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Details on Person UniProt:Q14320 FAM50A
| Class:Id | ReferenceGeneProduct:67416 |
|---|---|
| _chainChangeLog | initiator methionine:1 added on Sat February 7 2015;chain:2-339 added on Sat February 7 2015;initiator methionine:1 for 67416 removed on Fri Nov 03 2023;initiator methionine: for 67416 added on Fri Nov 03 2023;initiator methionine: for 67416 removed on Fri Aug 15 2025;initiator methionine:1 for 67416 added on Fri Aug 15 2025 |
| _displayName | UniProt:Q14320 FAM50A |
| _timestamp | 2025-08-15 21:37:45 |
| chain | initiator methionine:1 chain:2-339 |
| checksum | 88BCA57E49B0AA32 |
| comment | FUNCTION Probably involved in the regulation of pre-mRNA splicing.SUBUNIT Interacts with EFTUD2, a component of the spliceosome U5 complex (PubMed:32703943). Interacts with DDX41, a component of the spliceosome C complex (PubMed:32703943).SUBCELLULAR LOCATION Widely expressed in fetal and adult tissues. Mostly abundant in fetal brain, liver and kidney; in the adult, high levels were also observed in heart, skeletal muscle, spleen, thymus, prostate and small intestine. Expressed in fetal cerebellum and hypothalamus. Low expression is observed in fetal temporal lobe (PubMed:32703943).DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the FAM50 family. |
| description | recommendedName: Protein FAM50A alternativeName: Protein HXC-26 alternativeName: Protein XAP-5 |
| geneName | FAM50A DXS9928E HXC26 XAP5 |
| identifier | Q14320 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Direct protein sequencing Disease variant Intellectual disability Isopeptide bond mRNA processing mRNA splicing Nucleus Proteomics identification Reference proteome Ubl conjugation |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9862192] Weiser, Joel, 2024-02-26 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9963647] Weiser, Joel, 2025-08-15 |
| name | FAM50A |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8999476] ENSEMBL:ENSG00000071859 FAM50A [Homo sapiens] |
| secondaryIdentifier | FA50A_HUMAN A8KAQ4 B2R997 Q5HY37 Q6PJH5 |
| sequenceLength | 339 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:9769599] FAM50A [nucleoplasm] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q14320 FAM50A (67416)
