GRIPAP1
GRIP1 Associated Protein 1
Gene Information Card
| Symbol | GRIPAP1 |
|---|---|
| Full Name | GRIP1 Associated Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q31.3 |
| NCBI Gene ID | 56850 ncbi.nlm.nih.gov/gene/56850 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q9H8W4 |
| OMIM ID | 607594 |
| HGNC ID | 18729 |
| Aliases | FLJ11151, KIAA1165, GRASP |
Description
GRIPAP1 (GRIP1 Associated Protein 1) is a protein-coding gene located on chromosome 1q31.3. It encodes a protein that interacts with GRIP1 (glutamate receptor interacting protein 1) and is involved in AMPA receptor trafficking and synaptic plasticity. The gene is expressed in multiple tissues, with highest levels in the brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Altered synaptic AMPA receptor trafficking due to GRIPAP1 dysfunction | ClinVar: association reported in some studies |
| Intellectual disability | Potential disruption of GRIP1-mediated signaling | ClinVar: limited evidence |
| Schizophrenia | Possible role in glutamatergic signaling | ClinVar: no direct association confirmed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Heart | 5.1 | Low |
| Liver | 2.0 | Not detected |
| Kidney | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuronal cell line |
| HEK293 | 6.8 | Embryonic kidney cells |
| HeLa | 4.5 | Cervical cancer cells |
| U87MG | 9.1 | Glioblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% | Unknown functional effect |
| c.567delA (p.Glu189fs) | Frameshift | 0.001% | Predicted loss of function |
| c.890G>A (p.Arg297Gln) | Missense | 0.005% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.567delA) are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005737 (GO:0005737) | • GO:0005886 (GO:0005886) |
| • GO:0030424 (GO:0030424) | • GO:0045202 (GO:0045202) |
| • GO:0007268 (GO:0007268) |
Pathways
• Glutamatergic synapse
• AMPA receptor trafficking
• Long-term potentiation
Protein Summary
GRIPAP1 encodes a 754-amino acid protein that contains a coiled-coil domain and interacts with GRIP1. It is localized to the cytoplasm and postsynaptic density, and is involved in AMPA receptor clustering and synaptic transmission. The protein is highly expressed in brain regions associated with learning and memory.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GRIPAP1 Knockout HEK293 Cell Line | EDJ-KQ1049 | Human | 56850 | Details Get a Quote |
| GRIPAP1 Knockout A-549 Cell Line | EDJ-KQ20163 | Human | 56850 | Details Get a Quote |
| GRIPAP1 Knockout HCT 116 Cell Line | EDJ-KQ20164 | Human | 56850 | Details Get a Quote |
| GRIPAP1 Knockout HeLa Cell Line | EDJ-KQ20165 | Human | 56850 | Details Get a Quote |
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