ACD (gene)

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Adrenocortical dysplasia homolog (mouse)
Protein ACD PDB 2i46.png
PDB rendering based on 2i46.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ACD ; PIP1; PTOP; TINT1; TPP1
External IDs OMIM609377 MGI87873 HomoloGene23391 GeneCards: ACD Gene
RNA expression pattern
PBB GE ACD 204617 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 65057 497652
Ensembl ENSG00000102977 ENSMUSG00000038000
UniProt Q96AP0 Q5EE38
RefSeq (mRNA) NM_001082486 NM_001012638
RefSeq (protein) NP_001075955 NP_001012656
Location (UCSC) Chr 16:
67.69 – 67.69 Mb
Chr 8:
105.7 – 105.7 Mb
PubMed search [1] [2]

Adrenocortical dysplasia protein homolog is a protein that in humans is encoded by the ACD gene.[1][2][3]

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.[3]

Interactions[edit]

ACD (gene) has been shown to interact with POT1[1][2][4] and TINF2.[1][2]

References[edit]

  1. ^ a b c Ye JZ, Hockemeyer D, Krutchinsky AN, Loayza D, Hooper SM, Chait BT, de Lange T (July 2004). "POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex". Genes Dev 18 (14): 1649–54. doi:10.1101/gad.1215404. PMC 478187. PMID 15231715. 
  2. ^ a b c Liu D, Safari A, O'Connor MS, Chan DW, Laegeler A, Qin J, Songyang Z (July 2004). "PTOP interacts with POT1 and regulates its localization to telomeres". Nat Cell Biol 6 (7): 673–80. doi:10.1038/ncb1142. PMID 15181449. 
  3. ^ a b "Entrez Gene: ACD adrenocortical dysplasia homolog (mouse)". 
  4. ^ Rual, Jean-François; Venkatesan Kavitha, Hao Tong, Hirozane-Kishikawa Tomoko, Dricot Amélie, Li Ning, Berriz Gabriel F, Gibbons Francis D, Dreze Matija, Ayivi-Guedehoussou Nono, Klitgord Niels, Simon Christophe, Boxem Mike, Milstein Stuart, Rosenberg Jennifer, Goldberg Debra S, Zhang Lan V, Wong Sharyl L, Franklin Giovanni, Li Siming, Albala Joanna S, Lim Janghoo, Fraughton Carlene, Llamosas Estelle, Cevik Sebiha, Bex Camille, Lamesch Philippe, Sikorski Robert S, Vandenhaute Jean, Zoghbi Huda Y, Smolyar Alex, Bosak Stephanie, Sequerra Reynaldo, Doucette-Stamm Lynn, Cusick Michael E, Hill David E, Roth Frederick P, Vidal Marc (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature (England) 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. 

Further reading[edit]

  • Wang F, Podell ER, Zaug AJ, et al. (2007). "The POT1-TPP1 telomere complex is a telomerase processivity factor.". Nature 445 (7127): 506–10. doi:10.1038/nature05454. PMID 17237768.