THG1L (tRNA-histidine guanylyltransferase 1 like)

2016-10-01  

Identity

HGNC
THG1L
LOCATION
5q33.3
LOCUSID
54974
ALIAS
ICF45,IHG-1,IHG1,SCAR28,THG1,hTHG1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54974
MIM: 618802
HGNC: 26053
Ensembl: ENSG00000113272

Variants:

dbSNP: 54974
ClinVar: 54974
TCGA: ENSG00000113272
COSMIC: THG1L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113272ENST00000231198Q9NWX6
ENSG00000113272ENST00000521655E5RIQ8
ENSG00000113272ENST00000523575H0YC78

Expression (GTEx)

0
5
10
15
20
25
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
Gene ExpressionREACTOMER-HSA-74160
tRNA processingREACTOMER-HSA-72306
tRNA modification in the nucleus and cytosolREACTOMER-HSA-6782315

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
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
221363002012Kinetic analysis of 3'-5' nucleotide addition catalyzed by eukaryotic tRNA(His) guanylyltransferase.14
185089672008IHG-1 amplifies TGF-beta1 signaling and is increased in renal fibrosis.13
154591852004Identification and characterization of a novel cytoplasm protein ICF45 that is involved in cell cycle regulation.12
217848972011IHG-1 promotes mitochondrial biogenesis by stabilizing PGC-1α.11
273072232016A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay.6
210789972010Crystal structure of a reverse polymerase.2
250081842014IHG-1 increases mitochondrial fusion and bioenergetic function.1

Citation

Dessen P

THG1L (tRNA-histidine guanylyltransferase 1 like)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56058/thg1l