JOSD1 (Josephin domain containing 1)

2014-08-01  

Identity

HGNC
JOSD1
LOCATION
22q13.1
LOCUSID
9929
ALIAS
dJ508I15.2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9929
MIM: 615323
HGNC: 28953
Ensembl: ENSG00000100221

Variants:

dbSNP: 9929
ClinVar: 9929
TCGA: ENSG00000100221
COSMIC: JOSD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100221ENST00000216039Q15040
ENSG00000100221ENST00000216039A0A024R1P5
ENSG00000100221ENST00000412832B0QY57
ENSG00000100221ENST00000417712B0QY55
ENSG00000100221ENST00000427389B0QY56
ENSG00000100221ENST00000456626B0QY58
ENSG00000100221ENST00000545590H0YGT9

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
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
DeubiquitinationREACTOMER-HSA-5688426
Josephin domain DUBsREACTOMER-HSA-5689877

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
283551052017JOSD1 Negatively Regulates Type-I Interferon Antiviral Activity by Deubiquitinating and Stabilizing SOCS1.5
185797252008Identification of NR5A1 (SF-1/AD4BP) gene expression modulators by large-scale gain and loss of function studies.4

Citation

Dessen P

JOSD1 (Josephin domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54389/josd1