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TEP1 (telomerase associated protein 1)

Identity

Alias_namesmember 1
Alias_symbol (synonym)TP1
TLP1
VAULT2
p240
TROVE1
Other alias
HGNC (Hugo) TEP1
LocusID (NCBI) 7011
Atlas_Id 42519
Location 14q11.2  [Link to chromosome band 14q11]
Location_base_pair Starts at 20365667 and ends at 20413420 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PLEKHG6 (12p13.31) / TEP1 (14q11.2)TEP1 (14q11.2) / RNASE1 (14q11.2)TEP1 (14q11.2) / TEP1 (14q11.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)TEP1   11726
Cards
Entrez_Gene (NCBI)TEP1  7011  telomerase associated protein 1
AliasesTLP1; TP1; TROVE1; VAULT2; 
p240
GeneCards (Weizmann)TEP1
Ensembl hg19 (Hinxton)ENSG00000129566 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000129566 [Gene_View]  chr14:20365667-20413420 [Contig_View]  TEP1 [Vega]
ICGC DataPortalENSG00000129566
TCGA cBioPortalTEP1
AceView (NCBI)TEP1
Genatlas (Paris)TEP1
WikiGenes7011
SOURCE (Princeton)TEP1
Genetics Home Reference (NIH)TEP1
Genomic and cartography
GoldenPath hg38 (UCSC)TEP1  -     chr14:20365667-20413420 -  14q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TEP1  -     14q11.2   [Description]    (hg19-Feb_2009)
EnsemblTEP1 - 14q11.2 [CytoView hg19]  TEP1 - 14q11.2 [CytoView hg38]
Mapping of homologs : NCBITEP1 [Mapview hg19]  TEP1 [Mapview hg38]
OMIM601686   
Gene and transcription
Genbank (Entrez)AB209669 AK303307 BC126107 BC143812 BC143815
RefSeq transcript (Entrez)NM_001319035 NM_007110
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TEP1
Cluster EST : UnigeneHs.508835 [ NCBI ]
CGAP (NCI)Hs.508835
Alternative Splicing GalleryENSG00000129566
Gene ExpressionTEP1 [ NCBI-GEO ]   TEP1 [ EBI - ARRAY_EXPRESS ]   TEP1 [ SEEK ]   TEP1 [ MEM ]
Gene Expression Viewer (FireBrowse)TEP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7011
GTEX Portal (Tissue expression)TEP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99973   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99973  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99973
Splice isoforms : SwissVarQ99973
PhosPhoSitePlusQ99973
Domaine pattern : Prosite (Expaxy)NACHT (PS50837)    TEP1_N (PS51226)    TROVE (PS50988)    WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)DUF4062    NACHT_NTPase    P-loop_NTPase    TEP1_N    TROVE_dom    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom   
Domain families : Pfam (Sanger)DUF4062 (PF13271)    TEP1_N (PF05386)    TROVE (PF05731)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam13271    pfam05386    pfam05731    pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)TEP1
DMDM Disease mutations7011
Blocks (Seattle)TEP1
SuperfamilyQ99973
Human Protein AtlasENSG00000129566
Peptide AtlasQ99973
HPRD03404
IPIIPI00294519   IPI00413874   IPI00982320   IPI01013577   IPI01025358   IPI01025440   IPI01025572   IPI01024706   IPI01024868   IPI01024969   IPI01025174   IPI01026220   IPI01026242   
Protein Interaction databases
DIP (DOE-UCLA)Q99973
IntAct (EBI)Q99973
FunCoupENSG00000129566
BioGRIDTEP1
STRING (EMBL)TEP1
ZODIACTEP1
Ontologies - Pathways
QuickGOQ99973
Ontology : AmiGOtelomere maintenance via recombination  chromosome, telomeric region  p53 binding  telomerase activity  RNA binding  ATP binding  U5 snRNP  telomerase holoenzyme complex  cytoplasm  RNA-dependent DNA biosynthetic process  RNA splicing  nuclear matrix  enzyme binding  intracellular ribonucleoprotein complex  telomerase RNA binding  precatalytic spliceosome  catalytic step 2 spliceosome  
Ontology : EGO-EBItelomere maintenance via recombination  chromosome, telomeric region  p53 binding  telomerase activity  RNA binding  ATP binding  U5 snRNP  telomerase holoenzyme complex  cytoplasm  RNA-dependent DNA biosynthetic process  RNA splicing  nuclear matrix  enzyme binding  intracellular ribonucleoprotein complex  telomerase RNA binding  precatalytic spliceosome  catalytic step 2 spliceosome  
Pathways : BIOCARTATelomeres, Telomerase, Cellular Aging, and Immortality [Genes]   
NDEx NetworkTEP1
Atlas of Cancer Signalling NetworkTEP1
Wikipedia pathwaysTEP1
Orthology - Evolution
OrthoDB7011
GeneTree (enSembl)ENSG00000129566
Phylogenetic Trees/Animal Genes : TreeFamTEP1
HOVERGENQ99973
HOGENOMQ99973
Homologs : HomoloGeneTEP1
Homology/Alignments : Family Browser (UCSC)TEP1
Gene fusions - Rearrangements
Fusion : MitelmanTEP1/RNASE1 [14q11.2/14q11.2]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTEP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TEP1
dbVarTEP1
ClinVarTEP1
1000_GenomesTEP1 
Exome Variant ServerTEP1
ExAC (Exome Aggregation Consortium)TEP1 (select the gene name)
Genetic variants : HAPMAP7011
Genomic Variants (DGV)TEP1 [DGVbeta]
DECIPHERTEP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTEP1 
Mutations
ICGC Data PortalTEP1 
TCGA Data PortalTEP1 
Broad Tumor PortalTEP1
OASIS PortalTEP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTEP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTEP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TEP1
DgiDB (Drug Gene Interaction Database)TEP1
DoCM (Curated mutations)TEP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TEP1 (select a term)
intoGenTEP1
Cancer3DTEP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601686   
Orphanet
MedgenTEP1
Genetic Testing Registry TEP1
NextProtQ99973 [Medical]
TSGene7011
GENETestsTEP1
Target ValidationTEP1
Huge Navigator TEP1 [HugePedia]
snp3D : Map Gene to Disease7011
BioCentury BCIQTEP1
ClinGenTEP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7011
Chemical/Pharm GKB GenePA36443
Clinical trialTEP1
Miscellaneous
canSAR (ICR)TEP1 (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTEP1
EVEXTEP1
GoPubMedTEP1
iHOPTEP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 14:09:31 CEST 2017

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