ADAP1: ArfGAP with Dual PH Domains 1
A key regulator of ARF GTPase signaling and neuronal development
Gene Information Card
| Symbol | ADAP1 |
|---|---|
| Full Name | ArfGAP with Dual PH Domains 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p22.3 |
| NCBI Gene ID | 11033 ncbi.nlm.nih.gov/gene/11033 |
| Ensembl ID | ENSG00000105974 |
| UniProt ID | O75689 |
| OMIM ID | 608114 |
| HGNC ID | 16480 |
| Aliases | CENTA1, GCS1L, p42IP4, centaurin-alpha-1 |
Description
ADAP1 (ArfGAP with Dual PH Domains 1) encodes a protein that functions as a GTPase-activating protein (GAP) for ADP-ribosylation factor (ARF) family members. It contains two pleckstrin homology (PH) domains and an ArfGAP domain. The protein is involved in vesicle trafficking, cytoskeletal organization, and neuronal signaling. It is highly expressed in the brain and plays a role in dendritic spine morphogenesis and synaptic plasticity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder | ADAP1 mutations may disrupt ARF GTPase signaling, impairing neuronal migration and synapse formation | ClinVar |
| Breast cancer | Overexpression of ADAP1 has been reported, potentially promoting cell proliferation via ARF6 activation | COSMIC, NCBI Gene |
| Glioblastoma | ADAP1 expression is altered in glioblastoma, affecting tumor cell invasion and ARF6-mediated signaling | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 48.2 | High |
| Testis | 12.5 | Medium |
| Lung | 6.8 | Low |
| Liver | 2.1 | Not detected |
| Heart | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 35.1 | High expression; used in neuronal studies |
| HEK293 (embryonic kidney) | 8.2 | Moderate expression |
| HeLa (cervical carcinoma) | 5.6 | Low expression |
| A549 (lung carcinoma) | 4.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497G>A (p.Arg166Gln) | Missense | Rare | Potential loss of GAP activity; associated with neurodevelopmental delay |
| c.1042C>T (p.Arg348Trp) | Missense | Rare | Unknown functional effect; reported in ClinVar |
| c.1234_1235insA (p.Thr412Asnfs*5) | Frameshift | Very rare | Predicted loss of function; truncation of C-terminal PH domain |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, particularly affecting the ArfGAP domain or PH domains, are predicted to cause loss of function.
Gain of Function (GOF)
No confirmed gain-of-function mutations have been reported for ADAP1.
Dominant Negative (DN)
Missense mutations in the ArfGAP domain may act in a dominant-negative manner by binding ARF but failing to catalyze GTP hydrolysis.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ARF6 signaling pathway
• Vesicle-mediated transport
• Phosphoinositide signaling
Protein Summary
The ADAP1 protein (centaurin-alpha-1) is a 412-amino acid protein with two PH domains and an ArfGAP domain. It binds phosphatidylinositol (3,4,5)-trisphosphate and inositol 1,3,4,5-tetrakisphosphate, localizing to the plasma membrane and endosomes. It inactivates ARF1 and ARF6 by stimulating GTP hydrolysis, thereby regulating endocytosis, actin remodeling, and neurite outgrowth. The protein is predominantly expressed in the brain and is essential for normal neuronal function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAP1 Knockout HEK293 Cell Line | EDJ-KQ7255 | Human | 11033 | Details Get a Quote |
| ADAP1 Knockout A-549 Cell Line | EDJ-KQ32255 | Human | 11033 | Details Get a Quote |
| ADAP1 Knockout HCT 116 Cell Line | EDJ-KQ32256 | Human | 11033 | Details Get a Quote |
| ADAP1 Knockout HeLa Cell Line | EDJ-KQ32257 | Human | 11033 | Details Get a Quote |
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