ACD (ACD shelterin complex subunit and telomerase recruitment factor)

2007-04-01  

Identity

HGNC
LOCATION
16q22.1
LOCUSID
ALIAS
PIP1,PTOP,TINT1,TPP1

Other Information

Locus ID:

NCBI: 65057
MIM: 609377
HGNC: 25070
Ensembl: ENSG00000102977

Variants:

dbSNP: 65057
ClinVar: 65057
TCGA: ENSG00000102977
COSMIC: ACD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102977ENST00000219251Q96AP0
ENSG00000102977ENST00000219251A0A3F2YNW4
ENSG00000102977ENST00000602320R4GNJ5
ENSG00000102977ENST00000602382R4GMR6
ENSG00000102977ENST00000602850R4GND4
ENSG00000102977ENST00000620338A0A590TQL1
ENSG00000102977ENST00000620761Q96AP0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Shelterin complexKEGGhsa_M00424
Shelterin complexKEGGM00424
Cell CycleREACTOMER-HSA-1640170
Chromosome MaintenanceREACTOMER-HSA-73886
Telomere MaintenanceREACTOMER-HSA-157579
Packaging Of Telomere EndsREACTOMER-HSA-171306
MeiosisREACTOMER-HSA-1500620
Meiotic synapsisREACTOMER-HSA-1221632
Cellular responses to stressREACTOMER-HSA-2262752
Cellular SenescenceREACTOMER-HSA-2559583
DNA Damage/Telomere Stress Induced SenescenceREACTOMER-HSA-2559586

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
172377682007The POT1-TPP1 telomere complex is a telomerase processivity factor.292
172377672007TPP1 is a homologue of ciliate TEBP-beta and interacts with POT1 to recruit telomerase.229
151814492004PTOP interacts with POT1 and regulates its localization to telomeres.169
231038652012The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity.144
228630032012TPP1 OB-fold domain controls telomere maintenance by recruiting telomerase to chromosome ends.130
153800632004A dynamic molecular link between the telomere length regulator TRF1 and the chromosome end protector TRF2.117
204040942010TIN2-tethered TPP1 recruits human telomerase to telomeres in vivo.113
168803782006A critical role for TPP1 and TIN2 interaction in high-order telomeric complex assembly.94
176325222007Telomere protection by mammalian Pot1 requires interaction with Tpp1.86
200940332010POT1-TPP1 enhances telomerase processivity by slowing primer dissociation and aiding translocation.81

Citation

Dessen P

ACD (ACD shelterin complex subunit and telomerase recruitment factor)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46714/acd-(acd-shelterin-complex-subunit-and-telomerase-recruitment-factor)