Gene: SPTA1

Alternate names for this Gene: EL2|HPP|HS3|SPH3|SPTA

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q23.1

Description of this Gene: spectrin alpha, erythrocytic 1

Type of Gene: protein-coding

rs10443899 in SPTA1 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

rs121918634 in SPTA1 gene and ELLIPTOCYTOSIS 2 (disorder) PMID 8364215 1993 Elliptopoikilocytosis associated with the alpha 469 His-->Pro mutation in spectrin Barcelona (alpha I/50-46b).

PMID 2794061 1989 Sequence and exon-intron organization of the DNA encoding the alpha I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis.

PMID 2568862 1989 Sp alpha I/78: a mutation of the alpha I spectrin domain in a white kindred with HE and HPP phenotypes.

PMID 2568861 1989 Spectrin Tunis (Sp alpha I/78), an elliptocytogenic variant, is due to the CGG----TGG codon change (Arg----Trp) at position 35 of the alpha I domain.

PMID 7772539 1995 Spectrin Anastasia (alpha I/78): a new spectrin variant (alpha 45 Arg-->Thr) with moderate elliptocytogenic potential.

PMID 8018926 1994 Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site.

PMID 8193371 1994 Mild elliptocytosis associated with the alpha 34 Arg-->Trp mutation in spectrin Genova (alpha I/74).

PMID 1679439 1991 Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis.

PMID 1638030 1992 Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site.

PMID 2384601 1990 Two elliptocytogenic alpha I/74 variants of the spectrin alpha I domain. Spectrin Culoz (GGT----GTT; alpha I 40 Gly----Val) and spectrin Lyon (CTT----TTT; alpha I 43 Leu---Phe).

PMID 1878597 1991 Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide.

PMID 1541680 1992 A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin.

rs11811522 in SPTA1 gene and Finding of Mean Corpuscular Hemoglobin PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121918643 in SPTA1 gene and Hereditary pyropoikilocytosis PMID 1878597 1991 Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide.

rs2157691 in SPTA1 gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs148912436 in SPTA1 gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs857725 in SPTA1 gene and Mean corpuscular hemoglobin concentration determination PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

rs11265038 in SPTA1 gene and RDW - Red blood cell distribution width result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2157691 in SPTA1 gene and Red Blood Cell Count measurement PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11265038 in SPTA1 gene and Red cell distribution width determination PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs140446749 in SPTA1 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs41273519 in SPTA1 gene and SPHEROCYTOSIS, TYPE 3 (disorder) PMID 27667160 2016 Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.

rs2022003 in SPTA1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 21738479 2011 Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).