UPF3A (UPF3A regulator of nonsense mediated mRNA decay)

2014-08-01  

Identity

HGNC
UPF3A
LOCATION
13q34
LOCUSID
65110
ALIAS
HUPF3A,RENT3A,UPF3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 65110
MIM: 605530
HGNC: 20332
Ensembl: ENSG00000169062

Variants:

dbSNP: 65110
ClinVar: 65110
TCGA: ENSG00000169062
COSMIC: UPF3A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169062ENST00000351487Q9H1J1
ENSG00000169062ENST00000375299Q9H1J1
ENSG00000169062ENST00000492270A0A087WZ33

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
RNA transportKEGGko03013
RNA transportKEGGhsa03013
mRNA surveillance pathwayKEGGko03015
mRNA surveillance pathwayKEGGhsa03015
Exon junction complex (EJC)KEGGhsa_M00430
Exon junction complex (EJC)KEGGM00430
Gene ExpressionREACTOMER-HSA-74160
Nonsense-Mediated Decay (NMD)REACTOMER-HSA-927802
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)REACTOMER-HSA-975957

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
115468732001Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex.115
150045472004The structural basis for the interaction between nonsense-mediated mRNA decay factors UPF2 and UPF3.74
166012042006Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation.49
195030782009A UPF3-mediated regulatory switch that maintains RNA surveillance.43
178039422007Communication with the exon-junction complex and activation of nonsense-mediated decay by human Upf proteins occur in the cytoplasm.42
309771182019U2-related proteins CHERP and SR140 contribute to colorectal tumorigenesis via alternative splicing regulation.0

Citation

Dessen P

UPF3A (UPF3A regulator of nonsense mediated mRNA decay)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54757/upf3a