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Protein

Lactosylceramide 4-alpha-galactosyltransferase

Gene

A4GALT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Biological processi

Lipid biosynthesis, Lipid metabolism

Enzyme and pathway databases

BioCyciZFISH: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

HGNCiHGNC:18149. A4GALT.

Subcellular locationi

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

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • integral component of Golgi membrane Source: UniProtKB
  • membrane Source: MGI
Complete GO annotation...

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...)Sequence analysis1
Glycosylationi203N-linked (GlcNAc...)Sequence 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.

Interactioni

Protein-protein interaction databases

BioGridi119825. 7 interactors.
IntActiQ9NPC4. 2 interactors.
MINTiMINT-5210812.
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

InterProiIPR007652. A1-4-GlycosylTfrase_dom.
IPR007577. GlycoTrfase_DXD_sugar-bd_CS.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamiPF04572. Gb3_synth. 1 hit.
PF04488. Gly_transf_sug. 1 hit.
[Graphical view]
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 → V.3 PublicationsCorresponds to variant rs11541159dbSNPEnsembl.1
Natural variantiVAR_01750780Missing in p individuals. 1 Publication1
Natural variantiVAR_022320163Q → R.1 PublicationCorresponds to variant rs28915383dbSNPEnsembl.1
Natural variantiVAR_014297183M → K in p individuals; complete loss of activity. 2 PublicationsCorresponds to variant rs74315453dbSNPEnsembl.1
Natural variantiVAR_017508187G → D in p individuals; partial loss of activity. 1 PublicationCorresponds to variant rs28940572dbSNPEnsembl.1
Natural variantiVAR_017509251P → L in p individuals; complete loss of activity. 1 PublicationCorresponds to variant rs28940571dbSNPEnsembl.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. Translation: CAI18757.1.
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

Cross-referencesi

Web resourcesi

SeattleSNPs
Functional Glycomics Gateway - GTase

Lactosylceramide 4-alpha-galactosyltransferase

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. Translation: CAI18757.1.
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.

3D structure databases

ProteinModelPortaliQ9NPC4.
SMRiQ9NPC4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119825. 7 interactors.
IntActiQ9NPC4. 2 interactors.
MINTiMINT-5210812.
STRINGi9606.ENSP00000249005.

Chemistry databases

SwissLipidsiSLP:000000760.

Protein family/group databases

CAZyiGT32. Glycosyltransferase Family 32.

PTM databases

iPTMnetiQ9NPC4.
PhosphoSitePlusiQ9NPC4.

Polymorphism and mutation databases

BioMutaiA4GALT.
DMDMi25452796.

Proteomic databases

PaxDbiQ9NPC4.
PeptideAtlasiQ9NPC4.
PRIDEiQ9NPC4.

Protocols and materials databases

DNASUi53947.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi53947.
DisGeNETi53947.
GeneCardsiA4GALT.
HGNCiHGNC:18149. A4GALT.
MalaCardsiA4GALT.
MIMi111400. phenotype.
607922. gene.
neXtProtiNX_Q9NPC4.
OpenTargetsiENSG00000128274.
PharmGKBiPA24359.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

UniPathwayiUPA00378.
BioCyciZFISH:HS05171-MONOMER.
BRENDAi2.4.1.228. 2681.

Miscellaneous databases

GeneWikiiA4GALT.
GenomeRNAii53947.
PROiQ9NPC4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000128274.
CleanExiHS_A4GALT.
ExpressionAtlasiQ9NPC4. baseline and differential.
GenevisibleiQ9NPC4. HS.

Family and domain databases

InterProiIPR007652. A1-4-GlycosylTfrase_dom.
IPR007577. GlycoTrfase_DXD_sugar-bd_CS.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamiPF04572. Gb3_synth. 1 hit.
PF04488. Gly_transf_sug. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiA4GAT_HUMAN
AccessioniPrimary (citable) accession number: Q9NPC4
Secondary accession number(s): B2R7C4, Q9P1X5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 25, 2002
Last sequence update: October 1, 2000
Last modified: November 30, 2016
This is version 142 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.