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Protein

Biglycan

Gene

BGN

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

May be involved in collagen fiber assembly.By similarity

<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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis
R-HSA-2022870 Chondroitin sulfate biosynthesis
R-HSA-2022923 Dermatan sulfate biosynthesis
R-HSA-2024101 CS/DS degradation
R-HSA-3000178 ECM proteoglycans
R-HSA-3560783 Defective B4GALT7 causes EDS, progeroid type
R-HSA-3560801 Defective B3GAT3 causes JDSSDHD
R-HSA-3595172 Defective CHST3 causes SEDCJD
R-HSA-3595174 Defective CHST14 causes EDS, musculocontractural type
R-HSA-3595177 Defective CHSY1 causes TPBS
R-HSA-4420332 Defective B3GALT6 causes EDSP2 and SEMDJL1

SIGNOR Signaling Network Open Resource

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SIGNORi
P21810

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Biglycan
Alternative name(s):
Bone/cartilage proteoglycan I
PG-S1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:BGN
Synonyms:SLRR1A
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000182492.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1044 BGN

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
301870 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P21810

<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; Source: COMPARTMENTS

<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>Keywords - Cellular componenti

Extracellular matrix, Secreted

<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

Meester-Loeys syndrome (MRLS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn X-linked, thoracic aortic aneurysm syndrome characterized by early-onset, severe aortic aneurysm and dissection. Other recurrent findings include hypertelorism, pectus deformity, joint hypermobility, contractures, and mild skeletal dysplasia.
See also OMIM:300989
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_07802880G → S in MRLS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886037825EnsemblClinVar.1
Natural variantiVAR_078029303Q → P in MRLS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886037824EnsemblClinVar.1
Spondyloepimetaphyseal dysplasia, X-linked (SEMDX)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA X-linked recessive bone disease characterized by severe short-trunk dwarfism, brachydactyly, metaphyseal flaring of lower extremities, short and broad long bone diaphyses, moderate platyspondyly, normal facies, and normal intelligence.
See also OMIM:300106
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076590147K → E in SEMDX; reduced protein stability. 1 PublicationCorresponds to variant dbSNP:rs879255604EnsemblClinVar.1
Natural variantiVAR_076591259G → V in SEMDX. 1 PublicationCorresponds to variant dbSNP:rs879255605EnsemblClinVar.1

Keywords - Diseasei

Aortic aneurysm, Disease mutation, Dwarfism

Organism-specific databases

DisGeNET

More...
DisGeNETi
633

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
BGN

MalaCards human disease database

More...
MalaCardsi
BGN
MIMi300106 phenotype
300989 phenotype

Open Targets

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OpenTargetsi
ENSG00000182492

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

More...
Orphaneti
93349 X-linked spondyloepimetaphyseal dysplasia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25346

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BGN

Domain mapping of disease mutations (DMDM)

More...
DMDMi
266762

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 16By similarityAdd BLAST16
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000003269117 – 372 PublicationsAdd BLAST21
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000003269238 – 368BiglycanAdd BLAST331

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi42O-linked (Xyl...) (glycosaminoglycan) serine1 Publication1
Glycosylationi47O-linked (Xyl...) (glycosaminoglycan) serine1 Publication1
<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 bondi63 ↔ 69By similarity
Disulfide bondi67 ↔ 76By similarity
Glycosylationi180O-linked (Xyl...) (glycosaminoglycan) serineSequence analysis1
Glycosylationi198O-linked (Xyl...) (glycosaminoglycan) serineSequence analysis1
Glycosylationi270N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi311N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi321 ↔ 354By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

The two attached glycosaminoglycan chains can be either chondroitin sulfate or dermatan sulfate.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Proteoglycan

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P21810

MaxQB - The MaxQuant DataBase

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MaxQBi
P21810

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

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PaxDbi
P21810

PeptideAtlas

More...
PeptideAtlasi
P21810

PRoteomics IDEntifications database

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PRIDEi
P21810

ProteomicsDB human proteome resource

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ProteomicsDBi
53928

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
1042

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P21810

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

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PhosphoSitePlusi
P21810

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
P21810

<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

Found in several connective tissues, especially in articular cartilages.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000182492 Expressed in 217 organ(s), highest expression level in descending thoracic aorta

CleanEx database of gene expression profiles

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CleanExi
HS_BGN

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P21810 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P21810 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB003678
HPA003157

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer. Forms a ternary complex with MFAP2 and ELN (By similarity).By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107102, 10 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
P21810

Protein interaction database and analysis system

More...
IntActi
P21810, 14 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000327336

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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P21810

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

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SMRi
P21810

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati82 – 102LRR 1Add BLAST21
Repeati103 – 126LRR 2Add BLAST24
Repeati127 – 150LRR 3Add BLAST24
Repeati151 – 171LRR 4Add BLAST21
Repeati172 – 195LRR 5Add BLAST24
Repeati196 – 220LRR 6Add BLAST25
Repeati221 – 241LRR 7Add BLAST21
Repeati242 – 265LRR 8Add BLAST24
Repeati266 – 289LRR 9Add BLAST24
Repeati290 – 312LRR 10Add BLAST23
Repeati313 – 342LRR 11Add BLAST30
Repeati343 – 368LRR 12Add BLAST26

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi63 – 76Cys-richAdd BLAST14

<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

Keywords - Domaini

Leucine-rich repeat, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0619 Eukaryota
COG4886 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155311

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000261690

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG016052

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P21810

KEGG Orthology (KO)

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KOi
K08118

Identification of Orthologs from Complete Genome Data

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OMAi
LMMNDEE

Database of Orthologous Groups

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OrthoDBi
EOG091G044B

Database for complete collections of gene phylogenies

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PhylomeDBi
P21810

TreeFam database of animal gene trees

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TreeFami
TF334562

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.80.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR028547 Biglycan
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
IPR000372 LRRNT
IPR016352 SLRP_I_decor/aspor/byglycan

The PANTHER Classification System

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PANTHERi
PTHR44053:SF4 PTHR44053:SF4, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF13855 LRR_8, 3 hits
PF01462 LRRNT, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF002490 SLRP_I, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00369 LRR_TYP, 8 hits
SM00013 LRRNT, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51450 LRR, 8 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P21810-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MWPLWRLVSL LALSQALPFE QRGFWDFTLD DGPFMMNDEE ASGADTSGVL
60 70 80 90 100
DPDSVTPTYS AMCPFGCHCH LRVVQCSDLG LKSVPKEISP DTTLLDLQNN
110 120 130 140 150
DISELRKDDF KGLQHLYALV LVNNKISKIH EKAFSPLRKL QKLYISKNHL
160 170 180 190 200
VEIPPNLPSS LVELRIHDNR IRKVPKGVFS GLRNMNCIEM GGNPLENSGF
210 220 230 240 250
EPGAFDGLKL NYLRISEAKL TGIPKDLPET LNELHLDHNK IQAIELEDLL
260 270 280 290 300
RYSKLYRLGL GHNQIRMIEN GSLSFLPTLR ELHLDNNKLA RVPSGLPDLK
310 320 330 340 350
LLQVVYLHSN NITKVGVNDF CPMGFGVKRA YYNGISLFNN PVPYWEVQPA
360
TFRCVTDRLA IQFGNYKK
Length:368
Mass (Da):41,654
Last modified:April 1, 1993 - 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:iBF16F304C5CD3B3E
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JKG1C9JKG1_HUMAN
Biglycan
BGN
238Annotation score:

Annotation score:2 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 conflicti139 – 140KL → NV in AAA52287 (PubMed:2647739).Curated2
Sequence conflicti163 – 164EL → DV (PubMed:2647739).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07802880G → S in MRLS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886037825EnsemblClinVar.1
Natural variantiVAR_076590147K → E in SEMDX; reduced protein stability. 1 PublicationCorresponds to variant dbSNP:rs879255604EnsemblClinVar.1
Natural variantiVAR_076591259G → V in SEMDX. 1 PublicationCorresponds to variant dbSNP:rs879255605EnsemblClinVar.1
Natural variantiVAR_036605266R → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_036606288K → N in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_078029303Q → P in MRLS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886037824EnsemblClinVar.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

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DDBJi
Links Updated
J04599 mRNA Translation: AAA36009.1
M65153, M65152 Genomic DNA Translation: AAA52287.1 Sequence problems.
U82695 Genomic DNA No translation available.
BT007323 mRNA Translation: AAP35987.1
CH471172 Genomic DNA Translation: EAW72863.1
CH471172 Genomic DNA Translation: EAW72864.1
BC002416 mRNA Translation: AAH02416.1
BC004244 mRNA Translation: AAH04244.1
U11686 mRNA Translation: AAC50117.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS14721.1

Protein sequence database of the Protein Information Resource

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PIRi
A40757 BGHUN

NCBI Reference Sequences

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RefSeqi
NP_001702.1, NM_001711.5
XP_016885213.1, XM_017029724.1

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.821

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000331595; ENSP00000327336; ENSG00000182492

Database of genes from NCBI RefSeq genomes

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GeneIDi
633

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:633

UCSC genome browser

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UCSCi
uc004fhr.3 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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J04599 mRNA Translation: AAA36009.1
M65153, M65152 Genomic DNA Translation: AAA52287.1 Sequence problems.
U82695 Genomic DNA No translation available.
BT007323 mRNA Translation: AAP35987.1
CH471172 Genomic DNA Translation: EAW72863.1
CH471172 Genomic DNA Translation: EAW72864.1
BC002416 mRNA Translation: AAH02416.1
BC004244 mRNA Translation: AAH04244.1
U11686 mRNA Translation: AAC50117.1
CCDSiCCDS14721.1
PIRiA40757 BGHUN
RefSeqiNP_001702.1, NM_001711.5
XP_016885213.1, XM_017029724.1
UniGeneiHs.821

3D structure databases

ProteinModelPortaliP21810
SMRiP21810
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107102, 10 interactors
CORUMiP21810
IntActiP21810, 14 interactors
STRINGi9606.ENSP00000327336

PTM databases

GlyConnecti1042
iPTMnetiP21810
PhosphoSitePlusiP21810

Polymorphism and mutation databases

BioMutaiBGN
DMDMi266762

Proteomic databases

EPDiP21810
MaxQBiP21810
PaxDbiP21810
PeptideAtlasiP21810
PRIDEiP21810
ProteomicsDBi53928

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
633
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000331595; ENSP00000327336; ENSG00000182492
GeneIDi633
KEGGihsa:633
UCSCiuc004fhr.3 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
633
DisGeNETi633
EuPathDBiHostDB:ENSG00000182492.15

GeneCards: human genes, protein and diseases

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GeneCardsi
BGN
GeneReviewsiBGN
HGNCiHGNC:1044 BGN
HPAiCAB003678
HPA003157
MalaCardsiBGN
MIMi300106 phenotype
300989 phenotype
301870 gene
neXtProtiNX_P21810
OpenTargetsiENSG00000182492
Orphaneti93349 X-linked spondyloepimetaphyseal dysplasia
PharmGKBiPA25346

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0619 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00940000155311
HOGENOMiHOG000261690
HOVERGENiHBG016052
InParanoidiP21810
KOiK08118
OMAiLMMNDEE
OrthoDBiEOG091G044B
PhylomeDBiP21810
TreeFamiTF334562

Enzyme and pathway databases

ReactomeiR-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis
R-HSA-2022870 Chondroitin sulfate biosynthesis
R-HSA-2022923 Dermatan sulfate biosynthesis
R-HSA-2024101 CS/DS degradation
R-HSA-3000178 ECM proteoglycans
R-HSA-3560783 Defective B4GALT7 causes EDS, progeroid type
R-HSA-3560801 Defective B3GAT3 causes JDSSDHD
R-HSA-3595172 Defective CHST3 causes SEDCJD
R-HSA-3595174 Defective CHST14 causes EDS, musculocontractural type
R-HSA-3595177 Defective CHSY1 causes TPBS
R-HSA-4420332 Defective B3GALT6 causes EDSP2 and SEMDJL1
SIGNORiP21810

Miscellaneous databases

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

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ChiTaRSi
BGN human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Biglycan

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

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GenomeRNAii
633
PMAP-CutDBiP21810

Protein Ontology

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PROi
PR:P21810

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000182492 Expressed in 217 organ(s), highest expression level in descending thoracic aorta
CleanExiHS_BGN
ExpressionAtlasiP21810 baseline and differential
GenevisibleiP21810 HS

Family and domain databases

Gene3Di3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR028547 Biglycan
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
IPR000372 LRRNT
IPR016352 SLRP_I_decor/aspor/byglycan
PANTHERiPTHR44053:SF4 PTHR44053:SF4, 1 hit
PfamiView protein in Pfam
PF13855 LRR_8, 3 hits
PF01462 LRRNT, 1 hit
PIRSFiPIRSF002490 SLRP_I, 1 hit
SMARTiView protein in SMART
SM00369 LRR_TYP, 8 hits
SM00013 LRRNT, 1 hit
PROSITEiView protein in PROSITE
PS51450 LRR, 8 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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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 nameiPGS1_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: P21810
Secondary accession number(s): D3DWU3, P13247
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 1, 1991
Last sequence update: April 1, 1993
Last modified: December 5, 2018
This is version 192 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

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