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Gene : ACD Homo sapiens

Name  ? ACD shelterin complex subunit and telomerase recruitment factor Cytological Location  16q22.1
Brief Description  ACD, shelterin complex subunit and telomerase recruitment factor
description  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]
  • synonyms:
  • POT1 and TIN2 organizing protein,
  • OTTHUMG00000137547,
  • PTOP,
  • Tpp1,
  • AF070535,
  • Pip1,
  • HGNC:25070,
  • TPP1,
  • TINT1,
  • ACD,
  • Ptop,
  • NM_022914,
  • TIN2 interacting protein 1,
  • PIP1,
  • adrenocortical dysplasia homolog (mouse),
  • uc002etp.5,
  • Tint1
  • identifiers:
  • 65057,
  • ENSG00000102977,
  • ACD

Genome feature

Region: gene ? Length: 3321  
Location: 16:67657512-67660832 reverse strand Cyto location: 16q22.1


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

263 SN Ps

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

90 Rna Seq Results