Human Gene A4GALT (ENST00000249005.3) from GENCODE V44
Description: Homo sapiens alpha 1,4-galactosyltransferase (P blood group) (A4GALT), transcript variant 2, mRNA. (from RefSeq NM_001318038) RefSeq Summary (NM_017436): 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]. Gencode Transcript: ENST00000249005.3 Gencode Gene: ENSG00000128274.17 Transcript (Including UTRs) Position: hg38 chr22:42,692,122-42,695,633 Size: 3,512 Total Exon Count: 2 Strand: - Coding Region Position: hg38 chr22:42,692,890-42,693,951 Size: 1,062 Coding Exon Count: 1
ID:A4GAT_HUMAN DESCRIPTION: RecName: Full=Lactosylceramide 4-alpha-galactosyltransferase; EC=2.4.1.228; AltName: Full=Alpha-1,4-N-acetylglucosaminyltransferase; AltName: Full=Alpha-1,4-galactosyltransferase; AltName: Full=Alpha4Gal-T1; AltName: Full=CD77 synthase; AltName: Full=Globotriaosylceramide synthase; Short=Gb3 synthase; AltName: Full=P1/Pk synthase; AltName: Full=UDP-galactose:beta-D-galactosyl-beta1-R 4-alpha-D-galactosyltransferase; 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. CATALYTIC ACTIVITY: 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. PATHWAY: Protein modification; protein glycosylation. SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein (Probable). TISSUE SPECIFICITY: Ubiquitous. Highly expressed in kidney, heart, spleen, liver, testis and placenta. DOMAIN: The conserved DXD motif is involved in enzyme activity (By similarity). POLYMORPHISM: 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. SIMILARITY: Belongs to the glycosyltransferase 32 family. WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/a4galt/"; WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=Lactosylceramide 4-alpha-galactosyltransferase; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_428";
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.
Pfam Domains: PF04572 - Alpha 1,4-glycosyltransferase conserved region PF04488 - Glycosyltransferase sugar-binding region containing DXD motif
ModBase Predicted Comparative 3D Structure on Q9NPC4
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.