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ABO Gene

protein-coding GIFtS: 60

GC09M105623

ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

		Products

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

Aliases & Descriptions
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)¹ ²		B(A) alpha-1,3-galactosyltransferase²
A3GALT1¹ ²		histo-blood group A2 transferase²
A3GALNT¹ ²		histo-blood group ABO system transferase²
Histo-blood group B transferase² ³		ABO glycosyltransferase²
Histo-blood group A transferase² ³		GTB²
Glycoprotein-fucosylgalactoside alpha-galactosyltransferase² ³		EC 2.4.1.37³
Fucosylglycoprotein 3-alpha-galactosyltransferase² ³		B transferase³
Glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase² ³		A transferase³
Fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase² ³		EC 2.4.1.40³
NAGAT² ³

External Ids:	HGNC: 79¹	Entrez Gene: 28²	Ensembl: ENSG00000175164⁷	UniProtKB: P16442³

Export aliases for ABO gene to outside databases

Previous GC identifers: GC09M127220 GC09M127687 GC09M129484 GC09M131407 GC09M133160 GC09M135120 GC09M136130

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ABO:

This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an

individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus

of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with

the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen.

Other minor alleles have been found for this gene. (provided by RefSeq)

UniProtKB/Swiss-Prot: BGAT_HUMAN, P16442

Function: This protein is the basis of the ABO blood group system. The histo-blood group ABO involves three

carbohydrate antigens: A, B, and H. A, B, and AB individuals express a glycosyltransferase activity that converts the

H antigen to the A antigen (by addition of UDP-GalNAc) or to the B antigen (by addition of UDP-Gal), whereas O

individuals lack such activity

Gene Wiki entry for ABO

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ABO gene promoter:
         CUTL1   IRF-7A   Sp1   MyoD   C/EBPalpha
         Other transcription factors

Search SABiosciences Chromatin IP Primers for ABO

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for ABO

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

Entrez Gene cytogenetic band: 9q34.2 Ensembl cytogenetic band: 9q34.2 HGNC cytogenetic band: 9q34.2

ABO Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABO gene location

GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M105623: view genomic region (about GC identifiers)

Start:	105,623,317 bp from pter
End:	105,642,515 bp from pter
Size:	19,199 bases
Orientation:	minus strand

2 alternative locations:

Chr9-,PATCHES 136,125,503-136,145,542

Chr9- 136,130,563-136,150,630

RefSeq DNA sequence:

NC_000009.11 NT_035014.4

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: BGAT_HUMAN, P16442 (See protein sequence)

Recommended Name: Histo-blood group ABO system transferase

Size: 354 amino acids; 40934 Da

Cofactor: Binds 1 manganese ion per subunit

Subcellular location: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Secreted.

Note=Membrane-bound form in trans cisternae of Golgi. Secreted into the body fluid

PDB structures from and Proteopedia :

1LZ0 (3D)

1LZ7 (3D)

1LZI (3D)

1LZJ (3D)

1R7T (3D)

1R7U (3D)

1R7V (3D)

1R7X (3D)

1R7Y (3D)

1R80 (3D)

1R81 (3D)

1R82 (3D)

1WSZ (3D)

1WT0 (3D)

1WT1 (3D)

1WT2 (3D)

1WT3 (3D)

1XZ6 (3D)

1ZHJ (3D)

1ZI1 (3D)

1ZI3 (3D)

1ZI4 (3D)

1ZI5 (3D)

1ZIZ (3D)

1ZJ0 (3D)

1ZJ1 (3D)

1ZJ2 (3D)

1ZJ3 (3D)

1ZJO (3D)

1ZJP (3D)

2A8U (3D)

2A8W (3D)

2I7B (3D)

2O1F (3D)

2O1G (3D)

2O1H (3D)

2PGV (3D)

2PGY (3D)

2RIT (3D)

2RIX (3D)

2RIY (3D)

2RIZ (3D)

2RJ0 (3D)

2RJ1 (3D)

2RJ4 (3D)

2RJ5 (3D)

2RJ6 (3D)

2RJ7 (3D)

2RJ8 (3D)

2RJ9 (3D)

3IOH (3D)

3IOI (3D)

3IOJ (3D)

Secondary accessions: B0JDB9 O14758 Q14490 Q53I57 Q6ISD4 Q6KFZ2 Q70V27 Q99484 Q99485 Q9NY01 Q9UQ68

Q9UQ69

Explore the universe of human proteins at neXtProt for ABO: NX_P16442

Post-translational modifications:

The soluble form derives from the membrane form by proteolytic processing¹

REFSEQ proteins: NP_065202.2
Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: ABO OriGene Protein Over-expression Lysate: ABO
	GenScript Purified and Recombinant Proteins for ABO
	Novus Biologicals Protein for ABO
	Novus Biologicals Lysate for ABO
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins

5/6 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 6):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	NAS	--
GO:0005794	Golgi apparatus	IEA	--
GO:0016020	membrane	IEA	--
GO:0016021	integral to membrane	IEA	--
GO:0030173	integral to Golgi membrane	NAS	--

About this table

ABO for ontologies About GeneDecksing

Antibodies for ABO:

	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for ABO
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies
	GenScript Superior Antibodies for ABO
	Novus Biologicals Antibodies for ABO
	Epitomics antibodies for ABO

Assays for ABO:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for ABO
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

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

ABO for domains About GeneDecksing

1 InterPro domain/family:

IPR005076 Glyco_trans_6

Graphical View of Domain Structure for InterPro Entry P16442

ProtoNet protein and cluster: P16442

1 Blocks protein family: IPB005076 Glycosyl transferase

UniProtKB/Swiss-Prot: BGAT_HUMAN, P16442

Domain: The conserved DXD motif is involved in cofactor binding. The manganese ion interacts with the beta-phosphate

group of UDP and may also have a role in catalysis

Similarity: Belongs to the glycosyltransferase 6 family

(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: BGAT_HUMAN, P16442

Function: This protein is the basis of the ABO blood group system. The histo-blood group ABO involves three

carbohydrate antigens: A, B, and H. A, B, and AB individuals express a glycosyltransferase activity that converts the

H antigen to the A antigen (by addition of UDP-GalNAc) or to the B antigen (by addition of UDP-Gal), whereas O

individuals lack such activity

Catalytic activity: UDP-N-acetyl-D-galactosamine + glycoprotein-alpha-L-fucosyl-(1->2)-D-galactose = UDP +

glycoprotein-N-acetyl-alpha-D-galactosaminyl-(1->3)-(alpha-L-fucosyl-(1->2))-D-galactose

Catalytic activity: UDP-galactose + alpha-L-fucosyl-(1->2)-D-galactosyl-R = UDP +

alpha-D-galactosyl-(1->3)-(alpha-L-fucosyl-(1->2))-D-galactosyl-R

Enzyme Numbers (IUBMB): EC 2.4.1.40 EC 2.4.1.37

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich esiRNA and siRNA for ABO Sigma-Aldrich shRNA for ABO
		OriGene 29mer shRNA kits in GFP-retroviral vector: ABO OriGene shRNA RFP: ABO OriGene basic RS shRNA: ABO OriGene siRNA: ABO
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ABO

miRNA:		Browse microRNA Mimics at Sigma-Aldrich Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ABO
		Search SABiosciences for Assays for microRNAs that regulate ABO

Gene
Editing:

Browse CompoZr Knockout ZFN at Sigma-Aldrich

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: ABO OriGene Myc/DDK tagged cDNA clones in CMV expression vector: ABO OriGene untagged cDNA clones in CMV expression vector: ABO Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		GenScript cDNA clone with any tag delivered in your preferred vector: ABO
		Browse Sino Biological Human cDNA Clones

Cell
Lines:

GenScript Custom overexpressing Cell Line Services for ABO

4 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004380	glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity	NAS	--
GO:0004381	fucosylgalactoside 3-alpha-galactosyltransferase activity	NAS	--
GO:0016758	transferase activity, transferring hexosyl groups	IEA	--
GO:0046872	metal ion binding	IEA	--

About this table

ABO for ontologies About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

ABO for pathways About GeneDecksing

2 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for ABO

	Glycosphingolipid Biosynthesis - Neolactoseries
	Glycosphingolipid Biosynthesis - Lactoseries

2 Kegg Pathways (Kegg details for ABO):

	hsa00601 Glycosphingolipid biosynthesis - lacto and neolacto series
	hsa01100 Metabolic pathways

UniProtKB/Swiss-Prot: BGAT_HUMAN, P16442

Pathway: Protein modification; protein glycosylation

    SABiosciences Custom Pathway-Focused PCR Arrays for ABO

  Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for ABO
  SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ABO

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	IEA	--
GO:0006486	protein glycosylation	NAS	--

About this table

ABO for ontologies About GeneDecksing

(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

ABO for compounds About GeneDecksing

Browse Small Molecules at Sigma-Aldrich

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ABO
10/12 Novoseek chemical compound relationships for ABO gene (see all 12)

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
udp-n-acetylgalactosamine	67.8	1	1289243 (1)
udpglucose	62.2	9	17031966 (2), 20154292 (2), 18202596 (1), 12198488 (1)
galalpha(1,3)gal	58.6	2	11895782 (1)
galactose	54.4	3	16923820 (1), 12529355 (1)
de-oxy	41.1	1	8252553 (1)
monosaccharide	26.3	2	15475562 (1)
methionine	6.19	1	18202596 (1)
agarose	0	1	9633556 (1)
alanine	0	4	8631849 (2), 18202596 (1)
arginine	0	1	1903936 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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 Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich esiRNA and siRNA for ABO Sigma-Aldrich shRNA for ABO
		OriGene 29mer shRNA kits in GFP-retroviral vector: ABO OriGene shRNA RFP: ABO OriGene basic RS shRNA: ABO OriGene siRNA: ABO
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ABO

miRNA:		Browse microRNA Mimics at Sigma-Aldrich Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ABO
		Search SABiosciences for Assays for microRNAs that regulate ABO

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: ABO OriGene Myc/DDK tagged cDNA clones in CMV expression vector: ABO OriGene untagged cDNA clones in CMV expression vector: ABO Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		GenScript cDNA clone with any tag delivered in your preferred vector: ABO

Primers:		OriGene genome-wide validated SYBR primer pairs: ABO Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for ABO: PPH11266A

REFSEQ mRNAs for ABO gene:

NM_020469.2

Additional cDNA sequence:

AF134412.1 AF134413.1 AF134414.1 AF134415.1 AF134416.1 AK095379.1 AK124587.1 AK302203.1

AY579471.1 AY727862.1 BC069595.1 BC069605.1 BC069814.1 BC111575.1 DQ139865.1 FR691751.1

FR691752.1 J05175.1 U15197.1

5 DOTS entries:

DT.211476 DT.428863 DT.102822581 DT.95202884 DT.121166283

24/29 AceView cDNA sequences (see all 29):

BX485027 U15197 AA431249 AF134416 AA595771 NM_020469 AW302156 AF134412

BC069605 BC069814 J05175 AF134415 AF134413 AI476688 S44054 AV761252

AA931083 BP351450 BP352662 BF448058 BP351212 BC069595 BP354524 AF134414

highest scoring ESTs for ABO:

AF134412 AF134413 AF134414 AF134415 AF134416 BC069595 BC069814 J05175 AI940495 AU100017

Unigene Cluster for ABO:

ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)

Hs.654423 [show with all ESTs]

Unigene Representative Sequence: AK124587

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for ABO

ExUns:	1	^	2a	·	2b	^	3	^	4	^	5	^	6a	·	6b	·	6c	^	7	^	8a	·	8b	·	8c
SP1:															-		-
SP2:															-		-
SP3:			-		-												-		-
SP4:

About this scheme

ECgene alternative splicing isoforms for ABO
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000453660 ENST00000319878(uc004cda.1 uc010naf.1 uc011mcz.1 uc010nag.1)

ENST00000417293

(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 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

ABO expression in normal and diseased human tissues

¹ / ² / ³

5 probe-sets matching ABO gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
34469_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	X84746	0.20	1.00	0.72	1
216929_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	U15197	0.60	1.00	0.82	1
214504_at²^{, 3}	U133-A	1	0.91	1.00	--	--	NM_020469	0.60	1.00	0.82	1
216929_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
214504_at²	U133Plus2	1	0.91	1.00	--	--	--	--	--	--	--

About this table

ABO for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

About these images

CGAP SAGE TAG: TTCTCAGGCC

SOURCE GeneReport for Unigene cluster: Hs.654423

Expression variation in blood from EXPOLDB for ABO

Primers:		OriGene genome-wide validated SYBR primer pairs: ABO Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for ABO: PPH11266A

SABiosciences Custom PCR Arrays for ABO

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for ABO gene from 5/6 species (see all 6)

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ABO¹	--	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; more	75.05(n) 70.06(a)	491265 XM_548386.2 XP_548386.2
chimpanzee (Pan troglodytes)	ABO¹	--	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; more	98.39(n) 98.02(a)	450164 XM_520338.2 XP_520338.2
cow (Bos taurus)	ABO¹	--	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; more	77.39(n) 72.03(a)	515340 XM_001256288.1 XP_001256289.1
rat (Rattus norvegicus)	Abo_predicted¹	--	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; more	77.74(n) 75.91(a)	296504 XM_215986.4 XP_215986.3
mouse (Mus musculus)	Abo^{1 , 5}	2 (19.06 cM)⁵	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase, more^{1, 5}	75.35(n)¹ 74.55(a)¹	80908¹ NM_030718.3¹ NP_109643.2¹ AB041038⁵ AB041039⁵ (see all 11)

About this table Species with no ortholog for ABO

ENSEMBL Gene Tree for ABO (if available)

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

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

UniProtKB/Swiss-Prot: BGAT_HUMAN, P16442

Polymorphism: The sequence shown is that of the A transferase. The B form differs by a few residues substitutions. The

O phenotype results from a single base frameshift in the N-terminal extremity of the gene, resulting in a severly

truncated protein without catalytic activity

SNP ID	Valid	Chr 9 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs473533^1,2	C,F	136148035(+)	`ttaaaC/Taagtt`	1	--	int¹		4	NS NA	94
rs474279^1,2	C,F,A,H,	136139617(+)	`CTGGCC/TGCATC`	1	--	int¹		19	NS EA NA WA	1090
rs475419^1,2	C,F,	136148231(+)	`ACTTAT/CGTCTT`	1	--	int¹		3	NS NA	78
rs476410^1,2	C,F,A,	136148368(+)	`aaaaaC/Gtctct`	1	--	int¹		5	NS NA	80
rs488775^1,2	C,F,H,	136144534(+)	`TAACAA/GACAGA`	1	--	int¹		8	NS NA WA	98
rs491626^1,2	C,F,A,H,	136144873(+)	`tttctC/Tgcttc`	1	--	int¹		4	NS NA	90
rs492488^1,2	C,F,	136144960(+)	`ggcccG/Agtcct`	1	--	int¹		3	NS NA	86
rs493211^1,2	C,F,	136136516(+)	`GTTGGG/AGACTG`	1	--	int¹		13	NS EA NA WA	580
rs493246^1,2	C,F,H,	136144994(+)	`ggtgcG/Acctaa`	1	--	int¹		4	NS NA	90
rs494242^1,2	C,F,A,H,	136145118(+)	`agtaaC/Tggttg`	1	--	int¹		6	NS NA EA	254

About this table

HapMap Linkage Disequilibrium images for ABO (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for ABO
7 CNVs: 29809 38736 65542 53331 10311 52737 29808
1 Indel: 13207

QIAGEN SeqTarget long-range PCR primers for resequencing ABO

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ABO for disorders About GeneDecksing

OMIM: 110300

7 Novoseek disease relationships for ABO gene

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gastric cancer	31.2	10	10601288 (2), 9325321 (2), 15584989 (1), 11856466 (1) (see all 5)
bladder tumors	27.9	1	9506524 (1)
myeloid leukemia chronic	22.9	2	10072169 (2)
cholera	0.658	1	8640757 (1)
tumors	0	11	14750174 (3), 8640757 (2), 10972144 (1)
carcinoma	0	1	14750174 (1)
cancer	0	4	2114334 (1), 10972144 (1), 15939654 (1)

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1 PharmGKB disease relationship for ABO gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
HELLP Syndrome	GN	12410371

About this table

Locus Specific Mutation Databases (LSDB): ABO
Human Gene Mutation Database (HGMD): ABO
Genetic Association Database (GAD): ABO
Human Genome Epidemiology (HuGE) Navigator: ABO (112 documents)

Export disorders and mutations for ABO gene to outside databases

(Possibly Related Articles in Doctor's Guide)
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Risk of Pancreatic Cancer Linked to Variation in Gene for ABO Blood Type

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶UniProtKB/TrEMBL, and/or ⁷Novoseek)
About This Section

10/244 PubMed articles for ABO gene, integrated from 7 sources (see all 244):
(articles sorted by number of sources associating them with ABO)

Cloning and characterization of DNA complementary to human UDP- GalNAc: Fuc alpha 1-->2Gal alpha 1-->3GalNAc transferase (histo-blood group A transferase) mRNA. (PubMed id 2104828)^{1, 2, 7} Yamamoto F.... Hakomori S. (1990)
Structural effects of naturally occurring human blood group B galactosyltransferase mutations adjacent to the DXD motif. (PubMed id 17259183)^{1, 2, 7} Persson M.... Olsson M.L. (2007)
A single point mutation reverses the donor specificity of human blood group B-synthesizing galactosyltransferase. (PubMed id 12529355)^{1, 2, 7} Marcus S.L.... Palcic M.M. (2003)
Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid substitutions. (PubMed id 2121736)^{1, 2, 7} Yamamoto F. and Hakomori S. (1990)
The structural basis for specificity in human ABO(H) blood group biosynthesis. (PubMed id 12198488)^{1, 2, 7} Patenaude S.I.... Evans S.V. (2002)
Molecular genetic basis of the histo-blood group ABO system. (PubMed id 2333095)^{1, 2, 7} Yamamoto F.... Hakomori S. (1990)
Weak blood group B phenotypes may be caused by variations in the CCAAT-binding factor/NF-Y enhancer region of the ABO gene. (PubMed id 17764507)^{1, 2} Seltsam A....Blasczyk R. (2007)
The ABO blood group genotype and factor VIII levels as independent risk factors for venous thromboembolism. (PubMed id 15735796)^{1, 4} Tirado I....Fontcuberta J. (2005)
Interaction between haptoglobin subtypes and AB0 blood groups in a Bengalee population. (PubMed id 16176058)^{1, 4} Bandyopadhyay A.R. and Roy J.G. (2005)
ABO/secretor genetic complex is associated with the susceptibility of childhood asthma in Taiwan. (PubMed id 16008680)^{1, 4} Chen Y.L....Wang J.Y. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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, Kegg, and/or H-InvDB)
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Entrez Gene: 28	HGNC: 79	AceView: ABO	Ensembl:ENSG00000175164	euGenes: HUgn28
ECgene: ABO	Kegg: 28	H-InvDB: ABO

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
GGDB	http://riodb.ibase.aist.go.jp/rcmg/ggdb/
SeattleSNPs	http://pga.gs.washington.edu/data/abo/
Functional Glycomics Gateway - GTase	http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_450
Functional Glycomics Gateway - GTase	http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_502

Intellectual Property for ABO gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from XenneX, Inc.)

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Patent Information for ABO gene:
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protein-coding GIFtS: 60

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ABO (Gene Symbol)
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
A3GALT1
A3GALNT
Histo-blood group B transferase
Histo-blood group A transferase
Glycoprotein-fucosylgalactoside alpha-galactosyltransferase
Fucosylglycoprotein 3-alpha-galactosyltransferase
Glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase
Fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase
NAGAT
B(A) alpha-1,3-galactosyltransferase
histo-blood group A2 transferase
histo-blood group ABO system transferase
ABO glycosyltransferase
GTB
EC 2.4.1.37
B transferase
A transferase
EC 2.4.1.40

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ABO Gene

protein-coding GIFtS: 60

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