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DISEASES
The following proteins in
Homo sapiens
appear to match your input.
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1) '9606.TERC':
- - Sorry, STRING found no proteins by this name in Homo sapiens - -
2) '9606.ENSP00000498499':
CTC1 - CST complex subunit CTC1; Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation. However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST comp [...]
[a.k.a. CTC1-214, URS0000D6E982, XR_001752643.1]
3) '9606.ENSP00000353332':
RTEL1 - Regulator of telomere elongation helicase 1; ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by [...]
[a.k.a. bK3184A7.3, ENST00000469728, DKFZP434C013]
4) '9606.ENSP00000358563':
DKC1 - H/ACA ribonucleoprotein complex subunit DKC1; [Isoform 1]: Catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Required for ribosome biogenesis and telomere maintenance. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telom [...]
[a.k.a. ENST00000475423, 5.4.99.-, HPA000166]
5) '9606.ENSP00000309572':
TERT - Telomerase reverse transcriptase; Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. Catalyzes the RNA-dependent extension of 3'-chromosomal termini with the 6-nuc [...]
[a.k.a. ENST00000484238.6, uc003jcb.2, R-HSA-162582]
6) '9606.ENSP00000274606':
NHP2 - H/ACA ribonucleoprotein complex subunit 2; Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse tran [...]
[a.k.a. CCDS34308, ENSP00000366276, NHP2_HUMAN]
7) '9606.ENSP00000267415':
TINF2 - TERF1-interacting nuclear factor 2; 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 protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Plays a role in shelterin complex assembly. Isoform 1 may have additional role in tethering telomeres to the nuclear matrix.
[a.k.a. NM_012461.2, XP_016876705, R-HSA-1474165]
8) '9606.ENSP00000332198':
NOP10 - H/ACA ribonucleoprotein complex subunit 3; Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse tran [...]
[a.k.a. ENST00000557912, CCDS10037.1, NOLA3]
9) '9606.ENSP00000324203':
WRAP53 - Telomerase Cajal body protein 1; RNA chaperone that plays a key role in telomere maintenance and RNA localization to Cajal bodies. Specifically recognizes and binds the Cajal body box (CAB box) present in both small Cajal body RNAs (scaRNAs) and telomerase RNA template component (TERC). Essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex essential for the replication of chromosome termini that elongates telomeres in most eukaryotes. In the telomerase holoenzyme complex, required to stimulate the catalytic activity of the complex. Acts by specifically b [...]
[a.k.a. UPI0002840E15, NP_001137462.1, NP_001137462]
10) '9606.ENSP00000387911':
PARN - Poly(A)-specific ribonuclease PARN; 3'-exoribonuclease that has a preference for poly(A) tails of mRNAs, thereby efficiently degrading poly(A) tails. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs and is also used to silence certain maternal mRNAs translationally during oocyte maturation and early embryonic development. Interacts with both the 3'-end poly(A) tail and the 5'-end cap structure during degradation, the interaction with the cap structure being required for an efficient degradation of poly(A) tails. Involved in nonsens [...]
[a.k.a. R-HSA-450604, AJ005698, PARN-225]