Homo sapiens Protein: SPTB | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-9245.7 | ||||||||||||||||||
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 | ENSP00000374370 | ||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF00307
PF00435 PF11971 |
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PRINTS | |||||||||||||||||||
PIRSF |
PIRSF002297
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SMART |
SM00033
SM00150 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | P11277 | ||||||||||||||||||
PhosphoSite | PhosphoSite-P11277 | ||||||||||||||||||
TrEMBL | Q71VG2 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 6710 | ||||||||||||||||||
UniGene | Hs.417303 | ||||||||||||||||||
RefSeq | |||||||||||||||||||
HUGO | HGNC:11274 | ||||||||||||||||||
OMIM | 182870 | ||||||||||||||||||
CCDS | |||||||||||||||||||
HPRD | 01686 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AF013172 AF013173 AF013174 AF013178 AF013179 AF013180 AF013181 AF013182 AF013183 AF013184 AL121774 J05500 M18054 M37884 M37885 M57948 X59510 X59511 | ||||||||||||||||||
GenPept | AAA60571 AAA60572 AAA60578 AAA60579 AAA63259 AAC02786 AAC02787 AAC02788 AAC02790 AAC02791 AAC02792 CAA42097 CAA42098 | ||||||||||||||||||