TEP1 (telomerase associated protein 1)

2003-11-01 Affiliation

Identity

HGNC

TEP1

LOCATION

14q11.2

LOCUSID

7011

ALIAS

TLP1,TP1,TROVE1,VAULT2,p240

FUSION GENES

Show Gene Fusions

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

Other Information

Locus ID:

NCBI: 7011
MIM: 601686
HGNC: 11726
Ensembl: ENSG00000129566

Variants:

dbSNP: 7011
ClinVar: 7011
TCGA: ENSG00000129566
COSMIC: TEP1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000129566	ENST00000262715	Q99973
ENSG00000129566	ENST00000471684	H0YJP8
ENSG00000129566	ENST00000553365	H0YIY9
ENSG00000129566	ENST00000553984	H0YIZ2
ENSG00000129566	ENST00000555008	G3V2A4
ENSG00000129566	ENST00000555727	G3V470
ENSG00000129566	ENST00000556488	H0YJF6
ENSG00000129566	ENST00000556549	G3V591
ENSG00000129566	ENST00000556935	G3V5X7
ENSG00000129566	ENST00000557314	H0YJ53

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
17848914	2007	Genetic variation in five genes important in telomere biology and risk for breast cancer.	32
18676680	2008	Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.	32
19692168	2010	Genetic susceptibility to distinct bladder cancer subphenotypes.	25
19329795	2009	Telomerase-associated protein 1, HSP90, and topoisomerase IIalpha associate directly with the BLM helicase in immortalized cells using ALT and modulate its helicase activity using telomeric DNA substrates.	21
19766477	2009	Polymorphisms in telomere-associated genes, breast cancer susceptibility and prognosis.	16
12135483	2002	Differential regulation of telomerase activity by six telomerase subunits.	15
18938767	2008	Elevated insulin-like growth factor 1 receptor, hepatocyte growth factor receptor and telomerase protein expression in mild ulcerative colitis.	12
19625176	2009	PTEN identified as important risk factor of chronic obstructive pulmonary disease.	12
20800603	2010	Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.	12

Citation

Dessen P

TEP1 (telomerase associated protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/42519/tep1