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B3GALTL Gene

protein-coding   GIFtS: 53

GC13P030674
beta 1,3-galactosyltransferase-like
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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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
External Ids
HGNC: 202071
Entrez Gene: 1451732
UniProtKB: Q6Y2883
Ensembl: ENSG000001876767
Search outside databases for aliases for B3GALTL gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, Q6Y288
Function: 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-fucosylglycan

Gene Wiki entry 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: 13q12.3

B3GALTL 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  
(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)
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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 Q6NUI3

REFSEQ proteins: NP_919299.3  

ENSEMBL proteins: 
ENSP00000343002 


Human Recombinant Proteins 
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Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (B3GALTL)
Browse Abnova for 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):

GO IDQualified GO termEvidencePubMed IDs
GO:0005783 endoplasmic reticulum IEA--
GO:0005789 endoplasmic reticulum membrane IEA--
GO:0016020 membrane IEA--
GO:0016021 integral to membrane IEA--
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Antibodies for B3GALTL: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for B3GALTL
Browse R&D Systems for Antibodies
Antibodies from Abcam (B3GALTL), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (RP11-367C11.1)
Novus Biologicals Antibody for B3GALTL

Assays for B3GALTL: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro domains/families:
 IPR000886 ER_targeting_sequence
 IPR003378 Fringe-like


   GeneDecks  B3GALTL for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q6Y288

ProtoNet protein and cluster: Q6Y288

UniProtKB/Swiss-Prot: B3GLT_HUMAN, Q6Y288
Similarity: Belongs to the glycosyltransferase 31 family

(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.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (B3GALTL)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               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  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              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, Q6Y288
Function: 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-fucosylglycan
Enzyme Number (IUBMB): EC 2.4.1.- 

1 Gene Ontology (GO) molecular function term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0016757 transferase activity, transferring glycosyl groups IEA--
About this table

(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.)
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UniProtKB/Swiss-Prot: B3GLT_HUMAN, Q6Y288
Pathway: Protein modification; protein glycosylation


5/9 Interacting proteins for B3GALTL (ENSP000003430023) via UniProtKB, MINT, and/or STRING (see all 9 )

InteractantInteraction Details
GeneCardExternal ID(s)
POFUT2ENSP000003396133STRING (score=.853)
B4GALNT1ENSP000003415623STRING (score=.823)
B4GALT1ENSP000003690553STRING (score=.8)
B4GALT6ENSP000003064593STRING (score=.784)
ABOENSP000003135153STRING (score=.768)
About this table

2 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005975 carbohydrate metabolic process IEA--
GO:0006004 fucose metabolic process IEA--
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(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 drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for B3GALTL
2 Novoseek chemical compound relationships for B3GALTL gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
monensin 56.06 6 7690043 (3), 17021253 (3)
n-acetylglucosamine 48.75 2 8444150 (2)
About this table


(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

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (B3GALTL)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               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  
(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


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
63377_at2, 3 U95-C 1 1.00 1.00 0.89 0.96 AL079689 0.80 1.00 0.91 1
44278_at2, 3 U95-B 1 1.00 1.00 0.83 1.01 AA495968 1.00 1.00 1.00 1

47927_at2, 3 U95-B 1 1.00 1.00 0.78 0.76 H06810 0.80 1.00 0.91 1

53811_at2, 3 U95-B 1 1.00 1.00 0.86 1.27 AI569766 1.00 1.00 1.00 1

227100_at2, 3 U133-B 1 1.00 1.00 -- -- AI569766 1.00 1.00 1.00 1

227083_at2, 3 U133-B 1 1.00 1.00 -- -- N51325 0.80 1.00 0.91 1

227100_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

227083_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  B3GALTL for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
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, Q6Y288
Tissue specificity: Widely expressed, with highest levels in testis and uterus

(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 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
B3GALTL1   -- beta 1,3-galactosyltransferase-like 90.41(n)
93.48(a)
486017  XM_543143.2  XP_543143.2 
chimpanzee
(Pan troglodytes)
B3GALTL1   -- beta 1,3-galactosyltransferase-like 99.51(n)
99.58(a)
452523  XM_509616.2  XP_509616.2 
cow
(Bos taurus)
B3GALTL1   -- beta 1,3-galactosyltransferase-like 83.82(n)
89.32(a)
509511  XM_586487.3  XP_586487.3 
rat
(Rattus norvegicus)
B3galtl1   -- beta 1,3-galactosyltransferase-like 82.88(n)
84.68(a)
689765  XM_001071932.1  XP_001071932.1 
mouse
(Mus musculus)
B3galtl1, 5 55
beta 1,3-galactosyltransferase-like1, 5 82.28(n)1
84.66(a)1
3816941  NM_001081204.11  NP_001074673.11 
 AB2537625  AK0834915  (see all 9)
About this table        Species with no ortholog for B3GALTL

ENSEMBL Gene Tree for B3GALTL
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

  --
(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/647 NCBI SNPs in B3GALTL are shown (see all 647 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 241)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 13 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs8765401,2
A,C,F,H,O30803449(+) TACTAA/TCTGTT 1 -- ut3118Minor allele frequency- T:0.22NS MN EU EA WA NA 1386
rs9126031,2
A,C,F,H,O30803641(-) TTTTAT/CTTGTG 1 -- ut31 ese319Minor allele frequency- C:0.36NS MN EU EA WA NA 1460
rs130801,2
A,C,F,H,O30804141(-) TAGTTG/TCAAGA 1 -- ut3118Minor allele frequency- T:0.37NS MN EU EA WA NA 1378
rs20564431,2
A,C,F,H,O30803942(-) CCTGGG/AAATGT 1 -- ut31 ese311Minor allele frequency- A:0.40EU EA WA NA 976
rs95990081,2
A,C,F,H30670946(+) CAAGCC/GTACAA 1 -- ng517Minor allele frequency- G:0.45EU EA NA 662
rs10410731,2
A,C,F,H30789746(-) AGGCTT/CGCCGG 1 K/E mis113Minor allele frequency- C:0.36EU EA WA NA 1272
rs10607091,2
A,C,F,H30801834(+) CCTGCG/TCAGGG 1 -- ut31 ese39Minor allele frequency- T:0.35EA NA EU WA 2082
rs9126041,2
A,C,F,H30803606(-) GTAAAT/CATAAT 1 -- ut318Minor allele frequency- C:0.48NA EA MN EU WA 829
rs95989931,2
A,C,F,H30670353(+) ATAGTA/GATACT 1 -- ng514Minor allele frequency- G:0.47EU EA WA 418
rs40571,2
A,C,F,H30804291(-) ACAACG/AAGAGG 1 -- ut31 ese317Minor allele frequency- A:0.35MN NS EU EA WA NA 1312
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HapMap Linkage Disequilibrium images for B3GALTL (up to first 250kb)

(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 palate
  • 1 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

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (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 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 145173 HGNC: 20207 AceView: B3GTL Ensembl:ENSG00000187676 euGenes: HUgn145173
    ECgene: B3GALTL H-InvDB: B3GALTL
    (According to HUGE)
    About This Section

      --
    (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

    NameDescription
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/
    GeneReviewshttp://www.genetests.org/query?gene=B3GALTL
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (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:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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