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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

A4GALT Gene

protein-coding GIFtS: 62
GCID: GC22M043088

alpha 1,4-galactosyltransferase

(Previous names: alpha 1,4-galactosyltransferase (globotriaosylceramide...)

Explore 6 diseases affiliated with
A4GALT via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Alpha 1,4-Galactosyltransferase¹ ²		Alpha 1,4-Galactosyltransferase (Globotriaosylceramide Synthase, P Blood Group)¹
A14GALT¹ ² ³		P1²
Gb3S¹ ²		P1PK²
P(K)¹		Alpha-1,4-N-Acetylglucosaminyltransferase¹
Gb3 Synthase² ³		Alpha4Gal-T1³
Globotriaosylceramide Synthase² ³		Lactosylceramide 4-Alpha-Galactosyltransferase²
A4GALT1² ³		P Blood Group (P One Antigen)²
CD77 Synthase² ³		P(K) Antigen Synthase²
P1/Pk Synthase² ³		Alpha-1,4-N-Acetylglucosaminyltransferase¹
UDP-Galactose:Beta-D-Galactosyl-Beta1-R 4-Alpha-D-Galactosyltransferase² ³		Alpha-1,4-Galactosyltransferase¹
EC 2.4.1.228³ ⁸		Alpha4Gal-T1³
PK² ⁵

External Ids:	HGNC: 18149¹	Entrez Gene: 53947²	Ensembl: ENSG00000128274⁷	OMIM: 607922⁵	UniProtKB: Q9NPC4³

Export aliases for A4GALT gene to outside databases

Previous GC identifers: GC22M039690 GC22M041319 GC22M041412 GC22M026048

(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 A4GALT:

The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide,

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 for the synthesis of the bacterial verotoxins receptor.

(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: A4GAT_HUMAN, Q9NPC4

Function: Necessary for the biosynthesis of the Pk antigen of blood histogroup P. Catalyzes the transfer of galactose

to lactosylceramide and galactosylceramide. Necessary for the synthesis of the receptor for bacterial verotoxins

Gene Wiki entry for A4GALT

(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_000022.10 NC_018933.1 NT_011520.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the A4GALT gene promoter:
Max1 COUP-TF1 AP-1 COUP HNF-4alpha2 HNF-4alpha1 CREB COUP-TF NF-kappaB1 ATF
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: A4GALT promoter sequence

Search SABiosciences Chromatin IP Primers for A4GALT

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat A4GALT

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

Entrez Gene cytogenetic band: 22q13.2 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)
A4GALT gene location

GeneLoc information about chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22M043088: view genomic region (about GC identifiers)

Start:	43,088,127 bp from pter	End:	43,117,304 bp from pter
Size:	29,178 bases	Orientation:	minus strand

(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: 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: B2R7C4 Q9P1X5

Explore the universe of human proteins at neXtProt for A4GALT: NX_Q9NPC4

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9NPC4

4/9 DME Specific Peptides for A4GALT (Q9NPC4) (see all 9)

CSVESAA

HEFMALCM

ESRACRGVT

LPVLSDASRIAL

A4GALT Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_059132.1

ENSEMBL proteins:

ENSP00000384794 ENSP00000249005 ENSP00000370678

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	Uscn Proteins for A4GALT

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005795	Golgi stack	IEA	--
GO:0016020	membrane	IDA	10748143
GO:0030173	integral to Golgi membrane	NAS	10748143

A4GALT for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for A4GALT

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

A4GALT for domains About GeneDecksing

2 InterPro domains/families:

IPR007577 GlycoTrfase_DXD_sugar-bd_CS

IPR007652 A1-4-GlycosylTfrase_dom

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

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: A4GAT_HUMAN, Q9NPC4

Function: Necessary for the biosynthesis of the Pk antigen of blood histogroup P. Catalyzes the transfer of galactose

to lactosylceramide and galactosylceramide. Necessary for the synthesis of the receptor for bacterial verotoxins

Catalytic activity: UDP-alpha-D-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 2.4.1.228¹ ²

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008378	galactosyltransferase activity	IDA	10748143
GO:0050512	lactosylceramide 4-alpha-galactosyltransferase activity	IEA	--

A4GALT for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for A4GALT:

Decreased p24 protein expressi

4 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for A4galt):

behavior/neurological

homeostasis/metabolism

immune system

mortality/aging

A4GALT for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for A4GALT: A4galt^tm1Kfk A4galt^tm1.1Poru

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for A4GALT

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for A4GALT

(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-pathway

contained gene-specific pathways

Glycosphingolipid biosynthesis - globo series

Glycosphingolipid biosynthesis - globo series

1.00

Metabolism

Metabolic pathways

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

2 Kegg Pathways (Kegg details for A4GALT):

	Glycosphingolipid biosynthesis - globo series
	Metabolic pathways

UniProtKB/Swiss-Prot: A4GAT_HUMAN, Q9NPC4

Pathway: Protein modification; protein glycosylation

A4GALT for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for A4GALT

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

5/7 Interacting proteins for A4GALT (Q9NPC4² ENSP00000249005⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
B3GALNT1	ENSP00000323479⁴	STRING: ENSP00000323479
HEXA	ENSP00000268097⁴	STRING: ENSP00000268097
HEXB	ENSP00000261416⁴	STRING: ENSP00000261416
B4GALT6	ENSP00000306459⁴	STRING: ENSP00000306459
GLB1	ENSP00000306920⁴	STRING: ENSP00000306920

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006486	protein glycosylation	IEA	--
GO:0006688	glycosphingolipid biosynthetic process	NAS	10748143
GO:0007009	plasma membrane organization	IDA	10747952

A4GALT for ontologies About GeneDecksing

(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

A4GALT for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for A4GALT

10/41 HMDB Compounds for A4GALT (see all 41) About this table

Compound	Synonyms	CAS #	PubMed Ids
3-O-Sulfogalactosylceramide (d18:1/12:0)	Sulfatide (d18:1/12:0) (see all 13)	852100-88-0	--
3-O-Sulfogalactosylceramide (d18:1/14:0)	Sulfatide (d18:1/14:0) (see all 13)	--	--
3-O-Sulfogalactosylceramide (d18:1/16:0)	Sulfatide (d18:1/16:0) (see all 13)	862509-48-6	--
3-O-Sulfogalactosylceramide (d18:1/18:0)	Sulfatide (d18:1/18:0) (see all 13)	244215-65-4	--
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))	Sulfatide (d18:1/18:1(9Z)) (see all 13)	--	--
3-O-Sulfogalactosylceramide (d18:1/20:0)	Sulfatide (d18:1/20:0) (see all 13)	265096-81-9	--
3-O-Sulfogalactosylceramide (d18:1/22:0)	Sulfatide (d18:1/22:0) (see all 13)	265096-83-1	--
3-O-Sulfogalactosylceramide (d18:1/24:0)	Sulfatide (d18:1/24:0) (see all 16)	151122-71-3	--
3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))	Sulfatide (d18:1/24:1(15Z)) (see all 13)	151057-28-2	--
3-O-Sulfogalactosylceramide (d18:1/26:1(17Z))	Sulfatide (d18:1/26:1(17Z)) (see all 13)	928346-40-1	--

7 Novoseek chemical compound relationships for A4GALT gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lactosylceramide	86.6	5	9988695 (1), 12232838 (1), 16100442 (1), 15633106 (1) (see all 5)
shiga toxin	81.8	3	15633106 (1)
verotoxins	78.7	3	8039905 (1)
glucosylceramide	69.5	2	9988695 (1), 15633106 (1)
ceramide	61.2	3	9988695 (1), 12232838 (1), 16100442 (1)
glycosphingolipid	57	1	10854428 (1)
polysaccharide	15.1	1	10430883 (1)

Search CenterWatch for drugs/clinical trials and news about A4GALT / A4GAT

(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, Sirion Biotech, 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 A4GALT gene:

NM_017436.4

Unigene Cluster for A4GALT:

Alpha 1,4-galactosyltransferase

Hs.105956 [show with all ESTs]

Unigene Representative Sequence: BC055286

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000401850 ENST00000249005(uc003bdb.3 uc021wqo.1 uc021wqp.1 uc010gzd.3)

ENST00000381278 ENST00000483026 ENST00000465765

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Additional cDNA sequence:

AB037883.1 AJ245581.1 AK074388.1 AK130208.1 AK312927.1 BC017068.2 BC055286.1

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):

NM_017436 AI401691 BI754786 BU944049 BF939428 AJ245581 BU956377 BU944582

AI970069 CR604491 BQ059688 BC017068 BF914923 BE019172 AB037883 BF915976

BQ061875 BE646115 BU608002 BG005879 BC055286 BQ446800 BF307234 AA765906

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for A4GALT About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	·	4c	·	4d
SP1:			-		-		-
SP2:					-		-
SP3:					-		-
SP4:							-
SP5:

ECgene alternative splicing isoforms for A4GALT

(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

A4GALT expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAAATGTACT

About this image

A4GALT expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor W8 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See A4GALT Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for A4GALT

SOURCE GeneReport for Unigene cluster: Hs.105956

UniProtKB/Swiss-Prot: A4GAT_HUMAN, Q9NPC4

Tissue specificity: Ubiquitous. Highly expressed in kidney, heart, spleen, liver, testis and placenta

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for A4GALT

(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 eukaryotes.

Orthologs for A4GALT gene from 5/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	A4GALT¹	alpha 1,4-galactosyltransferase	66.57(n) 66.29(a)		418223 XM_416448.3 XP_416448.3
lizard (Anolis carolinensis)	Reptilia	A4GALT⁶	--	60(a)	1 ↔ 1	5(87012982-87014061)
fruit fly (Drosophila melanogaster)	Insecta	CG17223³ alpha4GT1¹	CG17223-PA¹	31(a)³ 46.67(n)¹ 33.94(a)¹		23C5³ 33512¹ NM_134893.3¹ NP_608737.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	AT2G38152⁶ AT3G09020⁶ (see all 6)	lactosylceramide 4-alpha-galactosyltransferase (see all 6)	21(a) 20(a) (see all 6)	many ↔ many many ↔ many (see all 6)	2(15984062-15985278) 3(2753307-2754621)
rice (Oryza sativa)	Liliopsida	-- --	glycosyltransferase sugar-binding region containin... glycosyltransferase sugar-binding region containin...	18(a) 12(a)	many ↔ many many ↔ many	4(26319098-26322713) 7(22790768-22797444)

ENSEMBL Gene Tree for A4GALT (if available)
TreeFam Gene Tree for A4GALT (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for A4GALT gene

A4GNT²

8 SIMAP similar genes for A4GALT using alignment to 20 protein entries: A4GAT_HUMAN (see all proteins):

CIR1 ZNF506 C8orf44 PSMD8 ZDHHC20 C8orf17

STARD10 A4GNT

A4GALT for paralogs About GeneDecksing

(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)
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UniProtKB/Swiss-Prot: A4GAT_HUMAN, Q9NPC4

Polymorphism: Genetic variation in A4GALT is responsible for the P system blood group phenotypes [MIM:111400].

Different combinations or absence of the P blood group system antigens define 5 different phenotypes: P1, P2, P1(k),

P2(k), and p. Genetic variation in A4GALT determines the p phenotype, which is rare and does not express any antigens.

It is also known as null phenotype; p individuals have antibodies against P, P1 and Pk antigens in their sera. These

antibodies are clinically important because they can cause severe transfusion reactions and miscarriage

SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs74315454^1,2	C	pathogenic	43089175(-)	`AAGTGA/GTGTTC`	2	* W	stg¹		0	--	--	--	--
rs28940571^1,2	C	pathogenic	43089206(-)	`GGGCCC/TGCAGC`	2	P L	mis¹ ese³		0	--	--	--	--
rs28940572^1,2	C	pathogenic	43089398(-)	`GTTCGG/ACGGCA`	2	/D /G	mis¹ ese³		1		NA	2
rs74315453^1,2	C	pathogenic	43089410(-)	`ACTCAA/TGTGGA`	2	K M	mis¹		0	--	--	--	--
rs8142445^1,2	C,F,A,H	--	43087644(+)	`GTCTCG/ACCCTG`	1	--	ds500¹		9		NS NA WA EA	460
rs28915393^1,2	C,F	--	43087713(-)	`ATCCCG/AGGAGG`	1	--	ds500¹		2		NS	94
rs8142375^1,2	C,F	--	43087781(+)	`CTCAGC/TCCTGC`	1	--	ds500¹		10		NS NA WA EA	462
rs6002901^1,2	C	--	43087853(+)	`TGTCAT/CGGGGG`	1	--	ds500¹		2		NS	94
rs6002902^1,2	C	--	43087854(+)	`GTCATG/TGGGGG`	1	--	ds500¹		2		NS	94
rs184102181^1,2		--	43087992(+)	`GTCCCC/GAGCCC`	1	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for A4GALT (43088127 - 43117304 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for A4GALT
1 Indel: 12265
Human Gene Mutation Database (HGMD): A4GALT
Blood Group Antigen Gene Mutation Database (BGMUT) blood group system

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing A4GALT

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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A4GALT for disorders           About GeneDecksing

OMIM gene information: 607922
OMIM disorders: 111400
6 diseases for A4GALT:    About MalaCards

hemolytic-uremic syndrome megakaryoblastic leukemia fabry disease intrahepatic cholangiocarcinoma

cholangiocarcinoma leukemia

2 diseases from the University of Copenhagen DISEASES database for A4GALT:

hemolytic-uremic syndrome Fabry disease

1 Novoseek disease relationship for A4GALT gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tumors	0	1	11745412 (1)

Human Genome Epidemiology (HuGE) Navigator: A4GALT (2 documents)

Export disorders for A4GALT gene to outside databases

(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)
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PubMed articles for A4GALT gene, integrated from 9 sources (see all 43):
(articles sorted by number of sources associating them with A4GALT)

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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, 2, 9} 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, 2, 9} 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, 3, 9} 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, 2, 9} 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)^{1, 2} 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)^{1, 2} Kojima Y.... Furukawa K. (2000)
The DNA sequence of human chromosome 22. (PubMed id 10591208)^{1, 2} 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, 9} Hellberg A....Olsson M.L. (2005)
Globotriaosylceramide (Gb3) content in HeLa cells is correlated to Shiga toxin-induced cytotoxicity and Gb3 synthase expression. (PubMed id 19470247)^{1, 9} Shin I.S....Kim B.W. (2009)
Expression of a novel missense mutation found in the A4GALT gene of Amish individuals with the p phenotype. (PubMed id 18067504)^{1, 9} Hellberg A....Olsson M.L. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 53947	HGNC: 18149	AceView: A4GALT	Ensembl:ENSG00000128274	euGenes: HUgn53947
ECgene: A4GALT	Kegg: 53947	H-InvDB: A4GALT

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for A4GALT	Pharmacogenomics, SNPs, Pathways
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

Intellectual Property for A4GALT gene
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Patent Information for A4GALT gene:
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GeneCards and IP:
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A4GALT Gene

alpha 1,4-galactosyltransferase

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A4GALT (Gene Symbol)
Alpha 1,4-Galactosyltransferase
A14GALT
Gb3S
P(K)
Gb3 Synthase
Globotriaosylceramide Synthase
A4GALT1
CD77 Synthase
P1/Pk Synthase
UDP-Galactose:Beta-D-Galactosyl-Beta1-R 4-Alpha-D-Galactosyltransferase
EC 2.4.1.228
PK
Alpha 1,4-Galactosyltransferase (Globotriaosylceramide Synthase, P Blood Group)
P1
P1PK
Alpha-1,4-N-Acetylglucosaminyltransferase
Alpha4Gal-T1
Lactosylceramide 4-Alpha-Galactosyltransferase
P Blood Group (P One Antigen)
P(K) Antigen Synthase
Alpha-1,4-N-Acetylglucosaminyltransferase
Alpha-1,4-Galactosyltransferase
Alpha4Gal-T1

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A4GALT Gene

alpha 1,4-galactosyltransferase

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