CHAIN 1 1132 Telomerase reverse transcriptase.
/FTId=PRO_0000054925.
DOMAIN 605 935 Reverse transcriptase.
REGION 1 230 RNA-interacting domain 1.
REGION 58 197 GQ motif.
REGION 137 141 Required for regulating specificity for
telomeric DNA and for processivity for
primer elongation.
REGION 231 324 Linker.
REGION 301 538 Required for oligomerization.
REGION 325 550 RNA-interacting domain 2.
REGION 376 521 QFP motif.
REGION 397 417 CP motif.
REGION 914 928 Required for oligomerization.
REGION 930 934 Primer grip sequence.
REGION 936 1132 CTE.
METAL 712 712 Magnesium; catalytic (By similarity).
METAL 868 868 Magnesium; catalytic (By similarity).
METAL 869 869 Magnesium; catalytic (By similarity).
SITE 169 169 Required for optimal binding of telomeric
ssDNA and incorporation of nucleotides at
the second position of the template.
SITE 867 867 Required for nucleotide incorporation and
primer extension rate.
MOD_RES 707 707 Phosphotyrosine; by SRC-type Tyr-kinases.
MOD_RES 1113 1113 Phosphothreonine.
MOD_RES 1125 1125 Phosphoserine.
VAR_SEQ 764 807 STLTDLQPYMRQFVAHLQETSPLRDAVVIEQSSSLNEASSG
LFD -> LRPVPGDPAGLHPLHAALQPVLRRHGEQAVCGDS
AGRAAPAFGG (in isoform 2).
/FTId=VSP_019587.
VAR_SEQ 808 1132 Missing (in isoform 2).
/FTId=VSP_019588.
VAR_SEQ 885 947 Missing (in isoform 3).
/FTId=VSP_021727.
VARIANT 55 55 L -> Q (in idiopathic pulmonary fibrosis
susceptibility; impaired telomerase
activity).
/FTId=VAR_062535.
VARIANT 65 65 P -> A (associated with acute myeloid
leukemia).
/FTId=VAR_062780.
VARIANT 202 202 A -> T (in AA; severe and moderate;
shorter telomeres).
/FTId=VAR_036863.
VARIANT 279 279 A -> T.
/FTId=VAR_036864.
VARIANT 299 299 V -> M (associated with acute myeloid
leukemia).
/FTId=VAR_062781.
VARIANT 412 412 H -> Y (in AA susceptibility; severe and
moderate; associated with susceptibility
to acute myelogenous leukemia;
dbSNP:rs34094720).
/FTId=VAR_025149.
VARIANT 441 441 Missing (in AA susceptibility; associated
with susceptibility to acute myeloid
leukemia).
/FTId=VAR_036865.
VARIANT 522 522 R -> K (associated with acute myeloid
leukemia).
/FTId=VAR_062782.
VARIANT 570 570 K -> N (in AA susceptibility; abolishes
telomerase catalytic activity but no
effect on binding to TERC).
/FTId=VAR_062536.
VARIANT 631 631 R -> Q (in AA susceptibility).
/FTId=VAR_062783.
VARIANT 682 682 G -> D (in AA susceptibility; non-severe;
abolishes telomerase catalytic activity
but little effect on binding to TERC).
/FTId=VAR_062537.
VARIANT 694 694 V -> M (in AA susceptibility; moderate).
/FTId=VAR_036866.
VARIANT 721 721 P -> R (in DKCB4; no effect on telomerase
catalytic activity and little effect on
binding to TERC).
/FTId=VAR_062538.
VARIANT 726 726 T -> M (in AA susceptibility; very
severe; no effect on telomerase catalytic
activity but shortened telomeres).
/FTId=VAR_062539.
VARIANT 772 772 Y -> C (in AA susceptibility; moderate).
/FTId=VAR_036867.
VARIANT 785 785 P -> L (in AA susceptibility).
/FTId=VAR_062784.
VARIANT 811 811 R -> C (in DKCB4; 50% reduction in
telomerase activity).
/FTId=VAR_062540.
VARIANT 865 865 R -> H (in idiopathic pulmonary fibrosis
susceptibility).
/FTId=VAR_036868.
VARIANT 901 901 R -> W (in DKCB4; severe phenotype
overlapping with Hoyeraal-Hreidarsson
syndrome; very short telomeres and
greatly reduced telomerase activity).
/FTId=VAR_062541.
VARIANT 902 902 K -> N (in DKCA2; abolishes telomerase
catalytic activity but no effect on
binding to TERC).
/FTId=VAR_036869.
VARIANT 948 948 S -> R (in dbSNP:rs34062885).
/FTId=VAR_053726.
VARIANT 979 979 R -> W (in DKCA2; shortened telomeres but
no effect on telomerase catalytic
activity nor on binding to TERC).
/FTId=VAR_062542.
VARIANT 1062 1062 A -> T (increased incidence in sporadic
acute myeloid leukemia;
dbSNP:rs35719940).
/FTId=VAR_025150.
VARIANT 1090 1090 V -> M (in AA susceptibility; severe).
/FTId=VAR_036870.
VARIANT 1110 1110 T -> M (in idiopathic pulmonary fibrosis
susceptibility; impaired telomerase
activity).
/FTId=VAR_062543.
VARIANT 1127 1127 F -> L (in DKCA2; severe; shortened
telomeres but no effect on telomerase
catalytic activity nor on binding to
TERC).
/FTId=VAR_062544.
MUTAGEN 137 141 WGLLL->AAAAA: Reduced catalytic activity
and repeat addition processivity.
Complete loss of catalytic activity but
no loss of binding to telomeric primers;
when associated with 930-A--A-934.
MUTAGEN 169 169 Q->A: About 80% loss of enzymatic
activity. Greatly reduced incorporation
of second nucleotide. Altered strength of
binding to ssDNA. Little effect on repeat
addition processivity, nor on TR
interaction nor on protein levels.
MUTAGEN 169 169 Q->N: About 85% loss of enzymatic
activity. Greatly reduced incorporation
of second nucleotide. Altered strength of
binding to ssDNA. No effect on protein
levels nor on TR interaction.
MUTAGEN 169 169 Q->T: About 90% loss of enzymatic
activity. Greatly reduced incorporation
of second nucleotide. Altered strength of
binding to ssDNA. No effect on protein
levels nor on TR interaction.
MUTAGEN 547 547 W->A: Defective in high-affinity TERC
interactions.
MUTAGEN 631 631 R->A: Abolishes telomerase catalytic
activity.
MUTAGEN 707 707 Y->F: Abolishes oxidative stress-induced
phosphorylation and RAN binding. Impaired
nuclear export and enhanced antiapoptotic
activity against ROS-dependent apoptosis
induction. Impaired interaction with
PTPN11. No dephosphorylation by PTPN11.
MUTAGEN 712 712 D->A: Loss of telomerase activity. In the
absence of TR, no loss of binding to
telomeric primers.
MUTAGEN 866 866 L->Y: Moderate reduction in telomerase
activity, no change in repeat extension
rate nor on nucleotide incorporation
fidelity. Little further reduction in
activity but 13.5-fold increase in
nucleotide incorporation fidelity; when
associated with M-867.
MUTAGEN 867 867 V->A: About 75% reduction in telomerase
activity, about 80% reduction in repeat
reduction rate and 3.9-fold increase in
nucleotide incorporation fidelity.
MUTAGEN 867 867 V->M: About 75% reduction in telomerase
activity, about 50% reduction in repeat
extension rate and 5.2-fold increase in
nucleotide incorporation fidelity. Little
further reduction in activity and 13.5-
fold increase in nucleotide incorporation
fidelity; when associated with Y-866.
MUTAGEN 867 867 V->T: Severe reduction in telomerase
activity, about 50% reduction in repeat
extension rate and 2.2-fold increase in
nucleotide incorporation fidelity. No
further reduction in activity but 2.8-
fold increase in nucleotide incorporation
fidelity; when associated with Y-866.
MUTAGEN 868 869 DD->AA: Loss of telomerase activity.
MUTAGEN 868 868 D->A: Loss of telomerase activity.
MUTAGEN 869 869 D->A: Loss of telomerase activity.
MUTAGEN 930 934 WCGLL->AAAAA: Completely abolishes
telomerase-mediated primer extension and
reduced binding to short telomeric
primers. Complete loss of catalytic
activity but no further loss of binding
to telomeric primers; when associated
with 137-A--A-141.
CONFLICT 516 516 D -> G (in Ref. 1; AAC51724).
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