Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Biglycan

Gene

BGN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May be involved in collagen fiber assembly.By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

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.

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

HGNCiHGNC:1044. BGN.

Subcellular locationi

GO - Cellular componenti

  • cell surface Source: MGI
  • cytoplasm Source: GO_Central
  • extracellular exosome Source: UniProtKB
  • extracellular region Source: Reactome
  • Golgi lumen Source: Reactome
  • lysosomal lumen Source: Reactome
  • proteinaceous extracellular matrix Source: UniProtKB
  • sarcolemma Source: Ensembl
  • transport vesicle Source: LIFEdb
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Defects in PGS1 have been found in patients with X-linked recessive spondyloepiphyseal dysplasia which is characterized by remarkable growth retardation between 12 and 24 months of age, resomelic shortening of the limbs, short limbs to trunk ratio, bowing of the legs, a waddling gait with lumbar lordosis and brachydactyly.

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi633.
OpenTargetsiENSG00000182492.
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)1 Publication1
Glycosylationi47O-linked (Xyl...) (glycosaminoglycan)1 Publication1
Disulfide bondi63 ↔ 69By similarity
Disulfide bondi67 ↔ 76By similarity
Glycosylationi180O-linked (Xyl...) (glycosaminoglycan)Sequence analysis1
Glycosylationi198O-linked (Xyl...) (glycosaminoglycan)Sequence analysis1
Glycosylationi270N-linked (GlcNAc...)1 Publication1
Glycosylationi311N-linked (GlcNAc...)1 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.

PTM databases

iPTMnetiP21810.
PhosphoSitePlusiP21810.

Miscellaneous databases

PMAP-CutDBP21810.

Expressioni

Tissue specificityi

Found in several connective tissues, especially in articular cartilages.

Gene expression databases

BgeeiENSG00000182492.
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.
IntActiP21810. 13 interactors.
MINTiMINT-4529946.
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

Contains 12 LRR (leucine-rich) repeats.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat, Signal

Phylogenomic databases

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

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR028547. Biglycan.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRRNT.
IPR016352. SLRP_I_decor/aspor/byglycan.
[Graphical view]
PANTHERiPTHR24369:SF6. PTHR24369:SF6. 1 hit.
PfamiPF13855. LRR_8. 3 hits.
PF01462. LRRNT. 1 hit.
[Graphical view]
PIRSFiPIRSF002490. SLRP_I. 1 hit.
SMARTiSM00369. LRR_TYP. 8 hits.
SM00013. LRRNT. 1 hit.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiPS51450. LRR. 8 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

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_076590147K → E Probable disease-associated mutation found in patients with X-linked recessive spondyloepiphyseal dysplasia; reduced protein stability. 1 Publication1
Natural variantiVAR_076591259G → V Probable disease-associated mutation found in patients with X-linked recessive spondyloepiphyseal dysplasia; reduced protein stability. 1 Publication1
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

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

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.
IntActiP21810. 13 interactors.
MINTiMINT-4529946.
STRINGi9606.ENSP00000327336.

PTM databases

iPTMnetiP21810.
PhosphoSitePlusiP21810.

Polymorphism and mutation databases

BioMutaiBGN.
DMDMi266762.

Proteomic databases

EPDiP21810.
MaxQBiP21810.
PaxDbiP21810.
PeptideAtlasiP21810.
PRIDEiP21810.

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.
GeneCardsiBGN.
HGNCiHGNC:1044. BGN.
HPAiCAB003678.
HPA003157.
MIMi301870. gene.
neXtProtiNX_P21810.
OpenTargetsiENSG00000182492.
PharmGKBiPA25346.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00760000118969.
HOGENOMiHOG000261690.
HOVERGENiHBG016052.
InParanoidiP21810.
KOiK08118.
OMAiQRGFWDF.
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.

Miscellaneous databases

ChiTaRSiBGN. human.
GeneWikiiBiglycan.
GenomeRNAii633.
PMAP-CutDBP21810.
PROiP21810.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000182492.
CleanExiHS_BGN.
ExpressionAtlasiP21810. baseline and differential.
GenevisibleiP21810. HS.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR028547. Biglycan.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRRNT.
IPR016352. SLRP_I_decor/aspor/byglycan.
[Graphical view]
PANTHERiPTHR24369:SF6. PTHR24369:SF6. 1 hit.
PfamiPF13855. LRR_8. 3 hits.
PF01462. LRRNT. 1 hit.
[Graphical view]
PIRSFiPIRSF002490. SLRP_I. 1 hit.
SMARTiSM00369. LRR_TYP. 8 hits.
SM00013. LRRNT. 1 hit.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiPS51450. LRR. 8 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPGS1_HUMAN
AccessioniPrimary (citable) accession number: P21810
Secondary accession number(s): D3DWU3, P13247
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 1, 1991
Last sequence update: April 1, 1993
Last modified: November 2, 2016
This is version 173 of the entry and version 2 of the sequence. [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. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.