PRG4 proteoglycan 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRG4provided by HGNC
Official Full Name: proteoglycan 4provided by HGNC
Primary source: HGNC:HGNC:9364
See related: Ensembl:ENSG00000116690 MIM:604283; AllianceGenome:HGNC:9364
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: MSF; SZP; CACP; HAPO; JCAP
Summary: The protein encoded by this gene is a large proteoglycan that is synthesized by chondrocytes located at the surface of articular cartilage and by some synovial lining cells. This protein contains both chondroitin sulfate and keratan sulfate glycosaminoglycans. It functions as a boundary lubricant at the cartilage surface and contributes to the elastic absorption and energy dissipation of synovial fluid. Mutations in this gene result in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Expression: Biased expression in liver (RPKM 61.2), fat (RPKM 6.6) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 1q31.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (186296273..186314567)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (185650929..185669225)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (186265405..186283699)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome: The First Familial Case in China and Novel Mutations of the Proteoglycan 4 Gene.
Title: Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome: The First Familial Case in China and Novel Mutations of the Proteoglycan 4 Gene.
A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report.
Title: A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report.
Recombinant Human Proteoglycan 4 (rhPRG4) Downregulates TNFalpha-Stimulated NFkappaB Activity and FAT10 Expression in Human Corneal Epithelial Cells.
Title: Recombinant Human Proteoglycan 4 (rhPRG4) Downregulates TNFα-Stimulated NFκB Activity and FAT10 Expression in Human Corneal Epithelial Cells.
Proteoglycan 4 is present within the dura mater and produced by mesenchymal progenitor cells.
Title: Proteoglycan 4 is present within the dura mater and produced by mesenchymal progenitor cells.
Regulatory Mechanisms of Prg4 and Gdf5 Expression in Articular Cartilage and Functions in Osteoarthritis.
Title: Regulatory Mechanisms of Prg4 and Gdf5 Expression in Articular Cartilage and Functions in Osteoarthritis.
Recombinant Human Proteoglycan 4 Regulates Phagocytic Activation of Monocytes and Reduces IL-1beta Secretion by Urate Crystal Stimulated Gout PBMCs.
Title: Recombinant Human Proteoglycan 4 Regulates Phagocytic Activation of Monocytes and Reduces IL-1β Secretion by Urate Crystal Stimulated Gout PBMCs.
Proteoglycan 4 Modulates Osteogenic Smooth Muscle Cell Differentiation during Vascular Remodeling and Intimal Calcification.
Title: Proteoglycan 4 Modulates Osteogenic Smooth Muscle Cell Differentiation during Vascular Remodeling and Intimal Calcification.
Interrelationship of MMP-9, Proteoglycan-4, and Inflammation in Osteoarthritis Patients Undergoing Total Hip Arthroplasty.
Title: Interrelationship of MMP-9, Proteoglycan-4, and Inflammation in Osteoarthritis Patients Undergoing Total Hip Arthroplasty.
Proteoglycan 4 (PRG4) expression and function in dry eye associated inflammation.
Title: Proteoglycan 4 (PRG4) expression and function in dry eye associated inflammation.
Decrease of core 2 O-glycans on synovial lubricin in osteoarthritis reduces galectin-3 mediated crosslinking.
Title: Decrease of core 2 O-glycans on synovial lubricin in osteoarthritis reduces galectin-3 mediated crosslinking.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome MedGen: C1859690 OMIM: 208250 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-Tat peptide interferes with polyamine uptake via competition for proteoglycan binding sites rather than a putative downstream transporter in human carcinoma cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G62041 (e-PCR)
- UniSTS:139135

RH80846 (e-PCR)
- UniSTS:87439

G31461 (e-PCR)
- UniSTS:73106

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent conferring compression resistance	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables polysaccharide binding	IEA Inferred from Electronic Annotation more info
enables scavenger receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in immune response	IEA Inferred from Electronic Annotation more info
involved_in vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: proteoglycan 4

Names: articular superficial zone protein; hemangiopoietin; lubricin; megakaryocyte stimulating factor; superficial zone proteoglycan

NCBI Reference Sequences (RefSeq)

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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

NG_008248.2 RefSeqGene

Range

4994..23282

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001127708.3 → NP_001121180.2 proteoglycan 4 isoform B preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (B, also known as V0a) lacks an alternate in-frame exon in the 5' coding region, compared to variant A. The resulting protein (isoform B) is shorter than isoform A.

Source sequence(s)

AK131434, AL133553, CA435357, DA977744, KF455089, U70136

Consensus CDS

CCDS44288.1

Related

ENSP00000356453.4, ENST00000367483.8

Conserved Domains (4) summary

smart00201
Location:25 → 67

SO; Somatomedin B -like domains

PHA03247
Location:333 → 798

PHA03247; large tegument protein UL36; Provisional

PRK14950
Location:258 → 378

PRK14950; DNA polymerase III subunits gamma and tau; Provisional

cd00094
Location:1102 → 1362

HX; Hemopexin-like repeats.; Hemopexin is a heme-binding protein that transports heme to the liver. Hemopexin-like repeats occur in vitronectin and some matrix metalloproteinases family (matrixins). The HX repeats of some matrixins bind tissue inhibitor of ...
NM_001127709.3 → NP_001121181.2 proteoglycan 4 isoform C preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (C, also known as V2) lacks two alternate in-frame exons in the 5' coding region, compared to variant A. The resulting protein (isoform C) is shorter than isoform A.

Source sequence(s)

AK131434, AL133553, CA435357, DA977744, DC404857, KF455089, U70136

Consensus CDS

CCDS44287.1

Related

ENSP00000356455.4, ENST00000367485.4

Conserved Domains (4) summary

smart00201
Location:66 → 108

SO; Somatomedin B -like domains

PHA03247
Location:304 → 814

PHA03247; large tegument protein UL36; Provisional

PRK12270
Location:266 → 339

kgd; multifunctional oxoglutarate decarboxylase/oxoglutarate dehydrogenase thiamine pyrophosphate-binding subunit/dihydrolipoyllysine-residue succinyltransferase subunit

cd00094
Location:1050 → 1310

HX; Hemopexin-like repeats.; Hemopexin is a heme-binding protein that transports heme to the liver. Hemopexin-like repeats occur in vitronectin and some matrix metalloproteinases family (matrixins). The HX repeats of some matrixins bind tissue inhibitor of ...
NM_001127710.3 → NP_001121182.2 proteoglycan 4 isoform D preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (D, also known as V3) lacks three alternate in-frame exons in the 5' coding region, compared to variant A. The resulting protein (isoform D) is shorter than isoform A.

Source sequence(s)

AK131434, AL133553, CA435357, DA977744, DC295855, KF455089, U70136

Conserved Domains (4) summary

smart00201
Location:25 → 67

SO; Somatomedin B -like domains

PHA03247
Location:240 → 705

PHA03247; large tegument protein UL36; Provisional

PRK14950
Location:165 → 285

PRK14950; DNA polymerase III subunits gamma and tau; Provisional

cd00094
Location:1009 → 1269

HX; Hemopexin-like repeats.; Hemopexin is a heme-binding protein that transports heme to the liver. Hemopexin-like repeats occur in vitronectin and some matrix metalloproteinases family (matrixins). The HX repeats of some matrixins bind tissue inhibitor of ...
NM_001303232.2 → NP_001290161.1 proteoglycan 4 isoform E preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (E, also known as V1) lacks an alternate in-frame exon in the 5' coding region, compared to variant A. The resulting protein (isoform E) is shorter than isoform A.

Source sequence(s)

AL133553, CA435357, DA995681, U70136

Consensus CDS

CCDS81411.1

Related

ENSP00000489292.1, ENST00000635041.1

Conserved Domains (3) summary

smart00201
Location:66 → 108

SO; Somatomedin B -like domains

cd00094
Location:1100 → 1360

HX; Hemopexin-like repeats.; Hemopexin is a heme-binding protein that transports heme to the liver. Hemopexin-like repeats occur in vitronectin and some matrix metalloproteinases family (matrixins). The HX repeats of some matrixins bind tissue inhibitor of ...

pfam05086
Location:336 → 399

Dicty_REP; Dictyostelium (Slime Mold) REP protein
NM_005807.6 → NP_005798.3 proteoglycan 4 isoform A preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (A, also known as V0) represents the longest transcript and encodes the longest isoform (A).

Source sequence(s)

AL133553, KF455089

Consensus CDS

CCDS1369.1

UniProtKB/Swiss-Prot

Q6DNC4, Q6DNC5, Q6ZMZ5, Q92954, Q9BX49

Related

ENSP00000399679.3, ENST00000445192.7

Conserved Domains (4) summary

PRK13335
Location:304 → 441

PRK13335; superantigen-like protein SSL3; Reviewed

smart00201
Location:66 → 108

SO; Somatomedin B -like domains

PHA03247
Location:374 → 839

PHA03247; large tegument protein UL36; Provisional

cd00094
Location:1143 → 1403

HX; Hemopexin-like repeats.; Hemopexin is a heme-binding protein that transports heme to the liver. Hemopexin-like repeats occur in vitronectin and some matrix metalloproteinases family (matrixins). The HX repeats of some matrixins bind tissue inhibitor of ...