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Aliases for RIT1 Gene

Aliases for RIT1 Gene

  • Ras-Like Without CAAX 1 2 3
  • Ras-Like Protein Expressed In Many Tissues 3 4
  • Ras-Like Without CAAX Protein 1 3 4
  • GTP-Binding Protein Roc1 2 3
  • RIBB 3 4
  • ROC1 3 4
  • RIT 3 4
  • Ric (Drosophila)-Like, Expressed In Many Tissues 2
  • Ric-Like, Expressed In Many Tissues 3
  • Expressed In Many Tissues 2
  • Ric-Like 2
  • NS8 3

External Ids for RIT1 Gene

Previous HGNC Symbols for RIT1 Gene

  • RIT

Previous GeneCards Identifiers for RIT1 Gene

  • GC01M153733
  • GC01M151617
  • GC01M152647
  • GC01M153086
  • GC01M152682
  • GC01M154134
  • GC01M127228

Summaries for RIT1 Gene

Entrez Gene Summary for RIT1 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]

GeneCards Summary for RIT1 Gene

RIT1 (Ras-Like Without CAAX 1) is a Protein Coding gene. Diseases associated with RIT1 include noonan syndrome 8 and rit1-related noonan syndrome. Among its related pathways are Signaling by GPCR and Interleukin receptor SHC signaling. GO annotations related to this gene include GTP binding and calmodulin binding. An important paralog of this gene is RAP2B.

UniProtKB/Swiss-Prot for RIT1 Gene

  • 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 wide variety of cellular functions, including cell proliferation, survival, and differentiation.

Gene Wiki entry for RIT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RIT1 Gene

Genomics for RIT1 Gene

Regulatory Elements for RIT1 Gene

Genomic Location for RIT1 Gene

Chromosome:
1
Start:
155,897,808 bp from pter
End:
155,911,404 bp from pter
Size:
13,597 bases
Orientation:
Minus strand

Genomic View for RIT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RIT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RIT1 Gene

Proteins for RIT1 Gene

  • Protein details for RIT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92963-RIT1_HUMAN
    Recommended name:
    GTP-binding protein Rit1
    Protein Accession:
    Q92963
    Secondary Accessions:
    • B4DQE8
    • O00646
    • O00720
    • Q5VY89
    • Q5VY90

    Protein attributes for RIT1 Gene

    Size:
    219 amino acids
    Molecular mass:
    25145 Da
    Quaternary structure:
    • Interacts with MLLT4, the C-terminal domain of RALGDS and RLF, but not with RIN1 and PIK3CA. RLF binds exclusively to the active GTP-bound form. Strongly interacts with BRAF, but only weakly with RAF1. BARF and RAF1 association is dependent upon the GTP-bound state. Interacts with RGL3 (By similarity).
    Miscellaneous:
    • Shows rapid uncatalyzed guanine nucleotide dissociation rates, which are much faster than those of most Ras subfamily members
    • Stimulation of the NGF and EGF receptor signaling pathways results in rapid and prolonged activation

    Three dimensional structures from OCA and Proteopedia for RIT1 Gene

    Alternative splice isoforms for RIT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RIT1 Gene

Proteomics data for RIT1 Gene at MOPED

Post-translational modifications for RIT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RIT1 Gene

Antibody Products

No data available for DME Specific Peptides for RIT1 Gene

Domains & Families for RIT1 Gene

Gene Families for RIT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q92963

UniProtKB/Swiss-Prot:

RIT1_HUMAN :
  • Belongs to the small GTPase superfamily. Ras family.
Family:
  • Belongs to the small GTPase superfamily. Ras family.
genes like me logo Genes that share domains with RIT1: view

Function for RIT1 Gene

Molecular function for RIT1 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Alternates between an inactive form bound to GDP and an active form bound to GTP
UniProtKB/Swiss-Prot 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 wide variety of cellular functions, including cell proliferation, survival, and differentiation.

Gene Ontology (GO) - Molecular Function for RIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity --
GO:0005515 protein binding IPI 10545207
GO:0005516 calmodulin binding TAS 8918462
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with RIT1: view
genes like me logo Genes that share phenotypes with RIT1: view

Animal Model Products

miRNA for RIT1 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RIT1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RIT1 Gene

Localization for RIT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RIT1 Gene

Cell membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RIT1 Gene COMPARTMENTS Subcellular localization image for RIT1 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for RIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane --
genes like me logo Genes that share ontologies with RIT1: view

Pathways & Interactions for RIT1 Gene

genes like me logo Genes that share pathways with RIT1: view

Gene Ontology (GO) - Biological Process for RIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport --
GO:0006913 nucleocytoplasmic transport --
GO:0007165 signal transduction TAS 8918462
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0007265 Ras protein signal transduction IDA 23791108
genes like me logo Genes that share ontologies with RIT1: view

No data available for SIGNOR curated interactions for RIT1 Gene

Drugs & Compounds for RIT1 Gene

(3) Drugs for RIT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RIT1: view

Transcripts for RIT1 Gene

Unigene Clusters for RIT1 Gene

Ras-like without CAAX 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RIT1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RIT1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c
SP1: - - -
SP2: -
SP3: - - - -
SP4: - - -
SP5: - - - -
SP6: - -
SP7: - -

Relevant External Links for RIT1 Gene

GeneLoc Exon Structure for
RIT1
ECgene alternative splicing isoforms for
RIT1

Expression for RIT1 Gene

mRNA expression in normal human tissues for RIT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RIT1 Gene

This gene is overexpressed in Whole Blood (x5.6).

Protein differential expression in normal tissues from HIPED for RIT1 Gene

This gene is overexpressed in Heart (55.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RIT1 Gene



SOURCE GeneReport for Unigene cluster for RIT1 Gene Hs.491234

mRNA Expression by UniProt/SwissProt for RIT1 Gene

Q92963-RIT1_HUMAN
Tissue specificity: Expressed in many tissues
genes like me logo Genes that share expression patterns with RIT1: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for RIT1 Gene

Orthologs for RIT1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RIT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RIT1 35
  • 95.11 (n)
  • 99.54 (a)
RIT1 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RIT1 35
  • 90.26 (n)
  • 96.8 (a)
RIT1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rit1 35
  • 87.21 (n)
  • 94.98 (a)
Rit1 16
Rit1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RIT1 35
  • 99.72 (n)
  • 99.15 (a)
RIT1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rit1 35
  • 87.86 (n)
  • 95.65 (a)
oppossum
(Monodelphis domestica)
Mammalia RIT1 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves RIT1 35
  • 79.19 (n)
  • 94.37 (a)
RIT1 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RIT1 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486360 35
  • 71.11 (n)
  • 85.93 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.19738 35
rit1 35
  • 70.42 (n)
  • 78.43 (a)
rit1 36
  • 77 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ric 36
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rap-3 36
  • 35 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RSR1 36
  • 32 (a)
OneToMany
Species with no ortholog for RIT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RIT1 Gene

ENSEMBL:
Gene Tree for RIT1 (if available)
TreeFam:
Gene Tree for RIT1 (if available)

Paralogs for RIT1 Gene

Pseudogenes.org Pseudogenes for RIT1 Gene

genes like me logo Genes that share paralogs with RIT1: view

Variants for RIT1 Gene

Sequence variations from dbSNP and Humsavar for RIT1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs490498 -- 155,911,161(+) CAGAG(A/G)TTCCG intron-variant, upstream-variant-2KB
rs493446 -- 155,910,782(-) CAACC(C/G)AGGAA intron-variant, missense, reference, utr-variant-5-prime
rs527113 -- 155,909,465(+) TATTA(A/G)GATAT intron-variant
rs536870 -- 155,906,915(+) agcct(G/T)ggcaa intron-variant
rs550092 -- 155,909,239(+) CGGGC(A/G/T)TGGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RIT1 Gene

Variant ID Type Subtype PubMed ID
esv33869 CNV Loss 17666407

Variation tolerance for RIT1 Gene

Residual Variation Intolerance Score: 30.58% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.06; 1.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RIT1 Gene

HapMap Linkage Disequilibrium report
RIT1
Human Gene Mutation Database (HGMD)
RIT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RIT1 Gene

Disorders for RIT1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RIT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
noonan syndrome 8
  • ns8
rit1-related noonan syndrome
  • noonan syndrome 8
noonan syndrome 1
  • noonan syndrome
- elite association
Search RIT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RIT1_HUMAN
  • Noonan syndrome 8 (NS8) [MIM:615355]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. {ECO:0000269 PubMed:23791108}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RIT1

Genetic Association Database (GAD)
RIT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RIT1
genes like me logo Genes that share disorders with RIT1: view

No data available for Genatlas for RIT1 Gene

Publications for RIT1 Gene

  1. Rin, a neuron-specific and calmodulin-binding small G-protein, and Rit define a novel subfamily of ras proteins. (PMID: 8824319) Lee C.H.J. … Zack D.J. (J. Neurosci. 1996) 2 23 67
  2. Src-dependent TrkA transactivation is required for pituitary adenylate cyclase-activating polypeptide 38-mediated Rit activation and neuronal differentiation. (PMID: 20219970) Shi G.X. … Andres D.A. (Mol. Biol. Cell 2010) 23 67
  3. cDNA cloning, sequence identification and tissue expression distribution of three novel porcine genes: UCHL3, RIT1 and CCND3. (PMID: 18202904) Liu G.Y. (Mol. Biol. Rep. 2009) 23 67
  4. Rit mutants confirm role of MEK/ERK signaling in neuronal differentiation and reveal novel Par6 interaction. (PMID: 17976838) Rudolph J.L. … Andres D.A. (Biochim. Biophys. Acta 2007) 23 67
  5. Analysis of Rit signaling and biological activity. (PMID: 16757348) Andres D.A. … Shi G.X. (Meth. Enzymol. 2006) 23 67

Products for RIT1 Gene

Sources for RIT1 Gene

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