| Type | Description |
|---|---|
| Definition | ACD shelterin complex subunit and telomerase recruitment factor |
| Date | Results | Publications |
|---|---|---|
| 2020-11-28 13:12:00 | Pulmonary fibrosis linked to variants in the ACD gene, encoding the telomere protein TPP1. | 31515401 |
| 2020-06-20 11:20:00 | Authors found that TPP1(ACD) upon binding to TIN2 induces changes that expand TIN2 binding capacity, such that TIN2 can accommodate both TRF1 and TRF2 simultaneously. Authors suggest a molecular model that explains why ACD is essential for the stable formation of TRF1-TIN2-TRF2 core complex. | 31158366 |
| 2020-04-25 12:42:00 | The assembly of telomere ssDNA substrates of differing lengths bound by POT1-TPP1 heterodimers was affected by a POT1 missense mutation. There was a telomerase inhibitory role when several native POT1-TPP1 proteins coat physiologically relevant lengths of telomere ssDNA. | 31685617 |
| 2020-03-07 12:14:00 | All of the TIN2 isoforms stimulated telomerase to similar extents. Mutations in the TPP1 TEL patch abrogated this stimulation, suggesting that TIN2 functions with TPP1/POT1 to stimulate telomerase processivity. | 31383750 |
| 2019-09-21 11:15:00 | Missense variant rs149418249 in the 11th exon of TPP1 (ACD) is significantly associated with colorectal cancer risk. | 29891727 |
| Type | IDs |
|---|---|
| Synonymous | PIP1, PTOP, TINT1, TPP1 |
| Gene |
UniProtKB-ID:
ACD_HUMAN,
A0A590TQL1_HUMAN
UniprotKB:
Q96AP0,
A0A590TQL1
UniParc:
UPI00001FF440,
UPI0000246BB2,
UPI000DA762F8
EMBL:
AK023726,
AY971883,
CH471092,
BC016904,
AY502940,
AC010530
Ensembl:
ENSG00000102977
KO:
hsa:65057
|
| Nucleutide sequences |
EMBL-CDS:
AAX82621.1,
AAH16904.1,
AAS80318.1,
BAB14658.1,
EAW83154.1
Gene_ORFName:
hCG_27140
Ensembl_TRS:
ENST00000620761,
ENST00000219251,
ENST00000620338
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000219251,
ENSP00000478084,
ENSP00000483117
RefSeq:
NP_075065.3,
NP_001075955.2,
XP_005256172.1
|
| Others |
UniRef100:
UniRef100_Q96AP0
UniRef90:
UniRef90_Q96AP0
UniRef50:
UniRef50_Q96AP0
UniGene:
Hs.78019
CCDS:
CCDS10842.1,
CCDS42181.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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