ZNRF1 (zinc and ring finger 1)

2014-11-01  

Identity

HGNC
ZNRF1
LOCATION
16q23.1
LOCUSID
84937
ALIAS
NIN283
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84937
MIM: 612060
HGNC: 18452
Ensembl: ENSG00000186187

Variants:

dbSNP: 84937
ClinVar: 84937
TCGA: ENSG00000186187
COSMIC: ZNRF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186187ENST00000320619Q8ND25
ENSG00000186187ENST00000335325Q8ND25
ENSG00000186187ENST00000566250H3BRB6
ENSG00000186187ENST00000567962Q8ND25
ENSG00000186187ENST00000568351H3BUF0
ENSG00000186187ENST00000568511J3KTB9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
145618662003ZNRF proteins constitute a family of presynaptic E3 ubiquitin ligases.14
197375342009ZNRF1 interacts with tubulin and regulates cell morphogenesis.9
198442552010Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.9
258198962015Common variants in or near ZNRF1, COLEC12, SCYL1BP1 and API5 are associated with diabetic retinopathy in Chinese patients with type 2 diabetes.9
227979232012ZNRF2 is released from membranes by growth factors and, together with ZNRF1, regulates the Na+/K+ATPase.6
296261592018Structural insights into the nanomolar affinity of RING E3 ligase ZNRF1 for Ube2N and its functional implications.3

Citation

Dessen P

ZNRF1 (zinc and ring finger 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/76470/znrf1