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Protein

Biglycan

Gene

BGN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May be involved in collagen fiber assembly.By similarity

GO - Molecular functioni

GO - Biological processi

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

Names & Taxonomyi

Protein namesi
Recommended name:
Biglycan
Alternative name(s):
Bone/cartilage proteoglycan I
PG-S1
Gene namesi
Name:BGN
Synonyms:SLRR1A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000182492.15
HGNCiHGNC:1044 BGN
MIMi301870 gene
neXtProtiNX_P21810

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

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

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
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

DisGeNETi633
MalaCardsiBGN
MIMi300106 phenotype
300989 phenotype
OpenTargetsiENSG00000182492
Orphaneti93349 X-linked spondyloepimetaphyseal dysplasia
PharmGKBiPA25346

Polymorphism and mutation databases

BioMutaiBGN
DMDMi266762

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 16By similarityAdd BLAST16
PropeptideiPRO_000003269117 – 372 PublicationsAdd BLAST21
ChainiPRO_000003269238 – 368BiglycanAdd BLAST331

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi42O-linked (Xyl...) (glycosaminoglycan) serine1 Publication1
Glycosylationi47O-linked (Xyl...) (glycosaminoglycan) serine1 Publication1
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

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

EPDiP21810
MaxQBiP21810
PaxDbiP21810
PeptideAtlasiP21810
PRIDEiP21810
ProteomicsDBi53928

PTM databases

GlyConnecti1042
iPTMnetiP21810
PhosphoSitePlusiP21810

Miscellaneous databases

PMAP-CutDBiP21810

Expressioni

Tissue specificityi

Found in several connective tissues, especially in articular cartilages.

Gene expression databases

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

Organism-specific databases

HPAiCAB003678
HPA003157

Interactioni

Subunit structurei

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

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliP21810
SMRiP21810
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Compositional biasi63 – 76Cys-richAdd BLAST14

Sequence similaritiesi

Keywords - Domaini

Leucine-rich repeat, Repeat, Signal

Phylogenomic databases

eggNOGiKOG0619 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00760000118969
HOGENOMiHOG000261690
HOVERGENiHBG016052
InParanoidiP21810
KOiK08118
OMAiLMMNDEE
OrthoDBiEOG091G044B
PhylomeDBiP21810
TreeFamiTF334562

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

Sequence (1+)i

Sequence statusi: Complete.

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
Checksum:iBF16F304C5CD3B3E
GO

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:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

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

DNASUi633
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi633
DisGeNETi633
EuPathDBiHostDB:ENSG00000182492.15
GeneCardsiBGN
HGNCiHGNC:1044 BGN
HPAiCAB003678
HPA003157
MalaCardsiBGN
MIMi300106 phenotype
300989 phenotype
301870 gene
neXtProtiNX_P21810
OpenTargetsiENSG00000182492
Orphaneti93349 X-linked spondyloepimetaphyseal dysplasia
PharmGKBiPA25346
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0619 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00760000118969
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

ChiTaRSiBGN human
GeneWikiiBiglycan
GenomeRNAii633
PMAP-CutDBiP21810
PROiPR:P21810
SOURCEiSearch...

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
ProtoNetiSearch...

Entry informationi

Entry nameiPGS1_HUMAN
AccessioniPrimary (citable) accession number: P21810
Secondary accession number(s): D3DWU3, P13247
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 1, 1991
Last sequence update: April 1, 1993
Last modified: November 7, 2018
This is version 191 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

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