| Gene Symbol |
ACD
|
| Entrez Gene |
65057
|
| Alt Symbol |
PIP1, PTOP, TINT1, TPP1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
adrenocortical dysplasia homolog (mouse)
|
| Other Description |
POT1 and TIN2 organizing protein|POT1 and TIN2-interacting protein|TIN2 interacting protein 1|adrenocortical dysplasia protein homolog
|
| Swissprots |
Q9H8F9 Q562H5 Q96AP0
|
| Accessions |
AAX82621 EAW83154 EAW83155 Q96AP0 AF070535 AK023726 BAB14658 AK125623 AK301090 BAG62692 AY502940 AAS80318 BC016904 AAH16904 DB040017 XM_005256115 XP_005256172 XR_429727 XR_429728 NM_001082486 NP_001075955 NM_001082487 NP_001075956 NM_022914 NP_075065
|
| 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 increasing telomerase processivity. Plays a role in shelterin complex assembly. May play a role in organogenesis. {ECO:0000269|PubMed:15181449, ECO:0000269|PubMed:16166375, ECO:0000269|PubMed:16880378, ECO:0000269|PubMed:17237768, ECO:0000269|PubMed:20231318}.
|
| Subcellular Location |
Nucleus {ECO:0000269|PubMed:15181449}. Chromosome, telomere {ECO:0000269|PubMed:15181449}.
|