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Details on Person UniProt:Q01082-1 SPTBN1
| Class:Id | ReferenceIsoform:405014 |
|---|---|
| _chainChangeLog | initiator methionine:1 added on Fri February 6 2015;chain:2-2364 added on Fri February 6 2015;initiator methionine:1 for 405014 removed on Fri Nov 03 2023;initiator methionine: for 405014 added on Fri Nov 03 2023;initiator methionine: for 405014 removed on Fri Aug 15 2025;initiator methionine:1 for 405014 added on Fri Aug 15 2025 |
| _displayName | UniProt:Q01082-1 SPTBN1 |
| _timestamp | 2025-08-15 21:19:04 |
| chain | initiator methionine:1 chain:2-2364 |
| checksum | 1770C3B0EB07B892 |
| 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. Plays a critical role in central nervous system development and function.SUBUNIT Interacts with CAMSAP1 (PubMed:24117850). Interacts with ANK2 (PubMed:15262991, PubMed:34211179). Interacts with CPNE4 (via VWFA domain) (By similarity). Like erythrocyte spectrin, the spectrin-like proteins are capable to form dimers which can further associate to tetramers (By similarity). Can form heterodimers with SPTAN1 (PubMed:34211179). Isoform Short cannot bind to the axonal protein fodaxin.INTERACTION Colocalizes with ANK2 in a distinct intracellular compartment of neonatal cardiomyocytes.SUBCELLULAR LOCATION Isoform 2 is present in brain, lung and kidney (at protein level).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. |
| created | [InstanceEdit:400710] Schmidt, EE, 2009-03-25 05:33:35 |
| description | recommendedName: Spectrin beta chain, non-erythrocytic 1 alternativeName: Beta-II spectrin alternativeName: Fodrin beta chain alternativeName: Spectrin, non-erythroid beta chain 1 |
| geneName | SPTBN1 SPTB2 |
| identifier | Q01082 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Actin capping Actin-binding Alternative splicing Calmodulin-binding Cell membrane Cytoplasm Cytoskeleton Disease variant Glycoprotein Intellectual disability Membrane Phosphoprotein Proteomics identification Reference proteome Repeat |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9963647] Weiser, Joel, 2025-08-15 |
| name | SPTBN1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8958605] ENSEMBL:ENSG00000115306 SPTBN1 [Homo sapiens] |
| secondaryIdentifier | SPTB2_HUMAN B2RP63 O60837 Q16057 Q53R99 Q59ER3 Q8IX99 |
| sequenceLength | 2364 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | Q01082-1 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q01082-1 SPTBN1 (405014)
