Gene Gene information from NCBI Gene database.
Entrez ID 7011
Gene name Telomerase associated protein 1
Gene symbol TEP1
Synonyms (NCBI Gene)
TLP1TP1TROVE1VAULT2p240
Chromosome 14
Chromosome location 14q11.2
Summary 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.
407
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000722 Process Telomere maintenance via recombination IBA
GO:0000722 Process Telomere maintenance via recombination IDA 10810353
GO:0000781 Component Chromosome, telomeric region IEA
GO:0002039 Function P53 binding IPI 10597287
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601686 11726 ENSG00000129566
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
24
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Uncertain significance; Benign rs375172392, rs2228034 RCV005929223
RCV005910213
Cervical cancer Benign rs8011960, rs2228034 RCV005912015
RCV005910214
Cholangiocarcinoma Benign rs2228034 RCV005910220
Clear cell carcinoma of kidney Benign rs8011960, rs2228034 RCV005912016
RCV005910215
Associations from Text MiningDisease associations identified through Pubtator
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