InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Acd

Summary

InnateDB Protein

IDBP-188260.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Acd

Protein Name

adrenocortical dysplasia

Synonyms

Species

Mus musculus

Ensembl Protein

ENSMUSP00000048180

InnateDB Gene

IDBG-188258 (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 (By similarity). Plays a role in shelterin complex assembly. May play an essential role in organogenesis of the developing embryo. {ECO:0000250, ECO:0000269PubMed:15537664}.

Subcellular Localization

Nucleus {ECO:0000250}. Chromosome, telomere {ECO:0000305}.

Disease Associations

Note=Defects in Acd are the cause of adrenocortical dysplasia (ACD). ACD is a spontaneous autosomal recessive mouse mutant resulting from spontaneous splicing mutation of acd. ACD mice are characterized by developmental defects in organs derived from the urogenital ridge, reduced survival, poor growth, skin hyperpigmentation and adrenal insufficiency. Forty percent of the mutants died within 24 hours. Analysis of E14.5 to E17.5 embryos revealed reduced formation of caudal structure as well as limb defects.

Tissue Specificity

Ubiquitous. {ECO:0000269PubMed:15537664}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 60 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	60 [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:0001501	skeletal system development
GO:0001655	urogenital system development
GO:0006886	intracellular protein transport
GO:0016233	telomere capping
GO:0030326	embryonic limb morphogenesis
GO:0031848	protection from non-homologous end joining at telomere
GO:0032202	telomere assembly
GO:0032211	negative regulation of telomere maintenance via telomerase
GO:0035282	segmentation
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