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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
31
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cardiovascular phenotype Likely pathogenic; Pathogenic rs869025196, rs869025194, rs483352822, rs869312687, rs886041414, rs730881014, rs672601334, rs672601335, rs1673399238 RCV003162683
RCV002453562
RCV004020021
RCV003372654
RCV003167957
View all (4 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital heart disease Likely pathogenic; Pathogenic rs730881014 RCV003483526
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Downslanted palpebral fissures Likely pathogenic; Pathogenic rs869312687 RCV000626786
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertelorism Likely pathogenic; Pathogenic rs869312687 RCV000626786
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cardio-facio-cutaneous syndrome Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Clear cell carcinoma of kidney Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL MALFORMATION SYNDROMES ASSOCIATED WITH SHORT STATURE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations