FILIP1 Gene - Filamin A Interacting Protein 1
Comprehensive genomic and functional analysis of FILIP1
Gene Information Card
| Symbol | FILIP1 |
|---|---|
| Full Name | Filamin A Interacting Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q14.1 |
| NCBI Gene ID | 27145 ncbi.nlm.nih.gov/gene/27145 |
| Ensembl ID | ENSG00000118526 |
| UniProt ID | Q7Z7B0 |
| OMIM ID | 612993 |
| HGNC ID | 25889 |
| Aliases | FILIP, KIAA1275 |
Description
FILIP1 (Filamin A Interacting Protein 1) is a protein-coding gene located on chromosome 6q14.1. It encodes a protein that interacts with filamin A, a cytoskeletal protein involved in actin cross-linking and cell signaling. FILIP1 is implicated in neuronal development, cell migration, and potentially in cancer progression. The gene is expressed in multiple tissues, with notable levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disruption of FILIP1 may impair filamin A-mediated neuronal migration and synaptic function, leading to cognitive deficits. | ClinVar, OMIM |
| Autism spectrum disorder | Rare variants in FILIP1 have been associated with ASD, possibly through altered cytoskeletal dynamics in neurons. | ClinVar, OMIM |
| Cancer (various) | FILIP1 overexpression or mutation may influence cell migration and invasion via filamin A interaction, contributing to tumor progression. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 4.1 | Low |
| Liver | 2.0 | Not detected |
| Kidney | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.2 | Low expression |
| SH-SY5Y | 15.1 | Medium expression |
| HeLa | 4.8 | Low expression |
| A549 | 3.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; predicted to cause nonsense-mediated decay |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function; truncation |
| c.890A>G (p.Tyr297Cys) | Missense | <0.01% | Unknown significance; may affect protein interaction |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) are predicted to result in loss of function through premature termination and nonsense-mediated decay.
Gain of Function (GOF)
No gain-of-function mutations have been reported for FILIP1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for FILIP1.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cytoskeleton (GO:0005856) | • actin cytoskeleton organization (GO:0030036) |
| • synapse (GO:0045202) |
Pathways
• Filamin A interaction pathway
• Actin cytoskeleton regulation
• Neuronal development and migration
Protein Summary
The FILIP1 protein is a 1,275-amino-acid polypeptide that interacts with filamin A, modulating actin cytoskeleton dynamics. It is involved in cell migration, neurite outgrowth, and synaptic function. The protein is localized in the cytoplasm and at the cell cortex, where it may regulate filamin A's role in signal transduction and structural integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FILIP1L Knockout HEK293 Cell Line | EDJ-KQ7358 | Human | 11259 | Details Get a Quote |
| FILIP1 Knockout HEK293 Cell Line | EDJ-KQ8695 | Human | 27145 | Details Get a Quote |
| FILIP1 Knockout A-549 Cell Line | EDJ-KQ34911 | Human | 27145 | Details Get a Quote |
| FILIP1L Knockout HeLa Cell Line | EDJ-KQ55616 | Human | 11259 | Details Get a Quote |
| FILIP1 Knockout HeLa Cell Line | EDJ-KQ56014 | Human | 27145 | Details Get a Quote |
| FILIP1L Knockout A-549 Cell Line | EDJ-KQ64115 | Human | 11259 | Details Get a Quote |
| FILIP1L Knockout HCT 116 Cell Line | EDJ-KQ72560 | Human | 11259 | Details Get a Quote |
| FILIP1 Knockout HCT 116 Cell Line | EDJ-KQ72958 | Human | 27145 | Details Get a Quote |
