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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 found for this gene. [provided by RefSeq, Dec 2015]
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 Glycosphingolipid biosynthesis - lacto and neolacto series 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.
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:0016758 | transferase activity, transferring hexosyl groups | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Globo Sphingolipid Metabolism | ||
2 | Glycosphingolipid biosynthesis - lacto and neolacto series | ||
3 | Metabolism |
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
3-O-Sulfogalactosylceramide (d18:1/12:0) |
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852100-88-0 |
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3-O-Sulfogalactosylceramide (d18:1/14:0) |
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3-O-Sulfogalactosylceramide (d18:1/16:0) |
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862509-48-6 |
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3-O-Sulfogalactosylceramide (d18:1/18:0) |
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244215-65-4 |
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3-O-Sulfogalactosylceramide (d18:1/18:1(9Z)) |
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ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||
SP2: | - | - | |||||||||||||
SP3: | - | - | |||||||||||||
SP4: | - | ||||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | A4GALT 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | A4GALT 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | A4GALT 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | A4galt 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | A4galt 30 |
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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 |
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African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008258 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | alpha4GT1 30 31 |
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ManyToMany | |
CG17223 32 |
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alpha4GT2 31 |
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ManyToMany |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
718696 | Benign: not provided | 42,693,585(-) | A/G | MISSENSE_VARIANT | |
777729 | Benign: not provided | 42,693,283(-) | G/A | SYNONYMOUS_VARIANT | |
778957 | Benign: not provided | 42,693,652(-) | C/G | SYNONYMOUS_VARIANT | |
786384 | Benign: not provided | 42,693,464(-) | T/C | MISSENSE_VARIANT | |
rs28940571 | Affects: p phenotype. - | 42,693,200(-) | G/Ap.Pro251Leu | 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 |
Disorder | Aliases | PubMed IDs |
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blood group, p1pk system |
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caffey disease |
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interstitial nephritis, karyomegalic |
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fabry disease |
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blood group incompatibility |
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