ACD (ACD shelterin complex subunit and telomerase recruitment factor)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 65057
Gene name ACD shelterin complex subunit and telomerase recruitment factor
Gene symbol ACD
Synonyms (NCBI Gene)
DKCA6DKCB7PIP1PTOPTINT1TPP1
Chromosome 16
Chromosome location 16q22.1
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
miRNA miRNA information provided by mirtarbase database.
4
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
56
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609377 25070 ENSG00000102977
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Dyskeratosis congenita, autosomal dominant 6 Pathogenic; Likely pathogenic rs797045144, rs759257949, rs1277350671, rs1303559181 RCV000190903
RCV004585160
RCV001523790
RCV001523791
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dyskeratosis congenita, autosomal recessive 7 Pathogenic rs797045144 RCV000190904
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (11)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ACD-related disorder Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ACD-related short telomere syndrome Conflicting classifications of pathogenicity ClinVar
Disgenet
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
FAMILIAL MELANOMA — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome Benign; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (209)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 3-hydroxyacyl-CoA Dehydrogenase Deficiency BEFREE 11073228
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 10320038
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis CTD_human_DG 10320038, 11589009
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Early Onset Alzheimer disease CTD_human_DG 10320038
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease CTD_human_DG 10320038
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease CTD_human_DG 10320038
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease, Focal Onset Alzheimer disease CTD_human_DG 10320038
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis cutis dyschromia Amyloidosis Cutis Dyschromia BEFREE 15520767, 20127035
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 30669930
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only