ACD Gene Summary [Human]
This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ACD |
| Official Name | ACD shelterin complex subunit and telomerase recruitment factor [Source:HGNC Symbol;Acc:HGNC:25070] |
| Ensembl ID | ENSG00000102977 |
| Bio databases IDs | |
| Aliases | ACD shelterin complex subunit and telomerase recruitment factor, TIN2 interacting protein 1, POT1 and TIN2 organizing protein |
| Synonyms | ACD shelterin complex subunit and telomerase recruitment factor, ACD, shelterin complex subunit and telomerase recruitment factor, adrenocortical dysplasia, PIP1, PTOP, TINT1, TPP1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ACD often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- proline-tryptophan-isoleucine motif
- nuclear export signal
- serine-rich region
- binding protein
- enzyme inhibitor activity
- enzyme binding
- oligosaccharide/oligonucleotide-binding fold
- protein binding
- POT1 recruitment domain
- Shelterin complex subunit, TPP1/ACD
- telomeric DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal dominant dyskeratosis congenita type 6
- chronic lymphocytic leukemia
- long telomere syndrome
- autosomal recessive dyskeratosis congenita type 7
- ACD-related short telomere syndrome
role in cell
- apoptosis
- binding in
- proliferation
- growth
- elongation
- maintenance
- length
- DNA damage response
- maintenance in
- assembly
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- nucleoplasm
- nuclear bodies
- telomeres
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ACD gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- segmentation
- positive regulation of single-stranded telomeric DNA binding
- telomere maintenance via telomerase
- telomere maintenance
- intracellular protein transport
- positive regulation of telomerase activity
- embryonic limb morphogenesis
- skeletal system development
- urogenital system development
- establishment of protein localization to telomere
- protection from non-homologous end joining at telomere
- protein localization to chromosome, telomeric region
- positive regulation of telomere maintenance via telomerase
- telomere assembly
- negative regulation of telomere maintenance via telomerase
- telomere capping
- positive regulation of telomere maintenance
Cellular Component
Where in the cell the gene product is active
- chromosome, telomeric region
- nuclear body
- telosome
- telomerase holoenzyme complex
- nucleoplasm
- nuclear telomere cap complex
Molecular Function
What the gene product does at the molecular level
- DNA polymerase binding
- protein binding
- telomeric DNA binding