UTP4 (UTP4 small subunit processome component)

2017-08-01  

Identity

HGNC
UTP4
LOCATION
16q22.1
LOCUSID
84916
ALIAS
CIRH1A,CIRHIN,NAIC,TEX292

Other Information

Locus ID:

NCBI: 84916
MIM: 607456
HGNC: 1983
Ensembl: ENSG00000141076

Variants:

dbSNP: 84916
ClinVar: 84916
TCGA: ENSG00000141076
COSMIC: UTP4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141076ENST00000314423Q969X6
ENSG00000141076ENST00000352319Q969X6
ENSG00000141076ENST00000562237H3BSH7
ENSG00000141076ENST00000563094Q969X6
ENSG00000141076ENST00000563299I3L4T9
ENSG00000141076ENST00000566227J3KSI1
ENSG00000141076ENST00000567235H3BPD7
ENSG00000141076ENST00000567460J3KTR0
ENSG00000141076ENST00000567500H3BRM8
ENSG00000141076ENST00000568448J3KSE6

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

Pathways

PathwaySourceExternal ID
Ribosome biogenesis in eukaryotesKEGGko03008
Ribosome biogenesis in eukaryotesKEGGhsa03008
Gene ExpressionREACTOMER-HSA-74160
rRNA processingREACTOMER-HSA-72312
Major pathway of rRNA processing in the nucleolus and cytosolREACTOMER-HSA-6791226
rRNA modification in the nucleus and cytosolREACTOMER-HSA-6790901
rRNA processing in the nucleus and cytosolREACTOMER-HSA-8868773

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
124179872002A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis.29
162258632005Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis.7
197327662009Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1.7
283500962017CIRH1A augments the proliferation of RKO colorectal cancer cells.0

Citation

Dessen P

UTP4 (UTP4 small subunit processome component)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/57031/utp4