UBR7 (ubiquitin protein ligase E3 component n-recognin 7)

2019-04-01  

Identity

HGNC
UBR7
LOCATION
14q32.12
LOCUSID
55148
ALIAS
C14orf130,LICAS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55148
MIM: 613816
HGNC: 20344
Ensembl: ENSG00000012963

Variants:

dbSNP: 55148
ClinVar: 55148
TCGA: ENSG00000012963
COSMIC: UBR7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000012963ENST00000013070Q8N806
ENSG00000012963ENST00000553674G3V253
ENSG00000012963ENST00000553857H0YJM2
ENSG00000012963ENST00000554232G3V2G3
ENSG00000012963ENST00000555113H0YJA0
ENSG00000012963ENST00000555329H0YJY4
ENSG00000012963ENST00000556871G3V336

Expression (GTEx)

0
10
20
30
40
50
60
70
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

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
333404552021UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.5
335711152021NOTCH1-driven UBR7 stimulates nucleotide biosynthesis to promote T cell acute lymphoblastic leukemia.9
347867302021UBR7 acts as a histone chaperone for post-nucleosomal histone H3.9
333404552021UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.5
335711152021NOTCH1-driven UBR7 stimulates nucleotide biosynthesis to promote T cell acute lymphoblastic leukemia.9
347867302021UBR7 acts as a histone chaperone for post-nucleosomal histone H3.9
309233152019Atypical plant homeodomain of UBR7 functions as an H2BK120Ub ligase and breast tumor suppressor.24
309233152019Atypical plant homeodomain of UBR7 functions as an H2BK120Ub ligase and breast tumor suppressor.24
246641172014Identification and characterization of RING-finger ubiquitin ligase UBR7 in mammalian spermatozoa.10
246641172014Identification and characterization of RING-finger ubiquitin ligase UBR7 in mammalian spermatozoa.10

Citation

Dessen P

UBR7 (ubiquitin protein ligase E3 component n-recognin 7)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57889