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Aliases for RIT1 Gene

Aliases for RIT1 Gene

  • Ras Like Without CAAX 1 2 3 5
  • Ras-Like Protein Expressed In Many Tissues 3 4
  • Ric-Like, Expressed In Many Tissues 2 3
  • Ras-Like Without CAAX Protein 1 3 4
  • GTP-Binding Protein Roc1 2 3
  • ROC1 3 4
  • RIBB 3 4
  • RIT 3 4
  • Ric (Drosophila)-Like, Expressed In Many Tissues 2
  • GTP-Binding Protein Rit1 3
  • 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 RET signaling and Neurotrophic factor-mediated Trk receptor signaling. GO annotations related to this gene include GTP binding and calmodulin binding. An important paralog of this gene is RIT2.

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

Enhancers for RIT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F155965 0.9 FANTOM5 ENCODE 33.5 -64.0 -63973 19.0 CREB3L1 MLX ZFP64 FEZF1 DMAP1 SLC30A9 ZNF416 ZNF143 ZNF263 SP3 RIT1 ARHGEF2 PAQR6 KIAA0907 ASH1L RXFP4 SCARNA4 LAMTOR2 UBQLN4 SYT11
GH01F155958 1.3 Ensembl ENCODE 25.6 -49.7 -49726 4.4 INSM2 KLF17 SIN3A RAD21 ZNF121 RCOR1 FOS DEK EGR2 SMARCC1 RIT1 LOC107985210 ARHGEF2 KIAA0907 SCARNA4 LAMTOR2 UBQLN4 LOC107985209 MIR6738
GH01F155937 1.7 FANTOM5 Ensembl ENCODE 20.7 -31.8 -31816 10.9 HDGF PKNOX1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 LOC101928120 RIT1 KIAA0907 ASH1L ARHGEF2 LOC107985210 SNORA80E LAMTOR2 UBQLN4 MSTO2P
GH01F155909 1 ENCODE 20.2 +0.4 402 3.5 HDGF PKNOX1 WRNIP1 ZFP64 ARID4B SIN3A YY1 SLC30A9 PAF1 SP3 RIT1 KIAA0907 LOC101928120 ASH1L-AS1 GBA LOC107985209 PIR40976
GH01F155913 0.2 ENCODE 19.3 -2.9 -2863 2.0 PKNOX1 GATA3 GATA2 POLR2A ZNF366 PAF1 ZNF362 HLF ZNF501 ZSCAN23 RIT1 GC01M155922
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around RIT1 on UCSC Golden Path with GeneCards custom track

Promoters for RIT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000545629 504 1801 HDGF ATF1 WRNIP1 ZFP64 ARID4B SIN3A ZNF48 YY1 SLC30A9 GLIS2

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

Genes around RIT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RIT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 AFDN, 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

Post-translational modifications for RIT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RIT1 Gene

Antibody Products

  • Abcam antibodies for RIT1
  • Santa Cruz Biotechnology (SCBT) Antibodies for RIT1

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 IDA 10545207
GO:0005515 protein binding IPI 10545207
GO:0005516 calmodulin binding TAS 8918462
GO:0005525 GTP binding IEA,IDA 10545207
genes like me logo Genes that share ontologies with RIT1: view
genes like me logo Genes that share phenotypes with RIT1: view

Human Phenotype Ontology for RIT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RIT1 Gene

MGI Knock Outs for RIT1:

Animal Model Products

miRNA for RIT1 Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
cytosol 3
mitochondrion 2
nucleus 2

Gene Ontology (GO) - Cellular Components for RIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
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:0007165 signal transduction IEA,TAS 8918462
GO:0007264 small GTPase mediated signal transduction IEA --
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

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, MaxQB, and MOPED for RIT1 Gene



NURSA nuclear receptor signaling pathways regulating expression of RIT1 Gene:

RIT1

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

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
chimpanzee
(Pan troglodytes)
Mammalia RIT1 34 35
  • 99.72 (n)
cow
(Bos Taurus)
Mammalia RIT1 34 35
  • 95.11 (n)
dog
(Canis familiaris)
Mammalia RIT1 34 35
  • 90.26 (n)
rat
(Rattus norvegicus)
Mammalia Rit1 34
  • 87.86 (n)
mouse
(Mus musculus)
Mammalia Rit1 34 16 35
  • 87.21 (n)
oppossum
(Monodelphis domestica)
Mammalia RIT1 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves RIT1 34 35
  • 79.19 (n)
lizard
(Anolis carolinensis)
Reptilia RIT1 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486360 34
  • 71.11 (n)
zebrafish
(Danio rerio)
Actinopterygii rit1 34 35
  • 70.42 (n)
Dr.19738 34
fruit fly
(Drosophila melanogaster)
Insecta Ric 35
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rap-3 35
  • 35 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RSR1 35
  • 32 (a)
OneToMany
Species where no ortholog for RIT1 was found in the sources mined by GeneCards:
  • 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

Variants for RIT1 Gene

Sequence variations from dbSNP and Humsavar for RIT1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs483352822 Noonan syndrome 8 (NS8) [MIM:615355], Pathogenic 155,904,470(-) TATAT(A/C/G)AGGGC reference, missense
rs672601334 Noonan syndrome 8 (NS8) [MIM:615355], Pathogenic 155,904,798(-) AGATG(C/G)TTATA reference, missense
rs672601335 Noonan syndrome 8 (NS8) [MIM:615355], Pathogenic 155,904,456(-) AGAAG(C/G)GTTTA reference, missense
rs730881014 Noonan syndrome 8 (NS8) [MIM:615355], Pathogenic 155,904,494(-) GAGTT(G/T)ACAGC reference, missense
rs869025193 Noonan syndrome 8 (NS8) [MIM:615355], Pathogenic 155,904,498(-) GGCAG(A/G)GTTTA reference, missense

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: 30.6% 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

Human Gene Mutation Database (HGMD)
RIT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RIT1

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

Disorders for RIT1 Gene

MalaCards: The human disease database

(5) 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
pseudo-turner syndrome
  • noonan syndrome
noonan syndrome 1
  • noonan syndrome
ptpn11-related noonan syndrome
  • noonan syndrome 1
- elite association - COSMIC cancer census association via MalaCards
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, ECO:0000269 PubMed:25959749}. 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 3 4 22 64
  2. Rit contributes to nerve growth factor-induced neuronal differentiation via activation of B-Raf-extracellular signal-regulated kinase and p38 mitogen-activated protein kinase cascades. (PMID: 15632082) Shi G.-X. … Andres D.A. (Mol. Cell. Biol. 2005) 3 4 22 64
  3. RIC, a calmodulin-binding Ras-like GTPase. (PMID: 8918462) Wes P.D. … Montell C. (EMBO J. 1996) 2 3 4 64
  4. Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. (PMID: 25959749) Koenighofer M. … Bodamer O.A. (Clin. Genet. 2016) 3 4 64
  5. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. (PMID: 23791108) Aoki Y. … Matsubara Y. (Am. J. Hum. Genet. 2013) 3 4 64

Products for RIT1 Gene

Sources for RIT1 Gene

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