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Entry version 182 (17 Jun 2020)
Sequence version 2 (01 Nov 1995)
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Protein

Beta-1,4 N-acetylgalactosaminyltransferase 1

Gene

B4GALNT1

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

Involved in the biosynthesis of gangliosides GM2, GD2, GT2 and GA2 from GM3, GD3, GT3 and GA3, respectively.3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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=500 µM for GM31 Publication
  2. KM=40 µM for lactosylceramide1 Publication

    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: Sphingolipid metabolism

    This protein is involved in Sphingolipid metabolism.3 Publications
    View all proteins of this organism that are known to be involved in Sphingolipid metabolism.

    <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 metabolism, Sphingolipid metabolism

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...
    BioCyci
    MetaCyc:HS06011-MONOMER

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    2.4.1.92 2681

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-1660662 Glycosphingolipid metabolism

    Protein family/group databases

    Carbohydrate-Active enZymes

    More...
    CAZyi
    GT12 Glycosyltransferase Family 12

    Chemistry databases

    SwissLipids knowledge resource for lipid biology

    More...
    SwissLipidsi
    SLP:000000771
    SLP:000001406

    <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%5Fand%5Ftaxonomy%5Fsection">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:
    Beta-1,4 N-acetylgalactosaminyltransferase 1Curated (EC:2.4.1.923 Publications)
    Alternative name(s):
    (N-acetylneuraminyl)-galactosylglucosylceramide
    GM2/GD2 synthase
    GalNAc-T
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:B4GALNT1Imported
    Synonyms:GALGT, SIAT2
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 12

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000135454.13

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:4117 B4GALNT1

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    601873 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q00973

    <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%5Flocation%5Fsection">'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 – 7CytoplasmicSequence analysis7
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei8 – 25Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST18
    Topological domaini26 – 533LumenalSequence analysisAdd BLAST508

    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

    <p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

    Spastic paraplegia 26, autosomal recessive (SPG26)1 Publication
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG26 is a complicated form characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb involvement. Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive.
    Related information in OMIM
    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_070235300R → C in SPG26. 1 PublicationCorresponds to variant dbSNP:rs756710480Ensembl.1
    Natural variantiVAR_070236433D → A in SPG26. 1 PublicationCorresponds to variant dbSNP:rs879255242EnsemblClinVar.1

    Keywords - Diseasei

    Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    2583

    MalaCards human disease database

    More...
    MalaCardsi
    B4GALNT1
    MIMi609195 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000135454

    Orphanet; a database dedicated to information on rare diseases and orphan drugs

    More...
    Orphaneti
    101006 Autosomal recessive spastic paraplegia type 26

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA28532

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    Q00973 Tbio

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    B4GALNT1

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    1168736

    <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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000591001 – 533Beta-1,4 N-acetylgalactosaminyltransferase 1Add BLAST533

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi79N-linked (GlcNAc...) asparagineSequence analysis1
    <p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi80Interchain (with C-412)1 Publication
    Disulfide bondi82Interchain (with C-529)1 Publication
    Glycosylationi179N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi274N-linked (GlcNAc...) asparagineSequence analysis1
    Disulfide bondi412Interchain (with C-80)1 Publication
    Disulfide bondi429 ↔ 4761 Publication
    Disulfide bondi529Interchain (with C-82)1 Publication

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q00973

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    Q00973

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q00973

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

    More...
    PaxDbi
    Q00973

    PeptideAtlas

    More...
    PeptideAtlasi
    Q00973

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q00973

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    3917
    57885 [Q00973-1]
    72129

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q00973

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

    More...
    PhosphoSitePlusi
    Q00973

    SwissPalm database of S-palmitoylation events

    More...
    SwissPalmi
    Q00973

    <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

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000135454 Expressed in right hemisphere of cerebellum and 109 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q00973 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q00973 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    ENSG00000135454 Tissue enhanced (brain)

    <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

    <p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Homodimer; disulfide-linked.

    1 Publication

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...
    BioGRIDi
    108856, 9 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    Q00973, 5 interactors

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000341562

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...
    RNActi
    Q00973 protein

    <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

    <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 2 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    ENOG410IF61 Eukaryota
    ENOG4111N56 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00390000006679

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    CLU_036051_0_0_1

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q00973

    KEGG Orthology (KO)

    More...
    KOi
    K00725

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    RRFYPTI

    Database of Orthologous Groups

    More...
    OrthoDBi
    363090at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q00973

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF332297

    Family and domain databases

    Gene3D Structural and Functional Annotation of Protein Families

    More...
    Gene3Di
    3.90.550.10, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR001173 Glyco_trans_2-like
    IPR011143 GM2_synthase
    IPR029044 Nucleotide-diphossugar_trans

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF00535 Glycos_transf_2, 1 hit

    PIRSF; a whole-protein classification database

    More...
    PIRSFi
    PIRSF000474 GM2_GD2_synthase, 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%5Flength">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>Sequences (3+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

    This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q00973-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MWLGRRALCA LVLLLACASL GLLYASTRDA PGLRLPLAPW APPQSPRRPE
    60 70 80 90 100
    LPDLAPEPRY AHIPVRIKEQ VVGLLAWNNC SCESSGGGLP LPFQKQVRAI
    110 120 130 140 150
    DLTKAFDPAE LRAASATREQ EFQAFLSRSQ SPADQLLIAP ANSPLQYPLQ
    160 170 180 190 200
    GVEVQPLRSI LVPGLSLQAA SGQEVYQVNL TASLGTWDVA GEVTGVTLTG
    210 220 230 240 250
    EGQADLTLVS PGLDQLNRQL QLVTYSSRSY QTNTADTVRF STEGHEAAFT
    260 270 280 290 300
    IRIRHPPNPR LYPPGSLPQG AQYNISALVT IATKTFLRYD RLRALITSIR
    310 320 330 340 350
    RFYPTVTVVI ADDSDKPERV SGPYVEHYLM PFGKGWFAGR NLAVSQVTTK
    360 370 380 390 400
    YVLWVDDDFV FTARTRLERL VDVLERTPLD LVGGAVREIS GFATTYRQLL
    410 420 430 440 450
    SVEPGAPGLG NCLRQRRGFH HELVGFPGCV VTDGVVNFFL ARTDKVREVG
    460 470 480 490 500
    FDPRLSRVAH LEFFLDGLGS LRVGSCSDVV VDHASKLKLP WTSRDAGAET
    510 520 530
    YARYRYPGSL DESQMAKHRL LFFKHRLQCM TSQ
    Length:533
    Mass (Da):58,882
    Last modified:November 1, 1995 - v2
    <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:i533946E05E2A102B
    GO
    Isoform 2 (identifier: Q00973-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         74-128: Missing.

    Show »
    Length:478
    Mass (Da):52,860
    Checksum:i6C41F497A0E2E255
    GO
    Isoform 3 (identifier: Q00973-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         238-328: VRFSTEGHEA...RVSGPYVEHY → GARPGWRDGQ...TVGGPRKRLV
         329-533: Missing.

    Show »
    Length:328
    Mass (Da):35,471
    Checksum:i451A27EC0E75259C
    GO

    <p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

    There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    F8W1A7F8W1A7_HUMAN
    Beta-1,4 N-acetylgalactosaminyltran...
    B4GALNT1
    231Annotation score:

    Annotation score:1 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>
    B4DSP5B4DSP5_HUMAN
    Beta-1,4 N-acetylgalactosaminyltran...
    B4GALNT1
    304Annotation score:

    Annotation score:1 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>
    F8VU35F8VU35_HUMAN
    Beta-1,4 N-acetylgalactosaminyltran...
    B4GALNT1
    237Annotation score:

    Annotation score:1 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>
    F8VR44F8VR44_HUMAN
    Beta-1,4 N-acetylgalactosaminyltran...
    B4GALNT1
    120Annotation score:

    Annotation score:1 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>
    F8VW33F8VW33_HUMAN
    Beta-1,4 N-acetylgalactosaminyltran...
    B4GALNT1
    81Annotation score:

    Annotation score:1 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>
    F8VSE0F8VSE0_HUMAN
    Beta-1,4 N-acetylgalactosaminyltran...
    B4GALNT1
    96Annotation score:

    Annotation score:1 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>
    H0YI57H0YI57_HUMAN
    Beta-1,4 N-acetylgalactosaminyltran...
    B4GALNT1
    151Annotation score:

    Annotation score:1 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>
    H0YHT1H0YHT1_HUMAN
    Beta-1,4 N-acetylgalactosaminyltran...
    B4GALNT1
    127Annotation score:

    Annotation score:1 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>

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_01205235L → V. Corresponds to variant dbSNP:rs774896EnsemblClinVar.1
    Natural variantiVAR_012053172G → R. Corresponds to variant dbSNP:rs810205EnsemblClinVar.1
    Natural variantiVAR_070235300R → C in SPG26. 1 PublicationCorresponds to variant dbSNP:rs756710480Ensembl.1
    Natural variantiVAR_070236433D → A in SPG26. 1 PublicationCorresponds to variant dbSNP:rs879255242EnsemblClinVar.1
    Natural variantiVAR_049237516A → V. Corresponds to variant dbSNP:rs17454674EnsemblClinVar.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_05503974 – 128Missing in isoform 2. 1 PublicationAdd BLAST55
    Alternative sequenceiVSP_055040238 – 328VRFST…YVEHY → GARPGWRDGQAGQTEKNQKG WSGQMAEGMGGIWAMARAVQ PHNGCFNWTSRARGRKGAFV HLGLEQARGKPEPWVCLPFR PTVGGPRKRLV in isoform 3. 1 PublicationAdd BLAST91
    Alternative sequenceiVSP_055041329 – 533Missing in isoform 3. 1 PublicationAdd BLAST205

    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
    M83651 mRNA Translation: AAA35516.1
    AK293432 mRNA Translation: BAG56937.1
    AC025165 Genomic DNA No translation available.
    BC029828 mRNA Translation: AAH29828.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS61170.1 [Q00973-2]
    CCDS61171.1 [Q00973-3]
    CCDS8950.1 [Q00973-1]

    Protein sequence database of the Protein Information Resource

    More...
    PIRi
    A44128
    A54379

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001263397.1, NM_001276468.1 [Q00973-2]
    NP_001263398.1, NM_001276469.1 [Q00973-3]
    NP_001469.1, NM_001478.4 [Q00973-1]
    XP_016874631.1, XM_017019142.1 [Q00973-1]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000341156; ENSP00000341562; ENSG00000135454 [Q00973-1]
    ENST00000418555; ENSP00000401601; ENSG00000135454 [Q00973-2]
    ENST00000550764; ENSP00000450303; ENSG00000135454 [Q00973-3]
    ENST00000552350; ENSP00000448500; ENSG00000135454 [Q00973-3]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    2583

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:2583

    UCSC genome browser

    More...
    UCSCi
    uc001spg.3 human [Q00973-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, 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%5Freferences%5Fsection">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

    Functional Glycomics Gateway - GTase

    Beta-1,4 N-acetylgalactosaminyltransferase 1

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    M83651 mRNA Translation: AAA35516.1
    AK293432 mRNA Translation: BAG56937.1
    AC025165 Genomic DNA No translation available.
    BC029828 mRNA Translation: AAH29828.1
    CCDSiCCDS61170.1 [Q00973-2]
    CCDS61171.1 [Q00973-3]
    CCDS8950.1 [Q00973-1]
    PIRiA44128
    A54379
    RefSeqiNP_001263397.1, NM_001276468.1 [Q00973-2]
    NP_001263398.1, NM_001276469.1 [Q00973-3]
    NP_001469.1, NM_001478.4 [Q00973-1]
    XP_016874631.1, XM_017019142.1 [Q00973-1]

    3D structure databases

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    SWISS-MODEL Interactive Workspace

    More...
    SWISS-MODEL-Workspacei
    Submit a new modelling project...

    Protein-protein interaction databases

    BioGRIDi108856, 9 interactors
    IntActiQ00973, 5 interactors
    STRINGi9606.ENSP00000341562

    Chemistry databases

    SwissLipidsiSLP:000000771
    SLP:000001406

    Protein family/group databases

    CAZyiGT12 Glycosyltransferase Family 12

    PTM databases

    iPTMnetiQ00973
    PhosphoSitePlusiQ00973
    SwissPalmiQ00973

    Polymorphism and mutation databases

    BioMutaiB4GALNT1
    DMDMi1168736

    Proteomic databases

    jPOSTiQ00973
    MassIVEiQ00973
    MaxQBiQ00973
    PaxDbiQ00973
    PeptideAtlasiQ00973
    PRIDEiQ00973
    ProteomicsDBi3917
    57885 [Q00973-1]
    72129

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...
    Antibodypediai
    2458 243 antibodies

    The DNASU plasmid repository

    More...
    DNASUi
    2583

    Genome annotation databases

    EnsembliENST00000341156; ENSP00000341562; ENSG00000135454 [Q00973-1]
    ENST00000418555; ENSP00000401601; ENSG00000135454 [Q00973-2]
    ENST00000550764; ENSP00000450303; ENSG00000135454 [Q00973-3]
    ENST00000552350; ENSP00000448500; ENSG00000135454 [Q00973-3]
    GeneIDi2583
    KEGGihsa:2583
    UCSCiuc001spg.3 human [Q00973-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    2583
    DisGeNETi2583
    EuPathDBiHostDB:ENSG00000135454.13

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    B4GALNT1
    HGNCiHGNC:4117 B4GALNT1
    HPAiENSG00000135454 Tissue enhanced (brain)
    MalaCardsiB4GALNT1
    MIMi601873 gene
    609195 phenotype
    neXtProtiNX_Q00973
    OpenTargetsiENSG00000135454
    Orphaneti101006 Autosomal recessive spastic paraplegia type 26
    PharmGKBiPA28532

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiENOG410IF61 Eukaryota
    ENOG4111N56 LUCA
    GeneTreeiENSGT00390000006679
    HOGENOMiCLU_036051_0_0_1
    InParanoidiQ00973
    KOiK00725
    OMAiRRFYPTI
    OrthoDBi363090at2759
    PhylomeDBiQ00973
    TreeFamiTF332297

    Enzyme and pathway databases

    BioCyciMetaCyc:HS06011-MONOMER
    BRENDAi2.4.1.92 2681
    ReactomeiR-HSA-1660662 Glycosphingolipid metabolism

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...
    BioGRID-ORCSi
    2583 4 hits in 787 CRISPR screens

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    B4GALNT1

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

    More...
    GenomeRNAii
    2583
    PharosiQ00973 Tbio

    Protein Ontology

    More...
    PROi
    PR:Q00973
    RNActiQ00973 protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000135454 Expressed in right hemisphere of cerebellum and 109 other tissues
    ExpressionAtlasiQ00973 baseline and differential
    GenevisibleiQ00973 HS

    Family and domain databases

    Gene3Di3.90.550.10, 1 hit
    InterProiView protein in InterPro
    IPR001173 Glyco_trans_2-like
    IPR011143 GM2_synthase
    IPR029044 Nucleotide-diphossugar_trans
    PfamiView protein in Pfam
    PF00535 Glycos_transf_2, 1 hit
    PIRSFiPIRSF000474 GM2_GD2_synthase, 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 nameiB4GN1_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: Q00973
    Secondary accession number(s): B4DE26, Q8N636
    <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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: November 1, 1995
    Last modified: June 17, 2020
    This is version 182 of the entry and version 2 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

    Reference proteome

    Documents

    1. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    2. SIMILARITY comments
      Index of protein domains and families
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    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. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
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