TTLL1 (tubulin tyrosine ligase like 1)

2014-08-01  

Identity

HGNC
TTLL1
LOCATION
22q13.2
LOCUSID
25809
ALIAS
C22orf7,HS323M22B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 25809
MIM: 608955
HGNC: 1312
Ensembl: ENSG00000100271

Variants:

dbSNP: 25809
ClinVar: 25809
TCGA: ENSG00000100271
COSMIC: TTLL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100271ENST00000266254O95922
ENSG00000100271ENST00000266254A0A024R4U6
ENSG00000100271ENST00000331018O95922
ENSG00000100271ENST00000439248O95922
ENSG00000100271ENST00000440761O95922

Expression (GTEx)

0
5
10
15
20
25
30
35
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

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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
205643192010Prostate cancer risk-associated variants reported from genome-wide association studies: meta-analysis and their contribution to genetic Variation.37
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
205643192010Prostate cancer risk-associated variants reported from genome-wide association studies: meta-analysis and their contribution to genetic Variation.37
197677532009Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.243
197677532009Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.243

Citation

Dessen P

TTLL1 (tubulin tyrosine ligase like 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54735/case-report-explorer/js/gene-explorer/