SPIRE1: Spire-Type Actin Nucleation Factor 1
A key regulator of actin cytoskeleton dynamics and intracellular transport
Gene Information Card
| Symbol | SPIRE1 |
|---|---|
| Full Name | spire-type actin nucleation factor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 18p11.21 |
| NCBI Gene ID | 56907 ncbi.nlm.nih.gov/gene/56907 |
| Ensembl ID | ENSG00000134371 |
| UniProt ID | Q08AE8 |
| OMIM ID | 609384 |
| HGNC ID | 30622 |
| Aliases | KIAA1536, SPIR-1, spir |
Description
SPIRE1 encodes a member of the spire family of actin nucleation factors. The protein contains a KIND (kinase non-catalytic C-lobe domain) and a WH2 (WASP-homology 2) domain, which together nucleate actin filaments. SPIRE1 functions in vesicle transport, organelle positioning, and cell migration by regulating actin polymerization at intracellular membranes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | SPIRE1 overexpression may promote actin-driven invasion and metastasis | COSMIC; PMID: 25691885 |
| Ovarian cancer | Altered SPIRE1 expression linked to cytoskeletal remodeling and tumor progression | COSMIC; PMID: 27107036 |
| Neurodevelopmental disorders | Rare SPIRE1 variants implicated in synaptic actin dynamics | ClinVar; PMID: 30311386 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Ovary | 8.3 | Low |
| Breast | 6.1 | Low |
| Testis | 15.2 | Medium |
| Lung | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 9.8 | Moderate expression |
| SKOV3 (ovarian cancer) | 11.2 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 14.5 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.01% | Potential loss of actin-binding affinity |
| c.567_569del (p.Lys189del) | In-frame deletion | <0.01% | Altered WH2 domain structure |
| c.2101G>A (p.Gly701Arg) | Missense | 0.02% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Missense variants in the KIND or WH2 domains may impair actin nucleation.
Gain of Function (GOF)
Not well documented; overexpression in cancer may enhance motility.
Dominant Negative (DN)
Truncating or deletion variants could interfere with wild-type SPIRE1 function.
View complete mutation data：
Gene Ontology (GO)
| • actin filament polymerization (GO:0030041) | • actin filament binding (GO:0051015) |
| • plasma membrane (GO:0005886) | • cytoplasm (GO:0005737) |
| • actin cortical patch (GO:0030479) |
Pathways
• Actin nucleation by SPIRE complex (Reactome: R-HSA-5663222)
• RHO GTPase effectors on cytoskeleton (Reactome: R-HSA-195258)
Protein Summary
SPIRE1 is a 760-amino-acid protein that nucleates actin filaments via its KIND and WH2 domains. It localizes to intracellular membranes and vesicles, coordinating actin polymerization for organelle transport and cell polarity. The protein interacts with formins and RAB GTPases to regulate cytoskeletal dynamics in neurons and migrating cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPIRE1 Knockout HEK293 Cell Line | EDJ-KQ15488 | Human | 56907 | Details Get a Quote |
| SPIRE1 Knockout A-549 Cell Line | EDJ-KQ46277 | Human | 56907 | Details Get a Quote |
| SPIRE1 Knockout HCT 116 Cell Line | EDJ-KQ46278 | Human | 56907 | Details Get a Quote |
| SPIRE1 Knockout HeLa Cell Line | EDJ-KQ46279 | Human | 56907 | Details Get a Quote |
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