Proteoglycan 4 (PRG4)
The protein contains 1404 amino acids for an estimated molecular weight of 151061 Da.
Plays a role in boundary lubrication within articulating joints. Prevents protein deposition onto cartilage from synovial fluid by controlling adhesion-dependent synovial growth and inhibiting the adhesion of synovial cells to the cartilage surface.', 'Isoform F plays a role as a growth factor acting on the primitive cells of both hematopoietic and endothelial cell lineages. (updated: Oct. 10, 2018)
Protein identification was indicated in the following studies:
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
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| Variant | Description |
|---|---|
| dbSNP:rs2273779 | |
| dbSNP:rs10158395 | |
| dbSNP:rs1293985 | |
| dbSNP:rs12134934 |
No binding partner found
The reference OMIM entry for this protein is 208250
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome; cacp
Arthropathy-camptodactyly syndrome
Hypertrophic synovitis, congenital familial
Jacobs syndrome
Fibrosing serositis, familial
Pericarditis-arthropathy-camptodactyly syndrome
P
A number sign (#) is used with this entry because of evidence that the camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) can be caused by homozygous mutation in the proteoglycan-4 gene (PRG4; 604283) on chromosome 1q31.
DESCRIPTION
The camptodactyly-arthropathy-coxa vara-pericarditis syndrome is an autosomal recessive condition characterized by the association of congenital or early-onset camptodactyly and noninflammatory arthropathy with synovial hyperplasia. Progressive coxa vara deformity and/or noninflammatory pericardial or pleural effusions are found in some patients (summary by Faivre et al., 2000).CLINICAL FEATURES
Jacobs and Downey (1974) and Jacobs et al. (1976) described in brief a familial arthropathy associated with congenital flexion contractures of the fingers and characteristic changes on synovial biopsy. They called it 'E family arthritis,' or 'congenital familial hypertrophic synovitis.' They studied 4 cases from 2 families. Jacobs' first family was American black and the second Pakistani (Jacobs, 1981). Athreya and Schumacher (1978) reported the condition in the first, third, and fifth sibs of a 5-sib family born to parents who were not known to be related, but came from the same small village in Ireland. The first sib, a girl aged 16 at study, was born with flexion deformity of the right middle finger and developed polyarticular large joint arthritis in early infancy. The finger straightened spontaneously as she got older. The second affected sib, a boy aged 14, had flexion deformity of the thumb at birth which was corrected surgically. He also had symmetric swelling of multiple large joints with normal sedimentation rate. He had synovectomy of both hip joints at age 6. The youngest affected sib, a girl aged 4, was born with a flexed right middle finger. At age 2, she developed painless swelling of both knees and 2 years later of both ankles. She complained intermittently of hip pain and had generalized morning stiffness. Histologically, the synovium showed hyperplasia, necrotic villi, deposition of eosinophilic and PAS-positive material, and many multinucleate giant cells. Ochi et al. (1983) reported 2 sisters in whom several tenosynovectomies of the hands and synovectomy of the knee joints were performed to maintain mobility of affected joints. Abnormalities in tendons were restricted to the tenosynovium, with secondary involvement of tendons which in late stages were replaced by fibrous tissue. They suggested that the disorder is the result of an intrauterine tenosynovitis. In Newfoundland, Martin et al. (1985) observed an affected brother and sister and 2 other unrelated patients. Flexion contractures of the fingers were present at birth. There was synovial cell hyperplasia and giant cells but no inflammatory process. X-rays showed flattening of the metacarpal and metatarsal heads and the proximal femoral ossification centers. In the oldest patient the process had subsided, leaving slight contractures but severe impairment of hip mobility. It is likely that the familial syndrome of arthropathy, camptodactyly and pericarditis is the same disorder. Martinez-Lavin et al. (1983) described a family from a small village in southern Mexico in which 5 of 7 sibs had constrictive pericarditis in association with arthritis of large joints and flexion contracture of the fingers. Parental consanguinity was denied, but the parents shared the haplotype A1-Bw21. The proband was well until ag ... More on the omim web site
Oct. 20, 2018: Protein entry updated
Automatic update: OMIM entry 208250 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).