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Entry version 166 (16 Oct 2019)
Sequence version 1 (01 Oct 2000)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the transfer of galactose from UDP-alpha-D-galactose to lactosylceramide/beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide(d18:1(4E)) to produce globotriaosylceramide/globoside Gb3Cer (d18:1(4E)) (PubMed:10748143). Also able to transfer galactose to galactosylceramide/beta-D-Gal-(1<->1')-Cer (PubMed:10748143). Globoside Gb3Cer is a glycosphingolipid of the globo serie, one of the major types of neutral root structures of glycosphingolipids, that constitute a significant portion of mammalian cell membranes (Probable). Globotriaosylceramide/globoside Gb3Cer in blood and tissue cell membranes is the antigen Pk of blood histogroup P (PubMed:10747952).1 Publication2 Publications
(Microbial infection) Globotriaosylceramide is one of the cellular ligands for bacterial verotoxins.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=54.5 µM for beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide(d18:1(4E))1 Publication
  2. KM=132 µM for beta-D-Gal-(1<->1')-Cer1 Publication

    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: Glycolipid biosynthesis

    This protein is involved in Glycolipid biosynthesis.1 Publication
    View all proteins of this organism that are known to be involved in Glycolipid biosynthesis.

    <p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

    GO - Biological processi

    <p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

    Molecular functionGlycosyltransferase, Transferase
    Biological processLipid biosynthesis, Lipid metabolism

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...
    BioCyci
    MetaCyc:HS05171-MONOMER

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    2.4.1.228 2681

    Protein family/group databases

    Carbohydrate-Active enZymes

    More...
    CAZyi
    GT32 Glycosyltransferase Family 32

    Chemistry databases

    SwissLipids knowledge resource for lipid biology

    More...
    SwissLipidsi
    SLP:000000760

    <p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
    Recommended name:
    Lactosylceramide 4-alpha-galactosyltransferase (EC:2.4.1.2281 Publication)
    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
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
    Name:A4GALT
    Synonyms:A14GALT, A4GALT1
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
    • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

    Organism-specific databases

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:18149 A4GALT

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    607922 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q9NPC4

    <p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 22CytoplasmicSequence analysisAdd BLAST22
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei23 – 43Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
    Topological domaini44 – 353LumenalSequence analysisAdd BLAST310

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    <p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    53947

    MalaCards human disease database

    More...
    MalaCardsi
    A4GALT
    MIMi111400 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000128274

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA24359

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    Q9NPC4

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    A4GALT

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    25452796

    <p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000805781 – 353Lactosylceramide 4-alpha-galactosyltransferaseAdd BLAST353

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi121N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi203N-linked (GlcNAc...) asparagineSequence analysis1

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q9NPC4

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q9NPC4

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    Q9NPC4

    PaxDb, a database of protein abundance averages across all three domains of life

    More...
    PaxDbi
    Q9NPC4

    PeptideAtlas

    More...
    PeptideAtlasi
    Q9NPC4

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q9NPC4

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    81966

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q9NPC4

    Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

    More...
    PhosphoSitePlusi
    Q9NPC4

    <p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

    <p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000128274 Expressed in 146 organ(s), highest expression level in heart left ventricle

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q9NPC4 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q9NPC4 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA001141
    HPA076542

    <p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    119825, 7 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    Q9NPC4, 6 interactors

    Molecular INTeraction database

    More...
    MINTi
    Q9NPC4

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000384794

    <p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

    3D structure databases

    SWISS-MODEL Repository - a database of annotated 3D protein structure models

    More...
    SMRi
    Q9NPC4

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    <p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

    Motif

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi192 – 194DXD motifBy similarity3

    <p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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

    <p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

    Belongs to the glycosyltransferase 32 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG1928 Eukaryota
    ENOG4111PD8 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00510000047981

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q9NPC4

    KEGG Orthology (KO)

    More...
    KOi
    K01988

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    HARYCPT

    Database of Orthologous Groups

    More...
    OrthoDBi
    1082380at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q9NPC4

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF324053

    Family and domain databases

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR007652 A1-4-GlycosylTfrase_dom
    IPR007577 GlycoTrfase_DXD_sugar-bd_CS
    IPR029044 Nucleotide-diphossugar_trans

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF04572 Gb3_synth, 1 hit
    PF04488 Gly_transf_sug, 1 hit

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF53448 SSF53448, 1 hit

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
    <p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8755865BDA5DA205
    GO

    <p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

    Genetic variation in A4GALT is responsible for the P1PK 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 (PubMed:10993874, PubMed:11896312). Genetic variation in A4GALT is also responsible for the NOR polyagglutination syndrome [MIMi:111400]. Polyagglutination is the occurrence of red cell agglutination by virtually all human sera, but not by autologous serum or sera from newborns, creating a risk of complications during transfusions of NOR erythrocytes. It is caused by the unusual Gal(alpha1-4)GalNAc glycolipid epitope (PubMed:22965229).3 Publications

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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:rs74315453EnsemblClinVar.1
    Natural variantiVAR_017508187G → D in p individuals; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs28940572EnsemblClinVar.1
    Natural variantiVAR_080910211Q → E in individuals with NOR polyagglutination syndrome; causes the synthesis of both Gal(alpha1-4)Gal and Gal(alpha1-4)GalNAc moieties. 1 PublicationCorresponds to variant dbSNP:rs397514502EnsemblClinVar.1
    Natural variantiVAR_017509251P → L in p individuals; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs28940571EnsemblClinVar.1

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...
    EMBLi

    GenBank nucleotide sequence database

    More...
    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...
    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

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS14041.1

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_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

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000249005; ENSP00000249005; ENSG00000128274
    ENST00000381278; ENSP00000370678; ENSG00000128274
    ENST00000401850; ENSP00000384794; ENSG00000128274
    ENST00000642412; ENSP00000494127; ENSG00000128274

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    53947

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:53947

    UCSC genome browser

    More...
    UCSCi
    uc062ewk.1 human

    Keywords - Coding sequence diversityi

    Polymorphism

    <p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

    <p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

    <p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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 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

    3D structure databases

    SMRiQ9NPC4
    ModBaseiSearch...

    Protein-protein interaction databases

    BioGridi119825, 7 interactors
    IntActiQ9NPC4, 6 interactors
    MINTiQ9NPC4
    STRINGi9606.ENSP00000384794

    Chemistry databases

    SwissLipidsiSLP:000000760

    Protein family/group databases

    CAZyiGT32 Glycosyltransferase Family 32

    PTM databases

    iPTMnetiQ9NPC4
    PhosphoSitePlusiQ9NPC4

    Polymorphism and mutation databases

    BioMutaiA4GALT
    DMDMi25452796

    Proteomic databases

    EPDiQ9NPC4
    jPOSTiQ9NPC4
    MassIVEiQ9NPC4
    PaxDbiQ9NPC4
    PeptideAtlasiQ9NPC4
    PRIDEiQ9NPC4
    ProteomicsDBi81966

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    53947

    Genome annotation databases

    EnsembliENST00000249005; ENSP00000249005; ENSG00000128274
    ENST00000381278; ENSP00000370678; ENSG00000128274
    ENST00000401850; ENSP00000384794; ENSG00000128274
    ENST00000642412; ENSP00000494127; ENSG00000128274
    GeneIDi53947
    KEGGihsa:53947
    UCSCiuc062ewk.1 human

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    53947
    DisGeNETi53947

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    A4GALT
    HGNCiHGNC:18149 A4GALT
    HPAiHPA001141
    HPA076542
    MalaCardsiA4GALT
    MIMi111400 phenotype
    607922 gene
    neXtProtiNX_Q9NPC4
    OpenTargetsiENSG00000128274
    PharmGKBiPA24359

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG1928 Eukaryota
    ENOG4111PD8 LUCA
    GeneTreeiENSGT00510000047981
    InParanoidiQ9NPC4
    KOiK01988
    OMAiHARYCPT
    OrthoDBi1082380at2759
    PhylomeDBiQ9NPC4
    TreeFamiTF324053

    Enzyme and pathway databases

    BioCyciMetaCyc:HS05171-MONOMER
    BRENDAi2.4.1.228 2681

    Miscellaneous databases

    ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

    More...
    ChiTaRSi
    A4GALT human

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    A4GALT

    Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

    More...
    GenomeRNAii
    53947
    PharosiQ9NPC4

    Protein Ontology

    More...
    PROi
    PR:Q9NPC4

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000128274 Expressed in 146 organ(s), highest expression level in heart left ventricle
    ExpressionAtlasiQ9NPC4 baseline and differential
    GenevisibleiQ9NPC4 HS

    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

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    Search...

    <p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

    <p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiA4GAT_HUMAN
    <p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NPC4
    Secondary accession number(s): B2R7C4, Q9P1X5
    <p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 25, 2002
    Last sequence update: October 1, 2000
    Last modified: October 16, 2019
    This is version 166 of the entry and version 1 of the sequence. See complete history.
    <p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

    <p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. SIMILARITY comments
      Index of protein domains and families
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    UniProt is an ELIXIR core data resource
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