InnateDB Protein
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IDBP-37135.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ACD
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Protein Name
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adrenocortical dysplasia homolog (mouse)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000219251
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InnateDB Gene
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IDBG-37133 (ACD)
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Protein Structure
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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}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:15181449}. Chromosome, telomere {ECO:0000269PubMed:15181449}.
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Disease Associations |
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Tissue Specificity |
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
73
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
GO:0000723
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telomere maintenance
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GO:0006886
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intracellular protein transport
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GO:0016233
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telomere capping
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GO:0031848
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protection from non-homologous end joining at telomere
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GO:0032202
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telomere assembly
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GO:0032211
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negative regulation of telomere maintenance via telomerase
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GO:0051973
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positive regulation of telomerase activity
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GO:0060381
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positive regulation of single-stranded telomeric DNA binding
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GO:0070198
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protein localization to chromosome, telomeric region
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q96AP0
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PhosphoSite |
PhosphoSite-Q96AP0
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
65057
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UniGene |
Hs.78019
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RefSeq |
NP_075065
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HUGO |
HGNC:25070
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OMIM |
609377
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CCDS |
CCDS10842
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HPRD |
12417
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IMGT |
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EMBL |
AC010530
AK023726
AY502940
AY971883
BC016904
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GenPept |
AAH16904
AAS80318
AAX82621
BAB14658
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