Human Gene RIT1 (ENST00000368323.8_12) from GENCODE V47lift37
  Description: Ras like without CAAX 1, transcript variant 2 (from RefSeq NM_006912.6)
Gencode Transcript: ENST00000368323.8_12
Gencode Gene: ENSG00000143622.12_19
Transcript (Including UTRs)
   Position: hg19 chr1:155,867,599-155,881,140 Size: 13,542 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr1:155,870,179-155,880,552 Size: 10,374 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:155,867,599-155,881,140)mRNA (may differ from genome)Protein (219 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RIT1_HUMAN
DESCRIPTION: RecName: Full=GTP-binding protein Rit1; AltName: Full=Ras-like protein expressed in many tissues; AltName: Full=Ras-like without CAAX protein 1;
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.
ENZYME REGULATION: Alternate between an inactive form bound to GDP and an active form bound to GTP.
SUBUNIT: 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).
INTERACTION: Q13129:RLF; NbExp=3; IntAct=EBI-365845, EBI-958266;
SUBCELLULAR LOCATION: Cell membrane.
TISSUE SPECIFICITY: Expressed in many tissues.
MISCELLANEOUS: Stimulation of the NGF and EGF receptor signaling pathways results in rapid and prolonged activation.
MISCELLANEOUS: Shows rapid uncatalyzed guanine nucleotide dissociation rates, which are much faster than those of most Ras subfamily members.
SIMILARITY: Belongs to the small GTPase superfamily. Ras family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RIT1
Diseases sorted by gene-association score: noonan syndrome 8* (1229), rit1-related noonan syndrome* (500), noonan syndrome 1* (308), juvenile myelomonocytic leukemia (10)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.11 RPKM in Whole Blood
Total median expression: 364.98 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -57.20150-0.381 Picture PostScript Text
3' UTR -651.702580-0.253 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005225 - Small_GTP-bd_dom
IPR001806 - Small_GTPase
IPR020849 - Small_GTPase_Ras

Pfam Domains:
PF00025 - ADP-ribosylation factor family
PF00071 - Ras family
PF08477 - Ras of Complex, Roc, domain of DAPkinase

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q92963
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005525 GTP binding

Biological Process:
GO:0007165 signal transduction
GO:0007265 Ras protein signal transduction

Cellular Component:
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  LP895178 - Sequence 42 from Patent EP3253886.
DQ579865 - Homo sapiens piRNA piR-47977, complete sequence.
Y07566 - H.sapiens mRNA for RIT protein.
BC104186 - Homo sapiens Ras-like without CAAX 1, mRNA (cDNA clone MGC:125864 IMAGE:40030939), complete cds.
BC104187 - Homo sapiens Ras-like without CAAX 1, mRNA (cDNA clone MGC:125865 IMAGE:40030940), complete cds.
U78165 - Human small G protein RIBB mRNA, complete cds.
AK298768 - Homo sapiens cDNA FLJ52018 complete cds, highly similar to GTP-binding protein Rit1.
U71203 - Human rit mRNA, complete cds.
AF084462 - Homo sapiens GTP-binding protein ROC1 (ROC1) mRNA, complete cds.
AF493923 - Homo sapiens Ras family small GTP binding protein RIT (RIT) mRNA, complete cds.
AK314239 - Homo sapiens cDNA, FLJ94984, Homo sapiens Ras-like without CAAX 1 (RIT1), mRNA.
KJ892007 - Synthetic construct Homo sapiens clone ccsbBroadEn_01401 RIT1 gene, encodes complete protein.
CR407639 - Homo sapiens full open reading frame cDNA clone RZPDo834F082D for gene RIT1, Ras-like without CAAX 1 complete cds, without stopcodon.
JD367417 - Sequence 348441 from Patent EP1572962.
JD230935 - Sequence 211959 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q92963 (Reactome details) participates in the following event(s):

R-HSA-187697 TRKA recruits RIT and RIN
R-HSA-187698 RIT/RIN-GTP binds B-RAF
R-HSA-187746 RIT/RIN are activated
R-HSA-187706 Signalling to p38 via RIT and RIN
R-HSA-187687 Signalling to ERKs
R-HSA-187037 Signaling by NTRK1 (TRKA)
R-HSA-166520 Signaling by NTRKs
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B4DQE8, ENST00000368323.1, ENST00000368323.2, ENST00000368323.3, ENST00000368323.4, ENST00000368323.5, ENST00000368323.6, ENST00000368323.7, NM_006912, O00646, O00720, Q5VY89, Q5VY90, Q92963, RIBB, RIT, RIT1_HUMAN, ROC1, uc318grc.1, uc318grc.2
UCSC ID: ENST00000368323.8_12
RefSeq Accession: NM_006912.6
Protein: Q92963 (aka RIT1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene RIT1:
noonan (Noonan Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.