Bioinformatics Group

Institute of Molecular Biology NAS RA

TMM genes

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Gene symbolAlias/ProteinRole in TMMReference(s)PathwayStatus
MTR4MTREXpart 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; (Chi-Kang et al., 2015), (Tseng et al., 2015)TelomeraseVersion 0.0
Version 1.0
Version 2.0
TENT4BPAPD5Catalytic subunit of the TRAMP complex.(Tseng et al., 2015), (Moon et al., 2015)TelomeraseVersion 2.0
PARNRemoves oligo-A tails from hTRs, leading to their maturation(Tseng et al., 2015), (Moon et al., 2015), (Boyraz et al., 2016))TelomeraseVersion 0.0
Version 1.0
Version 2.0
PABN1Promotes PARN-directed hTR maturation(Tseng et al., 2015)TelomeraseVersion 0.0
Version 1.0
ZCCHC7AIR2Component of TRAMP complex that marks immature hTRs for degradation;(Tseng et al., 2015)TelomeraseVersion 0.0
Version 2.0
PAPD5Component of TRAMP complex that marks immature hTRs for degradation;(Tseng et al., 2015)TelomeraseVersion 0.0
Version 1.0
EXOSC10The major component of nuclear exosomes degrading immature hTRs.(Tseng et al., 2015)TelomeraseVersion 0.0
Version 1.0
XRN1A component of cytoplasmic exosomes that may also degrade hTRs, after its export. (Shukla et al., 2016)TelomeraseVersion 0.0
DCP2A component of cytoplasmic exosomes that may also degrade hTRs, after its export. (Shukla et al., 2016)TelomeraseVersion 0.0
EXOSC3A component of nuclear exosomes that may also participate in degradation of immature hTRs.(Tseng et al., 2015)TelomeraseVersion 0.0
DIS3A component of nuclear exosomes that may also participate in degradation of immature hTRs.(Tseng et al., 2015)TelomeraseVersion 0.0
DKC1Dyskerin Pseudouridine Synthase 1Telomerase subunit; Part of dyskerin-NOP10-NHP2 complex, which protects hTR from degradation;(Cohen et al., 2007), (Penzo et al., 2015), (Shukla et al., 2016)TelomeraseVersion 0.0
Version 1.0
STUB1CHIP ubiquitin ligasecytoplasmic accumulation and degradation of hTERT(Jeong et al., 2015), (Lee et al., 2010)TelomeraseVersion 0.0
Version 1.0
Version 2.0
NOP10Part of dyskerin-NOP10-NHP2 complex, which protects hTR from degradation(Schmidt and Cech, 2015)TelomeraseVersion 0.0
Version 1.0
Version 2.0
NHP2Part of dyskerin-NOP10-NHP2 complex, which protects hTR from degradation(Schmidt and Cech, 2015)TelomeraseVersion 0.0
Version 1.0
Version 2.0
NAF1Protects hTR-Dyskerin-NOP10-NHP2 complex against degradation(Schmidt and Cech, 2015)TelomeraseVersion 0.0
Version 1.0
Version 2.0
IPO7Importin 7Alternative nuclear import of hTERT(Frohnert et al., 2014)TelomeraseVersion 0.0
Version 1.0
Version 2.0
RANBP2Nup358Alternative nuclear import of hTERT(Frohnert et al., 2014)TelomeraseVersion 0.0
Version 1.0
Version 2.0
HSPA1AHSP70cytoplasmic accumulation and degradation of hTERT(Jeong et al., 2015)TelomeraseVersion 1.0
GAR1Replaces NAF1 in Cajal bodies(Schmidt and Cech, 2015)TelomeraseVersion 0.0
Version 1.0
Version 2.0
TERChTRRNA component of telomerase(Cohen et al., 2007), (Penzo et al., 2015), (Cayuela et al., 2005)TelomeraseVersion 0.0
Version 1.0
Version 2.0
TERThTERTCatalytic subunit of telomerase(Cohen et al., 2007)Telomerase, ALTVersion 0.0
Version 1.0
Version 2.0
ABL1c-Ablinhibits telomerase activity hTERT phosphorylation(Kharbanda et al., 2000)TelomeraseVersion 0.0
KPNA1Importin alpha 5participates in nuclear import of hTERT(Jeong et al., 2015)TelomeraseVersion 0.0
Version 1.0
Version 2.0
RANGTPase that affects disassembly of importin-cargo complexes and is important for importin alpha 5 mediated nuclear import of hTERT.(Jeong et al., 2015)TelomeraseVersion 2.0
KPNB1Importin beta 1participates in nuclear import of hTERT(Jeong et al., 2015)TelomeraseTo be tested
PKCAll subunits includedPKC-mediated phosphorylation of hTERT promotes its binding to Hsp90(Chang et al., 2006)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; (Tseng et al., 2015)TelomeraseVersion 0.0
Version 1.0
SRRTpart of CBCA complex, which binds to hTRs cotranscriptionally to add 5' caps; forms the CBCN complex with NEXT to recruit exosomes; (Tseng et al., 2015)TelomeraseVersion 0.0
Version 1.0
NCBP2part of CBCA complex, which binds to hTRs cotranscriptionally to add 5' caps; forms the CBCN complex with NEXT to recruit exosomes; (Tseng et al., 2015)TelomeraseVersion 0.0
Version 1.0
RBM7part of NEXT complex, which binds to hTRs cotranscriptionally to add oligo-A tails; forms the CBCN complex with CBCA to recruit exosomes; (Tseng et al., 2015)TelomeraseVersion 0.0
Version 1.0
ZCCHC8part of NEXT complex, which binds to hTRs cotranscriptionally to add oligo-A tails; forms the CBCN complex with CBCA to recruit exosomes; (Tseng et al., 2015)TelomeraseVersion 0.0
WRNRecQ 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(Gocha et al., 2014)ALTNot included
SUV39H1catalyses H3K9me3 heterochromatin assembly; deletion leads to ALT(Blasco, 2007)ALTVersion 0.0
Version 1.0
AKTIPbinds to the replication machinery component PCNA and is important for its association to replicative chromatin(Burla et al., 2016)ALTTo be tested
MND1Hop2-Mnd1 interaction with RAD51(Cho et al., 2014)ALTVersion 0.0
Version 1.0
Version 2.0
KMT5CSUV420H2catalyses H4K20me3 heterochromatin assembly; deletion leads to ALT(Blasco, 2007)ALTVersion 0.0
KMT5BSUV420H1catalyses H4K20me3 heterochromatin assembly; deletion leads to ALT(Blasco, 2007)ALTVersion 0.0
SP100inhibits NBS1 localization in APBs. This and underexpression of MRN proteins leads to less t-circles.
(Jiang et al., 2005)ALTVersion 0.0
Version 1.0
Version 2.0
NBNComponent of MRN complex, that colocalized to HR proteins in APB bodies; depletion of MRN leads to reduced telomere length(Jiang et al., 2005), (Zhong et al., 2007), (Lafrance-Vanasse et al., 2015)ALTVersion 0.0
Version 1.0
Version 2.0
MRE11AComponent of MRN complex, that colocalized to HR proteins in APB bodies; depletion of MRN leads to reduced telomere length(Jiang et al., 2005), (Zhong et al., 2007), (Lafrance-Vanasse et al., 2015)ALTVersion 0.0
Version 1.0
Version 2.0
RAD50Component of MRN complex, that colocalized to HR proteins in APB bodies; depletion of MRN leads to reduced telomere length(Jiang et al., 2005), (Zhong et al., 2007), (Lafrance-Vanasse et al., 2015)ALTVersion 0.0
Version 1.0
Version 2.0
SMC5Component of SMC5/6 complex, that sumoylates telomere binding proteins such as TRF1 and TRF2, leading to increased APB formation at telomeres(Jiang et al., 2005), (Reddel et al., 2012), (Aragón, 2018 ), (Potts and Yu, 2007)ALTVersion 0.0
Version 1.0
Version 2.0
SMC6Component of SMC5/6 complex, that sumoylates telomere binding proteins such as TRF1 and TRF2, leading to increased APB formation at telomeres(Jiang et al., 2005), (Reddel et al., 2012), (Aragón, 2018 ), (Potts and Yu, 2007)ALTVersion 0.0
Version 1.0
Version 2.0
NSMCE2Component of SMC5/6 complex, that sumoylates telomere binding proteins such as TRF1 and TRF2, leading to increased APB formation at telomeres(Jiang et al., 2005), (Reddel et al., 2012), (Aragón, 2018 ), (Potts and Yu, 2007)ALTVersion 0.0
Version 1.0
Version 2.0
RPA4RPA subunit; RPA promotes POT1 replacement with RAD51(Pickett et al., 2015)ALTVersion 0.0
Version 1.0
RPA3RPA subunit; RPA promotes POT1 replacement with RAD51(Pickett et al., 2015), (Flynn et al., 2012)ALTVersion 0.0
Version 1.0
Version 2.0
HNRNPA1inhibits replacement of POT1 with RPA(Pickett et al., 2015), (Flynn et al., 2012)ALTVersion 0.0
Version 1.0
Version 2.0
RPA2RPA subunit; RPA promotes POT1 replacement with RAD51(Pickett et al., 2015), (Flynn et al., 2012)ALTVersion 0.0
Version 1.0
Version 2.0
FEN1cleaves the RNA(TERRA):DNA hybrids; limits telomere fragility(Teasley et al., 2015)ALTVersion 0.0
Version 1.0
RPA1RPA subunit; RPA promotes POT1 replacement with RAD51(Pickett et al., 2015), (Flynn et al., 2012)ALTVersion 0.0
Version 1.0
Version 2.0
DAXX(Lovejoy et al., 2012), (Dyer et al., 2017)ALTVersion 0.0
Version 1.0
Version 2.0
RFC1sensing telomere damage; recruitment of polymerase delta(Dilley et al., 2016)ALTVersion 0.0
Version 1.0
Version 2.0
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"(Krejci et al., 2012)ALTExpression data not available for testing
H3F3AH3.3 histone variant. Suppresses formation of G4 structures at telomeres, which are replication fork barriers at telomeres, trigger fork stalling and restart by homology directed repair, and are HR substrates. The purpose of H3.3 deposition at telomeres remains unclear. (Dyer et al., 2017), (Clynes et al., 2015)ALTVersion 2.0
ATRX(Lovejoy et al., 2012), (Dyer et al., 2017), (Clynes et al., 2015)ALTVersion 0.0
Version 1.0
Version 2.0
ATRRecruitment of Hop2-Mnd1 to telomereshttps://www.ncbi.nlm.nih.gov/pubmed/27760120, (Flynn et al., 2012), (Flynn et al., 2015) , (Deeg et al., 2016), (Dilley et al., 2016),ALTVersion 0.0
Version 1.0
Version 2.0
RAD52positive regulator of RAD51 loading(Pickett et al., 2015), (Min et al., 2019), (Jia-Min Zhang et al., 2019)ALTVersion 0.0
Version 1.0
Version 2.0
GEN1involved in HJ resolution in the absence of telomere synthesis(Pickett et al., 2015)ALTVersion 0.0
MUS81part of MUS81-EME1 complex, involved in HJ resolution in the absence of telomere synthesis(Pickett et al., 2015)ALTVersion 0.0
Version 1.0
EME1part of MUS81-EME1 complex, involved in HJ resolution in the absence of telomere synthesis(Pickett et al., 2015)ALTVersion 0.0
Version 1.0
SLX1Apart of SLX1-SLX4 complex, involved in HJ resolution in the absence of telomere synthesis(Pickett et al., 2015), (Sobinoff et al., 2017)ALTVersion 0.0
Version 1.0
Version 2.0
SLX1Bpart of SLX1-SLX4 complex, involved in HJ resolution in the absence of telomere synthesis(Pickett et al., 2015), (Sobinoff et al., 2017)ALTVersion 0.0
Version 1.0
Version 2.0
SLX4part of SLX1-SLX4 complex, involved in HJ resolution in the absence of telomere synthesis(Pickett et al., 2015), (Sobinoff et al., 2017)ALTVersion 0.0
Version 1.0
Version 2.0
BLMpart of BTR complex, involved in HJ dissolution(Pickett et al., 2015), (Sobinoff et al., 2017)ALTVersion 0.0
Version 1.0
Version 2.0
RMI1part of BTR complex, involved in HJ dissolution(Pickett et al., 2015), (Sobinoff et al., 2017)ALTVersion 0.0
Version 1.0
Version 2.0
RMI2part of BTR complex, involved in HJ dissolution(Pickett et al., 2015), (Sobinoff et al., 2017)ALTVersion 0.0
Version 1.0
Version 2.0
TOP3Apart of BTR complex, involved in HJ dissolution(Pickett et al., 2015), (Sobinoff et al., 2017)ALTVersion 0.0
Version 1.0
Version 2.0
ZNF827recruits the NuRD complex to telomeres(Conomos et al., 2014)ALTVersion 0.0
Version 1.0
Version 2.0
NR2C2TR4promotes ZNF827 directed recruitment of NuRD complex to telomeres(Conomos et al., 2014)ALTVersion 0.0
Version 2.0
NR2F2COUP-TR2promotes ZNF827 directed recruitment of NuRD complex to telomeres(Conomos et al., 2014)ALTVersion 0.0
Version 1.0
Version 2.0
HDAC9egulates the formation of APBs(Jamiruddin et al., 2016)ALTVersion 0.0
PMLconstituent of ALT associated PML bodies (APB)(Grobelny et al., 2000), (Chung et al., 2012)ALTVersion 0.0
Version 1.0
Version 2.0
BRCA1constituent of ALT associated PML bodies (APB)(Wu et al., 2003)ALTVersion 1.0
CBX5HP1constituent of ALT associated PML bodies (APB)(Jiang et al., 2011)ALTVersion 1.0
HIRArequired for ALT associated PML bodies (APB) formation(Jiang et al., 2011)ALTVersion 1.0
FANCD2colocalizes to APB bodies; shown to be required for ALT;(Fan et al., 2009)ALTNot included
TIMELESSthe TIMELESS/TIPIN complex suppresses telomeric mitotic DNA synthesis(Min et al., 2017)ALTNot included
TIPINthe TIMELESS/TIPIN complex suppresses telomeric mitotic DNA synthesis(Min et al., 2017)ALTNot included
RAD51promoter of DNA invasion in HR(Pickett et al., 2015), (Cho et al., 2014), (Jia-Min Zhang et al., 2019)ALTVersion 0.0
Version 1.0
Version 2.0
PSMC3IPHOP2Hop2-Mnd1 interaction with RAD51(Cho et al., 2014)ALTVersion 0.0
Version 1.0
Version 2.0
POT1Binds to ssDNA and protects from strand invasions(Winkel et al., 1989), (Flynn et al., 2012)ALTVersion 0.0
Version 1.0
Version 2.0
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 (Dilley et al., 2016)ALTNot included
POLD3critical for break induced telomere synthesis(Dilley et al., 2016)ALTVersion 0.0
Version 1.0
Version 2.0
POLD1catalytic subunit of polymerase delta, which is required for for break induced telomere synthesis. (Dilley et al., 2016)ALTNot included
PCNAsensing telomere damage; recruitment of polymerase delta(Dilley et al., 2016)ALTVersion 0.0
Version 1.0
Version 2.0
SUV39H2catalyses H3K9me3 heterochromatin assembly; deletion leads to ALT(Blasco, 2007)ALTVersion 0.0
Version 1.0
CHEK1Recruitment of Hop2-Mnd1 to telomeres(Dilley et al., 2016)ALTVersion 0.0
Version 1.0
Version 2.0
ERCC1Forms a heterodimer with ERCC4 and supresses recombination with interstitial telomeric sequences.(Zhu et al., 2003)ALTVersion 2.0
ERCC4Forms a heterodimer with ERCC1 and supresses recombination with interstitial telomeric sequences.(Zhu et al., 2003)ALTVersion 2.0
WRAP53TCAB1Binds to hTRs in Cajal bodies; the role in complex assemby is not clear.(Zhu et al., 2004), (Chen et al., 2018)TelomeraseVersion 0.0 Version 2.0
FXR1Binds and stabilizes hTR(Majumder et al., 2016)TelomeraseVersion 0.0
Version 1.0
PTGES3p23Assures proper hTERT conformation for nuclear import to take place(Forsythe et al., 2001), (Jeong et al., 2015)TelomeraseVersion 0.0
Version 1.0
Version 2.0
HSP90AA1Isoform of HSP90, which assures proper hTERT conformation for nuclear import to take place(Forsythe et al., 2001), (Jeong et al., 2015)TelomeraseVersion 0.0
Version 1.0
Version 2.0
HSP90AA2Isoform of HSP90, which assures proper hTERT conformation for nuclear import to take place(Forsythe et al., 2001), (Jeong et al., 2015)TelomeraseVersion 0.0
Version 1.0
Version 2.0
HSP90AB1Isoform of HSP90, which assures proper hTERT conformation for nuclear import to take place(Forsythe et al., 2001), (Jeong et al., 2015)TelomeraseVersion 0.0
Version 1.0
Version 2.0
CSTHas dual role in the pathway. Recruits telomerase to telomeres, but limits its presence to one extension cycle only, competing with POT1-TPP1 for telomere binding. Recruits polymerase alpha to complete telomere synthesis. (Chen et al., 2012)TelomeraseVersion 2.0
CTC1Member of CST complex.(Chen et al., 2012)TelomeraseVersion 2.0
STN1Member of CST complex. Stimulates the activity of DNA polymerase alpha.(Chen et al., 2012)TelomeraseVersion 2.0
TEN1Member of CST complex.(Chen et al., 2012)TelomeraseVersion 2.0
DKC1Core component of telomerase: stabilizes the complex by binding to hTR.(Schmidt and Cech, 2015)TelomeraseVersion 2.0
RUVBL1PontinParticipates in telomerase assembly, by affecting hTR levels through its interaction with dyskerin(Cohen et al., 2007), (Penzo et al., 2015); (Schmidt and Cech, 2015)TelomeraseVersion 0.0
Version 1.0
Version 2.0
RUVBL2ReptinParticipates in telomerase assembly, by affecting hTR levels through its interaction with dyskerin(Cohen et al., 2007), (Penzo et al., 2015); (Schmidt and Cech, 2015)TelomeraseVersion 0.0
Version 1.0
Version 2.0
RNASEH1Regulates the amount of RNA-DNA hybrids in ALT cells(Cohen et al., 2007) (Penzo et al., 2015); (Arora et al., 2014)ALTTo be tested
HDAC1Part of NuRD complex, may open up the chromatin for HR (Conomos et al., 2014)ALTNot included - to be tested again
HDAC2Part of NuRD complex, may open up the chromatin for HR (Conomos et al., 2014)ALTNot included - to be tested again
SMARCAL1HARPStabilizes DNA by promotes branch migration and fork regression at stalled replication
forks. Is enriched at ALT telomeres.
(BŽtous et a;. 2012), (Cox et al., 2016)
ALTTo be tested