SIPA1L3 Chromosome 19
Signal induced proliferation associated 1 like 3
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What This Gene Does
This gene belongs to the signal induced proliferation associated 1 family of genes, which encode GTPase-activating proteins specific for the GTP-binding protein Rap1. Rap1 has been implicated in regulation of cell adhesion, cell polarity, and organization of the cytoskeleton. Like other members of the family, the protein encoded by this gene contains RapGAP and PDZ domains. In addition, this protein contains a C-terminal leucine zipper domain. This gene is proposed to function in epithelial cell morphogenesis and establishment or maintenance of polarity. Consistently, expression of the protein in cell culture showed localization to cell-cell borders in apical regions, and downregulation of the gene in 3D Caco2 cell culture resulted in abnormal cell polarity and morphogenesis. Allelic variants of this gene have been associated with congenital cataracts in humans. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
PDZ domain containing
Locus Type
gene with protein product
Location
19q13.13-q13.2
Ensembl
ENSG00000105738
Associated Conditions (1)
Cataract 45
Key Variants
RS141134837
Conflicting classifications of pathogenicity
Health Risk
RS142856094
Conflicting classifications of pathogenicity
Health Risk
RS147598199
Conflicting classifications of pathogenicity
Health Risk
RS201601967
Conflicting classifications of pathogenicity
Health Risk
RS561664381
Conflicting classifications of pathogenicity
Health Risk
RS562186095
Conflicting classifications of pathogenicity
Health Risk
RS766009849
Conflicting classifications of pathogenicity
Health Risk
RS1568573490
Pathogenic
Cataract 45, Cataract 45
Health Risk
RS756898971
Pathogenic
Cataract 45, Cataract 45
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141134837 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142856094 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147598199 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201601967 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS561664381 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS562186095 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS766009849 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1568573490 | Health Risk | Pathogenic | Cataract 45, Cataract 45 |
| RS756898971 | Health Risk | Pathogenic | Cataract 45, Cataract 45 |