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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... See more...
Aliases for A4GALT Gene
Aliases for A4GALT Gene
- Alpha 1,4-Galactosyltransferase (P Blood Group) 2 3 5
- Lactosylceramide 4-Alpha-Galactosyltransferase 2 3 4
- Globotriaosylceramide Synthase 2 3 4
- CD77 Synthase 2 3 4
- UDP-Galactose:Beta-D-Galactosyl-Beta1-R 4-Alpha-D-Galactosyltransferase 3 4
- 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
- Alpha4Gal-T1 3 4
- Gb3 Synthase 2 4
- EC 2.4.1.228 4 52
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 Glycosphingolipid biosynthesis - lacto and neolacto series. 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 Summary for A4GALT Gene
-
Catalyzes the transfer of galactose from UDP-alpha-D-galactose to lactosylceramide/beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide(d18:1(4E)) to produce globotriaosylceramide/globoside Gb3Cer (d18:1(4E)) (PubMed:10748143). Also able to transfer galactose to galactosylceramide/beta-D-Gal-(1<->1')-Cer (PubMed:10748143). Globoside Gb3Cer is a glycosphingolipid of the globo serie, one of the major types of neutral root structures of glycosphingolipids, that constitute a significant portion of mammalian cell membranes (Probable). Globotriaosylceramide/globoside Gb3Cer in blood and tissue cell membranes is the antigen Pk of blood histogroup P (PubMed:10747952).
-
(Microbial infection) Globotriaosylceramide is one of the cellular ligands 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 , Rfam classification and piRNA Summary for A4GALT Gene
Genomics for A4GALT Gene
GeneHancer (GH) Regulatory Elements for A4GALT Gene
Promoters and enhancers for A4GALT Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around A4GALT on UCSC Golden Path with GeneCards custom track
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for A4GALT
- Top Transcription factor binding sites by QIAGEN in the A4GALT gene promoter:
-
- AP-1
- ATF
- COUP
- COUP-TF
- COUP-TF1
- CREB
- HNF-4alpha1
- HNF-4alpha2
- Max1
- NF-kappaB1
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)
- Size:
- 29,178 bases
- Orientation:
- Minus strand
Genomic View for A4GALT Gene
Genes around A4GALT on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q13.2 by HGNC
- 22q13.2 by Entrez Gene
- 22q13.2 by Ensembl
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
Antibody Products
- G Biosciences Immunotag™ A4GALT Antibody
- Creative Diagnostics Anti-A4GALT (aa 91-303) polyclonal antibody
- Creative Biolabs Recombinant Anti-Human A4GALT Antibody
-
Custom Antibody ServicesOriGene Antibodies for A4GALT
- Novus Biologicals Antibodies for A4GALT
-
Abcam antibodies for A4GALT
- Invitrogen Antibodies for A4GALT (AFLGC-A4GALT)
-
Biorbyt antibodies for A4GALT
- Sino Biological 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
- antibodies-online: Show 13 available A4GALT Proteins ranked by validation data
- Compare Top A4GALT Proteins
-
Quality Products:
-
Abcam proteins for A4GALT
Assay Products
- antibodies-online: Show 2 available A4GALT Elisa Kits ranked by validation data
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-
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
- Blocks:
-
- Alpha 1,4-glycosyltransferase conserved region
- InterPro:
- ProtoNet:
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 Function:
- Catalyzes the transfer of galactose from UDP-alpha-D-galactose to lactosylceramide/beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide(d18:1(4E)) to produce globotriaosylceramide/globoside Gb3Cer (d18:1(4E)) (PubMed:10748143). Also able to transfer galactose to galactosylceramide/beta-D-Gal-(1<->1')-Cer (PubMed:10748143). Globoside Gb3Cer is a glycosphingolipid of the globo serie, one of the major types of neutral root structures of glycosphingolipids, that constitute a significant portion of mammalian cell membranes (Probable). Globotriaosylceramide/globoside Gb3Cer in blood and tissue cell membranes is the antigen Pk of blood histogroup P (PubMed:10747952).
- UniProtKB/Swiss-Prot Function:
- (Microbial infection) Globotriaosylceramide is one of the cellular ligands for bacterial verotoxins.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + UDP-alpha-D-galactose = globoside Gb3Cer (d18:1(4E)) + H(+) + UDP; Xref=Rhea:RHEA:11924, ChEBI:CHEBI:15378, ChEBI:CHEBI:17950, ChEBI:CHEBI:18313, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914; EC=2.4.1.228; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:11925; Evidence=. ;.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=beta-D-Gal-(1<->1')-Cer + UDP-alpha-D-galactose = alpha-D-Gal-(1->4)-beta-D-Gal-(1<->1')-Cer + H(+) + UDP; Xref=Rhea:RHEA:60044, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914, ChEBI:CHEBI:143593, ChEBI:CHEBI:143594; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:60045; Evidence=. ;.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=54.5 uM for beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)- ceramide(d18:1(4E)) {ECO:0000269 PubMed:10748143}; KM=132 uM for beta-D-Gal-(1<->1')-Cer {ECO:0000269 PubMed:10748143};
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 Models for A4GALT Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for A4GALT - Select products 50% OFF >
- * A4GALT CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * A4GALT CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for A4GALT
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for A4GALT
- genomics-online: gRNA clones - Search for available A4GALT gRNA products
- Overview of 140 available A4GALT gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR 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
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for A4GALT
- Browse OriGene Inhibitory RNA Products For A4GALT
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for A4GALT
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- Overview of 140 available A4GALT gene related products
Clone Products
- Applied Biological Materials (abm): Clones for A4GALT - Select products 50% OFF >
- * A4GALT as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * A4GALT tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
-
- RC202259
- RG202259
- MR217727
- MR218807
- MG217727
- MG218807
- RR215459
- RC202259L1
- RC202259L1V
- RC202259L2
- RC202259L2V
- RC202259L3
- RC202259L3V
- RC202259L4
- RC202259L4V
- MR217727L3
- MR217727L3V
- MR217727L4
- MR217727L4V
- MR218807L1
- MR218807L1V
- MR218807L2
- MR218807L2V
- MR218807L3
- MR218807L3V
- MR218807L4
- MR218807L4V
- RR215459L3
- RR215459L3V
- RR215459L4
- RR215459L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for A4GALT
- Addgene plasmids for A4GALT
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for A4GALT
Cell Line Products
-
Horizon Cell Lines for A4GALT
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 |
|---|---|
| golgi apparatus | 5 |
| mitochondrion | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
- Mitochondria (1)
| 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 |
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: Glycolipid biosynthesis.
Interacting Proteins for A4GALT Gene
GPS-Prot Interaction Network for A4GALT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001576 | globoside biosynthetic process | 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
- 2 REFSEQ mRNAs :
- 19 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000249005 2019 bps (ENST00000249005.3)
- ENST00000381278 1956 bps (ENST00000381278.4)
- ENST00000401850 2321 bps (ENST00000401850.5)
- ENST00000465765 595 bps (ENST00000465765.2)
- ENST00000483026 546 bps (ENST00000483026.2)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for A4GALT - Select products 50% OFF >
- * A4GALT CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * A4GALT CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for A4GALT
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for A4GALT
- genomics-online: gRNA clones - Search for available A4GALT gRNA products
- Overview of 140 available A4GALT gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for A4GALT
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for A4GALT
- Browse OriGene Inhibitory RNA Products For A4GALT
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for A4GALT
- genomics-online: shRNA clones - Search for available A4GALT shRNA products
- Overview of 140 available A4GALT gene related products
Clone Products
- Applied Biological Materials (abm): Clones for A4GALT - Select products 50% OFF >
- * A4GALT as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * A4GALT tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
-
- RC202259
- RG202259
- MR217727
- MR218807
- MG217727
- MG218807
- RR215459
- RC202259L1
- RC202259L1V
- RC202259L2
- RC202259L2V
- RC202259L3
- RC202259L3V
- RC202259L4
- RC202259L4V
- MR217727L3
- MR217727L3V
- MR217727L4
- MR217727L4V
- MR218807L1
- MR218807L1V
- MR218807L2
- MR218807L2V
- MR218807L3
- MR218807L3V
- MR218807L4
- MR218807L4V
- RR215459L3
- RR215459L3V
- RR215459L4
- RR215459L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for A4GALT
- Addgene plasmids for A4GALT
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for A4GALT
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||
| SP2: | - | - | |||||||||||||
| SP3: | - | - | |||||||||||||
| SP4: | - | ||||||||||||||
| SP5: |
Relevant External Links for A4GALT Gene
- GeneLoc Exon Structure for
- A4GALT
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for A4GALT
SOURCE 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 for available A4GALT Primer products
- Overview of 140 available A4GALT 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 31 30 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | A4GALT 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | A4GALT 31 30 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | A4galt 17 31 30 |
|
||
| rat (Rattus norvegicus) |
Mammalia | A4galt 30 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | A4GALT 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | A4GALT 31 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | A4GALT 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | a4galt 30 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008258 30 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | alpha4GT1 31 30 |
|
ManyToMany | |
| CG17223 32 |
|
|
|||
| alpha4GT2 31 |
|
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)
Evolution for A4GALT Gene
- ENSEMBL:
- Gene Tree for A4GALT (if available)
- TreeFam:
- Gene Tree for A4GALT (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for A4GALT: view image
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 P1PK 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 (PubMed:10993874, PubMed:11896312). Genetic variation in A4GALT is also responsible for the NOR polyagglutination syndrome [MIM:111400]. Polyagglutination is the occurrence of red cell agglutination by virtually all human sera, but not by autologous serum or sera from newborns, creating a risk of complications during transfusions of NOR erythrocytes. It is caused by the unusual Gal(alpha1-4)GalNAc glycolipid epitope (PubMed:22965229).
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for A4GALT Gene
| SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 39436 | Pathogenic: Infantile cortical hyperostosis | 42,693,910(-) | G/A | SYNONYMOUS_VARIANT | |
| rs28940571 | Affects: p phenotype. - | 42,693,200(-) | G/Ap.Pro251Leu | MISSENSE_VARIANT | |
| rs28940572 | Affects: p phenotype. - | 42,693,392(-) | C/Tp.Gly187Asp | MISSENSE_VARIANT | |
| rs387906279 | Affects: p phenotype | 42,693,708(-) | GGAA/G | INFRAME_DELETION | |
| rs387906280 | Affects: p phenotype | 42,692,922(-) | T/TG | FRAMESHIFT_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
- Blood Group Antigen Gene Mutation Database (BGMUT)
- Blood Group System
- Human Gene Mutation Database (HGMD)
- A4GALT
- 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 |
|
|
| interstitial nephritis, karyomegalic |
|
|
| fabry disease |
|
|
| interstitial nephritis |
|
|
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 23 54
- 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 23 54
- 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 23 54
- 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 23 54
- A single point mutation in the gene encoding Gb3/CD77 synthase causes a rare inherited polyagglutination syndrome. (PMID: 22965229) Suchanowska A … Czerwinski M (The Journal of biological chemistry 2012) 3 4 54
ExternalLinks
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Sources for A4GALT Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
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- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) H-invDB
- (47) HORDE
- (48) HUGE
- (49) IMGT
- (50) Leiden
- (51) miRBase
- (52) DME
- (53) OriGene
- (54) PubMed
- (55) R&D Systems
- (56) TGDB
- (57) Tocris
- (58) Abcam
- (59) Novus Biologicals
- (60) ProSpec
- (61) Sino Biological
- (62) GenScript
- (63) Qiagen
- (64) OCA
- (65) Proteopedia
- (66) MOPED
- (67) neXtProt
- (68) Reactome
- (69) GeneGo (Thomson Reuters)
- (70) DISEASES
- (71) SIMAP
- (72) GenomeRNAi
- (73) LifeMap
- (74) miRTarBase
- (75) MalaCards
- (76) Invitrogen
- (77) BitterDB
- (78) ESI-BIO
- (79) RefSeq
- (80) BioSystems
- (81) MaxQB
- (82) IUPHAR
- (83) BioGPS
- (84) Illumina
- (85) COMPARTMENTS
- (86) HOMER
- (87) PaxDb
- (88) ApexBio
- (89) Addgene
- (90) antibodies-online
- (91) CYP
- (92) NONCODE
- (93) TreeFam
- (94) PathCards
- (95) GeneReviews
- (96) GeneTex
- (97) Taconic Biosciences
- (98) GTEx
- (99) ProteomicsDB
- (100) SCBT
- (101) DGIdb
- (102) ClinicalTrials
- (103) RVIS
- (104) SIGNOR
- (105) diseasecard
- (106) NIH Rare Diseases
- (107) Orphanet
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- (110) Disease Ontology
- (111) Genetics Home Reference
- (112) MeSH
- (113) MedlinePlus
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- (116) NCBI Bookshelf
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- (123) ENCODE
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- (125) Horizon
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- (142) genomics-online
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- (150) RNACentral
- (151) LncRNADisease
- (152) LOVD
- (153) miR2Disease
- (154) DiseaseEnhancer
- (155) Boster Bio
- (156) Biorbyt
- (157) Biocompare
- (158) Mastermind
- (159) CTD^2 Dashboard
- (160) CraniofacialAtlas
- (161) GeneImprint
- (162) Synthego
- (163) Bio Basic
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- (167) LncBook
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