Gene Gene information from NCBI Gene database.
Entrez ID 6016
Gene name Ras like without CAAX 1
Gene symbol RIT1
Synonyms (NCBI Gene)
NS8RIBBRITROC1
Chromosome 1
Chromosome location 1q22
Summary 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.
22
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.
493
miRTarBase ID miRNA Experiments Reference
MIRT019637 hsa-miR-340-5p Sequencing 20371350
MIRT024228 hsa-miR-218-5p Sequencing 20371350
MIRT437587 hsa-miR-125a-5p MicroarrayqRT-PCR 22815788
MIRT1307669 hsa-miR-106a CLIP-seq
MIRT1307670 hsa-miR-106b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609591 10023 ENSG00000143622
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
501
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiovascular phenotype Likely pathogenic; Pathogenic rs869025196, rs869025194, rs483352822, rs869312687, rs886041414, rs730881014, rs672601334, rs672601335, rs1673399238 RCV003162683
RCV002453562
RCV004020021
RCV003372654
RCV003167957
RCV003372696
RCV002399414
RCV002433549
RCV003372960
Congenital heart disease Likely pathogenic; Pathogenic rs730881014 RCV003483526
Downslanted palpebral fissures Likely pathogenic; Pathogenic rs869312687 RCV000626786
Hypertelorism Likely pathogenic; Pathogenic rs869312687 RCV000626786
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardio-facio-cutaneous syndrome Uncertain significance rs760053864 RCV001261145
Clear cell carcinoma of kidney Likely benign rs770237120 RCV005921373
Fibrous dysplasia of jaw Uncertain significance rs1183271427 RCV001261146
Associations from Text MiningDisease 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