Details for: ABO

Gene ID: 28

Symbol: ABO

Ensembl ID: ENSG00000175164

Description: ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 6.2916
    Cell Significance Index: 65.1300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 3.1267
    Cell Significance Index: 42.6600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.9314
    Cell Significance Index: 152.2800
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 2.1897
    Cell Significance Index: 22.0900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 2.0577
    Cell Significance Index: 123.5300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 2.0391
    Cell Significance Index: 58.7500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 2.0304
    Cell Significance Index: 92.0300
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.6911
    Cell Significance Index: 25.3400
  • Cell Name: peg cell (CL4033014)
    Fold Change: 1.3453
    Cell Significance Index: 31.0800
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.2329
    Cell Significance Index: 17.5500
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 1.1897
    Cell Significance Index: 12.6400
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.0071
    Cell Significance Index: 8.5600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.9746
    Cell Significance Index: 67.4000
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.9210
    Cell Significance Index: 9.5000
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.8396
    Cell Significance Index: 5.1800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.7633
    Cell Significance Index: 20.0700
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.7090
    Cell Significance Index: 10.1600
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.6819
    Cell Significance Index: 7.7200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.6729
    Cell Significance Index: 14.3300
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.6651
    Cell Significance Index: 6.1300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6359
    Cell Significance Index: 103.4300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5682
    Cell Significance Index: 12.3100
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.5471
    Cell Significance Index: 3.8500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.5298
    Cell Significance Index: 95.5100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5007
    Cell Significance Index: 49.5300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4652
    Cell Significance Index: 50.6000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.4283
    Cell Significance Index: 11.9700
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.3880
    Cell Significance Index: 5.5800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3807
    Cell Significance Index: 46.8200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3179
    Cell Significance Index: 287.0300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.2752
    Cell Significance Index: 9.6700
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.2274
    Cell Significance Index: 2.4700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2220
    Cell Significance Index: 42.2500
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.2053
    Cell Significance Index: 2.8800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1061
    Cell Significance Index: 18.1300
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.0707
    Cell Significance Index: 0.4900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0565
    Cell Significance Index: 20.2600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0556
    Cell Significance Index: 11.1600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0486
    Cell Significance Index: 5.5700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0384
    Cell Significance Index: 20.9800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.0333
    Cell Significance Index: 1.0600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0167
    Cell Significance Index: 12.6300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0154
    Cell Significance Index: 28.9900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0052
    Cell Significance Index: -3.5800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0054
    Cell Significance Index: -9.9800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0067
    Cell Significance Index: -10.3400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0071
    Cell Significance Index: -5.2800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0076
    Cell Significance Index: -10.3400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0113
    Cell Significance Index: -8.2900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0123
    Cell Significance Index: -7.6800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0124
    Cell Significance Index: -7.0100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0165
    Cell Significance Index: -10.5000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0206
    Cell Significance Index: -9.3700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0213
    Cell Significance Index: -4.2200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0259
    Cell Significance Index: -0.7100
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.0271
    Cell Significance Index: -0.4200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0281
    Cell Significance Index: -0.9000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0281
    Cell Significance Index: -3.2800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0346
    Cell Significance Index: -4.7500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0349
    Cell Significance Index: -5.0800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0351
    Cell Significance Index: -3.5900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0366
    Cell Significance Index: -10.5200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0441
    Cell Significance Index: -9.2800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0540
    Cell Significance Index: -6.9200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0635
    Cell Significance Index: -4.8700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0656
    Cell Significance Index: -1.6400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0681
    Cell Significance Index: -2.2300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0740
    Cell Significance Index: -9.5600
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.0767
    Cell Significance Index: -0.5000
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: -0.0778
    Cell Significance Index: -0.7700
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: -0.0888
    Cell Significance Index: -0.3400
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.0942
    Cell Significance Index: -0.7200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1003
    Cell Significance Index: -10.4400
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.1043
    Cell Significance Index: -1.3000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1055
    Cell Significance Index: -12.4500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1146
    Cell Significance Index: -8.5400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1186
    Cell Significance Index: -7.2700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1308
    Cell Significance Index: -6.1000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1364
    Cell Significance Index: -10.8000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1433
    Cell Significance Index: -5.2600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1446
    Cell Significance Index: -3.0000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1470
    Cell Significance Index: -6.9100
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.1476
    Cell Significance Index: -2.1200
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1479
    Cell Significance Index: -3.6900
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.1497
    Cell Significance Index: -1.8900
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1540
    Cell Significance Index: -2.3200
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.1566
    Cell Significance Index: -2.5800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1672
    Cell Significance Index: -8.7100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1721
    Cell Significance Index: -6.0300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1821
    Cell Significance Index: -11.7500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1832
    Cell Significance Index: -4.6800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1852
    Cell Significance Index: -10.3900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1862
    Cell Significance Index: -7.0500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1876
    Cell Significance Index: -8.3000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1882
    Cell Significance Index: -9.8800
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.1967
    Cell Significance Index: -3.1200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2030
    Cell Significance Index: -5.9800
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.2140
    Cell Significance Index: -2.2200
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.2382
    Cell Significance Index: -2.6000
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.2384
    Cell Significance Index: -3.1800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Enzymatic activity:** The ABO gene encodes for two enzymes, alpha 1-3-NAT and alpha 1-3-GT, which are responsible for transferring galactose residues to specific carbohydrate moieties. 2. **Blood group antigens:** The ABO blood group antigens are formed through the action of these enzymes and are crucial for determining an individual's blood type. 3. **Tissue expression:** The ABO gene is expressed in various tissues, including tracheal goblet cells, corneal epithelial cells, intestinal crypt stem cells, and lung goblet cells. 4. **Molecular weight:** The ABO gene product has a molecular weight of approximately 46 kDa. **Pathways and Functions:** 1. **Glycoprotein biosynthesis:** The ABO gene plays a critical role in the synthesis of glycoproteins, which are essential for maintaining tissue homeostasis and cell-cell interactions. 2. **Antigen presentation:** The ABO blood group antigens are recognized by the immune system, and the ABO gene helps to regulate the presentation of these antigens to T-cells. 3. **Cell adhesion:** The ABO blood group antigens are involved in cell adhesion, and the ABO gene helps to regulate this process. 4. **Mucin synthesis:** The ABO gene is involved in the synthesis of mucins, which are essential for maintaining the integrity of epithelial tissues. **Clinical Significance:** 1. **Blood transfusion reactions:** The ABO blood group system is critical for preventing transfusion reactions, which can be life-threatening. 2. **Cancer therapy:** The ABO gene is involved in the synthesis of glycoproteins, which are essential for cancer cell adhesion and migration. 3. **Infectious diseases:** The ABO blood group system is involved in the recognition of pathogens, and the ABO gene helps to regulate the immune response to these pathogens. 4. **Neurological disorders:** The ABO gene is involved in the synthesis of glycoproteins, which are essential for maintaining the integrity of the blood-brain barrier and preventing neurological disorders. In conclusion, the ABO gene plays a crucial role in the synthesis of the ABO blood group antigens, which are essential for determining an individual's blood type. The ABO gene is expressed in various tissues and is involved in glycoprotein biosynthesis, antigen presentation, cell adhesion, and mucin synthesis. The clinical significance of the ABO gene is evident in blood transfusion reactions, cancer therapy, infectious diseases, and neurological disorders. Further research is necessary to fully understand the complexities of the ABO gene and its role in maintaining tissue homeostasis and regulating the immune response.

Genular Protein ID: 1625791966

Symbol: BGAT_HUMAN

Name: Histo-blood group ABO system transferase

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2104828

Title: Cloning and characterization of DNA complementary to human UDP-GalNAc: Fuc alpha 1-->2Gal alpha 1-->3GalNAc transferase (histo-blood group A transferase) mRNA.

PubMed ID: 2104828

DOI: 10.1016/s0021-9258(19)40170-1

PubMed ID: 2333095

Title: Molecular genetic basis of the histo-blood group ABO system.

PubMed ID: 2333095

DOI: 10.1038/345229a0

PubMed ID: 7598760

Title: Genomic cloning of the human histo-blood group ABO locus.

PubMed ID: 7598760

DOI: 10.1006/bbrc.1995.1044

PubMed ID: 7779106

Title:

PubMed ID: 7779106

DOI: 10.1006/bbrc.1995.1817

PubMed ID: 16533287

Title: A weak blood group A phenotype caused by a translation-initiator mutation in the ABO gene.

PubMed ID: 16533287

DOI: 10.1111/j.1537-2995.2006.00740.x

PubMed ID: 17764507

Title: Weak blood group B phenotypes may be caused by variations in the CCAAT-binding factor/NF-Y enhancer region of the ABO gene.

PubMed ID: 17764507

DOI: 10.1111/j.1537-2995.2007.01475.x

PubMed ID: 18513251

Title: Aberrant intracellular trafficking of a variant B glycosyltransferase.

PubMed ID: 18513251

DOI: 10.1111/j.1537-2995.2008.01782.x

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12829588

Title: The nature of diversity and diversification at the ABO locus.

PubMed ID: 12829588

DOI: 10.1182/blood-2003-03-0955

PubMed ID: 8839869

Title: Molecular genetic analysis of variant phenotypes of the ABO blood group system.

PubMed ID: 8839869

PubMed ID: 9800297

Title: Heterogeneity of the blood group Ax allele: genetic recombination of common alleles can result in the Ax phenotype.

PubMed ID: 9800297

DOI: 10.1046/j.1365-3148.1998.00161.x

PubMed ID: 15104652

Title: Evolution of the O alleles of the human ABO blood group gene.

PubMed ID: 15104652

DOI: 10.1111/j.1537-2995.2004.03346.x

PubMed ID: 1449469

Title: Animal histo-blood group ABO genes.

PubMed ID: 1449469

DOI: 10.1016/0006-291x(92)91538-2

PubMed ID: 2121736

Title: Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid substitutions.

PubMed ID: 2121736

DOI: 10.1016/s0021-9258(17)30652-x

PubMed ID: 10462501

Title: The molecular basis for the B(A) allele: an amino acid alteration in the human histoblood group B alpha-(1,3)-galactosyltransferase increases its intrinsic alpha-(1,3)-N-acetylgalactosaminyltransferase activity.

PubMed ID: 10462501

DOI: 10.1006/bbrc.1999.1246

PubMed ID: 12198488

Title: The structural basis for specificity in human ABO(H) blood group biosynthesis.

PubMed ID: 12198488

DOI: 10.1038/nsb832

PubMed ID: 12529355

Title: A single point mutation reverses the donor specificity of human blood group B-synthesizing galactosyltransferase.

PubMed ID: 12529355

DOI: 10.1074/jbc.m212002200

PubMed ID: 12972418

Title: The influence of an intramolecular hydrogen bond in differential recognition of inhibitory acceptor analogs by human ABO(H) blood group A and B glycosyltransferases.

PubMed ID: 12972418

DOI: 10.1074/jbc.m308770200

PubMed ID: 15475562

Title: Structural basis for the inactivity of human blood group O2 glycosyltransferase.

PubMed ID: 15475562

DOI: 10.1074/jbc.m410245200

PubMed ID: 16326711

Title: Differential recognition of the type I and II H antigen acceptors by the human ABO(H) blood group A and B glycosyltransferases.

PubMed ID: 16326711

DOI: 10.1074/jbc.m507620200

PubMed ID: 17259183

Title: Structural effects of naturally occurring human blood group B galactosyltransferase mutations adjacent to the DXD motif.

PubMed ID: 17259183

DOI: 10.1074/jbc.m610998200

Sequence Information:

  • Length: 354
  • Mass: 40934
  • Checksum: A03DA16E630C1608
  • Sequence:
  • MAEVLRTLAG KPKCHALRPM ILFLIMLVLV LFGYGVLSPR SLMPGSLERG FCMAVREPDH 
    LQRVSLPRMV YPQPKVLTPC RKDVLVVTPW LAPIVWEGTF NIDILNEQFR LQNTTIGLTV 
    FAIKKYVAFL KLFLETAEKH FMVGHRVHYY VFTDQPAAVP RVTLGTGRQL SVLEVRAYKR 
    WQDVSMRRME MISDFCERRF LSEVDYLVCV DVDMEFRDHV GVEILTPLFG TLHPGFYGSS 
    REAFTYERRP QSQAYIPKDE GDFYYLGGFF GGSVQEVQRL TRACHQAMMV DQANGIEAVW 
    HDESHLNKYL LRHKPTKVLS PEYLWDQQLL GWPAVLRKLR FTAVPKNHQA VRNP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.