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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SPTA1
spectrin alpha, erythrocytic 1
Chromosome 1 Β· 1q23.1
NCBI Gene: 6708Ensembl: ENSG00000163554.15HGNC: HGNC:11272UniProt: P02549
165PubMed Papers
23Diseases
0Drugs
210Pathogenic Variants
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingspectrin-associated cytoskeletonplasma membraneactin filament bindingelliptocytosis 2Pyropoikilocytosishereditary spherocytosis type 3pyropoikilocytosis, hereditary
✦AI Summary

SPTA1 encodes alpha-spectrin, the major cytoskeletal protein of the erythrocyte plasma membrane that associates with band 4.1 and actin to form the membrane's structural superstructure 1. This protein is essential for red blood cell (RBC) membrane stability and deformability by establishing horizontal linkage between the RBC membrane and cytoskeletal proteins 2. Pathogenic SPTA1 variants cause hereditary red blood cell membrane disorders, primarily hereditary spherocytosis (HS), hereditary elliptocytosis (HE), and hereditary pyropoikilocytosis (HPP) 123. Autosomal recessive SPTA1 mutations produce the most severe HS phenotype, with nearly all affected patients requiring splenectomy in early childhood 1. Disease severity correlates with the level of alpha-spectrin protein in RBC cytoskeletons; near-complete deficiency results in transfusion-dependent anemia, potentially fatal hydrops fetalis, and poor response to splenectomy 4. In contrast, monoallelic mutations typically cause milder HE presentations 2. Beyond erythroid function, SPTA1 regulates cellular processes in non-hematologic tissues. In corpus cavernosum cells, SPTA1 downregulation mediates high-fat diet-induced erectile dysfunction through the Hippo signaling pathway, triggering cell pyroptosis 5. Additionally, SPTA1 has been implicated in lung neuroendocrine tumor pathogenesis 6.

Sources cited
1
SPTA1 mutations cause hereditary spherocytosis; autosomal recessive SPTA1-HS shows the most severe clinical phenotype with high splenectomy rates in childhood
PMID: 32436265
2
SPTA1 defects cause hereditary elliptocytosis and hereditary pyropoikilocytosis through impaired horizontal linkage between RBC membrane and cytoskeletal proteins; monoallelic mutations cause HE while biallelic mutations cause HPP
PMID: 35961434
3
SPTA1 mutations identified in hereditary elliptocytosis cases; novel SPTA1 variant c.86A>C reported in Taiwanese patient
PMID: 36705355
4
Disease severity in SPTA1-associated HS correlates with alpha-spectrin protein levels; near-complete deficiency causes transfusion-dependent anemia and poor response to splenectomy
PMID: 31333484
5
SPTA1 downregulation in high-fat diet conditions mediates erectile dysfunction through Hippo signaling pathway activation, triggering cell pyroptosis in corpus cavernosum cells
PMID: 36374586
6
SPTA1 mutations identified as potential genetic alterations in lung neuroendocrine tumors associated with Notch and Wnt signaling pathways
PMID: 40361150
Disease Associationsβ“˜23
elliptocytosis 2Open Targets
0.82Strong
PyropoikilocytosisOpen Targets
0.74Strong
hereditary spherocytosis type 3Open Targets
0.74Strong
pyropoikilocytosis, hereditaryOpen Targets
0.69Moderate
hereditary spherocytosisOpen Targets
0.66Moderate
Congenital hemolytic anemiaOpen Targets
0.48Moderate
hemolytic anemiaOpen Targets
0.43Moderate
hereditary elliptocytosisOpen Targets
0.43Moderate
familial hemolytic anemiaOpen Targets
0.42Moderate
SpherocytosisOpen Targets
0.41Moderate
Decreased total leukocyte countOpen Targets
0.33Weak
lysinuric protein intoleranceOpen Targets
0.28Weak
neutropeniaOpen Targets
0.27Weak
Abnormality of blood and blood-forming tissuesOpen Targets
0.27Weak
juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeOpen Targets
0.27Weak
anemiaOpen Targets
0.26Weak
lung diseaseOpen Targets
0.24Weak
recessive spherocytosisOpen Targets
0.19Weak
diabetes mellitusOpen Targets
0.14Weak
genetic disorderOpen Targets
0.12Weak
Elliptocytosis 2UniProt
Hereditary pyropoikilocytosisUniProt
Spherocytosis 3UniProt
Pathogenic Variants210
NM_003126.4(SPTA1):c.4975C>T (p.Arg1659Ter)Pathogenic
Pyropoikilocytosis, hereditary|not provided|Hereditary spherocytosis type 3;Elliptocytosis 2;Pyropoikilocytosis, hereditary
β˜…β˜…β˜†β˜†2026β†’ Residue 1659
NM_003126.4(SPTA1):c.2659C>T (p.Arg887Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 887
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro)Pathogenic
Elliptocytosis 2|not provided|Spherocytosis
β˜…β˜…β˜†β˜†2026β†’ Residue 260
NM_003126.4(SPTA1):c.802C>T (p.Arg268Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 268
NM_003126.4(SPTA1):c.4339-99C>TPathogenic
not provided|Hereditary spherocytosis|Hereditary spherocytosis type 3|Elliptocytosis 2|Pyropoikilocytosis, hereditary|Pyropoikilocytosis, hereditary;Hereditary spherocytosis type 3;Elliptocytosis 2|SPTA1-related disorder|Autosomal recessive SPTA1-related disorders
β˜…β˜…β˜†β˜†2025
NM_003126.4(SPTA1):c.390+1G>ALikely pathogenic
not provided
β˜…β˜…β˜†β˜†2025
NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys)Pathogenic
Elliptocytosis 2|Pyropoikilocytosis, hereditary|not provided|SPTA1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 28
NM_003126.4(SPTA1):c.1273C>T (p.Arg425Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 425
NM_003126.4(SPTA1):c.2671C>T (p.Arg891Ter)Pathogenic
not provided|Hereditary spherocytosis type 3
β˜…β˜…β˜†β˜†2025β†’ Residue 891
NM_003126.4(SPTA1):c.6788+1G>APathogenic
not provided
β˜…β˜…β˜†β˜†2025
NM_003126.4(SPTA1):c.4651C>T (p.Arg1551Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1551
NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu)Pathogenic
Elliptocytosis 2|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 28
NM_003126.4(SPTA1):c.83G>A (p.Arg28His)Pathogenic
Elliptocytosis 2|Pyropoikilocytosis, hereditary|not provided|Prenatal anemia|SPTA1-related disorder|Hereditary spherocytosis type 3
β˜…β˜…β˜†β˜†2025β†’ Residue 28
NM_003126.4(SPTA1):c.3823C>T (p.Gln1275Ter)Pathogenic
not provided|SPTA1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 1275
NM_003126.4(SPTA1):c.2806-13T>GPathogenic
Pyropoikilocytosis, hereditary|not provided
β˜…β˜…β˜†β˜†2025
NM_003126.4(SPTA1):c.531+1G>APathogenic
not provided
β˜…β˜…β˜†β˜†2025
NM_003126.4(SPTA1):c.3139C>T (p.Arg1047Ter)Pathogenic
not provided|Hereditary spherocytosis type 3
β˜…β˜…β˜†β˜†2025β†’ Residue 1047
NM_003126.4(SPTA1):c.178C>T (p.Arg60Ter)Pathogenic
not provided|SPTA1-related disorder|Hereditary spherocytosis type 3;Elliptocytosis 2;Pyropoikilocytosis, hereditary
β˜…β˜…β˜†β˜†2025β†’ Residue 60
NM_003126.4(SPTA1):c.3667C>T (p.Arg1223Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1223
NM_003126.4(SPTA1):c.2353C>T (p.Arg785Ter)Pathogenic
Hemolytic anemia|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 785
View on ClinVar β†—
Related Genes
SPTBN4Protein interaction97%SPTBN1Protein interaction97%SPTBN5Protein interaction96%EPB41L2Protein interaction96%SPTAN1Protein interaction91%ANK1Protein interaction87%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
0%
Liver
0%
Ovary
0%
Brain
0%
Heart
0%
Gene Interaction Network
Click a node to explore
SPTA1SPTBN4SPTBN1SPTBN5EPB41L2SPTAN1ANK1
PROTEIN STRUCTURE
Preparing viewer…
PDB5J4O Β· 1.54 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.59Moderately Constrained
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.52 [0.46–0.59]
RankingsWhere SPTA1 stands among ~20K protein-coding genes
  • #2,719of 20,598
    Most Researched165 Β· top quartile
  • #313of 5,498
    Most Pathogenic Variants210 Β· top 10%
  • #4,006of 17,882
    Most Constrained (LOEUF)0.59 Β· top quartile
Genes detectedSPTA1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Genotype-phenotype correlation in children with hereditary spherocytosis.
PMID: 32436265
Br J Haematol Β· 2020
1.00
2
Heterozygous variants in SPTBN1 cause intellectual disability and autism.
PMID: 33847457
Am J Med Genet A Β· 2021
0.90
3
Unravelling the genetic and phenotypic heterogeneity of SPTA1 gene variants in Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis patients using next-generation sequencing.
PMID: 35961434
Gene Β· 2022
0.80
4
Hereditary spherocytosis overlooked for 7 years in a pediatric patient with Ξ²-thalassemia trait and novel compound heterozygous mutations of SPTA1 gene.
PMID: 33210974
Hematology Β· 2020
0.72
5
A large family of hereditary spherocytosis and a rare case of hereditary elliptocytosis with a novel SPTA1 mutation underdiagnosed in Taiwan: A case report and literature review.
PMID: 36705355
Medicine (Baltimore) Β· 2023
0.70