RNF19A (ring finger protein 19A, RBR E3 ubiquitin protein ligase)

2007-04-01  

Identity

HGNC
RNF19A
LOCATION
8q22.2
LOCUSID
25897
ALIAS
RNF19
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 25897
MIM: 607119
HGNC: 13432
Ensembl: ENSG00000034677

Variants:

dbSNP: 25897
ClinVar: 25897
TCGA: ENSG00000034677
COSMIC: RNF19A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000034677ENST00000341084Q9NV58
ENSG00000034677ENST00000432381A3KCU8
ENSG00000034677ENST00000517584A0A0C4DGD6
ENSG00000034677ENST00000519449Q9NV58
ENSG00000034677ENST00000519527E7ETB2
ENSG00000034677ENST00000522369E7EQ63
ENSG00000034677ENST00000523167E7EQV8
ENSG00000034677ENST00000523481E5RJH6

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

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
121453082002Dorfin ubiquitylates mutant SOD1 and prevents mutant SOD1-mediated neurotoxicity.40
154567872004Physical and functional interaction between Dorfin and Valosin-containing protein that are colocalized in ubiquitylated inclusions in neurodegenerative disorders.30
127503862003Dorfin localizes to Lewy bodies and ubiquitylates synphilin-1.17
128759802003Dorfin localizes to the ubiquitylated inclusions in Parkinson's disease, dementia with Lewy bodies, multiple system atrophy, and amyotrophic lateral sclerosis.8
171575132007Dorfin-CHIP chimeric proteins potently ubiquitylate and degrade familial ALS-related mutant SOD1 proteins and reduce their cellular toxicity.8
150303902004Dorfin prevents cell death by reducing mitochondrial localizing mutant superoxide dismutase 1 in a neuronal cell model of familial amyotrophic lateral sclerosis.7
187218672008Cooperative exonization of MaLR and AluJo elements contributed an alternative promoter and novel splice variants of RNF19.4
224937212012Averaged differential expression for the discovery of biomarkers in the blood of patients with prostate cancer.2

Citation

Dessen P

RNF19A (ring finger protein 19A, RBR E3 ubiquitin protein ligase)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47168/rnf19a