We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
ACD shelterin complex subunit and telomerase recruitment factor
Protein classi
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
16
Cytoband
q22.1
Chromosome location (bp)
67657512 - 67660810
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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 recruiting telomerase to telomeres and increasing its processivity. May play a role in organogenesis....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q96AP0 [Direct mapping] Adrenocortical dysplasia protein homolog
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Other congenital disorders Ribosomopathies Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000723[telomere maintenance] GO:0000781[chromosome, telomeric region] GO:0000783[nuclear telomere cap complex] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005697[telomerase holoenzyme complex] GO:0006886[intracellular protein transport] GO:0007004[telomere maintenance via telomerase] GO:0016233[telomere capping] GO:0016604[nuclear body] GO:0031848[protection from non-homologous end joining at telomere] GO:0032202[telomere assembly] GO:0032206[positive regulation of telomere maintenance] GO:0032211[negative regulation of telomere maintenance via telomerase] GO:0032212[positive regulation of telomere maintenance via telomerase] GO:0042162[telomeric DNA binding] GO:0044877[protein-containing complex binding] GO:0051973[positive regulation of telomerase activity] GO:0060381[positive regulation of single-stranded telomeric DNA binding] GO:0070182[DNA polymerase binding] GO:0070187[shelterin complex] GO:0070198[protein localization to chromosome, telomeric region] GO:0070200[establishment of protein localization to telomere]
R4GNJ5 [Direct mapping] Adrenocortical dysplasia protein homolog
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
R4GMR6 [Direct mapping] Adrenocortical dysplasia protein homolog
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
Q96AP0 [Direct mapping] Adrenocortical dysplasia protein homolog
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Other congenital disorders Ribosomopathies Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000723[telomere maintenance] GO:0000781[chromosome, telomeric region] GO:0000783[nuclear telomere cap complex] GO:0001501[skeletal system development] GO:0001655[urogenital system development] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005697[telomerase holoenzyme complex] GO:0006886[intracellular protein transport] GO:0007004[telomere maintenance via telomerase] GO:0016233[telomere capping] GO:0016604[nuclear body] GO:0030326[embryonic limb morphogenesis] GO:0031848[protection from non-homologous end joining at telomere] GO:0032202[telomere assembly] GO:0032206[positive regulation of telomere maintenance] GO:0032211[negative regulation of telomere maintenance via telomerase] GO:0032212[positive regulation of telomere maintenance via telomerase] GO:0035282[segmentation] GO:0042162[telomeric DNA binding] GO:0044877[protein-containing complex binding] GO:0051973[positive regulation of telomerase activity] GO:0060381[positive regulation of single-stranded telomeric DNA binding] GO:0070182[DNA polymerase binding] GO:0070187[shelterin complex] GO:0070198[protein localization to chromosome, telomeric region] GO:0070200[establishment of protein localization to telomere]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
