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Details on Person UniProt:P12814-1 ACTN1
| Class:Id | ReferenceIsoform:8968162 |
|---|---|
| _chainChangeLog | chain:1-892 added on Fri February 17 2017 |
| _displayName | UniProt:P12814-1 ACTN1 |
| _timestamp | 2024-11-03 20:13:06 |
| chain | chain:1-892 |
| checksum | 6DA3E4D1A0289519 |
| comment | FUNCTION F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. Association with IGSF8 regulates the immune synapse formation and is required for efficient T-cell activation (PubMed:22689882).SUBUNIT Homodimer; antiparallel. Interacts with MYOZ2, TTID and LPP (PubMed:10369880, PubMed:11114196, PubMed:12615977). Interacts with DDN (PubMed:16464232). Interacts with PSD. Interacts with MICALL2 (By similarity). Interacts with DNM2 and CTTN. Interacts with PDLIM1. Interacts with PDLIM2. Interacts with PDLIM4 (via PDZ domain) (By similarity). Interacts with IGSF8 (PubMed:22689882).INTERACTION Colocalizes with MYOZ2 and PPP3CA at the Z-line of heart and skeletal muscle. Colocalizes with PSD in membrane ruffles and central reticular structures.ALTERNATIVE PRODUCTS The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the alpha-actinin family. |
| created | [InstanceEdit:8964659] Weiser, JD |
| description | recommendedName: Alpha-actinin-1 alternativeName: Alpha-actinin cytoskeletal isoform alternativeName: F-actin cross-linking protein alternativeName: Non-muscle alpha-actinin-1 |
| geneName | ACTN1 |
| identifier | P12814 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Actin-binding Alternative splicing Calcium Cell junction Cell membrane Cell projection Cytoplasm Cytoskeleton Direct protein sequencing Disease variant Membrane Metal-binding 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 |
| name | ACTN1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8957515] ENSEMBL:ENSG00000072110 ACTN1 [Homo sapiens] |
| secondaryIdentifier | ACTN1_HUMAN B3V8S3 B4DHH3 B7TY16 Q1HE25 Q9BTN1 |
| sequenceLength | 892 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | P12814-1 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:P12814-1 ACTN1 (8968162)
