Homo sapiens Protein: SPTA1 | |||||||||||||||||||||||
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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.
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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 |
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 |
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PFAM |
PF00018
PF14604 PF00435 PF00036 PF13202 PF13405 PF07653 PF08726 |
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PRINTS |
PR00452
PR01887 |
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PIRSF | |||||||||||||||||||||||
SMART |
SM00326
SM00054 SM00150 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | P02549 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-P02549 | ||||||||||||||||||||||
TrEMBL | O60686 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 6708 | ||||||||||||||||||||||
UniGene | Hs.119825 | ||||||||||||||||||||||
RefSeq | NP_003117 | ||||||||||||||||||||||
HUGO | HGNC:11272 | ||||||||||||||||||||||
OMIM | 182860 | ||||||||||||||||||||||
CCDS | CCDS41423 | ||||||||||||||||||||||
HPRD | 01685 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AF060556 AL353894 M11049 M13233 M29983 M29984 M29985 M29986 M29987 M29988 M29989 M29990 M29991 M29992 M29993 M29994 M61776 M61777 M61778 M61779 M61780 M61781 M61782 M61783 M61784 M61785 M61787 M61788 M61789 M61791 M61792 M61793 M61794 M61795 M61796 M61797 M61798 M61799 M61800 M61801 M61802 M61803 M61804 M61805 M61806 M61807 M61808 M61809 M61810 M61811 M61812 M61814 M61815 M61816 M61817 M61818 M61819 M61820 M61821 M61822 M61823 M61824 M61825 M61826 M61852 M61877 | ||||||||||||||||||||||
GenPept | AAA53103 AAA60569 AAA60575 AAA60577 AAA60994 AAC15757 CAH73936 CAH73937 | ||||||||||||||||||||||