RPSA Chromosome 3
Ribosomal protein SA
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What This Gene Does
Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Many of the effects of laminin are mediated through interactions with cell surface receptors. These receptors include members of the integrin family, as well as non-integrin laminin-binding proteins. This gene encodes a high-affinity, non-integrin family, laminin receptor 1. This receptor has been variously called 67 kD laminin receptor, 37 kD laminin receptor precursor (37LRP) and p40 ribosome-associated protein. The amino acid sequence of laminin receptor 1 is highly conserved through evolution, suggesting a key biological function. It has been observed that the level of the laminin receptor transcript is higher in colon carcinoma tissue and lung cancer cell line than their normal counterparts. Also, there is a correlation between the upregulation of this polypeptide in cancer cells and their invasive and metastatic phenotype. Multiple copies of this gene exist, however, most of them are pseudogenes thought to have arisen from retropositional events. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"S ribosomal proteins|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
3p22.1
Ensembl
ENSG00000168028
Associated Conditions (1)
Familial isolated congenital asplenia
Key Variants
RS754699583
Conflicting classifications of pathogenicity
Familial isolated congenital asplenia, Familial isolated congenital asplenia
Health Risk
RS397514761
Likely pathogenic
Familial isolated congenital asplenia, Familial isolated congenital asplenia
Health Risk
RS397514759
Pathogenic
Familial isolated congenital asplenia, Familial isolated congenital asplenia
Health Risk
RS397514760
Pathogenic
Familial isolated congenital asplenia, Familial isolated congenital asplenia, Familial isolated congenital asplenia
Health Risk
RS397514762
Pathogenic
Familial isolated congenital asplenia, Familial isolated congenital asplenia
Health Risk
RS397514763
Pathogenic
Familial isolated congenital asplenia, Familial isolated congenital asplenia
Health Risk
RS398122389
Pathogenic
Familial isolated congenital asplenia, Familial isolated congenital asplenia
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS754699583 | Health Risk | Conflicting classifications of pathogenicity | Familial isolated congenital asplenia, Familial isolated congenital asplenia |
| RS397514761 | Health Risk | Likely pathogenic | Familial isolated congenital asplenia, Familial isolated congenital asplenia |
| RS397514759 | Health Risk | Pathogenic | Familial isolated congenital asplenia, Familial isolated congenital asplenia |
| RS397514760 | Health Risk | Pathogenic | Familial isolated congenital asplenia, Familial isolated congenital asplenia, Familial isolated congenital asplenia |
| RS397514762 | Health Risk | Pathogenic | Familial isolated congenital asplenia, Familial isolated congenital asplenia |
| RS397514763 | Health Risk | Pathogenic | Familial isolated congenital asplenia, Familial isolated congenital asplenia |
| RS398122389 | Health Risk | Pathogenic | Familial isolated congenital asplenia, Familial isolated congenital asplenia |