ABO (gene)

ABO
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	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, 2RIT, 2RIX, 2RIY, 2RIZ, 2RJ0, 2RJ1, 2RJ4, 2RJ5, 2RJ6, 2RJ7, 2RJ8, 2RJ9, 2Y7A, 3I0C, 3I0D, 3I0E, 3I0F, 3I0G, 3I0H, 3I0I, 3I0J, 3I0K, 3I0L, 3IOH, 3IOI, 3IOJ, 3SX3, 3SX5, 3SX7, 3SX8, 3SXA, 3SXB, 3SXC, 3SXD, 3SXE, 3SXG, 3U0X, 3U0Y, 3V0L, 3V0M, 3V0N, 3V0O, 3V0P, 3V0Q, 3ZGF, 4C2S, 4KC1, 4KC2, 4KC4, 3ZGG, 4FQW, 4FRA, 4FRB, 4FRD, 4FRE, 4FRH, 4FRL, 4FRO, 4FRP, 4FRQ, 4GBP, 4KXO, 4Y62, 4Y63, 4Y64, 5BXC, 5C1G, 5C1H, 5C1L, 5C36, 5C38, 5C3A, 5C3B, 5C3D, 5C47, 5C48, 5C49, 5C4B, 5C4C, 5C4D, 5C4E, 5C4F, 5C8R, 5CMI, 2PGY
Identifiers
Aliases	ABO, A3GALNT, A3GALT1, GTB, NAGAT, ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase), alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
External IDs	OMIM: 110300; MGI: 2135738; HomoloGene: 69306; GeneCards: ABO; OMA:ABO - orthologs
EC number	2.4.1.37 2.4.1.40, 2.4.1.37
Gene location (Human)
Chr.	Chromosome 9 (human)
End	133,276,024 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	26,754,991 bp
RNA expression pattern
	Top expressed in
	tendon of biceps brachii; ; buccal mucosa cell; ; right lobe of thyroid gland; ; right uterine tube; ; left lobe of thyroid gland; ; left ovary; ; rectum; ; right adrenal cortex; ; left adrenal gland; ; left adrenal cortex;
	Top expressed in
	submandibular gland; ; lacrimal gland; ; morula; ; parotid gland; ; spermatocyte; ; esophagus; ; blastocyst; ; embryo; ; seminal vesicula; ; transitional epithelium of urinary bladder;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	transferase activity; hexosyltransferase activity; metal ion binding; fucosylgalactoside 3-alpha-galactosyltransferase activity; glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity; glycosyltransferase activity; nucleotide binding; antigen binding; manganese ion binding;
Cellular component	integral component of membrane; extracellular region; Golgi cisterna membrane; membrane; Golgi apparatus; vesicle;
Biological process	protein glycosylation; glycolipid biosynthetic process; lipid glycosylation; carbohydrate metabolic process;
	Sources:Amigo / QuickGO
Orthologs
	28
	80908
	ENSG00000175164; ENSG00000281879
	ENSMUSG00000015787
	P16442
	P38649
	NM_020469
	NM_030718; NM_001290444
	NP_065202
	NP_001277373; NP_109643
	Wikidata
View/Edit Human	View/Edit Mouse

Histo-blood group ABO system transferase is an enzyme with glycosyltransferase activity, which is encoded by the ABO gene in humans.^[5]^[6] It is ubiquitously expressed in many tissues and cell types.^[7] ABO determines the ABO blood group of an individual by modifying the oligosaccharides on cell surface glycoproteins. Variations in the sequence of the protein between individuals determine the type of modification and the blood group. The ABO gene also contains one of 27 SNPs associated with increased risk of coronary artery disease.^[8]

^ ^a ^b ^c ENSG00000281879 GRCh38: Ensembl release 89: ENSG00000175164, ENSG00000281879 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000015787 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Ferguson-Smith MA, Aitken DA, Turleau C, de Grouchy J (September 1976). "Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34". Human Genetics. 34 (1): 35–43. doi:10.1007/BF00284432. PMID 184030. S2CID 12384399.
^ "Entrez Gene: ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)".
^ "BioGPS - your Gene Portal System". biogps.org. Retrieved 2016-10-11.
^ Mega JL, Stitziel NO, Smith JG, Chasman DI, Caulfield MJ, Devlin JJ, Nordio F, Hyde CL, Cannon CP, Sacks FM, Poulter NR, Sever PS, Ridker PM, Braunwald E, Melander O, Kathiresan S, Sabatine MS (June 2015). "Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials". Lancet. 385 (9984): 2264–71. doi:10.1016/S0140-6736(14)61730-X. PMC 4608367. PMID 25748612.

[refGRCh38Ensembl-1] ENSG00000281879 GRCh38: Ensembl release 89: ENSG00000175164, ENSG00000281879 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000015787 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid184030-5] Ferguson-Smith MA, Aitken DA, Turleau C, de Grouchy J (September 1976). "Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34". Human Genetics. 34 (1): 35–43. doi:10.1007/BF00284432. PMID 184030. S2CID 12384399.

[entrez-6] "Entrez Gene: ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)".

[7] "BioGPS - your Gene Portal System". biogps.org. Retrieved 2016-10-11.

[Mega_2015-8] Mega JL, Stitziel NO, Smith JG, Chasman DI, Caulfield MJ, Devlin JJ, Nordio F, Hyde CL, Cannon CP, Sacks FM, Poulter NR, Sever PS, Ridker PM, Braunwald E, Melander O, Kathiresan S, Sabatine MS (June 2015). "Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials". Lancet. 385 (9984): 2264–71. doi:10.1016/S0140-6736(14)61730-X. PMC 4608367. PMID 25748612.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]