RIT1

Protein identityUniProt · HPA

UniProt accession

Q92963

Gene

RIT1

Ensembl

ENSG00000143622

Chromosome

1

Canonical length

219 aa

Protein class

Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

OverviewNCBI 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 development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

Canonical amino-acid sequenceUniProt

219 residues, UniProt reviewed canonical sequence.

>Q92963|RIT1
     1  MDSGTRPVGS CCSSPAGLSR EYKLVMLGAG GVGKSAMTMQ FISHRFPEDH DPTIEDAYKI
    61  RIRIDDEPAN LDILDTAGQA EFTAMRDQYM RAGEGFIICY SITDRRSFHE VREFKQLIYR
   121  VRRTDDTPVV LVGNKSDLKQ LRQVTKEEGL ALAREFSCPF FETSAAYRYY IDDVFHALVR
   181  EIRRKEKEAV LAMEKKSKPK NSVWKRLKSP FRKKKDSVT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RIT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.35

Highest tissue expression

65 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RIT1.

Disease | AllUniProt

Conditions RIT1 is implicated in, by any mechanism.

• Noonan syndrome 8 (NS8) MIM:615355

Disease | GeneticClinVar

37 pathogenic / likely-pathogenic of 408 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Noonan syndrome 8
• Noonan syndrome
• RASopathy
• Noonan syndrome and Noonan-related syndrome
• RIT1-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.65

gnomAD pLI

0.13

gnomAD missense Z

2.08

DepMap mean gene effect

-0.24

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• Ras protein signal transduction
• signal transduction

Molecular functions

• calmodulin binding
• G protein activity
• GDP binding
• GTP binding
• GTPase activity

Cellular components

• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Small GTPase
• Small GTP-binding domain
• Small GTPase, Ras-type
• P-loop containing nucleoside triphosphate hydrolase
• Ras family

KeywordsUniProt

• Cell membrane
• GTP-binding
• Hydrolase
• Membrane
• Nucleotide-binding

InteractionsUniProt · HPA

Protein binding partners of RIT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• AFDN
• BRAF
• PIK3CA
• RGL3
• RLF
• RAF1
• RALGDS