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UniProtKB - Q9UBV7 (B4GT7_HUMAN)

Entry version 189 (07 Oct 2020)
Sequence version 1 (01 May 2000)
Previous versions | rss
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Protein

Beta-1,4-galactosyltransferase 7

Gene

B4GALT7

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

Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.1 Publication

<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 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 <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.
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 bindingi165ManganeseCombined sources1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei194UDP-alpha-D-galactoseCombined sources1 Publication1
Binding sitei224UDP-alpha-D-galactoseCombined sources1 Publication1
Metal bindingi257Manganese; via tele nitrogenCombined sources1 Publication1
Binding sitei266UDP-alpha-D-galactoseCombined sources1 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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:HS00459-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.4.1.133, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9UBV7

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1971475, A tetrasaccharide linker sequence is required for GAG synthesis
R-HSA-3560783, Defective B4GALT7 causes EDS, progeroid type

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

More...UniPathwayi		UPA00378

Protein family/group databases

Carbohydrate-Active enZymes

More...CAZyi		GT7, Glycosyltransferase Family 7

<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-galactosyltransferase 7 (EC:2.4.1.-)
Short name:
Beta-1,4-GalTase 7
Short name:
Beta4Gal-T7
Short name:
b4Gal-T7
Alternative name(s):
Proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I
UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7
UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7
UDP-galactose:beta-xylose beta-1,4-galactosyltransferase
XGPT
XGalT-1
Xylosylprotein 4-beta-galactosyltransferase (EC:2.4.1.133)
Xylosylprotein beta-1,4-galactosyltransferase
<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:B4GALT7
Synonyms:XGALT1
ORF Names:UNQ748/PRO1478
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000027847.13

Human Gene Nomenclature Database

More...HGNCi		HGNC:930, B4GALT7

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604327, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9UBV7

<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 – 30CytoplasmicSequence analysisAdd BLAST30
<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>Transmembranei31 – 51Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini52 – 327LumenalSequence analysisAdd BLAST276

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

Ehlers-Danlos syndrome, spondylodysplastic type, 1 (EDSSPD1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD1 is an autosomal recessive form characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic features of Ehlers-Danlos syndrome.
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_010293186A → D in EDSSPD1. 1 PublicationCorresponds to variant dbSNP:rs121917817EnsemblClinVar.1
Natural variantiVAR_010294206L → P in EDSSPD1. 1 PublicationCorresponds to variant dbSNP:rs121917818EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dwarfism, Ehlers-Danlos syndrome

Organism-specific databases

DisGeNET

More...DisGeNETi		11285

MalaCards human disease database

More...MalaCardsi		B4GALT7
MIMi130070, phenotype

Open Targets

More...OpenTargetsi		ENSG00000027847

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

More...Orphaneti		75496, B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
294049, Reunion Island Larsen-like syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA25229

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9UBV7, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		B4GALT7

Domain mapping of disease mutations (DMDM)

More...DMDMi		13123990

<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_00000805501 – 327Beta-1,4-galactosyltransferase 7Add BLAST327

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>Glycosylationi154N-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 bondi316 ↔ 324

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9UBV7

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9UBV7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9UBV7

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9UBV7

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

More...PaxDbi		Q9UBV7

PeptideAtlas

More...PeptideAtlasi		Q9UBV7

PRoteomics IDEntifications database

More...PRIDEi		Q9UBV7

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		84081

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q9UBV7, 1 site

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9UBV7

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9UBV7

<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

High expression in heart, pancreas and liver, medium in placenta and kidney, low in brain, skeletal muscle and lung.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000027847, Expressed in left adrenal gland and 216 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9UBV7, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9UBV7, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000027847, Low tissue specificity

<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 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)

More...BioGRIDi		116441, 40 interactors

Protein interaction database and analysis system

More...IntActi		Q9UBV7, 31 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000029410

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9UBV7, protein

<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

Secondary structure

1327
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q9UBV7

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni100 – 104UDP-alpha-D-galactose bindingCombined sources1 Publication5
Regioni139 – 141UDP-alpha-D-galactose binding1 Publication3
Regioni164 – 165UDP-alpha-D-galactose bindingCombined sources1 Publication2
Regioni226 – 229N-acetyl-D-glucosamine bindingCurated4
Regioni257 – 259UDP-alpha-D-galactose bindingCombined sources1 Publication3

<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 7 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3917, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157712

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_044391_5_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9UBV7

KEGG Orthology (KO)

More...KOi		K00733

Identification of Orthologs from Complete Genome Data

More...OMAi		FSHIHNR

Database of Orthologous Groups

More...OrthoDBi		1201618at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9UBV7

TreeFam database of animal gene trees

More...TreeFami		TF312834

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
IPR003859, Galactosyl_T
IPR027791, Galactosyl_T_C
IPR027995, Galactosyl_T_N
IPR029044, Nucleotide-diphossugar_trans

The PANTHER Classification System

More...PANTHERi		PTHR19300, PTHR19300, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02709, Glyco_transf_7C, 1 hit
PF13733, Glyco_transf_7N, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR02050, B14GALTRFASE

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>Sequence (1+)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 has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

Q9UBV7-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MFPSRRKAAQ LPWEDGRSGL LSGGLPRKCS VFHLFVACLS LGFFSLLWLQ 
        60         70         80         90        100
LSCSGDVARA VRGQGQETSG PPRACPPEPP PEHWEEDASW GPHRLAVLVP 
       110        120        130        140        150
FRERFEELLV FVPHMRRFLS RKKIRHHIYV LNQVDHFRFN RAALINVGFL 
       160        170        180        190        200
ESSNSTDYIA MHDVDLLPLN EELDYGFPEA GPFHVASPEL HPLYHYKTYV 
       210        220        230        240        250
GGILLLSKQH YRLCNGMSNR FWGWGREDDE FYRRIKGAGL QLFRPSGITT 
       260        270        280        290        300
GYKTFRHLHD PAWRKRDQKR IAAQKQEQFK VDREGGLNTV KYHVASRTAL 
       310        320 
SVGGAPCTVL NIMLDCDKTA TPWCTFS
Length:327
Mass (Da):37,406
Last modified:May 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:i2EDF51A2F8143135
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RJI5D6RJI5_HUMAN
Beta-1,4-galactosyltransferase 7
B4GALT7
170Annotation 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>
H0Y9D6H0Y9D6_HUMAN
Beta-1,4-galactosyltransferase 7
B4GALT7
77Annotation 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>
D6RA33D6RA33_HUMAN
Beta-1,4-galactosyltransferase 7
B4GALT7
42Annotation 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>
D6RDJ8D6RDJ8_HUMAN
Beta-1,4-galactosyltransferase 7
B4GALT7
36Annotation 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>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti147V → L in AAF22225 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010293186A → D in EDSSPD1. 1 PublicationCorresponds to variant dbSNP:rs121917817EnsemblClinVar.1
Natural variantiVAR_010294206L → P in EDSSPD1. 1 PublicationCorresponds to variant dbSNP:rs121917818EnsemblClinVar.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
AJ005382 mRNA Translation: CAB56424.1
AB028600 mRNA Translation: BAA83414.1
AF142675 mRNA Translation: AAF22225.1
AY358578 mRNA Translation: AAQ88941.1
AK023506 mRNA Translation: BAG51201.1
CH471195 Genomic DNA Translation: EAW84965.1
BC007317 mRNA Translation: AAH07317.1
BC062983 mRNA Translation: AAH62983.1
BC072403 mRNA Translation: AAH72403.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS4429.1

NCBI Reference Sequences

More...RefSeqi		NP_009186.1, NM_007255.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000029410; ENSP00000029410; ENSG00000027847

Database of genes from NCBI RefSeq genomes

More...GeneIDi		11285

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:11285

UCSC genome browser

More...UCSCi		uc003mhy.4, human

<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-galactosyltransferase 7

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ005382 mRNA Translation: CAB56424.1
AB028600 mRNA Translation: BAA83414.1
AF142675 mRNA Translation: AAF22225.1
AY358578 mRNA Translation: AAQ88941.1
AK023506 mRNA Translation: BAG51201.1
CH471195 Genomic DNA Translation: EAW84965.1
BC007317 mRNA Translation: AAH07317.1
BC062983 mRNA Translation: AAH62983.1
BC072403 mRNA Translation: AAH72403.1
CCDSiCCDS4429.1
RefSeqiNP_009186.1, NM_007255.2

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4IRPX-ray2.10A/B81-327[»]
4IRQX-ray2.30A/B/C/D81-327[»]
SMRiQ9UBV7
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi116441, 40 interactors
IntActiQ9UBV7, 31 interactors
STRINGi9606.ENSP00000029410

Protein family/group databases

CAZyiGT7, Glycosyltransferase Family 7

PTM databases

GlyGeniQ9UBV7, 1 site
iPTMnetiQ9UBV7
SwissPalmiQ9UBV7

Polymorphism and mutation databases

BioMutaiB4GALT7
DMDMi13123990

Proteomic databases

EPDiQ9UBV7
jPOSTiQ9UBV7
MassIVEiQ9UBV7
MaxQBiQ9UBV7
PaxDbiQ9UBV7
PeptideAtlasiQ9UBV7
PRIDEiQ9UBV7
ProteomicsDBi84081

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		29347, 114 antibodies

The DNASU plasmid repository

More...DNASUi		11285

Genome annotation databases

EnsembliENST00000029410; ENSP00000029410; ENSG00000027847
GeneIDi11285
KEGGihsa:11285
UCSCiuc003mhy.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		11285
DisGeNETi11285
EuPathDBiHostDB:ENSG00000027847.13

GeneCards: human genes, protein and diseases

More...GeneCardsi		B4GALT7
HGNCiHGNC:930, B4GALT7
HPAiENSG00000027847, Low tissue specificity
MalaCardsiB4GALT7
MIMi130070, phenotype
604327, gene
neXtProtiNX_Q9UBV7
OpenTargetsiENSG00000027847
Orphaneti75496, B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
294049, Reunion Island Larsen-like syndrome
PharmGKBiPA25229

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3917, Eukaryota
GeneTreeiENSGT00940000157712
HOGENOMiCLU_044391_5_1_1
InParanoidiQ9UBV7
KOiK00733
OMAiFSHIHNR
OrthoDBi1201618at2759
PhylomeDBiQ9UBV7
TreeFamiTF312834

Enzyme and pathway databases

UniPathwayiUPA00378
BioCyciMetaCyc:HS00459-MONOMER
BRENDAi2.4.1.133, 2681
PathwayCommonsiQ9UBV7
ReactomeiR-HSA-1971475, A tetrasaccharide linker sequence is required for GAG synthesis
R-HSA-3560783, Defective B4GALT7 causes EDS, progeroid type

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		11285, 18 hits in 872 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		B4GALT7

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

More...GenomeRNAii		11285
PharosiQ9UBV7, Tbio

Protein Ontology

More...PROi		PR:Q9UBV7
RNActiQ9UBV7, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000027847, Expressed in left adrenal gland and 216 other tissues
ExpressionAtlasiQ9UBV7, baseline and differential
GenevisibleiQ9UBV7, HS

Family and domain databases

Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR003859, Galactosyl_T
IPR027791, Galactosyl_T_C
IPR027995, Galactosyl_T_N
IPR029044, Nucleotide-diphossugar_trans
PANTHERiPTHR19300, PTHR19300, 1 hit
PfamiView protein in Pfam
PF02709, Glyco_transf_7C, 1 hit
PF13733, Glyco_transf_7N, 1 hit
PRINTSiPR02050, B14GALTRFASE
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 nameiB4GT7_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: Q9UBV7
Secondary accession number(s): B3KN39, Q9UHN2
<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: February 21, 2001
Last sequence update: May 1, 2000
Last modified: October 7, 2020
This is version 189 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

3D-structure, Reference proteome

Documents

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