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Entry version 154 (07 Oct 2020)
Sequence version 1 (01 Jun 1998)
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Protein

Beta-1,4-glucuronyltransferase 1

Gene

B4GAT1

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

Beta-1,4-glucuronyltransferase involved in O-mannosylation of alpha-dystroglycan (DAG1). Transfers a glucuronic acid (GlcA) residue onto a xylose (Xyl) acceptor to produce the glucuronyl-beta-1,4-xylose-beta disaccharide primer, which is further elongated by LARGE1, during synthesis of phosphorylated O-mannosyl glycan (PubMed:25279699, PubMed:25279697). Phosphorylated O-mannosyl glycan is a carbohydrate is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:25279699, PubMed:25279697). Required for axon guidance; via its function in O-mannosylation of alpha-dystroglycan (DAG1) (By similarity).By similarity4 Publications

Caution

Was initially characterized as a beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine, able to initiate the synthesis or the elongation of the linear poly-N-acetyllactosaminoglycans (PubMed:9405606). However, it was later shown that it acts as a beta-1,4-glucuronyltransferase (PubMed:25279699, PubMed:25279697).1 Publication2 Publications

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mn2+1 Publication

<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>pH dependencei

Optimum pH is 7.0.1 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: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.3 Publications
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi227Manganese1 Publication1
Metal bindingi229Manganese1 Publication1

<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
LigandManganese, Metal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS10821-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
2.4.1.149, 2681

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
O43505

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2022854, Keratan sulfate biosynthesis
R-HSA-5083627, Defective LARGE causes MDDGA6 and MDDGB6
R-HSA-5173105, O-linked glycosylation

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00378

Protein family/group databases

Carbohydrate-Active enZymes

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CAZyi
GT49, Glycosyltransferase Family 49

<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-glucuronyltransferase 12 PublicationsImported (EC:2.4.1.-2 Publications)
Alternative name(s):
I-beta-1,3-N-acetylglucosaminyltransferase
Short name:
iGnT
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase
Poly-N-acetyllactosamine extension enzyme
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1
<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:B4GAT12 PublicationsImported
Synonyms:B3GNT1Imported, B3GNT6
<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 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000174684.6

Human Gene Nomenclature Database

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HGNCi
HGNC:15685, B4GAT1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
605517, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O43505

<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 – 8CytoplasmicSequence analysis8
<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>Transmembranei9 – 36Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST28
Topological domaini37 – 415LumenalSequence analysisAdd BLAST379

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

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.
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_069989390N → D in MDDGA13. 1 PublicationCorresponds to variant dbSNP:rs397509397EnsemblClinVar.1
Natural variantiVAR_069990406A → V in MDDGA13. 1 PublicationCorresponds to variant dbSNP:rs397509396EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi155M → T in Mut3; mislocalization to the endoplasmic reticulum. 1 Publication1
Mutagenesisi227 – 229DVD → NVN in Mut2; mislocalization to the endoplasmic reticulum. 1 Publication3

Keywords - Diseasei

Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Lissencephaly

Organism-specific databases

DisGeNET

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DisGeNETi
11041

MalaCards human disease database

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MalaCardsi
B4GAT1
MIMi615287, phenotype

Open Targets

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OpenTargetsi
ENSG00000174684

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

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Orphaneti
899, Walker-Warburg syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA164741279

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
O43505, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
B4GAT1

<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_00000805551 – 415Beta-1,4-glucuronyltransferase 1Add BLAST415

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>Glycosylationi204N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi300N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O43505

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O43505

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
O43505

MaxQB - The MaxQuant DataBase

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MaxQBi
O43505

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

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PaxDbi
O43505

PeptideAtlas

More...
PeptideAtlasi
O43505

PRoteomics IDEntifications database

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PRIDEi
O43505

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
48998

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1033, 1 N-Linked glycan (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

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GlyGeni
O43505, 2 sites

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O43505

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

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PhosphoSitePlusi
O43505

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O43505

<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

In the adult, highly expressed in heart, brain, skeletal muscle and kidney and to a lesser extent in placenta, pancreas, spleen, prostate, testis, ovary, small intestine and colon. Very weak expression in lung, liver, thymus and peripheral blood leukocytes. In fetal highly expressed in brain and kidney and to a lesser extent in lung and liver.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000174684, Expressed in endothelial cell and 241 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O43505, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O43505, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000174684, 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

Interacts with LARGE1 and LARGE2.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
116229, 53 interactors

Database of interacting proteins

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DIPi
DIP-48921N

Protein interaction database and analysis system

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IntActi
O43505, 49 interactors

Molecular INTeraction database

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MINTi
O43505

STRING: functional protein association networks

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STRINGi
9606.ENSP00000309096

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
O43505, 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 49 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3765, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000157679

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_019238_5_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O43505

KEGG Orthology (KO)

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KOi
K21032

Identification of Orthologs from Complete Genome Data

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OMAi
EVRPFYE

Database of Orthologous Groups

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OrthoDBi
729091at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O43505

TreeFam database of animal gene trees

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TreeFami
TF319168

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR043189, B4GAT1

The PANTHER Classification System

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PANTHERi
PTHR46420, PTHR46420, 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>Sequencei

<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.

O43505-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MQMSYAIRCA FYQLLLAALM LVAMLQLLYL SLLSGLHGQE EQDQYFEFFP
60 70 80 90 100
PSPRSVDQVK AQLRTALASG GVLDASGDYR VYRGLLKTTM DPNDVILATH
110 120 130 140 150
ASVDNLLHLS GLLERWEGPL SVSVFAATKE EAQLATVLAY ALSSHCPDMR
160 170 180 190 200
ARVAMHLVCP SRYEAAVPDP REPGEFALLR SCQEVFDKLA RVAQPGINYA
210 220 230 240 250
LGTNVSYPNN LLRNLAREGA NYALVIDVDM VPSEGLWRGL REMLDQSNQW
260 270 280 290 300
GGTALVVPAF EIRRARRMPM NKNELVQLYQ VGEVRPFYYG LCTPCQAPTN
310 320 330 340 350
YSRWVNLPEE SLLRPAYVVP WQDPWEPFYV AGGKVPTFDE RFRQYGFNRI
360 370 380 390 400
SQACELHVAG FDFEVLNEGF LVHKGFKEAL KFHPQKEAEN QHNKILYRQF
410
KQELKAKYPN SPRRC
Length:415
Mass (Da):47,119
Last modified:June 1, 1998 - 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:i432D00980EFE2B35
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_025019253T → S1 PublicationCorresponds to variant dbSNP:rs35429253EnsemblClinVar.1
Natural variantiVAR_069989390N → D in MDDGA13. 1 PublicationCorresponds to variant dbSNP:rs397509397EnsemblClinVar.1
Natural variantiVAR_069990406A → V in MDDGA13. 1 PublicationCorresponds to variant dbSNP:rs397509396EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF029893 mRNA Translation: AAC39538.1
DQ066422 Genomic DNA Translation: AAY46155.1
BC021965 mRNA Translation: AAH21965.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS8136.1

NCBI Reference Sequences

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RefSeqi
NP_006867.1, NM_006876.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000311181; ENSP00000309096; ENSG00000174684

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
11041

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:11041

UCSC genome browser

More...
UCSCi
uc001ohr.4, 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%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

SeattleSNPs
Functional Glycomics Gateway - GTase

N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF029893 mRNA Translation: AAC39538.1
DQ066422 Genomic DNA Translation: AAY46155.1
BC021965 mRNA Translation: AAH21965.1
CCDSiCCDS8136.1
RefSeqiNP_006867.1, NM_006876.2

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGRIDi116229, 53 interactors
DIPiDIP-48921N
IntActiO43505, 49 interactors
MINTiO43505
STRINGi9606.ENSP00000309096

Protein family/group databases

CAZyiGT49, Glycosyltransferase Family 49

PTM databases

GlyConnecti1033, 1 N-Linked glycan (1 site)
GlyGeniO43505, 2 sites
iPTMnetiO43505
PhosphoSitePlusiO43505
SwissPalmiO43505

Polymorphism and mutation databases

BioMutaiB4GAT1

Proteomic databases

EPDiO43505
jPOSTiO43505
MassIVEiO43505
MaxQBiO43505
PaxDbiO43505
PeptideAtlasiO43505
PRIDEiO43505
ProteomicsDBi48998

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
2208, 126 antibodies

The DNASU plasmid repository

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DNASUi
11041

Genome annotation databases

EnsembliENST00000311181; ENSP00000309096; ENSG00000174684
GeneIDi11041
KEGGihsa:11041
UCSCiuc001ohr.4, human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
11041
DisGeNETi11041
EuPathDBiHostDB:ENSG00000174684.6

GeneCards: human genes, protein and diseases

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GeneCardsi
B4GAT1
HGNCiHGNC:15685, B4GAT1
HPAiENSG00000174684, Tissue enhanced (brain)
MalaCardsiB4GAT1
MIMi605517, gene
615287, phenotype
neXtProtiNX_O43505
OpenTargetsiENSG00000174684
Orphaneti899, Walker-Warburg syndrome
PharmGKBiPA164741279

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3765, Eukaryota
GeneTreeiENSGT00940000157679
HOGENOMiCLU_019238_5_0_1
InParanoidiO43505
KOiK21032
OMAiEVRPFYE
OrthoDBi729091at2759
PhylomeDBiO43505
TreeFamiTF319168

Enzyme and pathway databases

UniPathwayiUPA00378
BioCyciMetaCyc:HS10821-MONOMER
BRENDAi2.4.1.149, 2681
PathwayCommonsiO43505
ReactomeiR-HSA-2022854, Keratan sulfate biosynthesis
R-HSA-5083627, Defective LARGE causes MDDGA6 and MDDGB6
R-HSA-5173105, O-linked glycosylation

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
11041, 3 hits in 867 CRISPR screens

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

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ChiTaRSi
B4GAT1, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
B3GNT1

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

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GenomeRNAii
11041
PharosiO43505, Tbio

Protein Ontology

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PROi
PR:O43505
RNActiO43505, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000174684, Expressed in endothelial cell and 241 other tissues
ExpressionAtlasiO43505, baseline and differential
GenevisibleiO43505, HS

Family and domain databases

InterProiView protein in InterPro
IPR043189, B4GAT1
PANTHERiPTHR46420, PTHR46420, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiB4GA1_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: O43505
Secondary accession number(s): Q4TTN0
<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: September 19, 2002
Last sequence update: June 1, 1998
Last modified: October 7, 2020
This is version 154 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

Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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