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` bloo

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1924317	hsa-miR-1908	CLIP-seq
MIRT1924318	hsa-miR-3650	CLIP-seq
MIRT1924319	hsa-miR-4455	CLIP-seq
MIRT1924320	hsa-miR-4706	CLIP-seq
MIRT1924321	hsa-miR-4728-5p	CLIP-seq
MIRT1924322	hsa-miR-4749-5p	CLIP-seq
MIRT1924323	hsa-miR-663	CLIP-seq
MIRT1924321	hsa-miR-4728-5p	CLIP-seq
MIRT2442974	hsa-miR-297	CLIP-seq
MIRT2442975	hsa-miR-4652-3p	CLIP-seq
MIRT2442976	hsa-miR-4711-3p	CLIP-seq
MIRT2442977	hsa-miR-511	CLIP-seq
MIRT2442978	hsa-miR-567	CLIP-seq

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) (Glycoprotei
• 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 (b
• 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