Details for: SPTA1

Gene ID: 6708

Symbol: SPTA1

Ensembl ID: ENSG00000163554

Description: spectrin alpha, erythrocytic 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: basophilic erythroblast (CL0000549)
    Fold Change: 33.3548
    Cell Significance Index: 15.1900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 4.6719
    Cell Significance Index: -1.1900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 3.3230
    Cell Significance Index: -1.3500
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.5922
    Cell Significance Index: 26.7800
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 1.0048
    Cell Significance Index: 14.6500
  • Cell Name: enucleate erythrocyte (CL0000595)
    Fold Change: 0.8043
    Cell Significance Index: 4.1600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 0.3370
    Cell Significance Index: -1.3300
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.2279
    Cell Significance Index: 2.5800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.2248
    Cell Significance Index: 3.2200
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.1011
    Cell Significance Index: 1.2500
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.0822
    Cell Significance Index: 1.0000
  • Cell Name: reticulocyte (CL0000558)
    Fold Change: 0.0703
    Cell Significance Index: 0.3700
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.0589
    Cell Significance Index: 0.9400
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.0417
    Cell Significance Index: 0.4500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0388
    Cell Significance Index: 2.5000
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.0378
    Cell Significance Index: 0.5300
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.0356
    Cell Significance Index: 0.5100
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.0277
    Cell Significance Index: 0.6900
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.0209
    Cell Significance Index: 0.2600
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.0130
    Cell Significance Index: 0.1600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0079
    Cell Significance Index: 1.5700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0071
    Cell Significance Index: 0.1900
  • Cell Name: megakaryocyte progenitor cell (CL0000553)
    Fold Change: 0.0063
    Cell Significance Index: 0.0400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0049
    Cell Significance Index: 0.1300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0043
    Cell Significance Index: 2.9700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0002
    Cell Significance Index: 0.4000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0006
    Cell Significance Index: -1.1900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0008
    Cell Significance Index: -1.2500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0008
    Cell Significance Index: -1.0400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0019
    Cell Significance Index: -1.1900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0022
    Cell Significance Index: -1.6000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0026
    Cell Significance Index: -1.6000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0028
    Cell Significance Index: -1.2900
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: -0.0028
    Cell Significance Index: -0.0400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0028
    Cell Significance Index: -1.5800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0035
    Cell Significance Index: -0.7000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0038
    Cell Significance Index: -1.3700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0044
    Cell Significance Index: -0.7500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0051
    Cell Significance Index: -1.4600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0073
    Cell Significance Index: -1.3100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0076
    Cell Significance Index: -1.6100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0080
    Cell Significance Index: -1.1600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0090
    Cell Significance Index: -1.2400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0103
    Cell Significance Index: -1.2700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0104
    Cell Significance Index: -1.0600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0117
    Cell Significance Index: -0.6100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0125
    Cell Significance Index: -0.7700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0128
    Cell Significance Index: -0.9900
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0130
    Cell Significance Index: -0.3300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0140
    Cell Significance Index: -1.6000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0157
    Cell Significance Index: -0.4000
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.0166
    Cell Significance Index: -0.1000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0210
    Cell Significance Index: -0.3600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0232
    Cell Significance Index: -1.3000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0233
    Cell Significance Index: -1.5700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0245
    Cell Significance Index: -1.2800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0272
    Cell Significance Index: -0.7400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0289
    Cell Significance Index: -1.3100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0294
    Cell Significance Index: -1.3700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0297
    Cell Significance Index: -1.4000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0311
    Cell Significance Index: -1.5700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0330
    Cell Significance Index: -0.9200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0338
    Cell Significance Index: -0.6600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0341
    Cell Significance Index: -1.5100
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.0351
    Cell Significance Index: -0.5100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0354
    Cell Significance Index: -1.2400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0358
    Cell Significance Index: -0.9200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0382
    Cell Significance Index: -0.8000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0386
    Cell Significance Index: -1.2300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0392
    Cell Significance Index: -1.2900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0401
    Cell Significance Index: -1.5200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0411
    Cell Significance Index: -1.2100
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.0420
    Cell Significance Index: -0.5600
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0443
    Cell Significance Index: -1.4000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.0449
    Cell Significance Index: -0.9600
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0449
    Cell Significance Index: -0.5800
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.0450
    Cell Significance Index: -0.5300
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.0451
    Cell Significance Index: -0.6600
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.0459
    Cell Significance Index: -0.5800
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.0476
    Cell Significance Index: -0.6900
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0488
    Cell Significance Index: -0.7300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0496
    Cell Significance Index: -1.1900
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0505
    Cell Significance Index: -1.2600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0527
    Cell Significance Index: -1.5100
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.0533
    Cell Significance Index: -0.4400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0536
    Cell Significance Index: -1.4100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0541
    Cell Significance Index: -1.4500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0541
    Cell Significance Index: -1.3200
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0568
    Cell Significance Index: -0.9800
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.0570
    Cell Significance Index: -0.7500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0575
    Cell Significance Index: -1.6400
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.0577
    Cell Significance Index: -0.7900
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0579
    Cell Significance Index: -1.2500
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.0585
    Cell Significance Index: -0.7900
  • Cell Name: neuroplacodal cell (CL0000032)
    Fold Change: -0.0601
    Cell Significance Index: -0.7400
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.0608
    Cell Significance Index: -1.2100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0609
    Cell Significance Index: -1.2900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0612
    Cell Significance Index: -2.5100
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0613
    Cell Significance Index: -1.2300
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0623
    Cell Significance Index: -1.5100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** SPTA1 is a transmembrane protein that belongs to the spectrin family, which is characterized by its unique cytoskeletal domain and ability to bind to actin filaments. The SPTA1 protein consists of two spectrin repeats and a cytoplasmic domain that interacts with actin filaments and other cytoskeletal proteins. SPTA1 is highly glycosylated, with multiple asparagine-linked glycosylation sites, which are essential for its stability and function. The protein is also subject to post-translational modifications, including phosphorylation and ubiquitination, which regulate its activity and localization. **Pathways and Functions** SPTA1 plays a critical role in various cellular processes, including: 1. **Actin Cytoskeleton Organization**: SPTA1 interacts with actin filaments and other cytoskeletal proteins to regulate the structure and dynamics of the actin cytoskeleton, which is essential for cell shape, motility, and division. 2. **Membrane Trafficking**: SPTA1 is involved in the regulation of membrane trafficking, including vesicle-mediated transport and endocytosis, which are essential for cell signaling, growth, and differentiation. 3. **Signaling Pathways**: SPTA1 interacts with various signaling molecules, including integrins, receptors, and kinases, to regulate cell proliferation, differentiation, and survival. 4. **Cell Shape Regulation**: SPTA1 helps maintain the shape of cells, including RBCs, neurons, and epithelial cells, by regulating the organization of the actin cytoskeleton and membrane proteins. **Clinical Significance** Dysregulation of SPTA1 has been implicated in various diseases, including: 1. **Anemia**: Mutations in SPTA1 can cause hereditary spherocytosis, a type of anemia characterized by the production of abnormally shaped RBCs. 2. **Leukemia**: SPTA1 mutations have been identified in some cases of leukemia, including acute myeloid leukemia and chronic myeloid leukemia. 3. **Neurological Disorders**: SPTA1 is expressed in the brain and has been implicated in the pathogenesis of neurological disorders, including Alzheimer's disease and Parkinson's disease. 4. **Cancer**: SPTA1 is overexpressed in some types of cancer, including breast cancer and lung cancer, and has been implicated in tumor progression and metastasis. In conclusion, SPTA1 is a critical gene that plays a central role in maintaining the structural integrity and function of RBCs and other cell types. The dysregulation of SPTA1 has been implicated in various diseases, highlighting the importance of this gene in human health and disease.

Genular Protein ID: 589874409

Symbol: SPTA1_HUMAN

Name: Spectrin alpha chain, erythrocytic 1

UniProtKB Accession Codes:

P02549 Q15514 Q5VYL1 Q5VYL2 Q6LDY5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 8 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 EMBL 65 Ensembl 1 EvolutionaryTrace 1 GO 23 Gene3D 4 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 4 RefSeq 2 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1689726

Title: The complete cDNA and polypeptide sequences of human erythroid alpha-spectrin.

PubMed ID: 1689726

DOI: 10.1016/s0021-9258(19)39583-3

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 2794061

Title: 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.

PubMed ID: 2794061

DOI: 10.1172/jci114291

PubMed ID: 6654896

Title: Structure of human erythrocyte spectrin. II. The sequence of the alpha-I domain.

PubMed ID: 6654896

DOI: 10.1016/s0021-9258(17)43754-9

PubMed ID: 6654895

Title: Structure of human erythrocyte spectrin. I. Isolation of the alpha-I domain and its cyanogen bromide peptides.

PubMed ID: 6654895

DOI: 10.1016/s0021-9258(17)43753-7

PubMed ID: 3458204

Title: Cloning of a portion of the chromosomal gene for human erythrocyte alpha-spectrin by using a synthetic gene fragment.

PubMed ID: 3458204

DOI: 10.1073/pnas.83.8.2397

PubMed ID: 3000887

Title: Sequence comparison of human and murine erythrocyte alpha-spectrin cDNA.

PubMed ID: 3000887

DOI: 10.1016/0378-1119(85)90191-x

PubMed ID: 6472478

Title: Erythrocyte spectrin is comprised of many homologous triple helical segments.

PubMed ID: 6472478

DOI: 10.1038/311177a0

PubMed ID: 1634521

Title: Properties of human red cell spectrin heterodimer (side-to-side) assembly and identification of an essential nucleation site.

PubMed ID: 1634521

DOI: 10.1016/s0021-9258(18)42107-2

PubMed ID: 7929303

Title: The first human alpha-spectrin structural domain begins with serine.

PubMed ID: 7929303

DOI: 10.1016/s0021-9258(18)47141-4

PubMed ID: 19807924

Title: Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening.

PubMed ID: 19807924

DOI: 10.1186/1471-2172-10-53

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 12672815

Title: Solution structural studies on human erythrocyte alpha-spectrin tetramerization site.

PubMed ID: 12672815

DOI: 10.1074/jbc.m300617200

PubMed ID: 8844207

Title: Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis.

PubMed ID: 8844207

DOI: 10.1002/(sici)1098-1004(1996)8:2<97::aid-humu1>3.0.co;2-m

PubMed ID: 8018926

Title: 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.

PubMed ID: 8018926

PubMed ID: 1679439

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

PubMed ID: 1679439

DOI: 10.1172/jci115371

PubMed ID: 1878597

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

PubMed ID: 1878597

PubMed ID: 2568862

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

PubMed ID: 2568862

PubMed ID: 1541680

Title: 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.

PubMed ID: 1541680

DOI: 10.1172/jci115669

PubMed ID: 8486776

Title: 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.

PubMed ID: 8486776

DOI: 10.1172/jci116432

PubMed ID: 8364215

Title: Elliptopoikilocytosis associated with the alpha 469 His-->Pro mutation in spectrin Barcelona (alpha I/50-46b).

PubMed ID: 8364215

PubMed ID: 8226774

Title: Spectrin Cagliari: an Ala-->Gly substitution in helix 1 of beta spectrin repeat 17 that severely disrupts the structure and self-association of the erythrocyte spectrin heterodimer.

PubMed ID: 8226774

DOI: 10.1016/s0021-9258(18)41578-5

PubMed ID: 2384601

Title: 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).

PubMed ID: 2384601

DOI: 10.1172/jci114743

PubMed ID: 1638030

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

PubMed ID: 1638030

PubMed ID: 2568861

Title: 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.

PubMed ID: 2568861

PubMed ID: 8136282

Title: Molecular basis of clinical and morphological heterogeneity in hereditary elliptocytosis (HE) with spectrin alpha I variants.

PubMed ID: 8136282

DOI: 10.1111/j.1365-2141.1993.tb03352.x

PubMed ID: 8193371

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

PubMed ID: 8193371

PubMed ID: 8081008

Title: A second allele of spectrin alpha-gene associated with the alpha I/65 phenotype (allele alpha Ponte de Sor).

PubMed ID: 8081008

PubMed ID: 7772539

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

PubMed ID: 7772539

Sequence Information:

  • Length: 2419
  • Mass: 280014
  • Checksum: B60680145C58DF55
  • Sequence:
    • MEQFPKETVV ESSGPKVLET AEEIQERRQE VLTRYQSFKE RVAERGQKLE DSYHLQVFKR 
DADDLGKWIM EKVNILTDKS YEDPTNIQGK YQKHQSLEAE VQTKSRLMSE LEKTREERFT 
MGHSAHEETK AHIEELRHLW DLLLELTLEK GDQLLRALKF QQYVQECADI LEWIGDKEAI 
ATSVELGEDW ERTEVLHKKF EDFQVELVAK EGRVVEVNQY ANECAEENHP DLPLIQSKQN 
EVNAAWERLR GLALQRQKAL SNAANLQRFK RDVTEAIQWI KEKEPVLTSE DYGKDLVASE 
GLFHSHKGLE RNLAVMSDKV KELCAKAEKL TLSHPSDAPQ IQEMKEDLVS SWEHIRALAT 
SRYEKLQATY WYHRFSSDFD ELSGWMNEKT AAINADELPT DVAGGEVLLD RHQQHKHEID 
SYDDRFQSAD ETGQDLVNAN HEASDEVREK MEILDNNWTA LLELWDERHR QYEQCLDFHL 
FYRDSEQVDS WMSRQEAFLE NEDLGNSLGS AEALLQKHED FEEAFTAQEE KIITVDKTAT 
KLIGDDHYDS ENIKAIRDGL LARRDALREK AATRRRLLKE SLLLQKLYED SDDLKNWINK 
KKKLADDEDY KDIQNLKSRV QKQQVFEKEL AVNKTQLENI QKTGQEMIEG GHYASDNVTT 
RLSEVASLWE ELLEATKQKG TQLHEANQQL QFENNAEDLQ RWLEDVEWQV TSEDYGKGLA 
EVQNRLRKHG LLESAVAARQ DQVDILTDLA AYFEEIGHPD SKDIRARQES LVCRFEALKE 
PLATRKKKLL DLLHLQLICR DTEDEEAWIQ ETEPSATSTY LGKDLIASKK LLNRHRVILE 
NIASHEPRIQ EITERGNKMV EEGHFAAEDV ASRVKSLNQN MESLRARAAR RQNDLEANVQ 
FQQYLADLHE AETWIREKEP IVDNTNYGAD EEAAGALLKK HEAFLLDLNS FGDSMKALRN 
QANACQQQQA APVEGVAGEQ RVMALYDFQA RSPREVTMKK GDVLTLLSSI NKDWWKVEAA 
DHQGIVPAVY VRRLAHDEFP MLPQRRREEP GNITQRQEQI ENQYRSLLDR AEERRRRLLQ 
RYNEFLLAYE AGDMLEWIQE KKAENTGVEL DDVWELQKKF DEFQKDLNTN EPRLRDINKV 
ADDLLFEGLL TPEGAQIRQE LNSRWGSLQR LADEQRQLLG SAHAVEVFHR EADDTKEQIE 
KKCQALSAAD PGSDLFSVQA LQRRHEGFER DLVPLGDKVT ILGETAERLS ESHPDATEDL 
QRQKMELNEA WEDLQGRTKD RKESLNEAQK FYLFLSKARD LQNWISSIGG MVSSQELAED 
LTGIEILLER HQEHRADMEA EAPTFQALED FSAELIDSGH HASPEIEKKL QAVKLERDDL 
EKAWEKRKKI LDQCLELQMF QGNCDQVESW MVARENSLRS DDKSSLDSLE ALMKKRDDLD 
KAITAQEGKI TDLEHFAESL IADEHYAKEE IATRLQRVLD RWKALKAQLI DERTKLGDYA 
NLKQFYRDLE ELEEWISEML PTACDESYKD ATNIQRKYLK HQTFAHEVDG RSEQVHGVIN 
LGNSLIECSA CDGNEEAMKE QLEQLKEHWD HLLERTNDKG KKLNEASRQQ RFNTSIRDFE 
FWLSEAETLL AMKDQARDLA SAGNLLKKHQ LLEREMLARE DALKDLNTLA EDLLSSGTFN 
VDQIVKKKDN VNKRFLNVQE LAAAHHEKLK EAYALFQFFQ DLDDEESWIE EKLIRVSSQD 
YGRDLQGVQN LLKKHKRLEG ELVAHEPAIQ NVLDMAEKLK DKAAVGQEEI QLRLAQFVEH 
WEKLKELAKA RGLKLEESLE YLQFMQNAEE EEAWINEKNA LAVRGDCGDT LAATQSLLMK 
HEALENDFAV HETRVQNVCA QGEDILNKVL QEESQNKEIS SKIEALNEKT PSLAKAIAAW 
KLQLEDDYAF QEFNWKADVV EAWIADKETS LKTNGNGADL GDFLTLLAKQ DTLDASLQSF 
QQERLPEITD LKDKLISAQH NQSKAIEERY AALLKRWEQL LEASAVHRQK LLEKQLPLQK 
AEDLFVEFAH KASALNNWCE KMEENLSEPV HCVSLNEIRQ LQKDHEDFLA SLARAQADFK 
CLLELDQQIK ALGVPSSPYT WLTVEVLERT WKHLSDIIEE REQELQKEEA RQVKNFEMCQ 
EFEQNASTFL QWILETRAYF LDGSLLKETG TLESQLEANK RKQKEIQAMK RQLTKIVDLG 
DNLEDALILD IKYSTIGLAQ QWDQLYQLGL RMQHNLEQQI QAKDIKGVSE ETLKEFSTIY 
KHFDENLTGR LTHKEFRSCL RGLNYYLPMV EEDEHEPKFE KFLDAVDPGR KGYVSLEDYT 
AFLIDKESEN IKSSDEIENA FQALAEGKSY ITKEDMKQAL TPEQVSFCAT HMQQYMDPRG 
RSHLSGYDYV GFTNSYFGN

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.