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Aliases for SPTA1 Gene

Aliases for SPTA1 Gene

  • Spectrin Alpha, Erythrocytic 1 2 3 5
  • Erythroid Alpha-Spectrin 3 4
  • Elliptocytosis 2 2 3
  • SPTA 3 4
  • Spectrin, Alpha, Erythrocytic 1 (Elliptocytosis 2) 2
  • Spectrin Alpha Chain, Erythrocytic 1 3
  • Spectrin Alpha Chain, Erythrocyte 3
  • Mutant Alpha Spectrin 3
  • Alpha-I Spectrin 3
  • SPH3 3
  • HPP 3
  • EL2 3
  • HS3 3

External Ids for SPTA1 Gene

Previous GeneCards Identifiers for SPTA1 Gene

  • GC01M156372
  • GC01M154312
  • GC01M155358
  • GC01M155797
  • GC01M155393
  • GC01M156846
  • GC01M129938

Summaries for SPTA1 Gene

Entrez Gene Summary for SPTA1 Gene

  • Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is a tetramer made up of alpha-beta dimers linked in a head-to-head arrangement. This gene is one member of a family of alpha-spectrin genes. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms weaker tetramer interactions than non-erythrocytic alpha spectrin, which may increase the plasma membrane elasticity and deformability of red blood cells. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia. [provided by RefSeq, Jul 2008]

GeneCards Summary for SPTA1 Gene

SPTA1 (Spectrin Alpha, Erythrocytic 1) is a Protein Coding gene. Diseases associated with SPTA1 include Elliptocytosis-2 and Pyropoikilocytosis. Among its related pathways are RET signaling and Innate Immune System. GO annotations related to this gene include calcium ion binding and actin filament binding. An important paralog of this gene is SPTAN1.

UniProtKB/Swiss-Prot for SPTA1 Gene

  • Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane.

Gene Wiki entry for SPTA1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPTA1 Gene

Genomics for SPTA1 Gene

Regulatory Elements for SPTA1 Gene

Enhancers for SPTA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G158689 0.7 FANTOM5 48.8 -2.6 -2567 0.1 SMARCE1 RNF2 MTA2 TAL1 DPF2 FOXM1 TCF12 ARID1B NFIC NCOR1 SPTA1 OR6N1 OR6K3 OR10K1 OR10Z1 OR6K1P
GH01G158654 0.7 Ensembl ENCODE 45.9 +31.8 31778 0.8 GATA2 REST FOS SPTA1 OR6K2 OR6N1 OR6P1 OR6K6 OR10Z1
GH01G158358 0.5 dbSUPER 13.7 +327.1 327060 2.6 CTCF ZNF143 TRIM22 RAD21 SPTA1 OR10T2 CD1B CD1C OR10R2 CD1E
GH01G158793 0.5 dbSUPER 10.7 -108.9 -108915 4.0 CTCF SMC3 REST RAD21 SNRNP70 OR6N1 SPTA1 OR6K6 OR6K2 OR10X1 OR2AQ1P OR6N2
GH01G158493 0.3 FANTOM5 7 +193.5 193495 0.4 CD1E SPTA1 OR6N1 CD1B OR10T2 ENSG00000236656 OR10R3P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPTA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SPTA1 Gene

158,610,498 bp from pter
158,686,716 bp from pter
76,219 bases
Minus strand

Genomic View for SPTA1 Gene

Genes around SPTA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPTA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPTA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPTA1 Gene

Proteins for SPTA1 Gene

  • Protein details for SPTA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Spectrin alpha chain, erythrocytic 1
    Protein Accession:
    Secondary Accessions:
    • Q15514
    • Q5VYL1
    • Q5VYL2
    • Q6LDY5

    Protein attributes for SPTA1 Gene

    2419 amino acids
    Molecular mass:
    280014 Da
    Quaternary structure:
    • Composed of non-homologous chains, alpha and beta, which aggregate side-to-side in an antiparallel fashion to form dimers, tetramers, and higher polymers. Interacts with FASLG.
    • This complex is anchored to the cytoplasmic face of the plasma membrane via another protein, ankyrin, which binds to beta-spectrin and mediates the binding of the whole complex to a transmembrane protein band 3. The interaction of erythrocyte spectrin with other proteins through specific binding domains lead to the formation of an extensive subplasmalemmal meshwork which is thought to be responsible for the maintenance of the biconcave shape of human erythrocytes, for the regulation of plasma membrane components and for the maintenance of the lipid asymmetry of the plasma membrane.

    Three dimensional structures from OCA and Proteopedia for SPTA1 Gene

    Alternative splice isoforms for SPTA1 Gene


neXtProt entry for SPTA1 Gene

Post-translational modifications for SPTA1 Gene

  • Ubiquitination at isoforms=21803
  • Modification sites at PhosphoSitePlus

Other Protein References for SPTA1 Gene

No data available for DME Specific Peptides for SPTA1 Gene

Domains & Families for SPTA1 Gene

Gene Families for SPTA1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the spectrin family.
  • Belongs to the spectrin family.
genes like me logo Genes that share domains with SPTA1: view

Function for SPTA1 Gene

Molecular function for SPTA1 Gene

GENATLAS Biochemistry:
spectrin,alpha,erythrocytic 1,intermediate filament associated protein (IFAP,type III),dimerizing and heteropolymerizing components of the core structure of the membrane skeleton
UniProtKB/Swiss-Prot Function:
Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane.

Gene Ontology (GO) - Molecular Function for SPTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005200 structural constituent of cytoskeleton TAS 1634521
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 9593709
genes like me logo Genes that share ontologies with SPTA1: view
genes like me logo Genes that share phenotypes with SPTA1: view

Human Phenotype Ontology for SPTA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SPTA1 Gene

Localization for SPTA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPTA1 Gene

Cytoplasm, cytoskeleton. Cytoplasm, cell cortex.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPTA1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
extracellular 2
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SPTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005938 cell cortex IEA --
GO:0008091 spectrin IEA,TAS --
genes like me logo Genes that share ontologies with SPTA1: view

Pathways & Interactions for SPTA1 Gene

SuperPathways for SPTA1 Gene

SuperPathway Contained pathways
1 RET signaling
2 Transport to the Golgi and subsequent modification
3 Sertoli-Sertoli Cell Junction Dynamics
4 Developmental Biology
5 Cytokine Signaling in Immune system
genes like me logo Genes that share pathways with SPTA1: view

Pathways by source for SPTA1 Gene

Gene Ontology (GO) - Biological Process for SPTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0002260 lymphocyte homeostasis IEA --
GO:0006779 porphyrin-containing compound biosynthetic process IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007009 plasma membrane organization IEA --
genes like me logo Genes that share ontologies with SPTA1: view

No data available for SIGNOR curated interactions for SPTA1 Gene

Drugs & Compounds for SPTA1 Gene

(1) Drugs for SPTA1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SPTA1: view

Transcripts for SPTA1 Gene

Unigene Clusters for SPTA1 Gene

Spectrin, alpha, erythrocytic 1 (elliptocytosis 2):
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPTA1 Gene

No ASD Table

Relevant External Links for SPTA1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SPTA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPTA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPTA1 Gene

This gene is overexpressed in Whole Blood (x26.7), Spleen (x7.0), and Testis (x4.9).

Protein differential expression in normal tissues from HIPED for SPTA1 Gene

This gene is overexpressed in Neutrophil (34.5) and Lavage (20.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SPTA1 Gene

Protein tissue co-expression partners for SPTA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SPTA1 Gene:


SOURCE GeneReport for Unigene cluster for SPTA1 Gene:


Evidence on tissue expression from TISSUES for SPTA1 Gene

  • Blood(5)
  • Liver(5)
  • Lung(5)
  • Kidney(3.7)
  • Heart(3.4)
  • Bone marrow(3.3)
  • Adrenal gland(2.9)
  • Pancreas(2.3)
  • Intestine(2.1)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SPTA1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • head
  • mouth
  • heart
  • abdominal wall
  • biliary tract
  • gallbladder
  • liver
  • pancreas
  • spleen
  • penis
  • blood
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with SPTA1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for SPTA1 Gene

Orthologs for SPTA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SPTA1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SPTA1 34 35
  • 98.61 (n)
(Bos Taurus)
Mammalia SPTA1 34 35
  • 83.95 (n)
(Canis familiaris)
Mammalia SPTA1 34 35
  • 82.22 (n)
(Rattus norvegicus)
Mammalia Spta1 34
  • 81.97 (n)
(Mus musculus)
Mammalia Spta1 34 16 35
  • 81.89 (n)
(Monodelphis domestica)
Mammalia SPTA1 35
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia SPTA1 35
  • 68 (a)
(Anolis carolinensis)
Reptilia -- 35
  • 12 (a)
(Danio rerio)
Actinopterygii syne1a 35
  • 5 (a)
(Caenorhabditis elegans)
Secernentea C50C3.2 36
  • 18 (a)
Species where no ortholog for SPTA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SPTA1 Gene

Gene Tree for SPTA1 (if available)
Gene Tree for SPTA1 (if available)

Paralogs for SPTA1 Gene

(6) SIMAP similar genes for SPTA1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SPTA1: view

Variants for SPTA1 Gene

Sequence variations from dbSNP and Humsavar for SPTA1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs121918634 Pathogenic, Elliptocytosis 2 (EL2) [MIM:130600] 158,678,434(-) AGCTC(C/G/T)GTCCA nc-transcript-variant, reference, missense
rs121918635 Pathogenic, Elliptocytosis 2 (EL2) [MIM:130600] 158,672,135(-) TCGTC(A/C)GTATG nc-transcript-variant, reference, missense
rs121918636 Pathogenic, Elliptocytosis 2 (EL2) [MIM:130600] 158,678,432(-) CTCTG(C/T)CCAAT nc-transcript-variant, reference, missense
rs121918637 Pathogenic, Elliptocytosis 2 (EL2) [MIM:130600] 158,685,237(-) GAGAG(G/T)GGTCA nc-transcript-variant, reference, missense
rs121918638 Pathogenic, Elliptocytosis 2 (EL2) [MIM:130600] 158,685,235(-) GAGGG(G/T)TCAGA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SPTA1 Gene

Variant ID Type Subtype PubMed ID
esv1284753 CNV deletion 17803354
esv1958503 CNV deletion 18987734
esv2718607 CNV deletion 23290073
esv3541367 CNV deletion 23714750
esv9069 CNV loss 19470904
nsv1077748 CNV deletion 25765185
nsv1119730 CNV deletion 24896259

Variation tolerance for SPTA1 Gene

Residual Variation Intolerance Score: 99.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 19.06; 98.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPTA1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPTA1 Gene

Disorders for SPTA1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for SPTA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
  • ovalocytosis
  • pyropoikilocytosis hereditary
spherocytosis, type 3
  • hereditary spherocytosis type 3
hereditary spherocytosis
  • spherocytosis, type 1
spta1-related spherocytosis
  • sph3
- elite association - COSMIC cancer census association via MalaCards
Search SPTA1 in MalaCards View complete list of genes associated with diseases


  • Elliptocytosis 2 (EL2) [MIM:130600]: A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape. {ECO:0000269 PubMed:1541680, ECO:0000269 PubMed:1638030, ECO:0000269 PubMed:1679439, ECO:0000269 PubMed:1878597, ECO:0000269 PubMed:2384601, ECO:0000269 PubMed:2568861, ECO:0000269 PubMed:2568862, ECO:0000269 PubMed:2794061, ECO:0000269 PubMed:7772539, ECO:0000269 PubMed:8018926, ECO:0000269 PubMed:8193371, ECO:0000269 PubMed:8364215}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hereditary pyropoikilocytosis (HPP) [MIM:266140]: Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. {ECO:0000269 PubMed:1878597}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spherocytosis 3 (SPH3) [MIM:270970]: Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH3 is characterized by severe hemolytic anemia. Inheritance is autosomal recessive. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SPTA1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SPTA1: view

No data available for Genatlas for SPTA1 Gene

Publications for SPTA1 Gene

  1. Solution structural studies on human erythrocyte alpha-spectrin tetramerization site. (PMID: 12672815) Park S. … Fung L.W.-M. (J. Biol. Chem. 2003) 3 4 22 64
  2. Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. (PMID: 8844207) Maillet P. … Delaunay J. (Hum. Mutat. 1996) 3 4 22 64
  3. The first human alpha-spectrin structural domain begins with serine. (PMID: 7929303) Lusitani D.M. … Fung L.W.-M. (J. Biol. Chem. 1994) 3 4 22 64
  4. Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46. (PMID: 8486776) Wilmotte R. … Alloisio N. (J. Clin. Invest. 1993) 3 4 22 64
  5. The complete cDNA and polypeptide sequences of human erythroid alpha- spectrin. (PMID: 1689726) Sahr K.E. … Forget B.G. (J. Biol. Chem. 1990) 3 4 22 64

Products for SPTA1 Gene

Sources for SPTA1 Gene

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