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Aliases & Descriptions for A4GALT
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases A14GALT 1 , 2 , 3 A4GALT1 2 , 3 Alpha-1,4-N-acetylglucosaminyltransferase 3 Alpha-1,4-galactosyltransferase 3 Alpha4Gal-T1 3 EC 2.4.1.228 3 P1 2 PK 2 , 5 alpha-1,4-N-acetylglucosaminyltransferase 2 alpha4Gal-T1 2
Descriptions CD77 synthase 2 , 3 Gb3 synthase 2 , 3 Globotriaosylceramide synthase 2 , 3 P blood group (P one antigen) 2 P(k) antigen synthase 2 P1/Pk synthase 2 , 3 UDP-galactose:beta-D-galactosyl-beta1-R 4-alpha-D-galactosyltransferase 2 , 3 alpha 1,4-galactosyltransferase 2 alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group) 1 lactosylceramide 4-alpha-galactosyltransferase 2
Search outside databases for aliases for A4GALT genePrevious GC identifers: GC22M039690 GC22M041319
Summaries for A4GALT (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for A4GALT : The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to formglobotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system.The encoded protein, which is a type II membrane protein found in the Golgi, is also required forthe synthesis of the bacterial verotoxins receptor. [provided by RefSeq] UniProtKB/Swiss-Prot: A4GAT_HUMAN, Q9NPC4 Function : Necessary for the biosynthesis of the Pk antigen of blood histogroup P. Catalyzes thetransfer of galactose to lactosylceramide and galactosylceramide. Necessary for the synthesis ofthe receptor for bacterial verotoxins
Gene Wiki entry for A4GALT
Genomic Location for A4GALT
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
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UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the A4GALT gene Entrez Gene cytogenetic band: 22q11.2-q13.2 Ensembl cytogenetic band: 22q13.2 HGNC cytogenetic band: 22q13.2 A4GALT 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 22 GeneLoc Exon Structure
GeneLoc location for GC22M041412:
(about GC identifiers )
Start:
41,418,071 bp from pter
End:
41,446,820 bp from pter
Size:
28,750 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000022.9 NT_011520.11 Proteins for A4GALT
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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: A4GAT_HUMAN, Q9NPC4 (See
protein sequence )Recommended Name: Lactosylceramide 4-alpha-galactosyltransferase Size : 353 amino acids; 40499 Da
Subcellular location : Golgi apparatus membrane; Single-pass type II membrane protein (Probable)
Secondary accessions : Q9P1X5
REFSEQ proteins: NP_059132.1 ENSEMBL proteins: ENSP00000384794 ENSP00000370678 ENSP00000370676 ENSP00000249005 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5/7 Gene Ontology (GO) cellular component terms (links to tree view) (see all 7
):
About this table Antibodies for A4GALT: Assays for A4GALT:
Protein
Domains/ Families for A4GALT(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q9NPC4 ProtoNet protein and cluster: Q9NPC4
1 Blocks protein family : IPB007652 Alpha 1,4-glycosyltransferase conserved region UniProtKB/Swiss-Prot: A4GAT_HUMAN, Q9NPC4 Domain : The conserved DXD motif is involved in enzyme activity (By similarity)Similarity : Belongs to the glycosyltransferase 32 family
Gene Function for A4GALT
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
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Sigma-Aldrich , RNAi from
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RNAi Products ,
Clones , and
Q-PCR Products
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Millipore ,
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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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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_017436 Applied Biosystems Silencer ® siRNAs for A4GALT Sigma-Aldrich siRNA for A4GALT Sigma-Aldrich shRNA for A4GALT Explore Sigma-Aldrich super-pooled esiRNAs               OriGene GFP tagged cDNA clone in CMV expression vector: NM_017436                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_017436                                  untagged cDNA clones in CMV expression vector (see all 2 ): BC017068  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_017436 UniProtKB/Swiss-Prot: A4GAT_HUMAN, Q9NPC4 Function : Necessary for the biosynthesis of the Pk antigen of blood histogroup P. Catalyzes thetransfer of galactose to lactosylceramide and galactosylceramide. Necessary for the synthesis ofthe receptor for bacterial verotoxins Catalytic activity : UDP-galactose + beta-D-galactosyl-(1->4)-D-glucosyl-(1<->1)-ceramide = UDP +alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-D-glucosyl-(1<->1)-ceramide Enzyme Number (IUBMB): EC 2.4.1.228
2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for A4galt) :3 Gene Ontology (GO) molecular function terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0008378 galactosyltransferase activity
IDA 10747952 GO:0016757 transferase activity, transferring glycosyl groups
IEA -- GO:0050512 lactosylceramide 4-alpha-galactosyltransferase activity
IEA --
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Pathways & Interactions for A4GALT
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for A4GALT (Your Favorite Gene powered by Ingenuity) UniProtKB/Swiss-Prot: A4GAT_HUMAN, Q9NPC4 Pathway : Protein modification; protein glycosylation
5/14 Interacting proteins for A4GALT (Q9NPC4 2 ENSP00000370678 3 ) via UniProtKB, MINT, and/or STRING (see all 14
)About this table 3 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for A4GALT (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 )
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Browse Tocris compounds for A4GALT 6 Novoseek chemical compound relationships for A4GALT gene
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Transcripts for A4GALT(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 ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_017436 Sigma-Aldrich siRNA for A4GALT Sigma-Aldrich shRNA for A4GALT Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_017436
REFSEQ mRNAs for A4GALT gene: NM_017436.4
Applied Biosystems TaqMan ® Gene Expression Assays: NM_017436
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_017436                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_017436                                  untagged cDNA clones in CMV expression vector (see all 2 ): BC017068  
Additional cDNA sequence: AB037883.1 AJ245581.1 AK074388.1 AK130208.1 AK312927.1 BC017068.2 BC055286.1 CR604491.1
13 DOTS entries : DT.442686 DT.100699121 DT.120628638 DT.100821222 DT.95272953 DT.95272956 DT.101959088 DT.120628635 DT.120628647 DT.92424195 DT.99988912 DT.100821221 DT.120628618
24/105 AceView cDNA sequences (see all 105
):BU944582 BF939428 AB037883 AJ245581 BU944049 AI401691 BE646115 NM_017436 BU956377 BQ059688 CR604491 BQ061875 BF915976 BC017068 BI754786 AI970069 BF914923 BE019172 CB152865 CF132207 BP352881 CK823292 AW575194 BM966881
highest scoring ESTs for A4GALT :AB037883 BC017068 BE890045 BG721380 BI084280 BM924907 BQ706071 BQ707951 BQ709200 BQ712615
Unigene Cluster for A4GALT: Alpha 1,4-galactosyltransferase Hs.105956 [show with all ESTs ] Unigene Representative Sequence: BC055286 GeneLoc Exon Structure 5 Alternative Splicing Database (ASD) splice patterns (SP) for A4GALT ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d SP1 :   -   -   -           SP2 :     -   -           SP3 :     -   -           SP4 :       -           SP5 :                
About this scheme ECgene alternative splicing isoforms for A4GALT 4 Ensembl transcripts including schematic representations : ENST00000401850
ENST00000381278
ENST00000381276
ENST00000249005
Expression for A4GALT
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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
)
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A4GALT expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for A4GALT 1 / 2 / 3
3 probe-sets matching A4GALT gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: AAAATGTACTSOURCE GeneReport for Unigene cluster: Hs.105956 UniProtKB/Swiss-Prot: A4GAT_HUMAN, Q9NPC4 Tissue specificity : Ubiquitous. Highly expressed in kidney, heart, spleen, liver, testis andplacenta
Orthologs for A4GALT
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for A4GALT gene from 5/7 species (see all 7
)
About this table Species with no ortholog for A4GALT ENSEMBL Gene Tree for A4GALT Paralogs for A4GALT (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for A4GALT gene A4GNT 2
SNPs/Variants for A4GALT (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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UniProtKB/Swiss-Prot: A4GAT_HUMAN, Q9NPC4 Polymorphism : Different combinations or absence of the P blood group system antigens define 5different phenotypes: P1, P2, P1(k), P2(k), and p. Genetic variation in A4GALT determines the pphenotype, which is rare and does not express any antigens. It is also known as null phenotype; pindividuals have antibodies against P, P1 and Pk antigens in their sera. These antibodies areclinically important because they can cause severe transfusion reactions and miscarriage
HapMap Linkage Disequilibrium images for A4GALT (up to first 250kb)
Disorders & Mutations for A4GALT
(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 .)
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OMIM: 607922 disorders : 111400
1 Novoseek disease relationship for A4GALT gene
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
tumors
0.00
1
11745412 (1)
About this table Blood Group Antigen Gene Mutation Database (BGMUT) Pk blood group system Human Gene Mutation Database : A4GALT
Medical News for A4GALT (Possibly Related Articles in
Doctor's Guide )
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Publications for A4GALT (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/33 PubMed articles for A4GALT gene (see all 33
): Cloning and expression of the histo-blood group Pk UDP- galactose:Galbeta1-4Glcbeta1-Cer alpha1,4-galactosyltransferase. Molecular genetic basis of the p phenotype. (PubMed id 10747952) 1, 3, 4 Steffensen R.... Clausen H. (2000) Three-base deletion and one-base insertion of the alpha(1,4)galactosyltransferase gene responsible for the P phenotype. (PubMed id 11896312) 1, 3, 4 Koda Y.... Kimura H. (2002) Cloning of Gb3 synthase, the key enzyme in globo-series glycosphingolipid synthesis, predicts a family of alpha 1, 4-glycosyltransferases conserved in plants, insects, and mammals. (PubMed id 10854428) 1, 2, 3 Keusch J.J....Baenziger J.U. (2000) Molecular basis for the p phenotype. Identification of distinct and multiple mutations in the alpha 1,4-galactosyltransferase gene in Swedish and Japanese individuals. (PubMed id 10993874) 1, 3, 4 Furukawa K.... Furukawa K. (2000) 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) Molecular cloning of globotriaosylceramide/CD77 synthase, a glycosyltransferase that initiates the synthesis of globo series glycosphingolipids. (PubMed id 10748143) 3, 4 Kojima Y.... Furukawa K. (2000) The DNA sequence of human chromosome 22. (PubMed id 10591208) 3, 4 Dunham I....O'Brien K.P. (1999) Two previously proposed P1/P2-differentiating and nine novel polymorphisms at the A4GALT (Pk) locus do not correlate with the presence of the P1 blood group antigen. (PubMed id 16212661) 1, 3 Hellberg A....Olsson M.L. (2005) Expression of a novel missense mutation found in the A4GALT gene of Amish individuals with the p phenotype. (PubMed id 18067504) 1, 3 Hellberg A....Olsson M.L. (2008) Genetic heterogeneity at the glycosyltransferase loci underlying the GLOB blood group system and collection. (PubMed id 15142124) 1, 3 Hellberg A....Olsson M.L. (2004)
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Genome Databases showing A4GALT
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing A4GALT
(According to HUGE )
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Specialized Databases showing A4GALT (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
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Name Description
GGDB http://riodb.ibase.aist.go.jp/rcmg/ggdb/ SeattleSNPs http://pga.gs.washington.edu/data/a4galt/ Functional Glycomics Gateway - GTase http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_428
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-- Services for A4GALT (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
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Products for A4GALT:
Recombinant Proteins (CD77 ) Antibodies (CD77 )
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