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TEP1 (telomerase associated protein 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7011
Gene nameGene Name - the full gene name approved by the HGNC.
Telomerase associated protein 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TEP1
SynonymsGene synonyms aliases
TLP1, TP1, TROVE1, VAULT2, p240
ChromosomeChromosome number
14
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q11.2
SummarySummary of gene provided in NCBI Entrez Gene.
This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternati
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT051249 hsa-miR-16-5p CLASH 23622248
MIRT042181 hsa-miR-484 CLASH 23622248
MIRT649669 hsa-miR-6812-3p HITS-CLIP 23824327
MIRT649668 hsa-miR-6741-3p HITS-CLIP 23824327
MIRT649667 hsa-miR-1307-3p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000722 Process Telomere maintenance via recombination IBA 21873635
GO:0000722 Process Telomere maintenance via recombination IDA 10810353
GO:0000781 Component Chromosome, telomeric region IEA
GO:0002039 Function P53 binding IPI 10597287
GO:0003720 Function Telomerase activity IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q99973
Protein name Telomerase protein component 1 (Telomerase-associated protein 1) (Telomerase protein 1) (p240) (p80 telomerase homolog)
Protein function Component of the telomerase ribonucleoprotein complex that is essential for the replication of chromosome termini (PubMed:19179534). Also a component of the ribonucleoprotein vaults particle, a multi-subunit structure involved in nucleo-cytoplas
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05386 TEP1_N
1 29
TEP1 N-terminal domain
Domain
PF05386 TEP1_N
31 59
TEP1 N-terminal domain
Domain
PF05386 TEP1_N
61 89
TEP1 N-terminal domain
Domain
PF05386 TEP1_N
91 119
TEP1 N-terminal domain
Domain
PF05731 TROVE
226 676
TROVE domain
Domain
PF13271 DUF4062
900 1011
Domain of unknown function (DUF4062)
Family
PF05729 NACHT
1162 1337
NACHT domain
Domain
PF00400 WD40
1791 1828
WD domain, G-beta repeat
Repeat
PF00400 WD40
2051 2089
WD domain, G-beta repeat
Repeat
PF00400 WD40
2097 2134
WD domain, G-beta repeat
Repeat
PF00400 WD40
2138 2174
WD domain, G-beta repeat
Repeat
PF00400 WD40
2228 2266
WD domain, G-beta repeat
Repeat
Sequence
MEKLHGHVSAHPDILSLENRCLAMLPDLQPLEKLHQHVSTHSDILSLKNQCLATLPDLKT
MEKPHGYVSAHPDILSLENQCLATLSDLKTMEKPHGHVSAHPDILSLENRCLATLSSLKS
TVSASPLFQSLQISHMTQADLYRVNNSNCLLSEPPSWRAQHFSKGLDLSTCPIALKSISA
TETAQEATLGRWFDSEEKKGAETQMPSYSLSLGEEEEVEDLAVKLTSGDSESHPEPTDHV
LQEKKMALLSLLCSTLVSEVNMNNTSDPTLAAIFEICRELALLEPEFILKASLYARQQLN
VRNVANNILAIAAFLPACRPHLRRYFCAIVQLPSDWIQVAELYQSLAEGDKNKLVPLPAC
LRTAMTDKFAQFDEYQLAKYNPRKHRAKRHPRRPPRSPGMEPPFSHRCFPRYIGFLREEQ
RKFEKAGDTVSEKKNPPRFTLKKLVQRLHIHKPAQHVQALLGYRYPSNLQLFSRSRLPGP
WDSSRAGKRMKLSRPETWERELSLRGNKASVWEELIENGKLPFMAMLRNLCNLLRVGISS
RHHELILQRLQHAKSVIHSRQFPFRFLNAHDAIDALEAQLRNQALPFPSNITLMRRILTR
NEKNRPRRRFLCHLSRQQLRMAMRIPVLYEQLKREKLRVHKARQWKYDGEMLNRYRQALE
TAVNLSVKHSLPLLPG
RTVLVYLTDANADRLCPKSNPQGPPLNYALLLIGMMITRAEQVD
VVLCGGDTLKTAVLKAEEGILKTAIKLQAQVQEFDENDGWSLNTFGKYLLSLAGQRVPVD
RVILLGQSMDDGMINVAKQLYWQRVNSKCLFVGILLRRVQYLSTDLNPNDVTLSGCTDAI
LKFIAEHGASHLLEHVGQMDKIFKIPPPPGKTGVQSLRPLEEDTPSPLAPVSQQGWRSIR
LFISSTFRDMHGERDLLLRSVLPALQARAAPHRISLHGIDLRWGVTEEETRRNRQLEVCL
GEVENAQLFVGILGSRYGYIPPSYNLPDHPHFHWAQQYPSGRSVTEMEVMQ
FLNRNQRLQ
PSAQALIYFRDSSFLSSVPDAWKSDFVSESEEAARRISELKSYLSRQKGITCRRYPCEWG
GVAAGRPYVGGLEEFGQLVLQDVWNMIQKLYLQPGALLEQPVSIPDDDLVQATFQQLQKP
PSPARPRLLQDTVQRLMLPHGRLSLVTGQSGQGKTAFLASLVSALQAPDGAKVASLVFFH
FSGARPDQGLALTLLRRLCTYLRGQLKEPGALPSTYRSLVWELQQRLLPKSAESLHPGQT
QVLIIDGADRLVDQNGQLISDWIPKKLPRCVHLVLSVSSDAGLGETLEQSQGAHVLALGP
LEASARARLVREELALY
GKRLEESPFNNQMRLLLVKRESGRPLYLRLVTDHLRLFTLYEQ
VSERLRTLPATVPLLLQHILSTLEKEHGPDVLPQALTALEVTRSGLTVDQLHGVLSVWRT
LPKGTKSWEEAVAAGNSGDPYPMGPFACLVQSLRSLLGEGPLERPGARLCLPDGPLRTAA
KRCYGKRPGLEDTAHILIAAQLWKTCDADASGTFRSCPPEALGDLPYHLLQSGNRGLLSK
FLTNLHVVAAHLELGLVSRLLEAHALYASSVPKEEQKLPEADVAVFRTFLRQQASILSQY
PRLLPQQAANQPLDSPLCHQASLLSRRWHLQHTLRWLNKPRTMKNQQSSSLSLAVSSSPT
AVAFSTNGQRAAVGTANGTVYLLDLRTWQEEKSVVSGCDGISACLFLSDDTLFLTAFDGL
LELWDLQHGCRVLQTKAHQYQITGCCLSPDCRLLATVCLGGCLKLWDTVRGQLAFQHTYP
KSLNCVAFHPEGQVIATGSWAGSISFFQ
VDGLKVTKDLGAPGASIRTLAFNVPGGVVAVG
RLDSMVELWAWREGARLAAFPAHHGFVAAALFLHAGCQLLTAGEDGKVQVWSGSLGRPRG
HLGSLSLSPALSVALSPDGDRVAVGYRADGIRIYKISSGSQGAQGQALDVAVSALAWLSP
KVLVSGAEDGSLQGWALKECSLQSLWLLSRFQKPVLGLATSQELLASASEDFTVQLWPRQ
LLTRPHKAEDFPCGTELRGHEGPVSCCSFSTDGGSLATGGRDRSLLCWDVRTPKTPVLIH
SFPACHRDWVTGCAWTKDNLLISCSSDGSVGLWD
PESGQRLGQFLGHQSAVSAVAAVEEH
VVSVSRDGTLKVWD
HQGVELTSIPAHSGPISHCAAAMEPRAAGQPGSELLVVTVGLDGAT
RLWHPLLVCQTHTLLGHSGPVRAAAVSETSGLMLTASEDGSVRLWQVPKEADDTCIPRSS
AAVTAVAWAPDGSMAVSGNQAGELILWQEAKAVATAQAPGHIGALIWSSAHTFFVLSADE
KISEWQVKLRKGSAPGNLSLHLNRILQEDLGVLTSLDWAPDGHFLILAKADLKLLCMKPG
DAPSEIWSSYTENPMILSTHKEYGIFVLQPKDPGVLSFLRQKESGEFEERLNFDINLENP
SRTLISITQAKPESESSFLCASSDGILWNLAKCSPEGEWTTGNMWQKKANTPETQTPGTD
PSTCRESDASMDSDASMDSEPTPHLKTRQRRKIHSGSVTALHVLPELLVTASKDRDVKLW
ERPSMQLLGLFRCEGSVSCLEPWLGANSTLQLAVGDVQGNVYFLNWE
Sequence length 2627
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Lung cancer Malignant neoplasm of lung rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 11323394
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 28924203
Unknown
Disease name Disease term dbSNP ID References
Lung neoplasms Lung Neoplasms 11323394

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