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Details on Person UniProt:Q9H2C0 GAN
| Class:Id | ReferenceGeneProduct:55316 |
|---|---|
| _chainChangeLog | chain:1-597 added on Sat February 7 2015 |
| _displayName | UniProt:Q9H2C0 GAN |
| _timestamp | 2024-11-03 19:41:02 |
| chain | chain:1-597 |
| checksum | 4B6ECFA6849880C7 |
| comment | FUNCTION Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB. Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival.PATHWAY Protein modification; protein ubiquitination.SUBUNIT Interacts with TBCB. Interacts with CUL3. Part of a complex that contains CUL3, RBX1 and GAN. Interacts (via BTB domain) with UBA1. Interacts (via Kelch domains) with MAP1B (via C-terminus) and MAP1S (via C-terminus).INTERACTION Expressed in brain, heart and muscle.PTM Ubiquitinated by E3 ubiquitin ligase complex formed by CUL3 and RBX1 and probably targeted for proteasome-independent degradation.DISEASE The disease is caused by variants affecting the gene represented in this entry. |
| description | recommendedName: Gigaxonin alternativeName: Kelch-like protein 16 |
| geneName | GAN GAN1 KLHL16 |
| identifier | Q9H2C0 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Cytoplasm Cytoskeleton Disease variant Kelch repeat Neurodegeneration Neuropathy Proteomics identification Reference proteome Repeat Ubl conjugation Ubl conjugation pathway |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | GAN |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8997717] ENSEMBL:ENSG00000261609 GAN [Homo sapiens] |
| secondaryIdentifier | GAN_HUMAN |
| sequenceLength | 597 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:976014] GAN [cytosol] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q9H2C0 GAN (55316)
