HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SIPA1L1
signal induced proliferation associated 1 like 1
Chromosome 14 · 14q24.2
NCBI Gene: 26037Ensembl: ENSG00000197555.11HGNC: HGNC:20284UniProt: O43166
89PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membraneactin cytoskeletonprotein bindingephrin receptor signaling pathwayhypertensionheart valve diseaseneurodegenerative diseaseAbruptio Placentae
✦AI Summary

SIPA1L1 (signal induced proliferation associated 1 like 1) is a RapGAP protein that regulates small GTPase signaling and cytoskeletal organization with diverse physiological roles. The protein functions as a GTPase-activating protein that modulates Rap signaling pathways, with CKIε phosphorylating SIPA1L1 to reduce its stability and increase Rap1 activation during Wnt-mediated gastrulation 1. In neuronal contexts, SIPA1L1 is essential for synaptic function and dendritic spine development, as disruption affects neurodevelopmental pathways 2. The protein plays a critical role in renal physiology by binding to aquaporin-2's PDZ-ligand motif and accelerating its endocytosis, with vasopressin-induced phosphorylation disrupting this interaction to regulate water transport 3. SIPA1L1 also contributes to pathological processes, including primary open-angle glaucoma where TGF-β2 increases SIPA1L1 expression, promoting extracellular matrix accumulation in trabecular meshwork cells while inhibiting phagocytosis through actin cytoskeleton reorganization 4. Additionally, circular RNA derived from SIPA1L1 (circSIPA1L1) acts as an oncogenic factor in osteosarcoma, functioning as a microRNA sponge to promote tumor progression 56. These findings establish SIPA1L1 as a multifunctional regulator of cellular signaling, cytoskeletal dynamics, and tissue homeostasis.

Sources cited
1
CKIε phosphorylates SIPA1L1 to reduce its stability and increase Rap1 activation during Wnt-mediated gastrulation
PMID: 17336901
2
SIPA1L1 is essential for synaptic function and dendritic spine development, with disruption affecting neurodevelopmental pathways
PMID: 39536351
3
SIPA1L1 binds to aquaporin-2's PDZ-ligand motif and accelerates its endocytosis, with vasopressin-induced phosphorylation disrupting this interaction
PMID: 28336531
4
TGF-β2 increases SIPA1L1 expression, promoting extracellular matrix accumulation in trabecular meshwork cells while inhibiting phagocytosis
PMID: 39361424
5
Circular RNA circSIPA1L1 is elevated in osteosarcoma and promotes tumor progression via miR-379-5p/MAP3K9 axis
PMID: 32897735
6
circSIPA1L1 functions as a microRNA sponge in osteosarcoma progression through miR-411-5p/RAB9A signaling pathway
PMID: 33968929
Disease Associationsⓘ20
hypertensionOpen Targets
0.44Moderate
heart valve diseaseOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.32Weak
Abruptio PlacentaeOpen Targets
0.32Weak
stomach polypOpen Targets
0.30Weak
gastrointestinal diseaseOpen Targets
0.30Weak
hypertrophic cardiomyopathyOpen Targets
0.30Weak
benign digestive system neoplasmOpen Targets
0.29Weak
ovarian neoplasmOpen Targets
0.28Weak
polyp of large intestineOpen Targets
0.27Weak
pulmonary edemaOpen Targets
0.27Weak
neurotic disorderOpen Targets
0.26Weak
Increased blood pressureOpen Targets
0.26Weak
breast benign neoplasmOpen Targets
0.23Weak
AnxietyOpen Targets
0.20Weak
cardiovascular diseaseOpen Targets
0.19Weak
injuryOpen Targets
0.10Suggestive
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
complicationOpen Targets
0.06Suggestive
trauma complicationOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SHANK3Protein interaction93%RAP1AProtein interaction93%RAP1BProtein interaction92%DLG4Protein interaction91%LZTS1Protein interaction89%LZTS2Protein interaction89%
Tissue Expression6 tissues
Brain
100%
Liver
57%
Lung
44%
Bone Marrow
44%
Ovary
20%
Heart
14%
Gene Interaction Network
Click a node to explore
SIPA1L1SHANK3RAP1ARAP1BDLG4LZTS1LZTS2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O43166
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.23Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.16 [0.12–0.23]
RankingsWhere SIPA1L1 stands among ~20K protein-coding genes
  • #5,379of 20,598
    Most Researched89
  • #611of 17,882
    Most Constrained (LOEUF)0.23 · top 5%
Genes detectedSIPA1L1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Effects of SIPA1L1 on trabecular meshwork extracellular matrix protein accumulation and cellular phagocytosis in POAG.
PMID: 39361424
JCI Insight · 2024
1.00
2
Circ_SIPA1L1 Promotes Osteosarcoma Progression Via miR-379-5p/MAP3K9 Axis.
PMID: 32897735
Cancer Biother Radiopharm · 2023
0.90
3
Sipa1l3/SPAR3 is targeted to postsynaptic specializations and interacts with the Fezzin ProSAPiP1/Lzts3.
PMID: 26364583
J Neurochem · 2016
0.80
4
An Epha4/Sipa1l3/Wnt pathway regulates eye development and lens maturation.
PMID: 27993984
Development · 2017
0.70
5
Embryonic exposure to glycopeptides induces acute toxicity and developmental neurotoxicity in zebrafish (Danio rerio).
PMID: 39536351
J Hazard Mater · 2024
0.60