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Details on Person UniProt:Q13813 SPTAN1
| Class:Id | ReferenceGeneProduct:64942 |
|---|---|
| _chainChangeLog | chain:1-2472 added on Fri February 6 2015 |
| _displayName | UniProt:Q13813 SPTAN1 |
| _timestamp | 2024-11-03 19:48:45 |
| chain | chain:1-2472 |
| checksum | 4433BF74EFCEFC8A |
| comment | FUNCTION Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane.SUBUNIT Like erythrocyte spectrin, the spectrin-like proteins are capable of forming dimers which can further associate to tetramers. Interacts (via C-terminal spectrin repeats) with TRPC4. Interacts with CALM and EMD. Interacts with isoform 1 of ACP1. Identified in a complex with ACTN4, CASK, IQGAP1, MAGI2, NPHS1 and SPTBN1. Interacts with SHANK3 (via ANK repeats). Interacts with CLN3; this interaction regulates the fodrin localization at the plasma membrane (Probable).INTERACTION Expressed along the cell membrane in podocytes and presumptive tubule cells during glomerulogenesis and is expressed along lateral cell margins in tubule cells.ALTERNATIVE PRODUCTS Phosphorylation of Tyr-1176 decreases sensitivity to cleavage by calpain in vitro.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the spectrin family.SEQUENCE CAUTION Extended N-terminus. |
| description | recommendedName: Spectrin alpha chain, non-erythrocytic 1 alternativeName: Alpha-II spectrin alternativeName: Fodrin alpha chain alternativeName: Spectrin, non-erythroid alpha subunit |
| geneName | SPTAN1 NEAS SPTA2 |
| identifier | Q13813 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Actin capping Actin-binding Alternative splicing Calcium Calmodulin-binding Cytoplasm Cytoskeleton Direct protein sequencing Disease variant Epilepsy Hereditary spastic paraplegia Intellectual disability Metal-binding Neurodegeneration Neuropathy Phosphoprotein Proteomics identification Reference proteome Repeat SH3 domain |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | SPTAN1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8957710] ENSEMBL:ENSG00000197694 SPTAN1 [Homo sapiens] |
| secondaryIdentifier | SPTN1_HUMAN Q13186 Q15324 Q16606 Q59EF1 Q5VXV5 Q5VXV6 Q7Z6M5 Q9P0V0 |
| sequenceLength | 2472 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:249301] UniProt:Q13813-2 SPTAN1 [Homo sapiens] [ReferenceIsoform:249302] UniProt:Q13813-3 SPTAN1 [Homo sapiens] [ReferenceIsoform:405661] UniProt:Q13813-1 SPTAN1 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:201601] SPTAN1 [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:202944] SPTAN1(1-1185) [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:202964] SPTAN1(1186-2472) [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:6799533] SPTAN1 [specific granule lumen] [Homo sapiens] [EntityWithAccessionedSequence:6800874] SPTAN1 [tertiary granule lumen] [Homo sapiens] [EntityWithAccessionedSequence:6806322] SPTAN1 [extracellular region] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q13813 SPTAN1 (64942)
