Version 5.4
Homo sapiens Protein: ACD
Summary
InnateDB Protein IDBP-242637.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ACD
Protein Name adrenocortical dysplasia homolog (mouse)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000377496
InnateDB Gene IDBG-37133 (ACD)
Protein Structure
UniProt Annotation
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:0000269PubMed:15181449, ECO:0000269PubMed:16166375, ECO:0000269PubMed:16880378, ECO:0000269PubMed:17237768, ECO:0000269PubMed:20231318}.
Subcellular Localization Nucleus {ECO:0000269PubMed:15181449}. Chromosome, telomere {ECO:0000269PubMed:15181449}.
Disease Associations
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 74 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 74 [view]
Protein-Protein 73 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0070182 DNA polymerase binding
Biological Process
GO:0000723 telomere maintenance
GO:0006886 intracellular protein transport
GO:0016233 telomere capping
GO:0031848 protection from non-homologous end joining at telomere
GO:0032202 telomere assembly
GO:0032211 negative regulation of telomere maintenance via telomerase
GO:0051973 positive regulation of telomerase activity
GO:0060381 positive regulation of single-stranded telomeric DNA binding
GO:0070198 protein localization to chromosome, telomeric region
Cellular Component
GO:0000781 chromosome, telomeric region
GO:0000783 nuclear telomere cap complex
GO:0005654 nucleoplasm
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96AP0
PhosphoSite PhosphoSite-Q96AP0
TrEMBL
UniProt Splice Variant
Entrez Gene 65057
UniGene Hs.78019
RefSeq
HUGO HGNC:25070
OMIM 609377
CCDS CCDS42181
HPRD 12417
IMGT
EMBL AC010530 AK023726 AY502940 AY971883 BC016904
GenPept AAH16904 AAS80318 AAX82621 BAB14658

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca