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Protein

Lactosylceramide 4-alpha-galactosyltransferase

Gene

A4GALT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

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 activityi

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.

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

GO - Molecular functioni

GO - Biological processi

  • globoside biosynthetic process Source: Ensembl
  • glycosphingolipid biosynthetic process Source: UniProtKB
  • plasma membrane organization Source: MGI
  • protein glycosylation Source: UniProtKB-UniPathway

Keywordsi

Molecular functionGlycosyltransferase, Transferase
Biological processLipid biosynthesis, Lipid metabolism

Enzyme and pathway databases

BioCyciMetaCyc:HS05171-MONOMER
BRENDAi2.4.1.228 2681
UniPathwayiUPA00378

Protein family/group databases

CAZyiGT32 Glycosyltransferase Family 32

Chemistry databases

SwissLipidsiSLP:000000760

Names & Taxonomyi

Protein namesi
Recommended name:
Lactosylceramide 4-alpha-galactosyltransferase (EC:2.4.1.228)
Alternative name(s):
Alpha-1,4-N-acetylglucosaminyltransferase
Alpha-1,4-galactosyltransferase
Alpha4Gal-T1
CD77 synthase
Globotriaosylceramide synthase
Short name:
Gb3 synthase
P1/Pk synthase
UDP-galactose:beta-D-galactosyl-beta1-R 4-alpha-D-galactosyltransferase
Gene namesi
Name:A4GALT
Synonyms:A14GALT, A4GALT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000128274.15
HGNCiHGNC:18149 A4GALT
MIMi607922 gene
neXtProtiNX_Q9NPC4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 22CytoplasmicSequence analysisAdd BLAST22
Transmembranei23 – 43Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini44 – 353LumenalSequence analysisAdd BLAST310

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi53947
MalaCardsiA4GALT
MIMi111400 phenotype
OpenTargetsiENSG00000128274
PharmGKBiPA24359

Polymorphism and mutation databases

BioMutaiA4GALT
DMDMi25452796

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000805781 – 353Lactosylceramide 4-alpha-galactosyltransferaseAdd BLAST353

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi121N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi203N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9NPC4
PeptideAtlasiQ9NPC4
PRIDEiQ9NPC4

PTM databases

iPTMnetiQ9NPC4
PhosphoSitePlusiQ9NPC4

Expressioni

Tissue specificityi

Ubiquitous. Highly expressed in kidney, heart, spleen, liver, testis and placenta.

Gene expression databases

BgeeiENSG00000128274
CleanExiHS_A4GALT
ExpressionAtlasiQ9NPC4 baseline and differential
GenevisibleiQ9NPC4 HS

Organism-specific databases

HPAiHPA001141
HPA076542

Interactioni

Protein-protein interaction databases

BioGridi119825, 7 interactors
IntActiQ9NPC4, 2 interactors
MINTiQ9NPC4
STRINGi9606.ENSP00000249005

Structurei

3D structure databases

ProteinModelPortaliQ9NPC4
SMRiQ9NPC4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi192 – 194DXD motifBy similarity3

Domaini

The conserved DXD motif is involved in enzyme activity.By similarity

Sequence similaritiesi

Belongs to the glycosyltransferase 32 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1928 Eukaryota
ENOG4111PD8 LUCA
GeneTreeiENSGT00510000047981
HOVERGENiHBG050427
InParanoidiQ9NPC4
KOiK01988
OMAiLHARYCP
OrthoDBiEOG091G08S2
PhylomeDBiQ9NPC4
TreeFamiTF324053

Family and domain databases

InterProiView protein in InterPro
IPR007652 A1-4-GlycosylTfrase_dom
IPR007577 GlycoTrfase_DXD_sugar-bd_CS
IPR029044 Nucleotide-diphossugar_trans
PfamiView protein in Pfam
PF04572 Gb3_synth, 1 hit
PF04488 Gly_transf_sug, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit

Sequencei

Sequence statusi: Complete.

Q9NPC4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSKPPDLLLR LLRGAPRQRV CTLFIIGFKF TFFVSIMIYW HVVGEPKEKG
60 70 80 90 100
QLYNLPAEIP CPTLTPPTPP SHGPTPGNIF FLETSDRTNP NFLFMCSVES
110 120 130 140 150
AARTHPESHV LVLMKGLPGG NASLPRHLGI SLLSCFPNVQ MLPLDLRELF
160 170 180 190 200
RDTPLADWYA AVQGRWEPYL LPVLSDASRI ALMWKFGGIY LDTDFIVLKN
210 220 230 240 250
LRNLTNVLGT QSRYVLNGAF LAFERRHEFM ALCMRDFVDH YNGWIWGHQG
260 270 280 290 300
PQLLTRVFKK WCSIRSLAES RACRGVTTLP PEAFYPIPWQ DWKKYFEDIN
310 320 330 340 350
PEELPRLLSA TYAVHVWNKK SQGTRFEATS RALLAQLHAR YCPTTHEAMK

MYL
Length:353
Mass (Da):40,499
Last modified:October 1, 2000 - v1
Checksum:i8755865BDA5DA205
GO

Polymorphismi

Genetic variation in A4GALT is responsible for the P system blood group phenotypes [MIMi: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.2 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01429637M → V3 PublicationsCorresponds to variant dbSNP:rs11541159Ensembl.1
Natural variantiVAR_01750780Missing in p individuals. 1 Publication1
Natural variantiVAR_022320163Q → R1 PublicationCorresponds to variant dbSNP:rs28915383Ensembl.1
Natural variantiVAR_014297183M → K in p individuals; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs74315453Ensembl.1
Natural variantiVAR_017508187G → D in p individuals; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs28940572Ensembl.1
Natural variantiVAR_017509251P → L in p individuals; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs28940571Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB037883 mRNA Translation: BAA95915.1
AJ245581 mRNA Translation: CAB93532.1
AB041418 Genomic DNA Translation: BAA94503.1
AY941797 Genomic DNA Translation: AAX20109.1
AK312927 mRNA Translation: BAG35771.1
Z82176 Genomic DNA No translation available.
CH471138 Genomic DNA Translation: EAW73274.1
BC017068 mRNA Translation: AAH17068.1
CCDSiCCDS14041.1
RefSeqiNP_001304967.1, NM_001318038.1
NP_059132.1, NM_017436.5
XP_005261701.1, XM_005261644.2
XP_005261703.1, XM_005261646.4
XP_005261704.1, XM_005261647.2
XP_005261705.1, XM_005261648.3
XP_006724328.1, XM_006724265.3
XP_006724329.1, XM_006724266.3
XP_011528535.1, XM_011530233.2
XP_016884320.1, XM_017028831.1
UniGeneiHs.105956

Genome annotation databases

EnsembliENST00000249005; ENSP00000249005; ENSG00000128274
ENST00000381278; ENSP00000370678; ENSG00000128274
ENST00000401850; ENSP00000384794; ENSG00000128274
GeneIDi53947
KEGGihsa:53947
UCSCiuc062ewk.1 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiA4GAT_HUMAN
AccessioniPrimary (citable) accession number: Q9NPC4
Secondary accession number(s): B2R7C4, Q9P1X5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 25, 2002
Last sequence update: October 1, 2000
Last modified: March 28, 2018
This is version 151 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health