BC016904
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
57,393 Da
NCBI Official Full Name
Homo sapiens adrenocortical dysplasia homolog (mouse), mRNA
NCBI Official Synonym Full Names
adrenocortical dysplasia homolog
NCBI Protein Information
adrenocortical dysplasia protein homolog
UniProt Protein Name
Adrenocortical dysplasia protein homolog
UniProt Synonym Protein Names
POT1 and TIN2-interacting protein
UniProt Synonym Gene Names
UniProt Entry Name
ACD_HUMAN
NCBI Summary for ACD
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]
UniProt Comments for ACD
ACD: 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. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Adaptor/scaffold
Chromosomal Location of Human Ortholog: 16q22.1
Cellular Component: cytoplasm; nuclear chromosome, telomeric region; nuclear telomere cap complex; nucleoplasm; nucleus
Molecular Function: protein binding; telomeric DNA binding
Biological Process: intracellular protein transport; negative regulation of telomere maintenance via telomerase; positive regulation of telomerase activity; positive regulation of telomere maintenance via telomerase; protection from non-homologous end joining at telomere; telomere assembly; telomere capping; telomere maintenance; telomere maintenance via telomerase
Disease: Dyskeratosis Congenita, Autosomal Dominant 6
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Pathways associated with ACD cdna clone
Diseases associated with ACD cdna clone
Organs/Tissues associated with ACD cdna clone
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