InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SPTA1

Summary

InnateDB Protein

IDBP-103810.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SPTA1

Protein Name

spectrin, alpha, erythrocytic 1 (elliptocytosis 2)

Synonyms

EL2; HPP; HS3; SPH3; SPTA;

Species

Homo sapiens

Ensembl Protein

ENSP00000357129

InnateDB Gene

IDBG-103806 (SPTA1)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Cytoplasm, cytoskeleton. Cytoplasm, cell cortex.

Disease Associations

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:0000269PubMed:1541680, ECO:0000269PubMed:1638030, ECO:0000269PubMed:1679439, ECO:0000269PubMed:1878597, ECO:0000269PubMed:2384601, ECO:0000269PubMed:2568861, ECO:0000269PubMed:2568862, ECO:0000269PubMed:2794061, ECO:0000269PubMed:7772539, ECO:0000269PubMed:8018926, ECO:0000269PubMed:8193371, ECO:0000269PubMed: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:0000269PubMed: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.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	30 [view]
Protein-Protein	30 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005200	structural constituent of cytoskeleton
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0046982	protein heterodimerization activity
GO:0051015	actin filament binding

Biological Process

GO:0002260	lymphocyte homeostasis
GO:0006779	porphyrin-containing compound biosynthetic process
GO:0007009	plasma membrane organization
GO:0007015	actin filament organization
GO:0007411	axon guidance
GO:0008360	regulation of cell shape
GO:0030036	actin cytoskeleton organization
GO:0030097	hemopoiesis
GO:0032092	positive regulation of protein binding
GO:0042102	positive regulation of T cell proliferation
GO:0051693	actin filament capping

Cellular Component

GO:0005829	cytosol
GO:0008091	spectrin
GO:0014731	spectrin-associated cytoskeleton
GO:0015629	actin cytoskeleton
GO:0016020	membrane
GO:0030863	cortical cytoskeleton
GO:0031235	intrinsic component of the cytoplasmic side of the plasma membrane
GO:0032437	cuticular plate

Protein Structure and Domains

PDB ID

InterPro

IPR001452 SH3 domain
IPR002017 Spectrin repeat
IPR002048 EF-hand domain
IPR011511 Variant SH3 domain
IPR013315 Spectrin alpha chain, SH3 domain
IPR014837 EF-hand, Ca insensitive
IPR018159 Spectrin/alpha-actinin

PFAM