TTI1 (TELO2 interacting protein 1)

2014-11-01  

Identity

HGNC
TTI1
LOCATION
20q11.23
LOCUSID
9675
ALIAS
KIAA0406,smg-10
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9675
MIM: 614425
HGNC: 29029
Ensembl: ENSG00000101407

Variants:

dbSNP: 9675
ClinVar: 9675
TCGA: ENSG00000101407
COSMIC: TTI1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101407ENST00000373447O43156
ENSG00000101407ENST00000373448O43156
ENSG00000101407ENST00000449821O43156
ENSG00000101407ENST00000620381A0A087WT32

Expression (GTEx)

0
5
10
15
20
25
30
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

Pathways

PathwaySourceExternal ID
mTOR signaling pathwayKEGGko04150
mTOR signaling pathwayKEGGhsa04150

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
364031972023TTI1 promotes non-small-cell lung cancer progression by regulating the mTOR signaling pathway.2
367247852023Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.1
364031972023TTI1 promotes non-small-cell lung cancer progression by regulating the mTOR signaling pathway.2
367247852023Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.1
348385212022Structure of the Human TELO2-TTI1-TTI2 Complex.6
348385212022Structure of the Human TELO2-TTI1-TTI2 Complex.6
246571682014Inositol pyrophosphates mediate the DNA-PK/ATM-p53 cell death pathway by regulating CK2 phosphorylation of Tti1/Tel2.72
246571682014Inositol pyrophosphates mediate the DNA-PK/ATM-p53 cell death pathway by regulating CK2 phosphorylation of Tti1/Tel2.72
204272872010Tti1 and Tel2 are critical factors in mammalian target of rapamycin complex assembly.129
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.14
208106502010A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability.0
204272872010Tti1 and Tel2 are critical factors in mammalian target of rapamycin complex assembly.129
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.14
208106502010A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability.0

Citation

Dessen P

TTI1 (TELO2 interacting protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75305/deep-insight-explorer/js/lib/bootstrap.min.js