrome. (PubMed id 18798333)3 Reis L.M....Semina E.V. (2008)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)3 Kimura K.... Sugano S. (2006)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)3 Ota T....Sugano S. (2004)
|
Search for B3GALTL
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing B3GALTL
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing B3GALTL
(According to HUGE)
About This Section
| -- |
Specialized Databases showing B3GALTL(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/ | | GeneReviews | http://www.genetests.org/query?gene=B3GALTL |
|
| | | About This Section
| --
| Services for B3GALTL(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 B3GALTL:

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Incremental update: 13 Oct 2009
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