InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SPTB

Summary

InnateDB Protein

IDBP-9247.6

Last Modified

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

Gene Symbol

SPTB

Protein Name

spectrin, beta, erythrocytic

Synonyms

EL3; HS2; HSPTB1; SPH2;

Species

Homo sapiens

Ensembl Protein

ENSP00000374371

InnateDB Gene

IDBG-9231 (SPTB)

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 3 (EL3) [MIM:182870]: 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:1975598, ECO:0000269PubMed:7883966, ECO:0000269PubMed:8018926, ECO:0000269PubMed:8226774}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spherocytosis 2 (SPH2) [MIM:182870]: Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH1 is characterized by severe hemolytic anemia. Inheritance is autosomal dominant. 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 14 experimentally validated interaction(s) in this database.

Experimentally validated
Total	14 [view]
Protein-Protein	14 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005200	structural constituent of cytoskeleton
GO:0005515	protein binding
GO:0030506	ankyrin binding
GO:0051015	actin filament binding

Biological Process

GO:0007411	axon guidance
GO:0051693	actin filament capping

Cellular Component

GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0008091	spectrin
GO:0009986	cell surface
GO:0014731	spectrin-associated cytoskeleton
GO:0015629	actin cytoskeleton
GO:0031235	intrinsic component of the cytoplasmic side of the plasma membrane
GO:0043234	protein complex

Protein Structure and Domains

PDB ID

InterPro

IPR001715 Calponin homology domain
IPR002017 Spectrin repeat
IPR016343 Spectrin, beta subunit
IPR018159 Spectrin/alpha-actinin
IPR022613 Calmodulin-regulated spectrin-associated protein, CH domain

PFAM

PF00307
PF00435
PF11971

PRINTS

PIRSF

PIRSF002297

SMART

SM00033
SM00150

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt