RTCB (RNA 2,3-cyclic phosphate and 5-OH ligase)

2014-11-01  

Identity

HGNC
RTCB
LOCATION
22q12.3
LOCUSID
51493
ALIAS
C22orf28,DJ149A16.6,FAAP,HSPC117
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51493
MIM: 613901
HGNC: 26935
Ensembl: ENSG00000100220

Variants:

dbSNP: 51493
ClinVar: 51493
TCGA: ENSG00000100220
COSMIC: RTCB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100220ENST00000216038Q9Y3I0

Expression (GTEx)

0
50
100
150
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 processing in the nucleusREACTOMER-HSA-6784531

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
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
213110212011HSPC117 is the essential subunit of a human tRNA splicing ligase complex.97
253784782014The mammalian tRNA ligase complex mediates splicing of XBP1 mRNA and controls antibody secretion in plasma cells.52
246082642014hCLE/C14orf166 associates with DDX1-HSPC117-FAM98B in a novel transcription-dependent shuttling RNA-transporting complex.19
287073202017Homology model of the human tRNA splicing ligase RtcB.5
249412542014HSPC117 is regulated by epigenetic modification and is involved in the migration of JEG-3 cells.2

Citation

Dessen P

RTCB (RNA 2,3-cyclic phosphate and 5-OH ligase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72922/rtcb