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Details on Person UniProt:Q96AP0 ACD
| Class:Id | ReferenceGeneProduct:174897 |
|---|---|
| _chainChangeLog | chain:1-544 added on Sat February 7 2015;chain:1-544 for 174897 removed on Fri November 1 2019;chain:1-458 for 174897 added on Fri November 1 2019 |
| _displayName | UniProt:Q96AP0 ACD |
| _timestamp | 2024-11-03 19:39:51 |
| chain | chain:1-458 |
| checksum | 6EA98FFC753E9A10 |
| comment | FUNCTION Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends. Without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Promotes binding of POT1 to single-stranded telomeric DNA. Modulates the inhibitory effects of POT1 on telomere elongation. The ACD-POT1 heterodimer enhances telomere elongation by recruiting telomerase to telomeres and increasing its processivity. May play a role in organogenesis.SUBUNIT Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2, TERF2IP ACD and POT1. Forms heterodimers with POT1. Identified in a complex with POT1 and single-stranded telomeric DNA. Interacts with STN1 and TINF2.INTERACTION 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.SEQUENCE CAUTION Extended N-terminus.SEQUENCE CAUTION Extended N-terminus.SEQUENCE CAUTION Extended N-terminus. |
| created | [InstanceEdit:174877] Gillespie, ME, 2006-02-22 18:23:42 |
| description | recommendedName: fullName evidence="16"Adrenocortical dysplasia protein homolog alternativeName: POT1 and TIN2-interacting protein |
| geneName | ACD PIP1 PTOP TINT1 TPP1 |
| identifier | Q96AP0 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Chromosome Disease variant DNA-binding Dyskeratosis congenita Isopeptide bond Nucleus Phosphoprotein Proteomics identification Reference proteome Telomere Ubl conjugation |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | ACD |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8962382] ENSEMBL:ENSG00000102977 ACD [Homo sapiens] |
| secondaryIdentifier | ACD_HUMAN A0A0C4DGT6 Q562H5 Q9H8F9 |
| sequenceLength | 458 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:217819] UniProt:Q96AP0-2 ACD [Homo sapiens] [ReferenceIsoform:9666182] UniProt:Q96AP0-3 ACD [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:174889] ACD [nucleoplasm] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q96AP0 ACD (174897)
