No CSI details found for gene ID: 7015
Other Information
This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.
Genular Protein ID: 3523617268
Symbol: TERT_HUMAN
Name: Telomerase reverse transcriptase
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9288757
Title: hEST2, the putative human telomerase catalytic subunit gene, is up-regulated in tumor cells and during immortalization.
PubMed ID: 9288757
PubMed ID: 9252327
Title: Telomerase catalytic subunit homologs from fission yeast and human.
PubMed ID: 9252327
PubMed ID: 10333526
Title: Genomic organization and promoter characterization of the gene encoding the human telomerase reverse transcriptase (hTERT).
PubMed ID: 10333526
PubMed ID: 12869302
Title: Expression profile of a gamma-deletion variant of the human telomerase reverse transcriptase gene.
PubMed ID: 12869302
PubMed ID: 14654914
Title: Differential alternative splicing expressions of telomerase reverse transcriptase in gastrointestinal cell lines.
PubMed ID: 14654914
PubMed ID: 15372022
Title: The DNA sequence and comparative analysis of human chromosome 5.
PubMed ID: 15372022
DOI: 10.1038/nature02919
PubMed ID: 8676067
Title: Regulated expression of telomerase activity in human T lymphocyte development and activation.
PubMed ID: 8676067
PubMed ID: 9389643
Title: Human telomerase contains evolutionarily conserved catalytic and structural subunits.
PubMed ID: 9389643
PubMed ID: 9443919
Title: Reconstitution of human telomerase activity in vitro.
PubMed ID: 9443919
PubMed ID: 11029039
Title: Polymerization defects within human telomerase are distinct from telomerase RNA and TEP1 binding.
PubMed ID: 11029039
PubMed ID: 11274138
Title: Stable association of hsp90 and p23, but Not hsp70, with active human telomerase.
PubMed ID: 11274138
PubMed ID: 12808100
Title: Hydrogen peroxide triggers nuclear export of telomerase reverse transcriptase via Src kinase family-dependent phosphorylation of tyrosine 707.
PubMed ID: 12808100
PubMed ID: 15044100
Title: Human MCRS2, a cell-cycle-dependent protein, associates with LPTS/PinX1 and reduces the telomere length.
PubMed ID: 15044100
PubMed ID: 14963003
Title: Antioxidants inhibit nuclear export of telomerase reverse transcriptase and delay replicative senescence of endothelial cells.
PubMed ID: 14963003
PubMed ID: 15138842
Title: Immunohistochemical localization of hTERT protein in human tissues.
PubMed ID: 15138842
PubMed ID: 15371412
PubMed ID: 15082768
Title: Functional organization of repeat addition processivity and DNA synthesis determinants in the human telomerase multimer.
PubMed ID: 15082768
PubMed ID: 15805468
Title: Ubiquitin ligase MKRN1 modulates telomere length homeostasis through a proteolysis of hTERT.
PubMed ID: 15805468
DOI: 10.1101/gad.1289405
PubMed ID: 15857955
Title: An anchor site-type defect in human telomerase that disrupts telomere length maintenance and cellular immortalization.
PubMed ID: 15857955
PubMed ID: 17026956
Title: Telomerase with mutated catalytic motifs has dominant negative effects on telomerase activity and inhibits cell growth.
PubMed ID: 17026956
PubMed ID: 17548608
Title: The loss of telomerase activity in highly differentiated CD8+CD28-CD27- T cells is associated with decreased Akt (Ser473) phosphorylation.
PubMed ID: 17548608
PubMed ID: 18082603
Title: Purification of human telomerase complexes identifies factors involved in telomerase biogenesis and telomere length regulation.
PubMed ID: 18082603
PubMed ID: 17296728
Title: Characterization of physical and functional anchor site interactions in human telomerase.
PubMed ID: 17296728
DOI: 10.1128/mcb.02368-06
PubMed ID: 17264120
Title: The active site residue Valine 867 in human telomerase reverse transcriptase influences nucleotide incorporation and fidelity.
PubMed ID: 17264120
DOI: 10.1093/nar/gkm002
PubMed ID: 18829466
Title: Nuclear protein tyrosine phosphatase Shp-2 is one important negative regulator of nuclear export of telomerase reverse transcriptase.
PubMed ID: 18829466
PubMed ID: 19188162
Title: Ionizing radiation up-regulates telomerase activity in cancer cell lines by post-translational mechanism via ras/phosphatidylinositol 3-kinase/Akt pathway.
PubMed ID: 19188162
PubMed ID: 19567472
Title: PML-IV functions as a negative regulator of telomerase by interacting with TERT.
PubMed ID: 19567472
DOI: 10.1242/jcs.048066
PubMed ID: 19571879
Title: Telomerase modulates Wnt signalling by association with target gene chromatin.
PubMed ID: 19571879
DOI: 10.1038/nature08137
PubMed ID: 19777057
Title: Human telomerase reverse transcriptase (hTERT) Q169 is essential for telomerase function in vitro and in vivo.
PubMed ID: 19777057
PubMed ID: 19179534
Title: A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis.
PubMed ID: 19179534
PubMed ID: 20351177
Title: Specificity and stoichiometry of subunit interactions in the human telomerase holoenzyme assembled in vivo.
PubMed ID: 20351177
DOI: 10.1128/mcb.00151-10
PubMed ID: 21846770
Title: The DEAH-box RNA helicase RHAU binds an intramolecular RNA G-quadruplex in TERC and associates with telomerase holoenzyme.
PubMed ID: 21846770
DOI: 10.1093/nar/gkr630
PubMed ID: 22226966
Title: The AAA-ATPase NVL2 is a telomerase component essential for holoenzyme assembly.
PubMed ID: 22226966
PubMed ID: 22366458
Title: Nuclear import of hTERT requires a bipartite nuclear localization signal and Akt-mediated phosphorylation.
PubMed ID: 22366458
DOI: 10.1242/jcs.099267
PubMed ID: 23362280
Title: Dyrk2-associated EDD-DDB1-VprBP E3 ligase inhibits telomerase by TERT degradation.
PubMed ID: 23362280
PubMed ID: 23612978
Title: HIV-1 Vpr protein inhibits telomerase activity via the EDD-DDB1-VPRBP E3 ligase complex.
PubMed ID: 23612978
PubMed ID: 23348503
Title: TERT promoter mutations in familial and sporadic melanoma.
PubMed ID: 23348503
PubMed ID: 29490055
Title: ATF7 mediates TNF-alpha-induced telomere shortening.
PubMed ID: 29490055
DOI: 10.1093/nar/gky155
PubMed ID: 16323248
Title: Crystal structure of HLA-A*2402 complexed with a telomerase peptide.
PubMed ID: 16323248
PubMed ID: 29695869
Title: Cryo-EM structure of substrate-bound human telomerase holoenzyme.
PubMed ID: 29695869
PubMed ID: 15885610
Title: Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.
PubMed ID: 15885610
PubMed ID: 15814878
Title: Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.
PubMed ID: 15814878
DOI: 10.1056/nejmoa042980
PubMed ID: 16247010
Title: Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.
PubMed ID: 16247010
PubMed ID: 16890917
Title: Coronary artery disease and a functional polymorphism of hTERT.
PubMed ID: 16890917
PubMed ID: 16332973
Title: Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.
PubMed ID: 16332973
PubMed ID: 16627250
Title: Mutations in telomerase catalytic protein in Japanese children with aplastic anemia.
PubMed ID: 16627250
PubMed ID: 16990594
Title: Functional characterization of natural telomerase mutations found in patients with hematologic disorders.
PubMed ID: 16990594
PubMed ID: 17785587
Title: Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
PubMed ID: 17785587
PubMed ID: 17392301
Title: Telomerase mutations in families with idiopathic pulmonary fibrosis.
PubMed ID: 17392301
DOI: 10.1056/nejmoa066157
PubMed ID: 17460043
Title: Adult-onset pulmonary fibrosis caused by mutations in telomerase.
PubMed ID: 17460043
PubMed ID: 18042801
Title: Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene.
PubMed ID: 18042801
PubMed ID: 19760749
Title: Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.
PubMed ID: 19760749
DOI: 10.1002/humu.21115
PubMed ID: 19147845
Title: Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia.
PubMed ID: 19147845
PubMed ID: 21436073
Title: Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase.
PubMed ID: 21436073
PubMed ID: 21602826
Title: Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.
PubMed ID: 21602826
DOI: 10.1038/nature10084
PubMed ID: 21483807
Title: Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.
PubMed ID: 21483807
PubMed ID: 22512499
Title: Pulmonary fibrosis, bone marrow failure, and telomerase mutation.
PubMed ID: 22512499
DOI: 10.1056/nejmc1200999
PubMed ID: 31355908
Title: FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects.
PubMed ID: 31355908
DOI: 10.1111/cge.13614
Sequence Information:
- Length: 1132
- Mass: 126997
- Checksum: 94E35469C4CA33A0
- Sequence:
MPRAPRCRAV RSLLRSHYRE VLPLATFVRR LGPQGWRLVQ RGDPAAFRAL VAQCLVCVPW DARPPPAAPS FRQVSCLKEL VARVLQRLCE RGAKNVLAFG FALLDGARGG PPEAFTTSVR SYLPNTVTDA LRGSGAWGLL LRRVGDDVLV HLLARCALFV LVAPSCAYQV CGPPLYQLGA ATQARPPPHA SGPRRRLGCE RAWNHSVREA GVPLGLPAPG ARRRGGSASR SLPLPKRPRR GAAPEPERTP VGQGSWAHPG RTRGPSDRGF CVVSPARPAE EATSLEGALS GTRHSHPSVG RQHHAGPPST SRPPRPWDTP CPPVYAETKH FLYSSGDKEQ LRPSFLLSSL RPSLTGARRL VETIFLGSRP WMPGTPRRLP RLPQRYWQMR PLFLELLGNH AQCPYGVLLK THCPLRAAVT PAAGVCAREK PQGSVAAPEE EDTDPRRLVQ LLRQHSSPWQ VYGFVRACLR RLVPPGLWGS RHNERRFLRN TKKFISLGKH AKLSLQELTW KMSVRDCAWL RRSPGVGCVP AAEHRLREEI LAKFLHWLMS VYVVELLRSF FYVTETTFQK NRLFFYRKSV WSKLQSIGIR QHLKRVQLRE LSEAEVRQHR EARPALLTSR LRFIPKPDGL RPIVNMDYVV GARTFRREKR AERLTSRVKA LFSVLNYERA RRPGLLGASV LGLDDIHRAW RTFVLRVRAQ DPPPELYFVK VDVTGAYDTI PQDRLTEVIA SIIKPQNTYC VRRYAVVQKA AHGHVRKAFK SHVSTLTDLQ PYMRQFVAHL QETSPLRDAV VIEQSSSLNE ASSGLFDVFL RFMCHHAVRI RGKSYVQCQG IPQGSILSTL LCSLCYGDME NKLFAGIRRD GLLLRLVDDF LLVTPHLTHA KTFLRTLVRG VPEYGCVVNL RKTVVNFPVE DEALGGTAFV QMPAHGLFPW CGLLLDTRTL EVQSDYSSYA RTSIRASLTF NRGFKAGRNM RRKLFGVLRL KCHSLFLDLQ VNSLQTVCTN IYKILLLQAY RFHACVLQLP FHQQVWKNPT FFLRVISDTA SLCYSILKAK NAGMSLGAKG AAGPLPSEAV QWLCHQAFLL KLTRHRVTYV PLLGSLRTAQ TQLSRKLPGT TLTALEAAAN PALPSDFKTI LD
Details Unavailable
Detailed CSI data for this gene is not available. You will be redirected to a page with all available raw data in 3 seconds.
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{
"geneID": 7015,
"tax": {
"id": 9606,
"name": [
{
"name": "Homo sapiens Linnaeus 1758"
},
{
"name": "Homo sapiens",
"type": 0
},
{
"name": "human",
"type": 4
}
]
},
"accession": {
"gene": [
"AB016767.1"
]
},
"genePos": {
"start": 5001,
"end": 46881
},
"orientation": true,
"symbol": "TERT",
"created": {
"$date": {
"$numberLong": "1738333349210"
}
},
"crossReference": {
"enseGeneID": "ENSG00000164362",
"enseRnaID": [
"ENST00000334602.10"
],
"enseProtID": [
"ENSP00000334346.6"
]
},
"chrom": {
"pos": "5",
"type": 1,
"loc": "5p15.33"
},
"desc": "telomerase reverse transcriptase",
"geneType": 5,
"mim": [
{
"id": 187270,
"relation": 0
}
],
"ontology": [
{
"id": "R-HSA-1266738",
"term": "Developmental Biology",
"cat": 10
},
{
"id": "R-HSA-162582",
"term": "Signal Transduction",
"cat": 10
},
{
"id": "R-HSA-1640170",
"term": "Cell Cycle",
"cat": 10
},
{
"id": "R-HSA-195721",
"term": "Signaling by WNT",
"cat": 11
},
{
"id": "R-HSA-73886",
"term": "Chromosome Maintenance",
"cat": 11
},
{
"id": "R-HSA-9730414",
"term": "MITF-M-regulated melanocyte development",
"cat": 11
},
{
"id": "R-HSA-157579",
"term": "Telomere Maintenance",
"cat": 12
},
{
"id": "R-HSA-201681",
"term": "TCF dependent signaling in response to WNT",
"cat": 12
},
{
"id": "R-HSA-9856651",
"term": "MITF-M-dependent gene expression",
"cat": 12
},
{
"id": "R-HSA-180786",
"term": "Extension of Telomeres",
"cat": 13
},
{
"id": "R-HSA-201722",
"term": "Formation of the beta-catenin:TCF transactivating complex",
"cat": 13
},
{
"id": "R-HSA-9825895",
"term": "Regulation of MITF-M-dependent genes involved in DNA damage repair and senescence",
"cat": 13
},
{
"id": "R-HSA-171319",
"term": "Telomere Extension By Telomerase",
"cat": 14
},
{
"id": "GO:0000049",
"term": "tRNA binding",
"pubMed": [
21937513
],
"cat": 0
},
{
"id": "GO:0001223",
"term": "transcription coactivator binding",
"pubMed": [
19571879
],
"cat": 0
},
{
"id": "GO:0003677",
"term": "DNA binding",
"pubMed": [
21937513
],
"cat": 0
},
{
"id": "GO:0003720",
"term": "telomerase activity",
"cat": 0
},
{
"id": "GO:0003720",
"term": "telomerase activity",
"pubMed": [
9398860,
9443919,
12135483,
16043710,
16507993,
17940095,
18082603,
21531765,
29695869
],
"cat": 0
},
{
"id": "GO:0003720",
"term": "telomerase activity",
"pubMed": [
11927518,
14991929,
23474713,
23784080
],
"cat": 0
},
{
"id": "GO:0003723",
"term": "RNA binding",
"pubMed": [
16507993,
17940095,
18082603,
19701182,
20351177
],
"cat": 0
},
{
"id": "GO:0003964",
"term": "RNA-directed DNA polymerase activity",
"pubMed": [
21937513
],
"cat": 0
},
{
"id": "GO:0003964",
"term": "RNA-directed DNA polymerase activity",
"pubMed": [
25569094
],
"cat": 0
},
{
"id": "GO:0003968",
"term": "RNA-dependent RNA polymerase activity",
"pubMed": [
19701182
],
"cat": 0
},
{
"id": "GO:0005515",
"term": "protein binding",
"pubMed": [
11701125,
12377759,
12699629,
15044100,
15381700,
17237767,
17940095,
18082603,
18358808,
19179534,
19487455,
19567472,
19571879,
19843693,
21119197,
21829167,
21846770,
22011238,
22226966,
24550003,
25172512,
25589350,
28255170
],
"cat": 0
},
{
"id": "GO:0042162",
"term": "telomeric DNA binding",
"cat": 0
},
{
"id": "GO:0042802",
"term": "identical protein binding",
"pubMed": [
23474713
],
"cat": 0
},
{
"id": "GO:0042803",
"term": "protein homodimerization activity",
"pubMed": [
11432839
],
"cat": 0
},
{
"id": "GO:0042803",
"term": "protein homodimerization activity",
"pubMed": [
23474713
],
"cat": 0
},
{
"id": "GO:0046872",
"term": "metal ion binding",
"cat": 0
},
{
"id": "GO:0051087",
"term": "protein-folding chaperone binding",
"pubMed": [
10197982,
19751963
],
"cat": 0
},
{
"id": "GO:0070034",
"term": "telomerase RNA binding",
"cat": 0
},
{
"id": "GO:0070034",
"term": "telomerase RNA binding",
"pubMed": [
11432839
],
"cat": 0
},
{
"id": "GO:0070034",
"term": "telomerase RNA binding",
"pubMed": [
16507993,
17940095,
18082603,
19701182,
20351177
],
"cat": 0
},
{
"id": "GO:0098680",
"term": "template-free RNA nucleotidyltransferase",
"pubMed": [
19701182
],
"cat": 0
},
{
"id": "GO:0000723",
"term": "telomere maintenance",
"pubMed": [
12135483
],
"cat": 1
},
{
"id": "GO:0001172",
"term": "RNA-templated transcription",
"pubMed": [
19701182
],
"cat": 1
},
{
"id": "GO:0006278",
"term": "RNA-templated DNA biosynthetic process",
"pubMed": [
9398860
],
"cat": 1
},
{
"id": "GO:0007004",
"term": "telomere maintenance via telomerase",
"cat": 1
},
{
"id": "GO:0007004",
"term": "telomere maintenance via telomerase",
"pubMed": [
9443919,
16043710,
17940095,
19701182,
21531765,
29695869
],
"cat": 1
},
{
"id": "GO:0007004",
"term": "telomere maintenance via telomerase",
"pubMed": [
9454332
],
"cat": 1
},
{
"id": "GO:0007004",
"term": "telomere maintenance via telomerase",
"pubMed": [
2805070,
20351177
],
"cat": 1
},
{
"id": "GO:0007005",
"term": "mitochondrion organization",
"pubMed": [
21937513
],
"cat": 1
},
{
"id": "GO:0010629",
"term": "negative regulation of gene expression",
"pubMed": [
11927518
],
"cat": 1
},
{
"id": "GO:0022616",
"term": "DNA strand elongation",
"pubMed": [
16043710
],
"cat": 1
},
{
"id": "GO:0030177",
"term": "positive regulation of Wnt signaling pathway",
"pubMed": [
19571879
],
"cat": 1
},
{
"id": "GO:0030422",
"term": "siRNA processing",
"pubMed": [
19701182
],
"cat": 1
},
{
"id": "GO:0031647",
"term": "regulation of protein stability",
"pubMed": [
24415760,
26194824
],
"cat": 1
},
{
"id": "GO:0031647",
"term": "regulation of protein stability",
"pubMed": [
26194824
],
"cat": 1
},
{
"id": "GO:0032092",
"term": "positive regulation of protein binding",
"pubMed": [
24415760
],
"cat": 1
},
{
"id": "GO:0042635",
"term": "positive regulation of hair cycle",
"cat": 1
},
{
"id": "GO:0043524",
"term": "negative regulation of neuron apoptotic process",
"cat": 1
},
{
"id": "GO:0045766",
"term": "positive regulation of angiogenesis",
"cat": 1
},
{
"id": "GO:0046326",
"term": "positive regulation of D-glucose import",
"cat": 1
},
{
"id": "GO:0046686",
"term": "response to cadmium ion",
"cat": 1
},
{
"id": "GO:0051000",
"term": "positive regulation of nitric-oxide synthase activity",
"pubMed": [
11927518
],
"cat": 1
},
{
"id": "GO:0070200",
"term": "establishment of protein localization to telomere",
"pubMed": [
25589350
],
"cat": 1
},
{
"id": "GO:0071456",
"term": "cellular response to hypoxia",
"pubMed": [
11313459
],
"cat": 1
},
{
"id": "GO:0071897",
"term": "DNA biosynthetic process",
"pubMed": [
9398860
],
"cat": 1
},
{
"id": "GO:0090399",
"term": "replicative senescence",
"pubMed": [
9454332
],
"cat": 1
},
{
"id": "GO:0140745",
"term": "siRNA transcription",
"pubMed": [
19701182
],
"cat": 1
},
{
"id": "GO:1900087",
"term": "positive regulation of G1\/S transition of mitotic cell cycle",
"cat": 1
},
{
"id": "GO:1902895",
"term": "positive regulation of miRNA transcription",
"pubMed": [
25569094
],
"cat": 1
},
{
"id": "GO:1903620",
"term": "positive regulation of transdifferentiation",
"cat": 1
},
{
"id": "GO:1904707",
"term": "positive regulation of vascular associated smooth muscle cell proliferation",
"cat": 1
},
{
"id": "GO:1904751",
"term": "positive regulation of protein localization to nucleolus",
"pubMed": [
24415760
],
"cat": 1
},
{
"id": "GO:1904754",
"term": "positive regulation of vascular associated smooth muscle cell migration",
"cat": 1
},
{
"id": "GO:2000352",
"term": "negative regulation of endothelial cell apoptotic process",
"cat": 1
},
{
"id": "GO:2000648",
"term": "positive regulation of stem cell proliferation",
"cat": 1
},
{
"id": "GO:2000773",
"term": "negative regulation of cellular senescence",
"pubMed": [
11927518
],
"cat": 1
},
{
"id": "GO:2000773",
"term": "negative regulation of cellular senescence",
"pubMed": [
11313459
],
"cat": 1
},
{
"id": "GO:2001240",
"term": "negative regulation of extrinsic apoptotic signaling pathway in absence of ligand",
"pubMed": [
10449030
],
"cat": 1
},
{
"id": "GO:0000333",
"term": "telomerase catalytic core complex",
"cat": 2
},
{
"id": "GO:0000333",
"term": "telomerase catalytic core complex",
"pubMed": [
9398860,
9443919,
16507993,
17940095,
18082603
],
"cat": 2
},
{
"id": "GO:0000333",
"term": "telomerase catalytic core complex",
"pubMed": [
11313459
],
"cat": 2
},
{
"id": "GO:0000333",
"term": "telomerase catalytic core complex",
"pubMed": [
19701182
],
"cat": 2
},
{
"id": "GO:0000781",
"term": "chromosome, telomeric region",
"pubMed": [
12135483
],
"cat": 2
},
{
"id": "GO:0000781",
"term": "chromosome, telomeric region",
"pubMed": [
25589350
],
"cat": 2
},
{
"id": "GO:0000783",
"term": "nuclear telomere cap complex",
"pubMed": [
15632080
],
"cat": 2
},
{
"id": "GO:0005634",
"term": "nucleus",
"pubMed": [
21829167,
24415760
],
"cat": 2
},
{
"id": "GO:0005654",
"term": "nucleoplasm",
"pubMed": [
19567472
],
"cat": 2
},
{
"id": "GO:0005654",
"term": "nucleoplasm",
"cat": 2
},
{
"id": "GO:0005697",
"term": "telomerase holoenzyme complex",
"pubMed": [
12135483,
18082603,
29695869
],
"cat": 2
},
{
"id": "GO:0005697",
"term": "telomerase holoenzyme complex",
"pubMed": [
19701182
],
"cat": 2
},
{
"id": "GO:0005697",
"term": "telomerase holoenzyme complex",
"pubMed": [
20351177
],
"cat": 2
},
{
"id": "GO:0005697",
"term": "telomerase holoenzyme complex",
"pubMed": [
10757788,
22527283
],
"cat": 2
},
{
"id": "GO:0005730",
"term": "nucleolus",
"pubMed": [
22226966
],
"cat": 2
},
{
"id": "GO:0005730",
"term": "nucleolus",
"pubMed": [
26194824
],
"cat": 2
},
{
"id": "GO:0005829",
"term": "cytosol",
"cat": 2
},
{
"id": "GO:0005886",
"term": "plasma membrane",
"cat": 2
},
{
"id": "GO:0016605",
"term": "PML body",
"pubMed": [
19567472
],
"cat": 2
},
{
"id": "GO:0016607",
"term": "nuclear speck",
"cat": 2
},
{
"id": "GO:0031379",
"term": "RNA-directed RNA polymerase complex",
"pubMed": [
19701182
],
"cat": 2
},
{
"id": "GO:0042645",
"term": "mitochondrial nucleoid",
"pubMed": [
21937513
],
"cat": 2
},
{
"id": "GO:1990572",
"term": "TERT-RMRP complex",
"pubMed": [
19701182
],
"cat": 2
}
],
"protein": [
{
"symbol": "TERT_HUMAN",
"name": "Telomerase reverse transcriptase",
"accession": [
"O14746",
"O14783",
"Q2XS35",
"Q8N6C3",
"Q8NG38",
"Q8NG46"
],
"databaseIDs": {
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"9606"
],
"Rhea": [
"RHEA:22508",
"RHEA-COMP:17339",
"RHEA-COMP:17340"
],
"ChEBI": [
"CHEBI:33019",
"CHEBI:61560",
"CHEBI:173112",
"CHEBI:18420",
"CHEBI:18420",
"CHEBI:18420"
],
"EC": [
"2.7.7.49"
],
"MIM": [
"609135",
"613989",
"614742",
"613989",
"615134",
"187270",
"609135",
"613989",
"614742",
"615134"
],
"EMBL": [
"AF018167",
"AF015950",
"AF128894",
"AF128893",
"AB085628",
"AB086379",
"AB086950",
"AY007685",
"DQ264729",
"AC114291",
"CH471102"
],
"CCDS": [
"CCDS3861.2",
"CCDS54831.1"
],
"PIR": [
"T03844"
],
"RefSeq": [
"NP_001180305.1",
"NP_937983.2"
],
"PDB": [
"2BCK",
"4B18",
"4MNQ",
"5MEN",
"5MEO",
"5MEP",
"5MEQ",
"5MER",
"5UGW",
"7BG9",
"7QXA",
"7QXB",
"7QXS",
"7TRD",
"7TRE",
"7TRF",
"7V99"
],
"PDBsum": [
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"4B18",
"4MNQ",
"5MEN",
"5MEO",
"5MEP",
"5MEQ",
"5MER",
"5UGW",
"7BG9",
"7QXA",
"7QXB",
"7QXS",
"7TRD",
"7TRE",
"7TRF",
"7V99"
],
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],
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"EMD-14196",
"EMD-14197",
"EMD-14198",
"EMD-14199",
"EMD-2310",
"EMD-2311",
"EMD-2312",
"EMD-26086",
"EMD-26087",
"EMD-26088",
"EMD-31811",
"EMD-31812"
],
"SMR": [
"O14746"
],
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"112874"
],
"ComplexPortal": [
"CPX-17",
"CPX-20",
"CPX-265"
],
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],
"DIP": [
"DIP-40646N"
],
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],
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],
"MINT": [
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],
"STRING": [
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],
"BindingDB": [
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],
"ChEMBL": [
"CHEMBL2916"
],
"DrugBank": [
"DB05036",
"DB12747",
"DB00495"
],
"DrugCentral": [
"O14746"
],
"GlyGen": [
"O14746"
],
"iPTMnet": [
"O14746"
],
"PhosphoSitePlus": [
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],
"BioMuta": [
"TERT"
],
"MassIVE": [
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],
"PaxDb": [
"9606-ENSP00000309572"
],
"PeptideAtlas": [
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],
"ProteomicsDB": [
"48203",
"48204",
"48205",
"73418"
],
"ABCD": [
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"Antibodypedia": [
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],
"DNASU": [
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"ENST00000334602.10",
"ENST00000460137.6"
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"KEGG": [
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"MANE-Select": [
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],
"UCSC": [
"uc003jcb.2"
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"AGR": [
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],
"CTD": [
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],
"DisGeNET": [
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],
"GeneCards": [
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],
"GeneReviews": [
"TERT"
],
"HGNC": [
"HGNC:11730"
],
"HPA": [
"ENSG00000164362"
],
"MalaCards": [
"TERT"
],
"neXtProt": [
"NX_O14746"
],
"OpenTargets": [
"ENSG00000164362"
],
"Orphanet": [
"1501",
"457246",
"146",
"1775",
"618",
"3322",
"88",
"2032",
"2495"
],
"PharmGKB": [
"PA36447"
],
"VEuPathDB": [
"HostDB:ENSG00000164362"
],
"eggNOG": [
"KOG1005"
],
"GeneTree": [
"ENSGT00390000018531"
],
"HOGENOM": [
"CLU_001996_2_0_1"
],
"InParanoid": [
"O14746"
],
"OMA": [
"LAAMKFH"
],
"OrthoDB": [
"55913at2759"
],
"PhylomeDB": [
"O14746"
],
"TreeFam": [
"TF329048"
],
"PathwayCommons": [
"O14746"
],
"Reactome": [
"R-HSA-171319",
"R-HSA-201722",
"R-HSA-9825895"
],
"SignaLink": [
"O14746"
],
"SIGNOR": [
"O14746"
],
"BioGRID-ORCS": [
"7015"
],
"EvolutionaryTrace": [
"O14746"
],
"GeneWiki": [
"Telomerase_reverse_transcriptase"
],
"GenomeRNAi": [
"7015"
],
"Pharos": [
"O14746"
],
"PRO": [
"PR:O14746"
],
"Proteomes": [
"UP000005640"
],
"RNAct": [
"O14746"
],
"Bgee": [
"ENSG00000164362"
],
"ExpressionAtlas": [
"O14746"
],
"GO": [
"GO:0000781",
"GO:0005829",
"GO:0042645",
"GO:0016607",
"GO:0000783",
"GO:0005730",
"GO:0005654",
"GO:0005634",
"GO:0005886",
"GO:0016605",
"GO:0031379",
"GO:0000333",
"GO:0005697",
"GO:1990572",
"GO:0003677",
"GO:0042802",
"GO:0046872",
"GO:0042803",
"GO:0051087",
"GO:0003723",
"GO:0003968",
"GO:0003964",
"GO:0003720",
"GO:0070034",
"GO:0003721",
"GO:0042162",
"GO:0098680",
"GO:0001223",
"GO:0000049",
"GO:0071456",
"GO:0071897",
"GO:0022616",
"GO:0070200",
"GO:0007005",
"GO:2000773",
"GO:2000352",
"GO:2001240",
"GO:0010629",
"GO:0043524",
"GO:0045766",
"GO:1900087",
"GO:0046326",
"GO:0042635",
"GO:1902895",
"GO:0051000",
"GO:0032092",
"GO:1904751",
"GO:2000648",
"GO:1903620",
"GO:1904754",
"GO:1904707",
"GO:0030177",
"GO:0031647",
"GO:0090399",
"GO:0046686",
"GO:0006278",
"GO:0001172",
"GO:0030422",
"GO:0140745",
"GO:0000723",
"GO:0007004"
],
"CDD": [
"cd01648"
],
"Gene3D": [
"1.10.132.70",
"1.10.357.90",
"3.30.70.2630"
],
"IDEAL": [
"IID00690"
],
"InterPro": [
"IPR043502",
"IPR000477",
"IPR021891",
"IPR003545",
"IPR049139"
],
"PANTHER": [
"PTHR12066",
"PTHR12066:SF0"
],
"Pfam": [
"PF00078",
"PF12009",
"PF21399"
],
"PRINTS": [
"PR01365"
],
"SMART": [
"SM00975"
],
"SUPFAM": [
"SSF56672"
],
"PROSITE": [
"PS50878"
]
},
"citations": [
{
"title": "hEST2, the putative human telomerase catalytic subunit gene, is up-regulated in tumor cells and during immortalization.",
"pubmedID": "9288757",
"doi": "10.1016\/s0092-8674(00)80538-3"
},
{
"title": "Telomerase catalytic subunit homologs from fission yeast and human.",
"pubmedID": "9252327",
"doi": "10.1126\/science.277.5328.955"
},
{
"title": "Genomic organization and promoter characterization of the gene encoding the human telomerase reverse transcriptase (hTERT).",
"pubmedID": "10333526",
"doi": "10.1016\/s0378-1119(99)00108-0"
},
{
"title": "Expression profile of a gamma-deletion variant of the human telomerase reverse transcriptase gene.",
"pubmedID": "12869302",
"doi": "10.1016\/s1476-5586(03)80051-9"
},
{
"title": "Differential alternative splicing expressions of telomerase reverse transcriptase in gastrointestinal cell lines.",
"pubmedID": "14654914"
},
{
"title": "The DNA sequence and comparative analysis of human chromosome 5.",
"pubmedID": "15372022",
"doi": "10.1038\/nature02919"
},
{
"title": "Regulated expression of telomerase activity in human T lymphocyte development and activation.",
"pubmedID": "8676067",
"doi": "10.1084\/jem.183.6.2471"
},
{
"title": "Human telomerase contains evolutionarily conserved catalytic and structural subunits.",
"pubmedID": "9389643",
"doi": "10.1101\/gad.11.23.3109"
},
{
"title": "Reconstitution of human telomerase activity in vitro.",
"pubmedID": "9443919",
"doi": "10.1016\/s0960-9822(98)70067-3"
},
{
"title": "Polymerization defects within human telomerase are distinct from telomerase RNA and TEP1 binding.",
"pubmedID": "11029039",
"doi": "10.1091\/mbc.11.10.3329"
},
{
"title": "Stable association of hsp90 and p23, but Not hsp70, with active human telomerase.",
"pubmedID": "11274138",
"doi": "10.1074\/jbc.c100055200"
},
{
"title": "Hydrogen peroxide triggers nuclear export of telomerase reverse transcriptase via Src kinase family-dependent phosphorylation of tyrosine 707.",
"pubmedID": "12808100",
"doi": "10.1128\/mcb.23.13.4598-4610.2003"
},
{
"title": "Human MCRS2, a cell-cycle-dependent protein, associates with LPTS\/PinX1 and reduces the telomere length.",
"pubmedID": "15044100",
"doi": "10.1016\/j.bbrc.2004.02.166"
},
{
"title": "Antioxidants inhibit nuclear export of telomerase reverse transcriptase and delay replicative senescence of endothelial cells.",
"pubmedID": "14963003",
"doi": "10.1161\/01.res.0000121104.05977.f3"
},
{
"title": "Immunohistochemical localization of hTERT protein in human tissues.",
"pubmedID": "15138842",
"doi": "10.1007\/s00418-004-0645-5"
},
{
"title": "Nucleolin interacts with telomerase.",
"pubmedID": "15371412",
"doi": "10.1074\/jbc.m407643200"
},
{
"title": "Functional organization of repeat addition processivity and DNA synthesis determinants in the human telomerase multimer.",
"pubmedID": "15082768",
"doi": "10.1128\/mcb.24.9.3720-3733.2004"
},
{
"title": "Ubiquitin ligase MKRN1 modulates telomere length homeostasis through a proteolysis of hTERT.",
"pubmedID": "15805468",
"doi": "10.1101\/gad.1289405"
},
{
"title": "An anchor site-type defect in human telomerase that disrupts telomere length maintenance and cellular immortalization.",
"pubmedID": "15857955",
"doi": "10.1091\/mbc.e05-02-0148"
},
{
"title": "Telomerase with mutated catalytic motifs has dominant negative effects on telomerase activity and inhibits cell growth.",
"pubmedID": "17026956",
"doi": "10.1016\/j.bbrc.2006.09.125"
},
{
"title": "The loss of telomerase activity in highly differentiated CD8+CD28-CD27- T cells is associated with decreased Akt (Ser473) phosphorylation.",
"pubmedID": "17548608",
"doi": "10.4049\/jimmunol.178.12.7710"
},
{
"title": "Purification of human telomerase complexes identifies factors involved in telomerase biogenesis and telomere length regulation.",
"pubmedID": "18082603",
"doi": "10.1016\/j.molcel.2007.09.023"
},
{
"title": "Characterization of physical and functional anchor site interactions in human telomerase.",
"pubmedID": "17296728",
"doi": "10.1128\/mcb.02368-06"
},
{
"title": "The active site residue Valine 867 in human telomerase reverse transcriptase influences nucleotide incorporation and fidelity.",
"pubmedID": "17264120",
"doi": "10.1093\/nar\/gkm002"
},
{
"title": "Nuclear protein tyrosine phosphatase Shp-2 is one important negative regulator of nuclear export of telomerase reverse transcriptase.",
"pubmedID": "18829466",
"doi": "10.1074\/jbc.m805138200"
},
{
"title": "Ionizing radiation up-regulates telomerase activity in cancer cell lines by post-translational mechanism via ras\/phosphatidylinositol 3-kinase\/Akt pathway.",
"pubmedID": "19188162",
"doi": "10.1158\/1078-0432.ccr-08-0792"
},
{
"title": "PML-IV functions as a negative regulator of telomerase by interacting with TERT.",
"pubmedID": "19567472",
"doi": "10.1242\/jcs.048066"
},
{
"title": "Telomerase modulates Wnt signalling by association with target gene chromatin.",
"pubmedID": "19571879",
"doi": "10.1038\/nature08137"
},
{
"title": "Human telomerase reverse transcriptase (hTERT) Q169 is essential for telomerase function in vitro and in vivo.",
"pubmedID": "19777057",
"doi": "10.1371\/journal.pone.0007176"
},
{
"title": "A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis.",
"pubmedID": "19179534",
"doi": "10.1126\/science.1165357"
},
{
"title": "Specificity and stoichiometry of subunit interactions in the human telomerase holoenzyme assembled in vivo.",
"pubmedID": "20351177",
"doi": "10.1128\/mcb.00151-10"
},
{
"title": "The DEAH-box RNA helicase RHAU binds an intramolecular RNA G-quadruplex in TERC and associates with telomerase holoenzyme.",
"pubmedID": "21846770",
"doi": "10.1093\/nar\/gkr630"
},
{
"title": "The AAA-ATPase NVL2 is a telomerase component essential for holoenzyme assembly.",
"pubmedID": "22226966",
"doi": "10.1016\/j.bbrc.2011.12.101"
},
{
"title": "Nuclear import of hTERT requires a bipartite nuclear localization signal and Akt-mediated phosphorylation.",
"pubmedID": "22366458",
"doi": "10.1242\/jcs.099267"
},
{
"title": "Dyrk2-associated EDD-DDB1-VprBP E3 ligase inhibits telomerase by TERT degradation.",
"pubmedID": "23362280",
"doi": "10.1074\/jbc.m112.416792"
},
{
"title": "HIV-1 Vpr protein inhibits telomerase activity via the EDD-DDB1-VPRBP E3 ligase complex.",
"pubmedID": "23612978",
"doi": "10.1074\/jbc.m112.416735"
},
{
"title": "TERT promoter mutations in familial and sporadic melanoma.",
"pubmedID": "23348503",
"doi": "10.1126\/science.1230062"
},
{
"title": "ATF7 mediates TNF-alpha-induced telomere shortening.",
"pubmedID": "29490055",
"doi": "10.1093\/nar\/gky155"
},
{
"title": "Crystal structure of HLA-A*2402 complexed with a telomerase peptide.",
"pubmedID": "16323248",
"doi": "10.1002\/eji.200535424"
},
{
"title": "Cryo-EM structure of substrate-bound human telomerase holoenzyme.",
"pubmedID": "29695869",
"doi": "10.1038\/s41586-018-0062-x"
},
{
"title": "Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.",
"pubmedID": "15885610",
"doi": "10.1016\/j.bcmd.2004.12.008"
},
{
"title": "Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.",
"pubmedID": "15814878",
"doi": "10.1056\/nejmoa042980"
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{
"title": "Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.",
"pubmedID": "16247010",
"doi": "10.1073\/pnas.0508124102"
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{
"title": "Coronary artery disease and a functional polymorphism of hTERT.",
"pubmedID": "16890917",
"doi": "10.1016\/j.bbrc.2006.07.103"
},
{
"title": "Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.",
"pubmedID": "16332973",
"doi": "10.1182\/blood-2005-07-2622"
},
{
"title": "Mutations in telomerase catalytic protein in Japanese children with aplastic anemia.",
"pubmedID": "16627250"
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{
"title": "Functional characterization of natural telomerase mutations found in patients with hematologic disorders.",
"pubmedID": "16990594",
"doi": "10.1182\/blood-2006-07-035089"
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{
"title": "Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.",
"pubmedID": "17785587",
"doi": "10.1182\/blood-2006-12-062851"
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{
"title": "Telomerase mutations in families with idiopathic pulmonary fibrosis.",
"pubmedID": "17392301",
"doi": "10.1056\/nejmoa066157"
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{
"title": "Adult-onset pulmonary fibrosis caused by mutations in telomerase.",
"pubmedID": "17460043",
"doi": "10.1073\/pnas.0701009104"
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{
"title": "Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene.",
"pubmedID": "18042801",
"doi": "10.1182\/blood-2007-10-120907"
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{
"title": "Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.",
"pubmedID": "19760749",
"doi": "10.1002\/humu.21115"
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{
"title": "Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia.",
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"doi": "10.1073\/pnas.0807057106"
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{
"title": "Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase.",
"pubmedID": "21436073",
"doi": "10.1182\/blood-2010-11-322149"
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{
"title": "Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.",
"pubmedID": "21602826",
"doi": "10.1038\/nature10084"
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{
"title": "Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.",
"pubmedID": "21483807",
"doi": "10.1371\/journal.pgen.1001352"
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{
"title": "Pulmonary fibrosis, bone marrow failure, and telomerase mutation.",
"pubmedID": "22512499",
"doi": "10.1056\/nejmc1200999"
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{
"title": "FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects.",
"pubmedID": "31355908",
"doi": "10.1111\/cge.13614"
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"sequence": {
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"checksum": "94E35469C4CA33A0",
"modified": {
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},
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"sequence": "MPRAPRCRAVRSLLRSHYREVLPLATFVRRLGPQGWRLVQRGDPAAFRALVAQCLVCVPWDARPPPAAPSFRQVSCLKELVARVLQRLCERGAKNVLAFGFALLDGARGGPPEAFTTSVRSYLPNTVTDALRGSGAWGLLLRRVGDDVLVHLLARCALFVLVAPSCAYQVCGPPLYQLGAATQARPPPHASGPRRRLGCERAWNHSVREAGVPLGLPAPGARRRGGSASRSLPLPKRPRRGAAPEPERTPVGQGSWAHPGRTRGPSDRGFCVVSPARPAEEATSLEGALSGTRHSHPSVGRQHHAGPPSTSRPPRPWDTPCPPVYAETKHFLYSSGDKEQLRPSFLLSSLRPSLTGARRLVETIFLGSRPWMPGTPRRLPRLPQRYWQMRPLFLELLGNHAQCPYGVLLKTHCPLRAAVTPAAGVCAREKPQGSVAAPEEEDTDPRRLVQLLRQHSSPWQVYGFVRACLRRLVPPGLWGSRHNERRFLRNTKKFISLGKHAKLSLQELTWKMSVRDCAWLRRSPGVGCVPAAEHRLREEILAKFLHWLMSVYVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHLKRVQLRELSEAEVRQHREARPALLTSRLRFIPKPDGLRPIVNMDYVVGARTFRREKRAERLTSRVKALFSVLNYERARRPGLLGASVLGLDDIHRAWRTFVLRVRAQDPPPELYFVKVDVTGAYDTIPQDRLTEVIASIIKPQNTYCVRRYAVVQKAAHGHVRKAFKSHVSTLTDLQPYMRQFVAHLQETSPLRDAVVIEQSSSLNEASSGLFDVFLRFMCHHAVRIRGKSYVQCQGIPQGSILSTLLCSLCYGDMENKLFAGIRRDGLLLRLVDDFLLVTPHLTHAKTFLRTLVRGVPEYGCVVNLRKTVVNFPVEDEALGGTAFVQMPAHGLFPWCGLLLDTRTLEVQSDYSSYARTSIRASLTFNRGFKAGRNMRRKLFGVLRLKCHSLFLDLQVNSLQTVCTNIYKILLLQAYRFHACVLQLPFHQQVWKNPTFFLRVISDTASLCYSILKAKNAGMSLGAKGAAGPLPSEAVQWLCHQAFLLKLTRHRVTYVPLLGSLRTAQTQLSRKLPGTTLTALEAAANPALPSDFKTILD"
},
"existence": 0,
"relevance": 1,
"proteinID": 3523617268
}
],
"singleCellExpressions": {
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}
}