Homo sapiens Gene: ACD
Summary
InnateDB Gene IDBG-37133.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ACD
Gene Name adrenocortical dysplasia homolog (mouse)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000102977
Encoded Proteins
adrenocortical dysplasia homolog (mouse)
adrenocortical dysplasia homolog (mouse)
adrenocortical dysplasia homolog (mouse)
adrenocortical dysplasia homolog (mouse)
adrenocortical dysplasia homolog (mouse)
adrenocortical dysplasia homolog (mouse)
adrenocortical dysplasia homolog (mouse)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:67657512-67660815
Strand Reverse strand
Band q22.1
Transcripts
ENST00000219251 ENSP00000219251
ENST00000393919 ENSP00000377496
ENST00000620761 ENSP00000478084
ENST00000602382 ENSP00000473313
ENST00000602656
ENST00000602622
ENST00000602320 ENSP00000473679
ENST00000602860
ENST00000602850 ENSP00000473595
ENST00000602945
ENST00000602519
ENST00000602423
ENST00000602780
ENST00000602821
ENST00000620338 ENSP00000483117
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: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
Cellular Component
GO:0000781 chromosome, telomeric region
GO:0000783 nuclear telomere cap complex
GO:0005654 nucleoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Meiotic synapsis pathway
Packaging Of Telomere Ends pathway
Cellular responses to stress pathway
Chromosome Maintenance pathway
Telomere Maintenance pathway
Cell Cycle pathway
DNA Damage/Telomere Stress Induced Senescence pathway
Cellular Senescence pathway
Meiosis pathway
KEGG
INOH
PID NCI
Regulation of Telomerase
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 65057
UniGene
RefSeq NM_001082486 NM_001082487 NM_022914
HUGO HGNC:25070
OMIM 609377
CCDS CCDS42181 CCDS10842
HPRD
IMGT
EMBL AC010530 AK023726 AY502940 AY971883 BC016904
GenPept AAH16904 AAS80318 AAX82621 BAB14658
RNA Seq Atlas 65057