Property Summary

NCBI Gene PubMed Count 52
Grant Count 21
R01 Count 11
Funding $2,637,471.05
PubMed Score 235.19
PubTator Score 78.03

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma -1.754 0.000
subependymal giant cell astrocytoma -1.624 0.008
gastric carcinoma 1.200 0.036

 GWAS Trait (1)

Gene RIF (24)

PMID Text
26345285 a novel ACD mutation(p.G223V)is detected; ACD is a novel gene involved in childhood pre-B acute lymphoblastic leukemia and may play a functional role in enhancing leukemia cell survival
25505254 Clustering of novel mutations in the POT1 binding domain of ACD was statistically higher (P = .005) in melanoma probands compared with population control individuals (n = 6785).
25205116 The data support a causal relationship between a TPP1 mutation and bone marrow disorders in a family.
24721976 Shelterin protein TPP 1 interacts with hTERT and recruits hTERT onto the telomeres, suggesting that TPP 1 might be involved in regulation of telomere shortening.
23616058 POT1-TPP1 binds telomeric DNA in a coordinated manner to facilitate assembly of the nucleoprotein complexes into a state that is more accessible to enzymatic activity.
22863003 Study shows that the OB-fold domain of the telomere-binding protein TPP1 recruits telomerase to telomeres through an association with the telomerase reverse transcriptase TERT; data define a potential interface for telomerase-TPP1 interaction required for telomere maintenance and implicate defective telomerase recruitment in telomerase-related disease.
21355086 The presence of dysfunctional telomeres in chronic lymphocytic leukemia did not correlate with telomere shortening or chromatin marks deregulation but with a down-regulation of 2 shelterin genes: ACD and TINF2.
21209389 Mouse gene deletion experiments revealed DNA-damage-response pathways that threaten chromosome ends and how the components of the telomeric shelterin complex prevent activation of these pathways.[Shelterin]
20937264 Observational study of gene-disease association. (HuGE Navigator)
20404094 TIN2-anchored TPP1 plays a major role in the recruitment of telomerase to telomeres in human cells.
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AA Sequence

MPGRCQSDAAMRVNGPASRAPAGWTSGSLHTGPRAGRPRAQARGVRGRGLLLRPRPAKELPLPRKGGAWA      1 - 70
PAGNPGPLHPLGVAVGMAGSGRLVLRPWIRELILGSETPSSPRAGQLLEVLQDAEAAVAGPSHAPDTSDV     71 - 140
GATLLVSDGTHSVRCLVTREALDTSDWEEKEFGFRGTEGRLLLLQDCGVHVQVAEGGAPAEFYLQVDRFS    141 - 210
LLPTEQPRLRVPGCNQDLDVQKKLYDCLEEHLSESTSSNAGLSLSQLLDEMREDQEHQGALVCLAESCLT    211 - 280
LEGPCTAPPVTHWAASRCKATGEAVYTVPSSMLCISENDQLILSSLGPCQRTQGPELPPPDPALQDLSLT    281 - 350
LIASPPSSPSSSGTPALPGHMSSEESGTSISLLPALSLAAPDPGQRSSSQPSPAICSAPATLTPRSPHAS    351 - 420
RTPSSPLQSCTPSLSPRSHVPSPHQALVTRPQKPSLEFKEFVGLPCKNRPPFPRTGATRGAQEPCSVWEP    421 - 490
PKRHRDGSAFQYEYEPPCTSLCARVQAVRLPPQLMAWALHFLMDAQPGSEPTPM                    491 - 544
//

Text Mined References (62)

PMID Year Title
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26345285 2015 A novel somatic mutation in ACD induces telomere lengthening and apoptosis resistance in leukemia cells.
25589350 2015 Single-strand DNA-binding protein SSB1 facilitates TERT recruitment to telomeres and maintains telomere G-overhangs.
25505254 2015 Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma.
25467444 2014 Proteostatic control of telomerase function through TRiC-mediated folding of TCAB1.
25416956 2014 A proteome-scale map of the human interactome network.
25233904 2014 Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
25205116 2014 Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.
25172512 2014 The shelterin component TPP1 is a binding partner and substrate for the deubiquitinating enzyme USP7.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
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