Bioinformatics Group

Institute of Molecular Biology NAS RA

TMM genes

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Gene symbolAlias/ProteinRole in TMMReference(s)PathwayStatus
MTR4part of NEXT complex, which binds to hTRs cotranscriptionally to add oligo-A tails; forms the CBCN complex with CBCA to recruit exosomes; Also component of TRAMP complex that marks immature hTRs for degradation; [22]TelomeraseVersion 0.0
Version 0.1
PARNRemoves oligo-A tails from hTRs, leading to their maturation[22]TelomeraseVersion 0.0
Version 0.1
PABN1Promotes PARN-directed hTR maturation[22]TelomeraseVersion 0.0
Version 0.1
ZCCHC7Component of TRAMP complex that marks immature hTRs for degradation; [22]TelomeraseVersion 0.0
PAPD5Component of TRAMP complex that marks immature hTRs for degradation; [22]TelomeraseVersion 0.0
Version 0.1
EXOSC10The major component of nuclear exosomes degrading immature hTRs. [22]TelomeraseVersion 0.0
Version 0.1
XRN1A component of cytoplasmic exosomes that may also degrade hTRs, after its export. [24]TelomeraseVersion 0.0
DCP2A component of cytoplasmic exosomes that may also degrade hTRs, after its export. [24]TelomeraseVersion 0.0
EXOSC3A component of nuclear exosomes that may also participate in degradation of immature hTRs. [22]TelomeraseVersion 0.0
DIS3A component of nuclear exosomes that may also participate in degradation of immature hTRs. [22]TelomeraseVersion 0.0
DKC1Dyskerin Pseudouridine Synthase 1Telomerase subunit; Part of dyskerin-NOP10-NHP2 complex, which protects hTR from degradation;[1] [5]; [17]TelomeraseVersion 0.0
Version 0.1
STUB1CHIP ubiquitin ligase cytoplasmic accumulation and degradation of hTERT[3]TelomeraseVersion 0.1
NOP10Part of dyskerin-NOP10-NHP2 complex, which protects hTR from degradation[17]TelomeraseVersion 0.0
Version 0.1
NHP2Part of dyskerin-NOP10-NHP2 complex, which protects hTR from degradation[17]TelomeraseVersion 0.0
Version 0.1
NAF1Protects hTR-Dyskerin-NOP10-NHP2 complex against degradation[17]TelomeraseVersion 0.0
Version 0.1
IPO7Importin 7Alternative nuclear import of hTERT[2]TelomeraseVersion 0.1
RANBP2Nup358Alternative nuclear import of hTERT[2]TelomeraseVersion 0.1
HSPA1AHSP70cytoplasmic accumulation and degradation of hTERT[3]TelomeraseVersion 0.1
GAR1Replaces NAF1 in Cajal bodies[17]TelomeraseVersion 0.0
Version 0.1
TERChTRRNA component of telomerase[1] [5] [6]TelomeraseVersion 0.0
Version 0.1
TERThTERTCatalytic subunit of telomerase[1]TelomeraseVersion 0.0
Version 0.1
ABL1c-Ablinhibits telomerase activity hTERT phosphorylation[4]TelomeraseVersion 0.0
KPNA1 Importin alpha 5participates in nuclear import of TERT[3]TelomeraseVersion 0.1
PKCAll subunits includedPKC-mediated phosphorylation of hTERT promotes its binding to Hsp90[3]TelomeraseVersion 0.0
NCBP1part of CBCA complex, which binds to hTRs cotranscriptionally to add 5' caps; forms the CBCN complex with NEXT to recruit exosomes; [22]TelomeraseVersion 0.0
Version 0.1
SRRTpart of CBCA complex, which binds to hTRs cotranscriptionally to add 5' caps; forms the CBCN complex with NEXT to recruit exosomes; [22]TelomeraseVersion 0.0
Version 0.1
NCBP2part of CBCA complex, which binds to hTRs cotranscriptionally to add 5' caps; forms the CBCN complex with NEXT to recruit exosomes; [22]TelomeraseVersion 0.0
Version 0.1
RBM7part of NEXT complex, which binds to hTRs cotranscriptionally to add oligo-A tails; forms the CBCN complex with CBCA to recruit exosomes; [22]TelomeraseVersion 0.0
Version 0.1
ZCCHC8part of NEXT complex, which binds to hTRs cotranscriptionally to add oligo-A tails; forms the CBCN complex with CBCA to recruit exosomes; [22]TelomeraseVersion 0.0
WRN RecQ Helicasefound at APBs, however, its role in ALT is not established, since it’s shown to be required in some, but not all of the ALT cells[12]ALTNot included
SUV39H1catalyses H3K9me3 heterochromatin assembly; deletion leads to ALT [15]ALTVersion 0.0
Version 0.1
AKTIP binds to the replication machinery component PCNA and is important for its association to replicative chromatin[23]ALTNot included
MND1Hop2-Mnd1 interaction with RAD51[8]ALTVersion 0.0
Version 0.1
KMT5CSUV420H2catalyses H4K20me3 heterochromatin assembly; deletion leads to ALT [15]ALTVersion 0.0
KMT5BSUV420H1catalyses H4K20me3 heterochromatin assembly; deletion leads to ALT [15]ALTVersion 0.0
SP100inhibits NBS1 localization in APBs. This and underexpression of MRN proteins leads to less t-circles.
[16]ALTVersion 0.0
Version 0.1
NBNComponent of MRN complex, that colocalized to HR proteins in APB bodies; depletion of MRN leads to reduced telomere length[16][27]ALTVersion 0.0
Version 0.1
MRE11AComponent of MRN complex, that colocalized to HR proteins in APB bodies; depletion of MRN leads to reduced telomere length[16][27]ALTVersion 0.0
Version 0.1
RAD50Component of MRN complex, that colocalized to HR proteins in APB bodies; depletion of MRN leads to reduced telomere length[16][27]ALTVersion 0.0
Version 0.1
SMC5Component of SMC5/6 complex, that sumoylates telomere binding proteins such as TRF1 and TRF2, leading to increased APB formation at telomeres[16][28]ALTVersion 0.0
Version 0.1
SMC6Component of SMC5/6 complex, that sumoylates telomere binding proteins such as TRF1 and TRF2, leading to increased APB formation at telomeres[16][28]ALTVersion 0.0
Version 0.1
NSMCE2Component of SMC5/6 complex, that sumoylates telomere binding proteins such as TRF1 and TRF2, leading to increased APB formation at telomeres[16][28]ALTVersion 0.0
Version 0.1
RPA4RPA subunit; RPA promotes POT1 replacement with RAD51[10]ALTVersion 0.0
Version 0.1
RPA3RPA subunit; RPA promotes POT1 replacement with RAD51[10]ALTVersion 0.0
Version 0.1
HNRNPA1inhibits replacement of POT1 with RPA[10]ALTVersion 0.0
Version 0.1
RPA2RPA subunit; RPA promotes POT1 replacement with RAD51[10]ALTVersion 0.0
Version 0.1
FEN1cleaves the RNA(TERRA):DNA hybrids; limits telomere fragility[13]ALTVersion 0.0
Version 0.1
RPA1RPA subunit; RPA promotes POT1 replacement with RAD51[10]ALTVersion 0.0
Version 0.1
DAXX[7]ALTVersion 0.0
Version 0.1
RFC1sensing telomere damage; recruitment of polymerase delta [11]ALTVersion 0.0
Version 0.1
BRCA2" RAD51 mediator function in humans is carried out by another protein, BRCA2", "controls the assembly of human RAD51 into nucleoprotein filaments as demonstrated both in vivo and in vitro"[14]ALTExpression data not available for testing
ATRX[7]ALTVersion 0.0
Version 0.1
ATRRecruitment of Hop2-Mnd1 to telomeres[9]ALTVersion 0.0
Version 0.1
RAD52positive regulator of RAD51 loading [10]ALTVersion 0.0
Version 0.1
GEN1involved in HJ resolution in the absence of telomere synthesis[10]ALTVersion 0.0
MUS81part of MUS81-EME1 complex, involved in HJ resolution in the absence of telomere synthesis[10]ALTVersion 0.0
Version 0.1
EME1part of MUS81-EME1 complex, involved in HJ resolution in the absence of telomere synthesis[10]ALTVersion 0.0
Version 0.1
SLX1Apart of SLX1-SLX4 complex, involved in HJ resolution in the absence of telomere synthesis[10]ALTVersion 0.0
Version 0.1
SLX1Bpart of SLX1-SLX4 complex, involved in HJ resolution in the absence of telomere synthesis[10]ALTVersion 0.0
Version 0.1
SLX4part of SLX1-SLX4 complex, involved in HJ resolution in the absence of telomere synthesis[10]ALTVersion 0.0
Version 0.1
BLMpart of BTR complex, involved in HJ dissolution[10]ALTVersion 0.0
Version 0.1
RMI1part of BTR complex, involved in HJ dissolution[10]ALTVersion 0.0
Version 0.1
RMI2part of BTR complex, involved in HJ dissolution[10]ALTVersion 0.0
Version 0.1
TOP3Apart of BTR complex, involved in HJ dissolution[10]ALTVersion 0.0
Version 0.1
ZNF827recruits the NuRD complex to telomeres[18]ALTVersion 0.0
Version 0.1
NR2C2TR4promotes ZNF827 directed recruitment of NuRD complex to telomeres[18]ALTVersion 0.0
NR2F2COUP-TR2promotes ZNF827 directed recruitment of NuRD complex to telomeres[18]ALTVersion 0.0
Version 0.1
HDAC9egulates the formation of APBs [18]ALTVersion 0.0
PMLconstituent of ALT associated PML bodies (APB)[18]ALTVersion 0.0
Version 0.1
BRCA1constituent of ALT associated PML bodies (APB)[19]ALTVersion 0.1
CBX5HP1constituent of ALT associated PML bodies (APB)[20]ALTVersion 0.1
HIRArequired for ALT associated PML bodies (APB) formation[20]ALTVersion 0.1
FANCD2colocalizes to APB bodies; shown to be required for ALT; [21]ALTNot included
TIMELESSthe TIMELESS/TIPIN complex suppresses telomeric mitotic DNA synthesis[21]ALTNot included
TIPINthe TIMELESS/TIPIN complex suppresses telomeric mitotic DNA synthesis[21]ALTNot included
RAD51promoter of DNA invasion in HR[10]ALTVersion 0.0
Version 0.1
PSMC3IPHOP2Hop2-Mnd1 interaction with RAD51[8]ALTVersion 0.0
Version 0.1
POT1Binds to ssDNA and protects from strand invasions[10]ALTVersion 0.0
Version 0.1
POLD4accessory subunit of polymerase delta, which is required for for break induced telomere synthesis. But unlike POLD3, its depletion does not affect ALT. But it [11]ALTNot included
POLD3critical for break induced telomere synthesis[11]ALTVersion 0.0
Version 0.1
POLD1catalytic subunit of polymerase delta, which is required for for break induced telomere synthesis. [11]ALTNot included
PCNAsensing telomere damage; recruitment of polymerase delta [11]ALTVersion 0.0
Version 0.1
SUV39H2catalyses H3K9me3 heterochromatin assembly; deletion leads to ALT [15]ALTVersion 0.0
Version 0.1
CHEK1Recruitment of Hop2-Mnd1 to telomeres[9]ALTVersion 0.0
Version 0.1
WRAP53TCAB1Binds to hTRs in Cajal bodies; the role in complex assemby is not clear. [25]TelomeraseVersion 0.0
FXR1Binds and stabilizes hTR[26]TelomeraseVersion 0.0
Version 0.1
PTGES3p23Assures proper hTERT conformation for nuclear import to take place[27]TelomeraseVersion 0.0
Version 0.1
HSP90AA1Isoform of HSP90, which assures proper hTERT conformation for nuclear import to take place[27]TelomeraseVersion 0.0
Version 0.1
HSP90AA2Isoform of HSP90, which assures proper hTERT conformation for nuclear import to take place[27]TelomeraseVersion 0.0
Version 0.1
HSP90AB1Isoform of HSP90, which assures proper hTERT conformation for nuclear import to take place[27]TelomeraseVersion 0.0
Version 0.1
RUVBL1PontinParticipates in telomerase assembly, by affecting hTR levels through its interaction with dyskerin[1] [5]; [17]TelomeraseVersion 0.0
Version 0.1
RUVBL2ReptinParticipates in telomerase assembly, by affecting hTR levels through its interaction with dyskerin[1] [5]; [17]TelomeraseVersion 0.0
Version 0.1