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

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
28
Gene name Gene Name - the full gene name approved by the HGNC.
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ABO
Synonyms (NCBI Gene) Gene synonyms aliases
A3GALNT, A3GALT1, GTB, NAGAT
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 information provided by dbSNP.
Gene SNPs Other IDs Associated diseases
Show/Hide all(2)
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 miRNA information provided by mirtarbase database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(13)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0000166 Function Nucleotide binding IMP 12198488
GO:0003823 Function Antigen binding IMP 12198488
GO:0004380 Function Glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity IBA
GO:0004380 Function Glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
110300 79 ENSG00000175164
Protein
Gene SNPs Other IDs Associated diseases
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
Tissue specificity TISSUE SPECIFICITY: Expressed at high levels in testis. Also expressed in pancreas, uterus and lung and salivary gland. {ECO:0000269|PubMed:7598760}.
Sequence
Sequence length 354
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Other IDs Associated diseases
Show/Hide Unknown Diseases (23)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Cardioembolic Stroke Cardioembolic stroke N/A N/A GWAS
Cholelithiasis Cholelithiasis N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Show/Hide Text Mining Associations (134)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 26600159, 37334748
Adenocarcinoma Mucinous Associate 26075384
Alcoholism Associate 21792085
Alzheimer Disease Associate 25668062, 37334594
amyloidosis IX Associate 21829393
Anemia Sickle Cell Associate 15679419, 33666655, 37426651
Anxiety Associate 31871497
Asthma Associate 11491170, 33328473
Atherosclerosis Associate 27542834
Atrial Fibrillation Associate 40304040