Description: Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. RefSeq Summary (NM_003126): This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Transcript (Including UTRs) Position: hg19 chr1:158,580,496-158,656,506 Size: 76,011 Total Exon Count: 52 Strand: - Coding Region Position: hg19 chr1:158,581,054-158,656,307 Size: 75,254 Coding Exon Count: 52
ID:SPTA1_HUMAN DESCRIPTION: RecName: Full=Spectrin alpha chain, erythrocytic 1; AltName: Full=Erythroid alpha-spectrin; 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. SUBUNIT: 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. INTERACTION: Q8IZP0:ABI1; NbExp=2; IntAct=EBI-375617, EBI-375446; Q01082:SPTBN1; NbExp=3; IntAct=EBI-375617, EBI-351561; SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. DISEASE: Defects in SPTA1 are the cause of elliptocytosis type 2 (EL2) [MIM:130600]. EL2 is 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. DISEASE: Defects in SPTA1 are a cause of hereditary pyropoikilocytosis (HPP) [MIM:266140]. HPP is an autosomal recessive disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. DISEASE: Defects in SPTA1 are the cause of spherocytosis type 3 (SPH3) [MIM:270970]; also known as hereditary spherocytosis type 3 (HS3). 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. MISCELLANEOUS: 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. SIMILARITY: Belongs to the spectrin family. SIMILARITY: Contains 3 EF-hand domains. SIMILARITY: Contains 1 SH3 domain. SIMILARITY: Contains 21 spectrin repeats.
Erythrocyte Indices Santhi K Ganesh et al. Nature genetics 2009, Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium., Nature genetics.
[PubMed 19862010]
Hemoglobin A, Glycosylated Nicole Soranzo et al. Diabetes 2010, , Diabetes.
[PubMed 20858683]
other erythrocyte phenotypes Ganesh ,et al. 2009, Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium, Nature genetics 2009 41- 11 : 1191-8.
[PubMed 19862010]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P02549
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Protein P02549 (Reactome details) participates in the following event(s):
R-HSA-391868 Dephosphorylation of NCAM1 bound pFyn R-NUL-420388 Dephosphorylation of NCAM1 bound pFyn R-HSA-391865 Recruitment of FAK to NCAM1:Fyn in lipid rafts R-HSA-391871 Autophosphorylation of NCAM1 bound Fyn R-HSA-392751 L1 linked to actin cytoskeleton by ankyrin R-HSA-6807875 ARFGAP, cargo, v-SNAREs and p24 proteins bind nascent COPI complex R-NUL-420398 Autophosphorylation of NCAM1 bound Fyn R-HSA-391866 Phosphorylation of FAK by Src kinase R-HSA-392051 Recruitment of Grb2 to pFAK:NCAM1 R-HSA-392053 SOS binds Grb2 bound to pFAK:NCAM1 R-HSA-373739 Ankyrins link voltage-gated sodium and potassium channels to spectrin and L1 R-HSA-6807877 ARFGAPs stimulate ARF GTPase activity R-HSA-6809003 ERGIC-to-Golgi vesicles bind dynein:dynactin R-HSA-392054 NCAM1:pFAK:Grb2:Sos-mediated nucleotide exchange of Ras R-HSA-6809006 Vesicle is tethered through binding GOLGA2:GORASP1, GOLGB1 and the COG complex R-HSA-6809011 cis-Golgi t-SNAREs bind YKT6 on tethered vesicle R-HSA-5672965 RAS GEFs promote RAS nucleotide exchange R-HSA-375165 NCAM signaling for neurite out-growth R-HSA-445095 Interaction between L1 and Ankyrins R-HSA-6807878 COPI-mediated anterograde transport R-HSA-422475 Axon guidance R-HSA-373760 L1CAM interactions R-HSA-199977 ER to Golgi Anterograde Transport R-HSA-1266738 Developmental Biology R-HSA-199991 Membrane Trafficking R-HSA-948021 Transport to the Golgi and subsequent modification R-HSA-5673001 RAF/MAP kinase cascade R-HSA-5653656 Vesicle-mediated transport R-HSA-446203 Asparagine N-linked glycosylation R-HSA-5684996 MAPK1/MAPK3 signaling R-HSA-597592 Post-translational protein modification R-HSA-5683057 MAPK family signaling cascades R-HSA-392499 Metabolism of proteins R-HSA-162582 Signal Transduction
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Common Gene Haplotype Alleles 
