Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6016
Gene name Gene Name - the full gene name approved by the HGNC.
Ras like without CAAX 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RIT1
Synonyms (NCBI Gene) Gene synonyms aliases
NS8, RIBB, RIT, ROC1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q22
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal dev
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs483352822 C>A,G,T Pathogenic, not-provided Coding sequence variant, missense variant
rs563231684 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs672601334 G>C Pathogenic Coding sequence variant, missense variant
rs672601335 C>G Pathogenic Coding sequence variant, missense variant
rs730881014 A>C,G,T Pathogenic Synonymous variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019637 hsa-miR-340-5p Sequencing 20371350
MIRT024228 hsa-miR-218-5p Sequencing 20371350
MIRT437587 hsa-miR-125a-5p Microarray, qRT-PCR 22815788
MIRT1307669 hsa-miR-106a CLIP-seq
MIRT1307670 hsa-miR-106b CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IDA 10545207
GO:0003924 Function GTPase activity IEA
GO:0003925 Function G protein activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609591 10023 ENSG00000143622
Protein
UniProt ID Q92963
Protein name GTP-binding protein Rit1 (EC 3.6.5.2) (Ras-like protein expressed in many tissues) (Ras-like without CAAX protein 1)
Protein function Plays a crucial role in coupling NGF stimulation to the activation of both EPHB2 and MAPK14 signaling pathways and in NGF-dependent neuronal differentiation. Involved in ELK1 transactivation through the Ras-MAPK signaling cascade that mediates a
PDB 4KLZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 23 184 Ras family Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in many tissues.
Sequence
Sequence length 219
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Noonan Syndrome noonan syndrome 1, Noonan syndrome and Noonan-related syndrome, noonan syndrome 8, noonan syndrome rs869025191, rs730881014, rs869025194, rs869312687, rs672601335, rs869025197, rs1557962794, rs869025193, rs483352822, rs777520196, rs868208063, rs869025196, rs1571999498, rs869025192, rs886041414
View all (4 more)
N/A
neoplasm Neoplasm rs869025192 N/A
Nonimmune Hydrops Fetalis non-immune hydrops fetalis rs730881014 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Crohn Disease Crohn's disease N/A N/A GWAS
Eczema Eczema N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease N/A N/A GWAS
Parkinson disease Parkinson disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 34887308
Adenocarcinoma of Lung Associate 25079552, 27226556, 34846918
Alcohol Related Disorders Associate 27101134
Autistic Disorder Associate 18378158
Brain Diseases Associate 18378158
Cardiofaciocutaneous syndrome Associate 24896146
Cardiomyopathies Associate 26757980
Cardiomyopathy Hypertrophic Associate 26757980, 27101134, 30732632, 33568805, 36140671, 36184070
Cardiovascular Diseases Associate 27101134
Cell Transformation Neoplastic Associate 34846918