Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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7011 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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TEP1 |
SynonymsGene synonyms aliases
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TLP1, TP1, TROVE1, VAULT2, p240 |
ChromosomeChromosome number
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14 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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14q11.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Sequence |
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Sequence length |
2627 |
Interactions |
View interactions |
Associated diseases
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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 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Lung neoplasms |
Lung Neoplasms |
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11323394 |
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