ACD (gene)

ACD (gene)

Identifiers Symbols ACD; PIP1; PTOP; TINT1; TPP1 External IDs OMIM: 609377 MGI: 87873 HomoloGene: 23391 GeneCards: ACD Gene

Gene Ontology
Molecular function	• DNA binding • protein binding • DNA polymerase binding
Cellular component	• chromosome, telomeric region • nuclear telomere cap complex • nucleoplasm
Biological process	• telomere maintenance • skeletal system development • urogenital system development • intracellular protein transport • telomere capping • embryonic limb morphogenesis • protection from non-homologous end joining at telomere • telomere assembly • negative regulation of telomere maintenance via telomerase • segmentation • positive regulation of telomerase activity • positive regulation of single-stranded telomeric DNA binding • protein localization to chromosome, telomeric region
Sources: Amigo / QuickGO

RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 65057 497652 Ensembl ENSG00000102977 ENSMUSG00000038000 UniProt Q96AP0 B2RS36 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

Adrenocortical dysplasia protein homolog is a protein that in humans is encoded by the ACD gene.

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.