Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7011
Gene name Gene Name - the full gene name approved by the HGNC.
Telomerase associated protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TEP1
Synonyms (NCBI Gene) Gene synonyms aliases
TLP1, TP1, TROVE1, VAULT2, p240
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q11.2
Summary Summary 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
miRNA miRNA 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601686 11726 ENSG00000129566
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
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9020079}.
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 Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Lung cancer Malignant neoplasm of lung rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 11323394
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
28924203
Unknown
Disease term Disease name Evidence References Source
Cervical Cancer Cervical Cancer Our screens identified 10 miRNAs that enhance fitness of HeLa cells and have been reported to be up-regulated in cervical cancer (Table2). GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Alternating hemiplegia of childhood Associate 28716051
Breast Neoplasms Associate 18542066, 23629941, 23677713
Carcinoma Hepatocellular Associate 10717526, 10732755, 12673720, 27221889
Cardiovascular Diseases Associate 20937264
Cerebral Infarction Associate 20937264
Diabetes Mellitus Type 2 Associate 21665207
Esophageal Squamous Cell Carcinoma Associate 14606063
Glioblastoma Associate 29328863
Glioma Associate 9356475
Hamartoma Syndrome Multiple Associate 10793080, 11986403