UPF3B (UPF3B regulator of nonsense mediated mRNA decay)

2014-11-01  

Identity

HGNC
UPF3B
LOCATION
Xq24
LOCUSID
65109
ALIAS
HUPF3B,MRX62,MRX82,MRXS14,RENT3B,UPF3BP1,UPF3BP2,UPF3BP3,UPF3X,Upf3p-X

Other Information

Locus ID:

NCBI: 65109
MIM: 300298
HGNC: 20439
Ensembl: ENSG00000125351

Variants:

dbSNP: 65109
ClinVar: 65109
TCGA: ENSG00000125351
COSMIC: UPF3B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125351ENST00000276201Q9BZI7
ENSG00000125351ENST00000345865Q9BZI7
ENSG00000125351ENST00000619445A0A087WYC8
ENSG00000125351ENST00000636792A0A1B0GVA2

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Transcription TerminationREACTOMER-HSA-73856
Cleavage of Growing Transcript in the Termination RegionREACTOMER-HSA-109688
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163
mRNA 3'-end processingREACTOMER-HSA-72187
Transport of Mature Transcript to CytoplasmREACTOMER-HSA-72202
Transport of Mature mRNA derived from an Intron-Containing TranscriptREACTOMER-HSA-159236
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
115468742001Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1.155
180660792008NMD factors UPF2 and UPF3 bridge UPF1 to the exon junction complex and stimulate its RNA helicase activity.128
115468732001Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex.115
127188802003Y14 and hUpf3b form an NMD-activating complex.113
177047782007Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.88
166012042006Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation.49
195030782009A UPF3-mediated regulatory switch that maintains RNA surveillance.43
204792752010Insights into the recruitment of the NMD machinery from the crystal structure of a core EJC-UPF3b complex.41
192381512010Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.33
221829392012Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability.31

Citation

Dessen P

UPF3B (UPF3B regulator of nonsense mediated mRNA decay)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75497/upf3b