ABO (gene)

From Wikipedia, the free encyclopedia

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

PDB rendering based on 1lz0.

Available structures: 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

Identifiers

Symbol(s)

ABO; A3GALNT; A3GALT1; GTB; NAGAT

External IDs

OMIM: 110300 HomoloGene: 69306

Gene ontology
Molecular Function:	• glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity • fucosylgalactoside 3-alpha-galactosyltransferase activity • transferase activity • transferase activity, transferring hexosyl groups • manganese ion binding • metal ion binding
Cellular Component:	• cellular_component • extracellular region • membrane • integral to membrane • integral to Golgi membrane
Biological Process:	• carbohydrate metabolic process • protein amino acid glycosylation • biological_process • biosynthetic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

n/a

n/a

Refseq

NM_020469 (mRNA)
NP_065202 (protein)

n/a (mRNA)
n/a (protein)

Location

Chr 9: 135.12 - 135.14 Mb

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Pubmed search

[1]

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ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase), also known as ABO, is a human gene.^[1]

[edit] References

^ Entrez Gene: ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase).

[edit] Further reading

Ferguson-Smith MA, Aitken DA, Turleau C, de Grouchy J (1976). "Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34.". Hum. Genet. 34 (1): 35-43. PMID 184030.
Nagai M, Davè V, Kaplan BE, Yoshida A (1978). "Human blood group glycosyltransferases. I. Purification of n-acetylgalactosaminyltransferase.". J. Biol. Chem. 253 (2): 377-9. PMID 618875.
Takeya A, Hosomi O, Shimoda N, Yazawa S (1992). "Biosynthesis of the blood group P antigen-like GalNAc beta 1-->3Gal beta 1-->4GlcNAc/Glc structure: a novel N-acetylgalactosaminyltransferase in human blood plasma.". J. Biochem. 112 (3): 389-95. PMID 1429528.
Kominato Y, McNeill PD, Yamamoto M, et al. (1992). "Animal histo-blood group ABO genes.". Biochem. Biophys. Res. Commun. 189 (1): 154-64. PMID 1449469.
Yamamoto F, McNeill PD, Hakomori S (1992). "Human histo-blood group A2 transferase coded by A2 allele, one of the A subtypes, is characterized by a single base deletion in the coding sequence, which results in an additional domain at the carboxyl terminal.". Biochem. Biophys. Res. Commun. 187 (1): 366-74. PMID 1520322.
Clausen H, White T, Takio K, et al. (1990). "Isolation to homogeneity and partial characterization of a histo-blood group A defined Fuc alpha 1----2Gal alpha 1----3-N-acetylgalactosaminyltransferase from human lung tissue.". J. Biol. Chem. 265 (2): 1139-45. PMID 2104827.
Yamamoto F, Marken J, Tsuji T, et al. (1990). "Cloning and characterization of DNA complementary to human UDP-GalNAc: Fuc alpha 1----2Gal alpha 1----3GalNAc transferase (histo-blood group A transferase) mRNA.". J. Biol. Chem. 265 (2): 1146-51. PMID 2104828.
Yamamoto F, Hakomori S (1990). "Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid substitutions.". J. Biol. Chem. 265 (31): 19257-62. PMID 2121736.
Yamamoto F, Clausen H, White T, et al. (1990). "Molecular genetic basis of the histo-blood group ABO system.". Nature 345 (6272): 229-33. doi:10.1038/345229a0. PMID 2333095.
Whitehead JS, Bella S, Kim YS (1974). "An N-acetylgalactosaminyltransferase from human blood group A plasma. II. Kinetic and physicochemical properties.". J. Biol. Chem. 249 (11): 3448-52. PMID 4831223.
Whitehead JS, Bella A, Kim YS (1974). "An N-acetylgalactosaminyltransferase from human blood group A plasma. I. Purification and agarose binding properties.". J. Biol. Chem. 249 (11): 442-7. PMID 4831233.
Kobata A, Ginsburg V (1970). "Uridine diphosphate-N-acetyl-D-galactosamine: D-galactose alpha-3-N-acetyl-D-galactosaminyltransferase, a product of the gene that determines blood type A in man.". J. Biol. Chem. 245 (6): 1484-90. PMID 5442829.
Yoshida A, Yamaguchi H, Okubo Y (1980). "Genetic mechanism of cis-AB inheritance. I. A case associated with unequal chromosomal crossing over.". Am. J. Hum. Genet. 32 (3): 332-8. PMID 6770676.
Olsson ML, Thuresson B, Chester MA (1995). "An Ael allele-specific nucleotide insertion at the blood group ABO locus and its detection using a sequence-specific polymerase chain reaction.". Biochem. Biophys. Res. Commun. 216 (2): 642-7. doi:10.1006/bbrc.1995.2670. PMID 7488159.
Bennett EP, Steffensen R, Clausen H, et al. (1995). "Genomic cloning of the human histo-blood group ABO locus.". Biochem. Biophys. Res. Commun. 206 (1): 318-25. PMID 7598760.
Yamamoto F, McNeill PD, Hakomori S (1995). "Genomic organization of human histo-blood group ABO genes.". Glycobiology 5 (1): 51-8. PMID 7772867.
Bennett EP, Steffensen R, Clausen H, et al. (1995). "Genomic cloning of the human histo-blood group ABO locus.". Biochem. Biophys. Res. Commun. 211 (1): 347. PMID 7779106.
Yamamoto F, McNeill PD, Kominato Y, et al. (1993). "Molecular genetic analysis of the ABO blood group system: 2. cis-AB alleles.". Vox Sang. 64 (2): 120-3. PMID 8456556.
Yamamoto F, McNeill PD, Yamamoto M, et al. (1993). "Molecular genetic analysis of the ABO blood group system: 3. A(X) and B(A) alleles.". Vox Sang. 64 (3): 171-4. PMID 8484250.
Ogasawara K, Yabe R, Uchikawa M, et al. (1996). "Molecular genetic analysis of variant phenotypes of the ABO blood group system.". Blood 88 (7): 2732-7. PMID 8839869.