• Gene id: 65057

Gene Summary

• Gene Symbol: ACD   Gene   UCSC   Ensembl
• Aliases: PIP1, PTOP, TINT1, TPP1
• Gene name: ACD shelterin complex subunit and telomerase recruitment factor
• Alternate names: adrenocortical dysplasia protein homolog, POT1 and TIN2-interacting protein, TIN2 interacting protein 1, adrenocortical dysplasia homolog,
• Gene location: 16q22.1 (67660831: 67657511)     Exons: 12     NC_000016.10
• Gene summary(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
• OMIM: 609377

Protein Summary

• Protein general information: Q96AP0  
  • Name: Adrenocortical dysplasia protein homolog (POT1 and TIN2 interacting protein)
  • Length: 458  
  • Mass: 48967
• Sequence:

  MAGSGRLVLRPWIRELILGSETPSSPRAGQLLEVLQDAEAAVAGPSHAPDTSDVGATLLVSDGTHSVRCLVTREA
  LDTSDWEEKEFGFRGTEGRLLLLQDCGVHVQVAEGGAPAEFYLQVDRFSLLPTEQPRLRVPGCNQDLDVQKKLYD
  CLEEHLSESTSSNAGLSLSQLLDEMREDQEHQGALVCLAESCLTLEGPCTAPPVTHWAASRCKATGEAVYTVPSS
  MLCISENDQLILSSLGPCQRTQGPELPPPDPALQDLSLTLIASPPSSPSSSGTPALPGHMSSEESGTSISLLPAL
  SLAAPDPGQRSSSQPSPAICSAPATLTPRSPHASRTPSSPLQSCTPSLSPRSHVPSPHQALVTRPQKPSLEFKEF
  VGLPCKNRPPFPRTGATRGAQEPCSVWEPPKRHRDGSAFQYEYEPPCTSLCARVQAVRLPPQLMAWALHFLMDAQ
  PGSEPTPM

• Structural information:
  • Interpro: IPR028631  
  • PDB: 2I46 5H65 5I2X 5I2Y 5UN7 5XYF
  • PDBsum: 2I46 5H65 5I2X 5I2Y 5UN7 5XYF
  • DIP: 29611
  • STRING: ENSP00000483117
• Other Databases: GeneCards:  ACD  Malacards:  ACD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000783	nuclear telomere cap complex	IBA	cellular component
GO:0016233	telomere capping	IBA	biological process
GO:0070187	shelterin complex	IBA	cellular component
GO:0032211	negative regulation of telomere maintenance via telomerase	IBA	biological process
GO:0042162	telomeric DNA binding	IBA	molecular function
GO:0051973	positive regulation of telomerase activity	IBA	biological process
GO:0070198	protein localization to chromosome, telomeric region	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000723	telomere maintenance	IEA	biological process
GO:0000783	nuclear telomere cap complex	IEA	cellular component
GO:0016233	telomere capping	IEA	biological process
GO:0070187	shelterin complex	IEA	cellular component
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000723	telomere maintenance	IDA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0016233	telomere capping	TAS	biological process
GO:0016233	telomere capping	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042162	telomeric DNA binding	IDA	molecular function
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0070182	DNA polymerase binding	IPI	molecular function
GO:0070187	shelterin complex	IDA	cellular component
GO:0070187	shelterin complex	IDA	cellular component
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0070200	establishment of protein localization to telomere	IMP	biological process
GO:0070187	shelterin complex	IMP	cellular component
GO:0070182	DNA polymerase binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070198	protein localization to chromosome, telomeric region	IDA	biological process
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0016233	telomere capping	IDA	biological process
GO:0070200	establishment of protein localization to telomere	TAS	biological process
GO:0070187	shelterin complex	TAS	cellular component
GO:0000784	nuclear chromosome, telomeric region	HDA	cellular component
GO:0032211	negative regulation of telomere maintenance via telomerase	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0070182	DNA polymerase binding	IPI	molecular function
GO:0000783	nuclear telomere cap complex	IDA	cellular component
GO:0060381	positive regulation of single-stranded telomeric DNA binding	IDA	biological process
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0051973	positive regulation of telomerase activity	IDA	biological process
GO:0016233	telomere capping	NAS	biological process
GO:0016233	telomere capping	IGI	biological process
GO:0006886	intracellular protein transport	IMP	biological process
GO:0031848	protection from non-homologous end joining at telomere	ISS	biological process
GO:0032202	telomere assembly	IMP	biological process
GO:0032211	negative regulation of telomere maintenance via telomerase	IMP	biological process
GO:0032211	negative regulation of telomere maintenance via telomerase	IGI	biological process
GO:0070198	protein localization to chromosome, telomeric region	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0032212	positive regulation of telomere maintenance via telomerase	IDA	biological process
GO:0016233	telomere capping	TAS	biological process
GO:0032211	negative regulation of telomere maintenance via telomerase	TAS	biological process
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016604	nuclear body	IDA	cellular component

Diseases

Associated diseases	References
Dyskeratosis congenita	KEGG:H00507
Dyskeratosis congenita	KEGG:H00507
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray