Aliases for A4GALT Gene
Aliases for A4GALT Gene
- Alpha 1,4-Galactosyltransferase (P Blood Group) 2 3 5
- Globotriaosylceramide Synthase 2 3 4
- CD77 Synthase 2 3 4
- UDP-Galactose:Beta-D-Galactosyl-Beta1-R 4-Alpha-D-Galactosyltransferase 3 4
- Lactosylceramide 4-Alpha-Galactosyltransferase 2 3
- Alpha-1,4-N-Acetylglucosaminyltransferase 3 4
- Alpha-1,4-Galactosyltransferase 3 4
- P One Antigen (P Blood Group) 2 3
- P1/Pk Synthase 3 4
- Gb3 Synthase 2 4
- Alpha4Gal-T1 3 4
- EC 2.4.1.228 4 56
- A14GALT 3 4
External Ids for A4GALT Gene
- HGNC: 18149
- Entrez Gene: 53947
- Ensembl: ENSG00000128274
- OMIM: 607922
- UniProtKB: Q9NPC4
Previous HGNC Symbols for A4GALT Gene
- P1
Previous GeneCards Identifiers for A4GALT Gene
- GC22M039690
- GC22M041319
- GC22M041412
- GC22M043088
- GC22M026048
Summaries for A4GALT Gene
-
The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. This protein, a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
GeneCards Summary for A4GALT Gene
A4GALT (Alpha 1,4-Galactosyltransferase (P Blood Group)) is a Protein Coding gene. Diseases associated with A4GALT include Blood Group, P1pk System and Caffey Disease. Among its related pathways are Globo Sphingolipid Metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include galactosyltransferase activity and lactosylceramide 4-alpha-galactosyltransferase activity. An important paralog of this gene is A4GNT.
UniProtKB/Swiss-Prot for A4GALT Gene
-
Necessary for the biosynthesis of the Pk antigen of blood histogroup P. Catalyzes the transfer of galactose to lactosylceramide and galactosylceramide. Necessary for the synthesis of the receptor for bacterial verotoxins.
Additional gene information for A4GALT Gene
- Monarch Initiative
- Search for A4GALT at DataMed
- Search for A4GALT at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for A4GALT Gene
Genomics for A4GALT Gene
GeneHancer (GH) Regulatory Elements for A4GALT Gene
Promoters and enhancers for A4GALT Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH22I042718 | Promoter/Enhancer | 1.7 | FANTOM5 Ensembl ENCODE dbSUPER | 588.2 | +1.2 | 1214 | 2.2 | HDGF ZNF76 ZNF335 ZNF366 SCRT2 ZNF143 IKZF2 RUNX3 SMARCA5 SP3 | A4GALT SERHL2 CYB5R3 GC22M042670 | |
| GH22I042695 | Promoter/Enhancer | 1 | EPDnew ENCODE dbSUPER | 560.2 | +25.7 | 25704 | 0.7 | ZNF143 | A4GALT CYB5R3 GC22M042670 | |
| GH22I042742 | Enhancer | 1 | Ensembl ENCODE | 48.7 | -23.0 | -23015 | 3 | SOX13 TFAP4 USF1 ZNF266 DMAP1 THRB RARA FOSL1 ZNF335 ZNF121 | A4GALT POLDIP3 RN7SKP80 NAGA CYB5R3 ATP5MGL RPL5P34 ENSG00000200448 GC22M042763 | |
| GH22I042716 | Enhancer | 1.2 | Ensembl ENCODE dbSUPER | 37.5 | +4.3 | 4345 | 1.7 | PKNOX1 SMAD1 RB1 KLF17 BATF IRF4 TCF12 EGR1 SCRT2 ATF7 | A4GALT GC22M042670 | |
| GH22I042679 | Enhancer | 1.4 | FANTOM5 Ensembl ENCODE dbSUPER | 24.1 | +40.6 | 40633 | 1.5 | JUN ZBTB11 ZSCAN4 INSM2 ZBTB40 ATF2 GABPA FOSL1 JUND ZNF366 | A4GALT CYB5R3 ARFGAP3 SERHL2 NFAM1 GC22M042670 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around A4GALT on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the A4GALT gene promoter:
Regulatory Element Products
Genomic Locations for A4GALT Gene
Genomic Locations for A4GALT Gene
- chr22:42,692,117-42,721,301
- (GRCh38/hg38)
- Size:
- 29,185 bases
- Orientation:
- Minus strand
- chr22:43,088,127-43,117,304
- (GRCh37/hg19)
Genomic View for A4GALT Gene
Genes around A4GALT on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q13.2 by Ensembl
- 22q13.2 by Entrez Gene
- 22q13.2 by HGNC
A4GALT Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for A4GALT Gene
Proteins for A4GALT Gene
-
Protein details for A4GALT Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NPC4-A4GAT_HUMAN
- Recommended name:
- Lactosylceramide 4-alpha-galactosyltransferase
- Protein Accession:
- Q9NPC4
- B2R7C4
- Q9P1X5
Protein attributes for A4GALT Gene
- Size:
- 353 amino acids
- Molecular mass:
- 40499 Da
- Quaternary structure:
- No Data Available
Protein Expression for A4GALT Gene
Selected DME Specific Peptides for A4GALT Gene
- Q9NPC4:
-
- HEFMALCM
- ESRACRGVT
- ALLAQLHARYCPTTH
- LGISLLSCFPNV
- YNGWIWGHQGPQLLTRVFKKWCSI
- LPVLSDASRIAL
- CSVESAA
- LPPEAFYPIPWQ
- WKFGGIYLDTDFIVLKNL
Post-translational modifications for A4GALT Gene
Other Protein References for A4GALT Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for A4GALT
- Novus Biologicals Antibodies for A4GALT
-
Abcam antibodies for A4GALT
-
Cloud-Clone Corp. Antibodies for A4GALT
- Invitrogen Antibodies for A4GALT
- antibodies-online: Search results for 5 available A4GALT Antibodies ranked by validation data
- Compare Top A4GALT Antibodies
-
Quality Products:
- Search GeneTex for Antibodies for A4GALT
Protein Products
-
OriGene Purified Proteins for A4GALT
- Search Origene for MassSpec and Protein Over-expression Lysates for A4GALT
- Origene Custom Protein Services for A4GALT
-
Cloud-Clone Corp. Proteins for A4GALT
- Search GeneTex for Proteins for A4GALT
-
Abcam proteins for A4GALT
Assay Products
- antibodies-online: Search results for 1 available A4GALT Elisa Kits ranked by validation data
- Compare Top A4GALT Elisa Kits
-
Quality Products:
Domains & Families for A4GALT Gene
Gene Families for A4GALT Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted membrane proteins
Protein Domains for A4GALT Gene
Suggested Antigen Peptide Sequences for A4GALT Gene
- GenScript: Design optimal peptide antigens:
-
- UDP-galactose:beta-D-galactosyl-beta1-R 4-alpha-D-galactosyltransferase (A4GAT_HUMAN)
- Alpha-1,4-galactosyltransferase (B0L3P6_HUMAN)
- Alpha-1,4-galactosyltransferase (B0L3P7_HUMAN)
- Putative alpha 1,4-galactosyltransferase transcript variant IV (F2VPV4_HUMAN)
- Putative alpha 1,4-galactosyltransferase transcript variant IV (F2VPV5_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9NPC4UniProtKB/Swiss-Prot:
A4GAT_HUMAN :- The conserved DXD motif is involved in enzyme activity.
- Belongs to the glycosyltransferase 32 family.
- Domain:
-
- The conserved DXD motif is involved in enzyme activity.
- Family:
-
- Belongs to the glycosyltransferase 32 family.
Function for A4GALT Gene
Molecular function for A4GALT Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- UDP-alpha-D-galactose + beta-D-galactosyl-(1->4)-D-glucosyl-(1<->1)-ceramide = UDP + alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-D-glucosyl-(1<->1)-ceramide.
- UniProtKB/Swiss-Prot Function:
- Necessary for the biosynthesis of the Pk antigen of blood histogroup P. Catalyzes the transfer of galactose to lactosylceramide and galactosylceramide. Necessary for the synthesis of the receptor for bacterial verotoxins.
Enzyme Numbers (IUBMB) for A4GALT Gene
Phenotypes From GWAS Catalog for A4GALT Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008378 | galactosyltransferase activity | IDA | 10747952 |
| GO:0015643 | toxic substance binding | IEA | -- |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
| GO:0050512 | lactosylceramide 4-alpha-galactosyltransferase activity | IEA | -- |
Phenotypes for A4GALT Gene
- MGI mutant phenotypes for A4GALT:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for A4GALT:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for A4GALT
-
-
ViGene Biosciences lentiviral particle packaged cDNA for A4GALT gene
-
ViGene Biosciences ready-to-package AAV shRNAs for A4GALT gene
- Search ViGene Biosciences for A4GALT
CRISPR Products
-
OriGene CRISPR knockouts for A4GALT
- genomics-online: gRNA clones - Search results for 102 available PK gene related products
- Overview of 102 available PK gene related products
- Applied Biological Materials CRISPR for A4GALT
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for A4GALT
- GenScript: Design CRISPR guide RNA sequences for A4GALT
miRNA for A4GALT Gene
- miRTarBase miRNAs that target A4GALT
-
- hsa-mir-193b-3p (MIRT016300)
- hsa-mir-483-3p (MIRT644074)
- hsa-mir-4314 (MIRT644075)
- hsa-mir-4279 (MIRT644076)
- hsa-mir-7111-3p (MIRT644077)
- hsa-mir-6506-5p (MIRT644078)
- hsa-mir-619-5p (MIRT644079)
- hsa-mir-3192-5p (MIRT644080)
- hsa-mir-4646-5p (MIRT644081)
- hsa-mir-204-3p (MIRT644082)
- hsa-mir-330-5p (MIRT644083)
- hsa-mir-326 (MIRT644084)
- hsa-mir-6817-3p (MIRT644085)
- hsa-mir-6845-3p (MIRT644086)
- hsa-mir-6769b-3p (MIRT644087)
- hsa-mir-4723-3p (MIRT644088)
- hsa-mir-3183 (MIRT644089)
- hsa-mir-5193 (MIRT644090)
miRNA Products
- Search ViGene Biosciences for A4GALT
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for A4GALT
- Browse OriGene Inhibitory RNA Products For A4GALT
- genomics-online: shRNA clones - Search results for 102 available PK gene related products
- Overview of 102 available PK gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for A4GALT gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for A4GALT
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for A4GALT
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for A4GALT
- Applied Biological Materials Clones for A4GALT
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for A4GALT
-
ViGene Biosciences adenoviral particle packaged cDNA for A4GALT gene
-
ViGene Biosciences lentiviral particle packaged cDNA for A4GALT gene
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ViGene Biosciences ready-to-package AAV shRNAs for A4GALT gene
No data available for Transcription Factor Targets and HOMER Transcription for A4GALT Gene
Localization for A4GALT Gene
Subcellular locations from UniProtKB/Swiss-Prot for A4GALT Gene
- Golgi apparatus membrane; Single-pass type II membrane protein.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| golgi apparatus | 5 |
| plasma membrane | 2 |
| mitochondrion | 2 |
| cytosol | 2 |
| peroxisome | 1 |
| nucleus | 1 |
- Mitochondria (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005794 | Golgi apparatus | IEA | -- |
| GO:0016020 | membrane | IDA | 10748143 |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0030173 | integral component of Golgi membrane | NAS | 10748143 |
| GO:0070062 | extracellular exosome | HDA,IDA | 23376485 |
Pathways & Interactions for A4GALT Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Globo Sphingolipid Metabolism | ||
| 2 | Glycosphingolipid biosynthesis - lacto and neolacto series | ||
| 3 | Metabolism | ||
Pathways by source for A4GALT Gene
1 BioSystems pathway for A4GALT Gene
3 KEGG pathways for A4GALT Gene
UniProtKB/Swiss-Prot Q9NPC4-A4GAT_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for A4GALT Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001576 | globoside biosynthetic process | IEA | -- |
| GO:0006486 | protein glycosylation | IEA | -- |
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006688 | glycosphingolipid biosynthetic process | NAS | 10748143 |
| GO:0007009 | plasma membrane organization | IDA | 10747952 |
No data available for SIGNOR curated interactions for A4GALT Gene
Drugs & Compounds for A4GALT Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 3-O-Sulfogalactosylceramide (d18:1/12:0) |
|
852100-88-0 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/14:0) |
|
|
||||
| 3-O-Sulfogalactosylceramide (d18:1/16:0) |
|
862509-48-6 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/18:0) |
|
244215-65-4 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/18:1(9Z)) |
|
|
Transcripts for A4GALT Gene
mRNA/cDNA for A4GALT Gene
- (10) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (105) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for A4GALT Gene
CRISPR Products
-
OriGene CRISPR knockouts for A4GALT
- genomics-online: gRNA clones - Search results for 102 available PK gene related products
- Overview of 102 available PK gene related products
- Applied Biological Materials CRISPR for A4GALT
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for A4GALT
- GenScript: Design CRISPR guide RNA sequences for A4GALT
miRNA Products
- Search ViGene Biosciences for A4GALT
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for A4GALT
- Browse OriGene Inhibitory RNA Products For A4GALT
- genomics-online: shRNA clones - Search results for 102 available PK gene related products
- Overview of 102 available PK gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for A4GALT gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for A4GALT
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for A4GALT
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for A4GALT
- Applied Biological Materials Clones for A4GALT
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||
| SP2: | - | - | |||||||||||||
| SP3: | - | - | |||||||||||||
| SP4: | - | ||||||||||||||
| SP5: |
Expression for A4GALT Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Dermis (Integumentary System)
- Dermal Fibroblasts Dorsal Dermis
-
Fibroblasts
- Dermal Fibroblasts Dorsal Dermis
-
Spleen (Hematopoietic System)
-
Lymph (Hematopoietic System)
This gene is overexpressed in Plasma (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for A4GALT Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of A4GALT Gene:
A4GALTSOURCE GeneReport for Unigene cluster for A4GALT Gene:
Hs.105956mRNA Expression by UniProt/SwissProt for A4GALT Gene:
Q9NPC4-A4GAT_HUMAN
Tissue specificity:
Ubiquitous. Highly expressed in kidney, heart, spleen, liver, testis and placenta.
Evidence on tissue expression from TISSUES for A4GALT Gene
- Heart(2.1)
- Nervous system(2.1)
- Muscle(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for A4GALT Gene
Germ Layers:
- mesoderm
Systems:
- cardiovascular
- immune
Regions:
General:
- blood
- red blood cell
Primer Products
-
OriGene qPCR primer pairs for A4GALT
-
OriGene qPCR primer pairs and template standards for A4GALT
- genomics-online: primer clones - Search results for 102 available PK gene related products
- Overview of 102 available PK gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for A4GALT Gene
Orthologs for A4GALT Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | A4GALT 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | A4GALT 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | A4GALT 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | A4galt 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | A4galt 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | A4GALT 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | A4GALT 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | A4GALT 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | a4galt 33 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008258 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | alpha4GT1 34 33 |
|
ManyToMany | |
| CG17223 35 |
|
|
|||
| alpha4GT2 34 |
|
ManyToMany |
- Species where no ortholog for A4GALT was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Paralogs for A4GALT Gene
(12) SIMAP similar genes for A4GALT Gene using alignment to 26 proteins:
- A4GAT_HUMAN
- B0L3P6_HUMAN
- B0L3P7_HUMAN
- F2VPV4_HUMAN
- F2VPV5_HUMAN
- M1KVK7_HUMAN
- Q540I5_HUMAN
- Q540I6_HUMAN
- Q5D079_HUMAN
- Q6RJV6_HUMAN
- Q6RJV7_HUMAN
- Q6RJV8_HUMAN
- Q6RJV9_HUMAN
- Q6RJW0_HUMAN
- Q6RJW1_HUMAN
- Q7Z2I1_HUMAN
- Q7Z7C2_HUMAN
- Q7Z7C3_HUMAN
- Q7Z7C4_HUMAN
- Q7Z7C5_HUMAN
- Q7Z7C6_HUMAN
- R4X5Z8_HUMAN
- S6CPX2_HUMAN
- S6CQ09_HUMAN
- S6CQT5_HUMAN
- S6CRD2_HUMAN
Variants for A4GALT Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for A4GALT Gene
- A4GAT_HUMAN-Q9NPC4
- Genetic variation in A4GALT is responsible for the P system blood group phenotypes [MIM:111400]. Different combinations or absence of the P blood group system antigens define 5 different phenotypes: P1, P2, P1(k), P2(k), and p. Genetic variation in A4GALT determines the p phenotype, which is rare and does not express any antigens. It is also known as null phenotype; p individuals have antibodies against P, P1 and Pk antigens in their sera. These antibodies are clinically important because they can cause severe transfusion reactions and miscarriage.
| SNP ID | Clin | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs28940571 | affects, p phenotype | 42,693,200(-) | G/A/T | coding_sequence_variant, missense_variant | |
| rs28940572 | affects, p phenotype | 42,693,392(-) | C/T | coding_sequence_variant, missense_variant | |
| rs387906279 | affects, p phenotype | 42,693,709(-) | GAAGAAGA/GAAGA | coding_sequence_variant, inframe_deletion | |
| rs387906280 | affects, p phenotype | 42,692,923(-) | GGGG/GGGGG | coding_sequence_variant, frameshift | |
| rs397514502 | affects, p phenotype | 42,693,321(-) | G/C | coding_sequence_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2463n106 | CNV | deletion | 24896259 |
| esv2661754 | CNV | deletion | 23128226 |
| esv2672336 | CNV | deletion | 23128226 |
| esv2724288 | CNV | deletion | 23290073 |
| esv2724289 | CNV | deletion | 23290073 |
| esv3028234 | CNV | deletion | 24192839 |
| esv3558195 | CNV | deletion | 23714750 |
| esv3558196 | CNV | deletion | 23714750 |
| esv3647838 | CNV | loss | 21293372 |
| esv3647839 | CNV | loss | 21293372 |
| nsv1072639 | CNV | deletion | 25765185 |
| nsv191539 | CNV | deletion | 16902084 |
| nsv428391 | CNV | gain | 18775914 |
| nsv955464 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
26.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.70;
32.38% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for A4GALT Gene
- Human Gene Mutation Database (HGMD)
- A4GALT
- Blood Group Antigen Gene Mutation Database (BGMUT)
- Blood Group System
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- A4GALT
SNP Genotyping and Copy Number Assay Products
Disorders for A4GALT Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| blood group, p1pk system |
|
|
| caffey disease |
|
|
| fabry disease |
|
|
Search A4GALT in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for A4GALT
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for A4GALT Gene
Publications for A4GALT Gene
- Three-base deletion and one-base insertion of the alpha(1,4)galactosyltransferase gene responsible for the P phenotype. (PMID: 11896312) Koda Y … Kimura H (Transfusion 2002) 3 4 22 58
- Cloning of Gb3 synthase, the key enzyme in globo-series glycosphingolipid synthesis, predicts a family of alpha 1, 4-glycosyltransferases conserved in plants, insects, and mammals. (PMID: 10854428) Keusch JJ … Baenziger JU (The Journal of biological chemistry 2000) 2 3 22 58
- Cloning and expression of the histo-blood group Pk UDP-galactose: Ga1beta-4G1cbeta1-cer alpha1, 4-galactosyltransferase. Molecular genetic basis of the p phenotype. (PMID: 10747952) Steffensen R … Clausen H (The Journal of biological chemistry 2000) 3 4 22 58
- Molecular basis for the p phenotype. Identification of distinct and multiple mutations in the alpha 1,4-galactosyltransferase gene in Swedish and Japanese individuals. (PMID: 10993874) Furukawa K … Furukawa K (The Journal of biological chemistry 2000) 3 4 22 58
- Identification of a novel A4GALT exon reveals the genetic basis of the P1/P2 histo-blood groups. (PMID: 20971946) Thuresson B … Olsson ML (Blood 2011) 2 3 58
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Sources for A4GALT Gene
- (1) GeneCards
- (2) HGNC
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- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
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- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
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- (80) miRTarBase
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