ABO (ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase)

Gene

• Entrez ID: 28
• Gene name: ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
• Gene symbol: ABO
• Synonyms: A3GALNT, A3GALT1, GTB, NAGAT
• Chromosome: 9
• Chromosome location: 9q34.2
• Summary: This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. 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. This locus has been identified as a susceptibility locus for severe coronavirus disease 2019 (COVID-19) by genome-wide association study. [provided by RefSeq, Aug 2020]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs55722397	G>C	Affects	Missense variant, coding sequence variant
rs56392308	G>-	Affects	Frameshift variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IMP	12198488
GO:0003823	Function	Antigen binding	IMP	12198488
GO:0004380	Function	Glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity	IEA
GO:0004381	Function	Fucosylgalactoside 3-alpha-galactosyltransferase activity	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005794	Component	Golgi apparatus	IBA	21873635
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0016757	Function	Transferase activity, transferring glycosyl groups	IBA	21873635
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0030145	Function	Manganese ion binding	IMP	12198488
GO:0030259	Process	Lipid glycosylation	IBA	21873635
GO:0031982	Component	Vesicle	IBA	21873635
GO:0032580	Component	Golgi cisterna membrane	IEA

Other IDs

• MIM: 110300
• HGNC: 79
• e!Ensembl: ENSG00000175164

Protein

• UniProt ID: P16442
• Protein name: Histo-blood group ABO system transferase (Fucosylglycoprotein 3-alpha-galactosyltransferase) (Fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase) (Glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase) (EC 2.4.1.40) (Glycoprotein-fucosylgalactoside alpha-galactosyltransferase) (EC 2.4.1.37) (Histo-blood group A transferase) (A transferase) (Histo-blood group B transferase) (B transferase) (NAGAT) [Cleaved into: Fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase soluble form]
• Protein 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.
• PDB: 1LZ0, 1LZ7, 1LZI, 1LZJ, 1R7T, 1R7U, 1R7V, 1R7X, 1R7Y, 1R80, 1R81, 1R82, 1WSZ, 1WT0, 1WT1, 1WT2, 1WT3, 1XZ6, 1ZHJ, 1ZI1, 1ZI3, 1ZI4, 1ZI5, 1ZIZ, 1ZJ0, 1ZJ1, 1ZJ2, 1ZJ3, 1ZJO, 1ZJP, 2A8U, 2A8W, 2I7B, 2O1F, 2O1G, 2O1H, 2PGV, 2PGY, 2RIT, 2RIX, 2RIY, 2RIZ, 2RJ0, 2RJ1, 2RJ4, 2RJ5, 2RJ6, 2RJ7, 2RJ8, 2RJ9, 2Y7A
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03414	Glyco_transf_6	35 → 353	Glycosyltransferase family 6	Family

• Sequence:

  MAEVLRTLAGKPKCHALRPMILFLIMLVLVLFGYGVLSPRSLMPGSLERGFCMAVREPDH
  LQRVSLPRMVYPQPKVLTPCRKDVLVVTPWLAPIVWEGTFNIDILNEQFRLQNTTIGLTV
  FAIKKYVAFLKLFLETAEKHFMVGHRVHYYVFTDQPAAVPRVTLGTGRQLSVLEVRAYKR
  WQDVSMRRMEMISDFCERRFLSEVDYLVCVDVDMEFRDHVGVEILTPLFGTLHPGFYGSS
  REAFTYERRPQSQAYIPKDEGDFYYLGGFFGGSVQEVQRLTRACHQAMMVDQANGIEAVW
  HDESHLNKYLLRHKPTKVLSPEYLWDQQLLGWPAVLRKLRFTAVPKNHQAVRNP

• Sequence length: 354

Pathways

KEGG:

Glycosphingolipid biosynthesis - lacto and neolacto series
Glycosphingolipid biosynthesis - globo and isoglobo series
Metabolic pathways

Reactome:

ABO blood group biosynthesis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs-1, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	21829393, 30054458, 23300278, 29358691
Pancreatic cancer	Malignant neoplasm of pancreas	rs118203998, rs180177143, rs587776417, rs587776527, rs864622498, rs876659571, rs587778587, rs886039619, rs745533713, rs1555460431, rs200612497	19648918, 26098869
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	26343387, 28714975, 21378990, 29212778
Coronary heart disease	Coronary heart disease	rs-1	21239051
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17013881
Myocardial infarction	Myocardial Infarction	rs12316150, rs41303970, rs909253, rs7291467, rs2234693	26343387, 21239051
Nasopharyngeal carcinoma	Nasopharyngeal carcinoma	rs200046052	20512145

Unknown
Disease name	Disease term	dbSNP ID	References
Ischemic stroke	Ischemic stroke	rs6025, rs1799963, rs1799983, rs-1	28495826, 26908601
Allergic rhinitis	Allergic rhinitis (disorder)		30013184
Coronary arteriosclerosis	Coronary Arteriosclerosis		21378990
Diverticular bleeding	Diverticular Bleeding		30177863
Diverticular diseases	Diverticular Diseases		30177863
Duodenal ulcer	Duodenal Ulcer		22387998
Gastric ulcer	Curling Ulcer		22387998
Graves disease	Graves Disease		23612905
Mood disorder	Mood Disorders		6455458, 3249472, 7811839, 6371802
Ovarian epithelial carcinoma	Carcinoma, Ovarian Epithelial		25581431
Pancreatic neoplasm	Pancreatic Neoplasm		19648918, 26098869
Pancreatic carcinoma	Pancreatic carcinoma		26098869, 19648918, 25086665, 29422604
Prostatic neoplasms	Prostatic Neoplasms		17013881
Stomach carcinoma	Stomach Carcinoma		30281874
Stroke	Cerebrovascular accident, Acute Cerebrovascular Accidents		29531354, 26908601
Thrombosis	Deep Vein Thrombosis		26908601
Vascular diseases	Peripheral Arterial Diseases		31285632