ABO

GENE INFORMATION

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Gene name

ABO (HGNC Symbol)

Synonyms

A3GALNT, A3GALT1

Description

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

Entrez gene summary

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, Jul 2008]

Chromosome

9

Cytoband

q34.2

Chromosome location (bp)

133250401 - 133275214

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000175164 (version 78.38)

Entrez gene

28

UniProt

P16442 (UniProt - Evidence at protein level)

neXtProt

NX_P16442

Antibodypedia

ABO antibodies
 

PROTEIN VIEW

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ABO-201
 
ABO-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ABO-201 ENSP00000483018
ENST00000538324
Q8WXZ2
Show all »
Show » Show » 373 42.9 No 1
ABO-202 ENSP00000483265
ENST00000611156
P16442
Show all »
Show » Show » 353 40.8 No 1