RIT1 (Ras like without CAAX 1)

2003-02-01  

Identity

HGNC
RIT1
LOCATION
1q22
LOCUSID
6016
ALIAS
NS8,RIBB,RIT,ROC1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6016
MIM: 609591
HGNC: 10023
Ensembl: ENSG00000143622

Variants:

dbSNP: 6016
ClinVar: 6016
TCGA: ENSG00000143622
COSMIC: RIT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143622ENST00000368322Q92963
ENSG00000143622ENST00000368323Q92963
ENSG00000143622ENST00000461050V9GY29
ENSG00000143622ENST00000539040Q92963
ENSG00000143622ENST00000609492V9GYC3
ENSG00000143622ENST00000651833A0A494C0U3
ENSG00000143622ENST00000651853A0A494C0S1

Expression (GTEx)

0
5
10
15
20
25
30
35
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
Signal TransductionREACTOMER-HSA-162582
Signalling by NGFREACTOMER-HSA-166520
NGF signalling via TRKA from the plasma membraneREACTOMER-HSA-187037
Signalling to ERKsREACTOMER-HSA-187687
Signalling to p38 via RIT and RINREACTOMER-HSA-187706

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
237911082013Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.75
156320822005Rit contributes to nerve growth factor-induced neuronal differentiation via activation of B-Raf-extracellular signal-regulated kinase and p38 mitogen-activated protein kinase cascades.34
244690552014Oncogenic RIT1 mutations in lung adenocarcinoma.22
237652262013Novel recurrent mutations in the RAS-like GTP-binding gene RIT1 in myeloid malignancies.19
237702872013Rit subfamily small GTPases: regulators in neuronal differentiation and survival.19
214447262011A rit GTPase-p38 mitogen-activated protein kinase survival pathway confers resistance to cellular stress.16
271011342016Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.16
126687292003Rit promotes MEK-independent neurite branching in human neuroblastoma cells.15
251249942014Further evidence of the importance of RIT1 in Noonan syndrome.14
267144972016Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.13

Citation

Dessen P

RIT1 (Ras like without CAAX 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42122/rit1