SIPA1L1
Homo sapiens
Gene Name: signal induced proliferation associated 1 like 1
Aliases: E6TP1, SPAR1
Chromosome No: 14
Chromosome Band: 14q24.2
Genetic Category: Rare single gene variant-Functional
Aliases: E6TP1, SPAR1
Chromosome No: 14
Chromosome Band: 14q24.2
Genetic Category: Rare single gene variant-Functional
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 2
Evidence score: 3
ASD Reports: 5
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 2
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
SIPA1L1 was identified as an ASD candidate gene in Wilfert et al., 2021 based on the discovery of private likely gene-disruptive (LGD) variants in this highly constrained (pLI 0.99) gene that were exclusively transmitted to three ASD probands in three independent families and its interconnectedness with other ASD candidate genes in protein-protein interaction (PPI) networks in this report.
Molecular Function
Stimulates the GTPase activity of RAP2A. Promotes reorganization of the actin cytoskeleton and recruits DLG4 to F-actin. Contributes to the regulation of dendritic spine morphogenesis.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Recent ultra-rare inherited variants implicate new autism candidate risk genes
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
SIPA1L1/SPAR1 interacts with the neurabin family of proteins and is involved in GPCR signaling
