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BGN biglycan [ Homo sapiens (human) ]

Gene ID: 633, updated on 7-Dec-2018

Summary

Official Symbol
BGNprovided by HGNC
Official Full Name
biglycanprovided by HGNC
Primary source
HGNC:HGNC:1044
See related
Ensembl:ENSG00000182492 MIM:301870
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PGI; MRLS; DSPG1; PG-S1; SEMDX; SLRR1A
Summary
This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in bone growth, muscle development and regeneration, and collagen fibril assembly in multiple tissues. This protein may also regulate inflammation and innate immunity. Additionally, the encoded protein may contribute to atherosclerosis and aortic valve stenosis in human patients. This gene and the related gene decorin are thought to be the result of a gene duplication. [provided by RefSeq, Nov 2015]
Expression
Broad expression in gall bladder (RPKM 206.5), spleen (RPKM 159.3) and 20 other tissues See more
Orthologs

Genomic context

See BGN in Genome Data Viewer
Location:
Xq28
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (153494889..153509554)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (152760347..152775004)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene HAUS augmin like complex subunit 7 Neighboring gene extracellular matrix protein 2 Neighboring gene extracellular matrix protein 2-like Neighboring gene ATPase plasma membrane Ca2+ transporting 3 Neighboring gene cyclin Q

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • A tetrasaccharide linker sequence is required for GAG synthesis, organism-specific biosystem (from REACTOME)
    A tetrasaccharide linker sequence is required for GAG synthesis, organism-specific biosystemThe biosynthesis of dermatan sulfate/chondroitin sulfate and heparin/heparan sulfate glycosaminoglycans (GAGs) starts with the formation of a tetrasaccharide linker sequence to the core protein. The ...
  • CS/DS degradation, organism-specific biosystem (from REACTOME)
    CS/DS degradation, organism-specific biosystemLysosomal degradation of glycoproteins is part of the cellular homeostasis of glycosylation (Winchester 2005). The steps outlined below describe the degradation of chondroitin sulfate and dermatan su...
  • Chondroitin sulfate biosynthesis, organism-specific biosystem (from REACTOME)
    Chondroitin sulfate biosynthesis, organism-specific biosystemChondroitin sulfate (CS) glycosaminoglycan consists of N-acetylgalactosamine (GalNAc) residues alternating in glycosidic linkages with glucuronic acid (GlcA). GalNAc residues are sulfated to varying ...
  • Chondroitin sulfate/dermatan sulfate metabolism, organism-specific biosystem (from REACTOME)
    Chondroitin sulfate/dermatan sulfate metabolism, organism-specific biosystemChondroitin sulfate (CS) is a sulfated glycosaminoglycan (GAG). CS chains are unbranched polysaccharides of varying length containing two alternating monosaccharides: D-glucuronic acid (GlcA) and N-a...
  • Defective B3GALT6 causes EDSP2 and SEMDJL1, organism-specific biosystem (from REACTOME)
    Defective B3GALT6 causes EDSP2 and SEMDJL1, organism-specific biosystemThe biosynthesis of dermatan sulfate/chondroitin sulfate and heparin/heparan sulfate glycosaminoglycans (GAGs) starts with the formation of a tetrasaccharide linker sequence attached to the core prot...
  • Defective B3GAT3 causes JDSSDHD, organism-specific biosystem (from REACTOME)
    Defective B3GAT3 causes JDSSDHD, organism-specific biosystemGalactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferases1, 2 and 3 (B3GAT1-3) are involved in forming the linker tetrasaccharide present in heparan sulfate and chondroitin sulfate. Defects ...
  • Defective B4GALT7 causes EDS, progeroid type, organism-specific biosystem (from REACTOME)
    Defective B4GALT7 causes EDS, progeroid type, organism-specific biosystemEhlers?Danlos syndrome (EDS) is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen types I or III. Abnormal collagen renders connective tissues more ela...
  • Defective CHST14 causes EDS, musculocontractural type, organism-specific biosystem (from REACTOME)
    Defective CHST14 causes EDS, musculocontractural type, organism-specific biosystemCarbohydrate sulfotransferase 14 (CHST14 also known as D4ST-1) mediates the transfer of sulfate to position 4 of further N-acetylgalactosamine (GalNAc) residues of dermatan sulfate (DS). Defects in C...
  • Defective CHST3 causes SEDCJD, organism-specific biosystem (from REACTOME)
    Defective CHST3 causes SEDCJD, organism-specific biosystemCarbohydrate sulfotransferase 3 (CHST3) transfers sulfate (SO4(2-)) to position 6 of N-acetylgalactosamine (GalNAc) residues of chondroitin-containg proteins resulting in chondroitin sulfate (CS), th...
  • Defective CHSY1 causes TPBS, organism-specific biosystem (from REACTOME)
    Defective CHSY1 causes TPBS, organism-specific biosystemChondroitin sulfate synthases (CHSY) are involved in the synthesis of chondroitin sulfate, adding alternatingly glucuronate (GlcA) and N-acetylgalactosamine (GalNAc) to the growing chondroitin polyme...
  • Dermatan sulfate biosynthesis, organism-specific biosystem (from REACTOME)
    Dermatan sulfate biosynthesis, organism-specific biosystemDermatan sulfate (DS) consists of N-acetylgalactosamine (GalNAc) residues alternating in glycosidic linkages with glucuronic acid (GlcA) or iduronic acid (IdoA) residues. As with CS, GalNAc residues ...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
    Diseases associated with glycosaminoglycan metabolism, organism-specific biosystemA number of genetic disorders are caused by mutations in the genes encoding glycosyltransferases and sulfotransferases, enzymes responsible for the synthesis of glycosaminoglycans (GAGs) as well as ...
  • Diseases of glycosylation, organism-specific biosystem (from REACTOME)
    Diseases of glycosylation, organism-specific biosystemDiseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosylt...
  • ECM proteoglycans, organism-specific biosystem (from REACTOME)
    ECM proteoglycans, organism-specific biosystemProteoglycans are major components of the extracellular matrix. In cartilage the matrix constitutes more than 90% of tissue dry weight. Proteoglycans are proteins substituted with glycosaminoglycans ...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
    Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
  • Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystem (from REACTOME)
    Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystemThe acronym HS-GAG is used to describe both heparin and heparan sulfate. HS-GAG is a member of the glycosaminoglycan family and consists of a variably sulfated repeating disaccharide unit, the most ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
blood vessel remodeling IEA
Inferred from Electronic Annotation
more info
 
chondroitin sulfate biosynthetic process TAS
Traceable Author Statement
more info
 
chondroitin sulfate catabolic process TAS
Traceable Author Statement
more info
 
dermatan sulfate biosynthetic process TAS
Traceable Author Statement
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi lumen TAS
Traceable Author Statement
more info
 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
collagen-containing extracellular matrix HDA PubMed 
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
colocalizes_with collagen-containing extracellular matrix ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular matrix NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 
sarcolemma IEA
Inferred from Electronic Annotation
more info
 
transport vesicle IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
biglycan
Names
bone/cartilage proteoglycan-I
dermatan sulphate proteoglycan I
small leucine-rich protein 1A

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_015961.1 RefSeqGene

    Range
    4937..19602
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001711.6NP_001702.1  biglycan preproprotein

    See identical proteins and their annotated locations for NP_001702.1

    Status: REVIEWED

    Source sequence(s)
    AI538325, AK297966, BC002416, BQ180984, DC299956
    Consensus CDS
    CCDS14721.1
    UniProtKB/Swiss-Prot
    P21810
    UniProtKB/TrEMBL
    B4DNL4
    Related
    ENSP00000327336.4, ENST00000331595.8
    Conserved Domains (4) summary
    sd00031
    Location:302315
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:7191
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:277323
    LRR_8; Leucine rich repeat
    cl26018
    Location:64297
    NEL; C-terminal novel E3 ligase, LRR-interacting

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    153494889..153509554
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029724.2XP_016885213.1  biglycan isoform X1

    UniProtKB/Swiss-Prot
    P21810
    Conserved Domains (4) summary
    sd00031
    Location:302315
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:7191
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:277323
    LRR_8; Leucine rich repeat
    cl26018
    Location:64297
    NEL; C-terminal novel E3 ligase, LRR-interacting
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