SPTA1
Spectrin Alpha, Erythrocytic 1
Gene Information Card
| Symbol | SPTA1 |
|---|---|
| Full Name | Spectrin Alpha, Erythrocytic 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.1 |
| NCBI Gene ID | 6708 ncbi.nlm.nih.gov/gene/6708 |
| Ensembl ID | ENSG00000130635 |
| UniProt ID | P02549 |
| OMIM ID | 182860 |
| HGNC ID | 11273 |
| Aliases | EL2, SPTA, alpha-spectrin, erythroid spectrin alpha chain |
Description
SPTA1 encodes the alpha subunit of erythroid spectrin, a major component of the red blood cell membrane cytoskeleton. Spectrin forms a heterotetramer with beta-spectrin (SPTB) and provides structural integrity and deformability to erythrocytes. Mutations in SPTA1 are associated with hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Elliptocytosis | Mutations in SPTA1 disrupt spectrin dimer self-association, weakening the membrane skeleton and causing elliptocyte formation. | ClinVar, OMIM |
| Hereditary Pyropoikilocytosis | Biallelic or compound heterozygous SPTA1 mutations lead to severe spectrin deficiency, resulting in fragmented, poikilocytic red cells. | ClinVar, OMIM |
| Spherocytosis, Type 3 | Rare SPTA1 variants can cause hereditary spherocytosis due to impaired spectrin-ankyrin binding. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 68.5 | High |
| Bone marrow | 12.3 | Medium |
| Spleen | 5.1 | Low |
| Other tissues | <1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Erythroleukemia K562 | 45.2 | High expression; erythroid lineage |
| Lymphoblastoid GM12878 | 0.8 | Low expression |
| HeLa | 0.2 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.653C>T (p.Pro218Leu) | Missense | Common in HE | Disrupts spectrin dimer self-association |
| c.5572C>T (p.Arg1858Trp) | Missense | Rare in HPP | Impairs spectrin tetramer formation |
| c.6154delG (p.Val2052fs) | Frameshift | Very rare | Loss of function; severe spectrin deficiency |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated or absent alpha-spectrin, causing severe membrane instability.
Gain of Function (GOF)
Not reported for SPTA1.
Dominant Negative (DN)
Missense mutations in the self-association domain produce mutant spectrin that interferes with normal tetramer assembly, causing dominant HE.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of cytoskeleton | • actin binding |
| • spectrin binding | • cytoskeleton organization |
| • erythrocyte development |
Pathways
• Erythrocyte membrane skeleton (Reactome: R-HSA-5621480)
• Spectrin tetramerization (Reactome: R-HSA-5621481)
Protein Summary
Alpha-spectrin (SPTA1) is a 2419-amino-acid protein that forms antiparallel heterodimers with beta-spectrin. These dimers self-associate head-to-head to form tetramers, which crosslink actin filaments and anchor the membrane skeleton via ankyrin. The protein contains multiple spectrin repeats, an SH3 domain, and a calmodulin-binding domain. Defects in SPTA1 compromise red cell deformability and survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPTA1 Knockout HEK293 Cell Line | EDJ-KQ15500 | Human | 6708 | Details Get a Quote |
| SPTA1 Knockout HeLa Cell Line | EDJ-KQ54559 | Human | 6708 | Details Get a Quote |
| SPTA1 Knockout A-549 Cell Line | EDJ-KQ63043 | Human | 6708 | Details Get a Quote |
| SPTA1 Knockout HCT 116 Cell Line | EDJ-KQ71519 | Human | 6708 | Details Get a Quote |
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