ACD (ACD shelterin complex subunit and telomerase recruitment factor)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
65057
Gene name Gene Name - the full gene name approved by the HGNC.
ACD shelterin complex subunit and telomerase recruitment factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACD
Synonyms (NCBI Gene) Gene synonyms aliases
DKCA6, DKCB7, PIP1, PTOP, TINT1, TPP1
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
miRTarBase ID miRNA Experiments Reference
MIRT030394 hsa-miR-24-3p Microarray 19748357
MIRT1924776 hsa-miR-3911 CLIP-seq
MIRT1924777 hsa-miR-574-5p CLIP-seq
MIRT1924778 hsa-miR-759 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(56)
GO ID Ontology Definition Evidence Reference
GO:0000723 Process Telomere maintenance IDA 15181449
GO:0000723 Process Telomere maintenance IEA
GO:0000781 Component Chromosome, telomeric region HDA 19135898
GO:0000781 Component Chromosome, telomeric region IDA 15380063, 23685356, 24270157, 25172512
GO:0000781 Component Chromosome, telomeric region IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609377 25070 ENSG00000102977
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96AP0
Protein name Adrenocortical dysplasia protein homolog (POT1 and TIN2-interacting protein)
Protein 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
PDB 2I46 , 5H65 , 5I2X , 5I2Y , 5UN7 , 5XYF , 7QXA , 7QXB , 7QXS , 7S1T , 7TRE , 8SOJ , 8SOK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10341 TPP1 11 → 120 Family
Sequence 
MAGSGRLVLRPWIRELILGSETPSSPRAGQLLEVLQDAEAAVAGPSHAPDTSDVGATLLV
SDGTHSVRCLVTREALDTSDWEEKEFGFRGTEGRLLLLQDCGVHVQVAEGGAPAEFYLQV
DRFSLLPTEQPRLRVPGCNQDLDVQKKLYDCLEEHLSESTSSNAGLSLSQLLDEMREDQE
HQGALVCLAESCLTLEGPCTAPPVTHWAASRCKATGEAVYTVPSSMLCISENDQLILSSL
GPCQRTQGPELPPPDPALQDLSLTLIASPPSSPSSSGTPALPGHMSSEESGTSISLLPAL
SLAAPDPGQRSSSQPSPAICSAPATLTPRSPHASRTPSSPLQSCTPSLSPRSHVPSPHQA
LVTRPQKPSLEFKEFVGLPCKNRPPFPRTGATRGAQEPCSVWEPPKRHRDGSAFQYEYEP
PCTSLCARVQAVRLPPQLMAWALHFLMDAQPGSEPTPM
Sequence length 458
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Recognition and association of DNA glycosylase with site containing an affected purine
Cleavage of the damaged purine
Packaging Of Telomere Ends
Telomere Extension By Telomerase
DNA Damage/Telomere Stress Induced Senescence
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Dyskeratosis Congenita dyskeratosis congenita, autosomal dominant 6 rs797045144 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hereditary Isolated Aplastic Anemia hereditary isolated aplastic anemia N/A N/A GenCC
Hoyeraal-Hreidarsson Syndrome Hoyeraal-Hreidarsson syndrome N/A N/A GenCC
Show/Hide Text Mining Associations (26)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Achalasia Addisonianism Alacrimia syndrome Associate 17466001
Adrenal Insufficiency Associate 17466001
Anemia Aplastic Associate 25205116
Bone Marrow Failure Disorders Associate 25205116
Breast Neoplasms Inhibit 25219965
Cardiovascular Diseases Associate 20937264
Cataract Age Related Nuclear Inhibit 21527554
Cerebral Infarction Associate 20937264
Chronic Limb Threatening Ischemia Associate 38092392
Colorectal Neoplasms Associate 32586834