Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | TEP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | TEP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
2. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
3. | Two genetic variants in telomerase-associated protein 1 are associated with stomach cancer risk. | Jin DH, etal., J Hum Genet. 2016 Oct;61(10):885-889. doi: 10.1038/jhg.2016.71. Epub 2016 Jun 16. |
4. | Prognostic impact of telomere maintenance gene polymorphisms on hepatocellular carcinoma patients with chronic hepatitis B. | Jung SW, etal., Hepatology. 2014 May;59(5):1912-20. doi: 10.1002/hep.26655. Epub 2014 Mar 27. |
5. | RNA location and modeling of a WD40 repeat domain within the vault. | Kong LB, etal., RNA 2000 Jun;6(6):890-900. |
6. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
7. | TLP1: a gene encoding a protein component of mammalian telomerase is a novel member of WD repeats family. | Nakayama J, etal., Cell 1997 Mar 21;88(6):875-84. |
8. | In situ nucleic acid detection of human telomerase in intrahepatic cholangiocarcinoma and its preneoplastic lesion. | Ozaki S, etal., Hepatology. 1999 Oct;30(4):914-9. doi: 10.1002/hep.510300419. |
9. | GOA pipeline | RGD automated data pipeline |
10. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
11. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:1300486 | PMID:7876352 | PMID:9020079 | PMID:10551828 | PMID:10597287 | PMID:10810353 | PMID:11027287 | PMID:12135483 | PMID:15169895 |
Tep1 (Rattus norvegicus - Norway rat) |
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TEP1 (Homo sapiens - human) |
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Tep1 (Mus musculus - house mouse) |
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Tep1 (Chinchilla lanigera - long-tailed chinchilla) |
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TEP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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TEP1 (Canis lupus familiaris - dog) |
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Tep1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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TEP1 (Sus scrofa - pig) |
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TEP1 (Chlorocebus sabaeus - green monkey) |
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Tep1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Tep1
129 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
TEP1 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 3 | 21 | 12 | 15 | 1 | 2 | 26 | 24 | 11 | 1 | |||
Low | 22 | 45 | 41 | 4 | 41 | 7 | 9 | 74 | 9 | 17 | 7 | ||
Below cutoff |
RefSeq Acc Id: | ENSRNOT00000079506 ⟹ ENSRNOP00000073225 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000088981 ⟹ ENSRNOP00000068552 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000100610 ⟹ ENSRNOP00000078028 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000105915 ⟹ ENSRNOP00000077288 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_022591 ⟹ NP_072113 | ||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039093640 ⟹ XP_038949568 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039093641 ⟹ XP_038949569 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039093642 ⟹ XP_038949570 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NP_072113 ⟸ NM_022591 |
- UniProtKB: | O08653 (UniProtKB/Swiss-Prot), A6KEB2 (UniProtKB/TrEMBL), F1LPX8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000073225 ⟸ ENSRNOT00000079506 |
RefSeq Acc Id: | ENSRNOP00000068552 ⟸ ENSRNOT00000088981 |
RefSeq Acc Id: | XP_038949568 ⟸ XM_039093640 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038949570 ⟸ XM_039093642 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038949569 ⟸ XM_039093641 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A6KEB3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSRNOP00000078028 ⟸ ENSRNOT00000100610 |
RefSeq Acc Id: | ENSRNOP00000077288 ⟸ ENSRNOT00000105915 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O08653-F1-model_v2 | AlphaFold | O08653 | 1-2629 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13699623 | ||||||||
Promoter ID: | EPDNEW_R10145 | ||||||||
Type: | initiation region | ||||||||
Name: | Tep1_1 | ||||||||
Description: | telomerase associated protein 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | RGD:3869 | AgrOrtholog |
BioCyc Gene | G2FUF-14056 | BioCyc |
Ensembl Genes | ENSRNOG00000051706 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000079506 | ENTREZGENE |
ENSRNOT00000079506.2 | UniProtKB/TrEMBL | |
ENSRNOT00000088981.2 | UniProtKB/TrEMBL | |
ENSRNOT00000100610.1 | UniProtKB/TrEMBL | |
ENSRNOT00000105915.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.25.40.370 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
2.130.10.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
3.40.50.300 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | APAF1_C | UniProtKB/TrEMBL |
DUF4062 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
DUF5920 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NACHT_NTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
P-loop_NTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Quinonprotein_ADH-like_supfam | UniProtKB/TrEMBL | |
TEP1_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TROVE_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TROVE_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
WD40/YVTN_repeat-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
WD40_repeat | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
WD40_repeat_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:64523 | UniProtKB/Swiss-Prot |
NCBI Gene | Tep1 | ENTREZGENE |
PANTHER | TELOMERASE PROTEIN COMPONENT 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TELOMERASE PROTEIN COMPONENT 1 TEP1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | APAF1_C | UniProtKB/TrEMBL |
DUF4062 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
DUF5920 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NACHT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TEP1_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TROVE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
WD40 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Tep1 | PhenoGen |
PROSITE | NACHT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TEP1_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TROVE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
WD_REPEATS_1 | UniProtKB/Swiss-Prot | |
WD_REPEATS_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
WD_REPEATS_REGION | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RatGTEx | ENSRNOG00000051706 | RatGTEx |
SMART | WD40 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF140864 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF50978 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF50998 | UniProtKB/TrEMBL | |
SSF52540 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A0G2JT33_RAT | UniProtKB/TrEMBL |
A0A8I5Y645_RAT | UniProtKB/TrEMBL | |
A0A8I5ZJN1_RAT | UniProtKB/TrEMBL | |
A6KEB2 | ENTREZGENE, UniProtKB/TrEMBL | |
A6KEB3 | ENTREZGENE, UniProtKB/TrEMBL | |
F1LPX8 | ENTREZGENE, UniProtKB/TrEMBL | |
O08653 | ENTREZGENE, UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2003-04-09 | Tep1 | telomerase associated protein 1 | Tlp1 | Telomerase protein component 1 | Symbol and Name updated | 629477 | APPROVED |
2002-06-10 | Tlp1 | Telomerase protein component 1 | Symbol and Name status set to approved | 70586 | APPROVED |