Human Gene ABO (ENST00000611156.4) from GENCODE V38
  Description: Homo sapiens ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase (ABO), mRNA. (from RefSeq NM_020469)
RefSeq Summary (NM_020469): 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' 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, Sep 2019]. Sequence Note: This RefSeq record represents the ABO*A1.01 allele.
Gencode Transcript: ENST00000611156.4
Gencode Gene: ENSG00000175164.16
Transcript (Including UTRs)
   Position: hg38 chr9:133,255,176-133,275,214 Size: 20,039 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg38 chr9:133,255,666-133,275,189 Size: 19,524 Coding Exon Count: 8 

Page IndexSequence and LinksCTDRNA-Seq ExpressionMicroarray ExpressionRNA Structure
Other SpeciesmRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2021-09-27 09:51:20

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:133,255,176-133,275,214)mRNA (may differ from genome)Protein (353 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
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HPRDLynxMGIOMIMPubMedUniProtKB
Wikipedia

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.16 RPKM in Small Intestine - Terminal Ileum
Total median expression: 73.40 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -2.8025-0.112 Picture PostScript Text
3' UTR -69.50490-0.142 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Descriptions from all associated GenBank mRNAs
  AK124587 - Homo sapiens cDNA FLJ42596 fis, clone BRACE3010283.
U15197 - Human histo-blood group ABO protein mRNA, partial 3' UTR sequence.
JX519569 - Homo sapiens isolate ABO-815A ABO blood group protein (ABO) mRNA, complete cds.
JX519570 - Homo sapiens isolate ABO-248G ABO blood group protein (ABO) mRNA, complete cds.
AK302203 - Homo sapiens cDNA FLJ57663 complete cds, highly similar to Histo-blood group ABO system transferase.
S44054 - Homo sapiens histo-blood group A2 transferase (ABO) mRNA, partial cds.
JX398332 - Homo sapiens ABO weak transfer variant (ABO) mRNA, complete cds.
JX398333 - Homo sapiens ABO A3 transferase variant (ABO) mRNA, complete cds.
AY579471 - Homo sapiens A transferase (ABO) mRNA, ABO-cis-AB allele, partial cds.
AY727862 - Homo sapiens ABO transferase (ABO) mRNA, ABO-cis weak AB allele, partial cds.
AF134412 - Homo sapiens A1-specific alpha 1->3 N-acetylgalactosaminyltransferase (ABO) mRNA, ABO-*A101 allele, complete cds.
AF134413 - Homo sapiens A1-specific alpha 1->3 N-acetylgalactosaminyltransferase (ABO) mRNA, ABO-*A102 allele, complete cds.
AF134414 - Homo sapiens B-specific alpha 1->3 galactosyltransferase (ABO) mRNA, ABO-*B101 allele, complete cds.
AF134415 - Homo sapiens O-specific alpha 1->3 N-acetylgalactosaminyltransferase (ABO) pseudogene, ABO-*O01 allele, mRNA sequence.
AF134416 - Homo sapiens O-specific alpha 1->3 N-acetylgalactosaminyltransferase (ABO) pseudogene, ABO-*O02 allele, mRNA sequence.
BC069595 - Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase), mRNA (cDNA clone MGC:97185 IMAGE:7262430), complete cds.
BC069605 - Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase), mRNA (cDNA clone IMAGE:7262442), containing frame-shift errors.
BC111575 - Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase), mRNA (cDNA clone MGC:133374 IMAGE:40069575), complete cds.
DQ139865 - Homo sapiens B(A) alpha-1,3-galactosyltransferase mRNA, complete cds.
FR691751 - Homo sapiens mRNA for ABO glycosyltransferase (ABO gene), weak A (C502G) allele.
FR691752 - Homo sapiens mRNA for ABO glycosyltransferase (ABO gene), weak A (V86E) allele.
J05175 - Human histo-blood group A transferase (UDP-GalNAc) mRNA, complete cds.
JN791441 - Homo sapiens B-specific 1-3-galactosyltransferase variant 1 (ABO) mRNA, complete cds.
JX398330 - Homo sapiens ABO weak transfer variant (ABO) mRNA, complete cds.
JX398331 - Homo sapiens ABO weak transfer variant (ABO) mRNA, complete cds.
KT282967 - Homo sapiens A1-specific alpha 1-3-N-acetylgalactosaminyltransferase (ABO) mRNA, complete cds.
KJ896361 - Synthetic construct Homo sapiens clone ccsbBroadEn_05755 ABO gene, encodes complete protein.
BC069814 - Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase), mRNA (cDNA clone IMAGE:7262418), partial cds.
CU686922 - Synthetic construct Homo sapiens gateway clone IMAGE:100022646 5' read ABO mRNA.
LT596166 - Homo sapiens partial mRNA for Transferase (ABO gene), isolate 29-2016, allele A101 IVS 6+3 A>T.
MK302441 - Homo sapiens B-specific alpha 1->3 galactosyltransferase (ABO) mRNA, ABO*01 allele, complete cds.
MK144787 - Homo sapiens A1-specific alpha 1->3 N-acetylgalactosaminyltransferase (ABO) mRNA, ABO-A102 allele, complete cds.
MK568546 - Homo sapiens clone 19 ABO antigen (ABO) mRNA, ABO-B allele, complete cds.
MK631949 - Homo sapiens alpha-1,3-N-acetylgalactosaminyltransferase (ABO) mRNA, ABO*A1.01 allele, partial cds.
MK640210 - Homo sapiens B-specific alpha 1-3-galactosyltransferase (ABO) mRNA, ABO*B.01 allele, complete cds.
MK654726 - Homo sapiens B(A)-specific glycosyltransferase (ABO) mRNA, complete cds.
MK288020 - Homo sapiens glycosyltransferase B (ABO) mRNA, ABO-B variant(c.350G>T) allele, partial cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00601 - Glycosphingolipid biosynthesis - lacto and neolacto series
hsa01100 - Metabolic pathways

-  Other Names for This Gene
  Alternate Gene Symbols: A0A087X0C2, ENST00000611156.1, ENST00000611156.2, ENST00000611156.3, NM_020469, uc033djz.1
UCSC ID: ENST00000611156.4
RefSeq Accession: NM_020469

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.