LZTR1 (leucine zipper like transcription regulator 1)

2018-07-01  

Identity

HGNC
LZTR1
LOCATION
22q11.21
LOCUSID
8216
ALIAS
BTBD29,LZTR-1,NS10,NS2,SWNTS2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8216
MIM: 600574
HGNC: 6742
Ensembl: ENSG00000099949

Variants:

dbSNP: 8216
ClinVar: 8216
TCGA: ENSG00000099949
COSMIC: LZTR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000099949ENST00000414985F8WB67
ENSG00000099949ENST00000415354F8WEQ8
ENSG00000099949ENST00000415817H7C0X1
ENSG00000099949ENST00000439171H7BZQ9
ENSG00000099949ENST00000443265F8WCB6
ENSG00000099949ENST00000452988H7C305
ENSG00000099949ENST00000497716A0A2R8Y4K9
ENSG00000099949ENST00000642151A0A2R8Y656
ENSG00000099949ENST00000644435A0A2R8Y7K3
ENSG00000099949ENST00000645935A0A2R8YCD2
ENSG00000099949ENST00000646124Q8N653
ENSG00000099949ENST00000646124A0A384NL67

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
243628172014Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.42
257957932015Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.35
304427622018Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.25
163569342006The BTB-kelch protein LZTR-1 is a novel Golgi protein that is degraded upon induction of apoptosis.22
304427662018LZTR1 is a regulator of RAS ubiquitination and signaling.19
294698222018Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.14
254809132015Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.12
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11
253354932015Expanding the mutational spectrum of LZTR1 in schwannomatosis.11
304813042019Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.9

Citation

Dessen P

LZTR1 (leucine zipper like transcription regulator 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57519/lztr1