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 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:42,692,122-42,695,633)mRNA (may differ from genome)Protein (353 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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";

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: A4GALT
Diseases sorted by gene-association score: nor polyagglutination syndrome* (500), caffey disease* (283), fabry disease (12)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 32.46 RPKM in Nerve - Tibial
Total median expression: 591.37 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -75.10189-0.397 Picture PostScript Text
3' UTR -351.20768-0.457 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007652 - A1-4-GlycosylTfrase_dom
IPR007577 - GlycoTrfase_DXD_sugar-bd_CS

Pfam Domains:
PF04572 - Alpha 1,4-glycosyltransferase conserved region
PF04488 - Glycosyltransferase sugar-binding region containing DXD motif

ModBase Predicted Comparative 3D Structure on Q9NPC4
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-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008378 galactosyltransferase activity
GO:0015643 toxic substance binding
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0050512 lactosylceramide 4-alpha-galactosyltransferase activity

Biological Process:
GO:0001576 globoside biosynthetic process
GO:0006486 protein glycosylation
GO:0006629 lipid metabolic process
GO:0006688 glycosphingolipid biosynthetic process
GO:0007009 plasma membrane organization

Cellular Component:
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030173 integral component of Golgi membrane


-  Descriptions from all associated GenBank mRNAs
  AK074388 - Homo sapiens cDNA FLJ23808 fis, clone HRC05542, highly similar to Homo sapiens gene for alpha-1, 4-N-acetylglucosaminyltransferase/alpha-1,4-galactosyltransferase.
BC055286 - Homo sapiens alpha 1,4-galactosyltransferase, mRNA (cDNA clone MGC:61705 IMAGE:6161307), complete cds.
AB037883 - Homo sapiens mRNA for Gb3/CD77 synthase, complete cds.
GU902275 - Homo sapiens alpha 1,4-galactosyltransferase transcript variant III, alternative a (A4GALT) mRNA, partial sequence, alternatively spliced.
GU902276 - Homo sapiens alpha 1,4-galactosyltransferase transcript variant III, alternative b (A4GALT) mRNA, partial sequence, alternatively spliced.
BC017068 - Homo sapiens alpha 1,4-galactosyltransferase, mRNA (cDNA clone MGC:9631 IMAGE:3913851), complete cds.
GU902277 - Homo sapiens alpha 1,4-galactosyltransferase transcript variant II (A4GALT) mRNA, partial sequence, alternatively spliced.
LF385063 - JP 2014500723-A/192566: Polycomb-Associated Non-Coding RNAs.
MA620640 - JP 2018138019-A/192566: Polycomb-Associated Non-Coding RNAs.
JD341718 - Sequence 322742 from Patent EP1572962.
JD223178 - Sequence 204202 from Patent EP1572962.
JD519324 - Sequence 500348 from Patent EP1572962.
JD122589 - Sequence 103613 from Patent EP1572962.
JD335975 - Sequence 316999 from Patent EP1572962.
JD474738 - Sequence 455762 from Patent EP1572962.
JD102847 - Sequence 83871 from Patent EP1572962.
JD181176 - Sequence 162200 from Patent EP1572962.
JD486874 - Sequence 467898 from Patent EP1572962.
JD362218 - Sequence 343242 from Patent EP1572962.
JD550605 - Sequence 531629 from Patent EP1572962.
JD205059 - Sequence 186083 from Patent EP1572962.
JD469789 - Sequence 450813 from Patent EP1572962.
JD449964 - Sequence 430988 from Patent EP1572962.
JD459197 - Sequence 440221 from Patent EP1572962.
JD222224 - Sequence 203248 from Patent EP1572962.
JD467368 - Sequence 448392 from Patent EP1572962.
JD068646 - Sequence 49670 from Patent EP1572962.
JD408670 - Sequence 389694 from Patent EP1572962.
JD056399 - Sequence 37423 from Patent EP1572962.
JD192045 - Sequence 173069 from Patent EP1572962.
JD473230 - Sequence 454254 from Patent EP1572962.
JD125925 - Sequence 106949 from Patent EP1572962.
AJ245581 - Homo sapiens mRNA for alpha-4-galactosyltransferase.
AK312927 - Homo sapiens cDNA, FLJ93377, Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.
KJ894005 - Synthetic construct Homo sapiens clone ccsbBroadEn_03399 A4GALT gene, encodes complete protein.
KR709395 - Synthetic construct Homo sapiens clone CCSBHm_00001850 A4GALT (A4GALT) mRNA, encodes complete protein.
KR709396 - Synthetic construct Homo sapiens clone CCSBHm_00001852 A4GALT (A4GALT) mRNA, encodes complete protein.
KR709397 - Synthetic construct Homo sapiens clone CCSBHm_00001854 A4GALT (A4GALT) mRNA, encodes complete protein.
KR709398 - Synthetic construct Homo sapiens clone CCSBHm_00001856 A4GALT (A4GALT) mRNA, encodes complete protein.
DQ891619 - Synthetic construct clone IMAGE:100004249; FLH178689.01X; RZPDo839F12128D alpha 1,4-galactosyltransferase (globotriaosylceramide synthase) (A4GALT) gene, encodes complete protein.
DQ894811 - Synthetic construct Homo sapiens clone IMAGE:100009271; FLH178685.01L; RZPDo839F12127D alpha 1,4-galactosyltransferase (globotriaosylceramide synthase) (A4GALT) gene, encodes complete protein.
KU178649 - Homo sapiens alpha 14-galactosyltransferase isoform 1 (A4GALT) mRNA, partial cds.
KU178650 - Homo sapiens alpha 14-galactosyltransferase isoform 2 (A4GALT) mRNA, partial cds, alternatively spliced.
CU677819 - Synthetic construct Homo sapiens gateway clone IMAGE:100017075 5' read A4GALT mRNA.
AB590407 - Synthetic construct DNA, clone: pFN21AE2166, Homo sapiens A4GALT gene for alpha 1,4-galactosyltransferase, without stop codon, in Flexi system.
LF337476 - JP 2014500723-A/144979: Polycomb-Associated Non-Coding RNAs.
MA573053 - JP 2018138019-A/144979: Polycomb-Associated Non-Coding RNAs.
LF337477 - JP 2014500723-A/144980: Polycomb-Associated Non-Coding RNAs.
MA573054 - JP 2018138019-A/144980: Polycomb-Associated Non-Coding RNAs.
LF337478 - JP 2014500723-A/144981: Polycomb-Associated Non-Coding RNAs.
MA573055 - JP 2018138019-A/144981: Polycomb-Associated Non-Coding RNAs.
JD488294 - Sequence 469318 from Patent EP1572962.
JD416408 - Sequence 397432 from Patent EP1572962.
JD442688 - Sequence 423712 from Patent EP1572962.
JD476429 - Sequence 457453 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00603 - Glycosphingolipid biosynthesis - globo series
hsa01100 - Metabolic pathways

-  Other Names for This Gene
  Alternate Gene Symbols: A14GALT, A4GALT1, A4GAT_HUMAN, B2R7C4, ENST00000249005.1, ENST00000249005.2, NM_001318038, Q9NPC4, Q9P1X5, uc062ewl.1, uc062ewl.2
UCSC ID: ENST00000249005.3
RefSeq Accession: NM_017436
Protein: Q9NPC4 (aka A4GAT_HUMAN or A4GT_HUMAN)
CCDS: CCDS14041.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.