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Entry version 178 (07 Oct 2020)
Sequence version 1 (01 Feb 1997)
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Protein

GTP-binding protein Rit1

Gene

RIT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.2 Publications

Miscellaneous

Stimulation of the NGF and EGF receptor signaling pathways results in rapid and prolonged activation.
Shows rapid uncatalyzed guanine nucleotide dissociation rates, which are much faster than those of most Ras subfamily members.

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Alternates between an inactive form bound to GDP and an active form bound to GTP.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi28 – 35GTPBy similarity8
Nucleotide bindingi75 – 79GTPBy similarity5
Nucleotide bindingi134 – 137GTPBy similarity4

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q92963

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-187706, Signalling to p38 via RIT and RIN

SIGNOR Signaling Network Open Resource

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SIGNORi
Q92963

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
GTP-binding protein Rit1 (EC:3.6.5.21 Publication)
Alternative name(s):
Ras-like protein expressed in many tissues
Ras-like without CAAX protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RIT1
Synonyms:RIBB, RIT, ROC1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000143622.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10023, RIT1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609591, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q92963

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Noonan syndrome 8 (NS8)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07015057A → G in NS8; results in increased ELK1 transcriptional activation; results in increased MAPK-ERK signaling. 2 PublicationsCorresponds to variant dbSNP:rs672601334EnsemblClinVar.1
Natural variantiVAR_07015181E → G in NS8; results in increased ELK1 transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs869025193EnsemblClinVar.1
Natural variantiVAR_07015282F → L in NS8; results in increased ELK1 transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs730881014EnsemblClinVar.1
Natural variantiVAR_07015690M → I in NS8; results in increased MAPK-ERK signaling. 2 PublicationsCorresponds to variant dbSNP:rs483352822EnsemblClinVar.1
Natural variantiVAR_07015795G → A in NS8; results in increased ELK1 transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs672601335EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi35S → N: Dominant negative. Loss of interaction with AFDN, RLF and RALGDS. 1 Publication1
Mutagenesisi53T → S: Loss of interaction with AFDN, RLF and RALGDS; when associated with L-79. 1 Publication1
Mutagenesisi55E → G: Loss of interaction with AFDN, but not with RLF and RALGDS; when associated with L-79. 1 Publication1
Mutagenesisi79Q → L: Constitutively active. Dramatic reduction of the rate of GTP hydrolysis. Loss of interaction with AFDN, RLF and RALGDS; when associated with S-53. Loss of interaction with AFDN; when associated with G-55. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
6016

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
RIT1

MalaCards human disease database

More...
MalaCardsi
RIT1
MIMi615355, phenotype

Open Targets

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OpenTargetsi
ENSG00000143622

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
648, Noonan syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35528

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q92963, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
RIT1

Domain mapping of disease mutations (DMDM)

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DMDMi
38258628

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000827251 – 219GTP-binding protein Rit1Add BLAST219

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q92963

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q92963

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q92963

MaxQB - The MaxQuant DataBase

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MaxQBi
Q92963

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q92963

PeptideAtlas

More...
PeptideAtlasi
Q92963

PRoteomics IDEntifications database

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PRIDEi
Q92963

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
4865
75632 [Q92963-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q92963

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q92963

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in many tissues.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000143622, Expressed in bone marrow and 223 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q92963, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q92963, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000143622, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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).

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
111948, 16 interactors

Protein interaction database and analysis system

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IntActi
Q92963, 17 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000357305

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q92963, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1219
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q92963

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the small GTPase superfamily. Ras family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0395, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000160132

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_041217_9_5_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q92963

KEGG Orthology (KO)

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KOi
K07832

Identification of Orthologs from Complete Genome Data

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OMAi
YKTQIRI

Database of Orthologous Groups

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OrthoDBi
1259506at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q92963

TreeFam database of animal gene trees

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TreeFami
TF315072

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR027417, P-loop_NTPase
IPR005225, Small_GTP-bd_dom
IPR001806, Small_GTPase
IPR020849, Small_GTPase_Ras-type

The PANTHER Classification System

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PANTHERi
PTHR24070, PTHR24070, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00071, Ras, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52540, SSF52540, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR00231, small_GTP, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51421, RAS, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q92963-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MDSGTRPVGS CCSSPAGLSR EYKLVMLGAG GVGKSAMTMQ FISHRFPEDH
60 70 80 90 100
DPTIEDAYKI RIRIDDEPAN LDILDTAGQA EFTAMRDQYM RAGEGFIICY
110 120 130 140 150
SITDRRSFHE VREFKQLIYR VRRTDDTPVV LVGNKSDLKQ LRQVTKEEGL
160 170 180 190 200
ALAREFSCPF FETSAAYRYY IDDVFHALVR EIRRKEKEAV LAMEKKSKPK
210
NSVWKRLKSP FRKKKDSVT
Length:219
Mass (Da):25,145
Last modified:February 1, 1997 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7F957871F836AE92
GO
Isoform 2 (identifier: Q92963-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-36: Missing.

Show »
Length:183
Mass (Da):21,633
Checksum:i61CFC2E07B180267
GO
Isoform 3 (identifier: Q92963-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MERWLFLGATEEGPKRTM

Show »
Length:236
Mass (Da):27,148
Checksum:iB6B991C6D3668388
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A494C0S1A0A494C0S1_HUMAN
GTP-binding protein Rit1
RIT1
220Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
V9GYC3V9GYC3_HUMAN
GTP-binding protein Rit1
RIT1
151Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
V9GY29V9GY29_HUMAN
GTP-binding protein Rit1
RIT1
92Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C0U3A0A494C0U3_HUMAN
GTP-binding protein Rit1
RIT1
122Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07014935S → T Probable disease-associated variant found in patients with features of Noonan syndrome. 1 PublicationCorresponds to variant dbSNP:rs869025189EnsemblClinVar.1
Natural variantiVAR_07015057A → G in NS8; results in increased ELK1 transcriptional activation; results in increased MAPK-ERK signaling. 2 PublicationsCorresponds to variant dbSNP:rs672601334EnsemblClinVar.1
Natural variantiVAR_07015181E → G in NS8; results in increased ELK1 transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs869025193EnsemblClinVar.1
Natural variantiVAR_07015282F → L in NS8; results in increased ELK1 transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs730881014EnsemblClinVar.1
Natural variantiVAR_07015382F → V Probable disease-associated variant found in patients with features of Noonan syndrome. 1 PublicationCorresponds to variant dbSNP:rs869025194EnsemblClinVar.1
Natural variantiVAR_07015483T → P Probable disease-associated variant found in patients with features of Noonan syndrome. Corresponds to variant dbSNP:rs869025195EnsemblClinVar.1
Natural variantiVAR_07015589Y → H Probable disease-associated variant found in patients with features of Noonan syndrome. 1 PublicationCorresponds to variant dbSNP:rs869025197EnsemblClinVar.1
Natural variantiVAR_07015690M → I in NS8; results in increased MAPK-ERK signaling. 2 PublicationsCorresponds to variant dbSNP:rs483352822EnsemblClinVar.1
Natural variantiVAR_07015795G → A in NS8; results in increased ELK1 transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs672601335EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0453061 – 36Missing in isoform 2. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_0471141M → MERWLFLGATEEGPKRTM in isoform 3. Curated1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U71203 mRNA Translation: AAB42213.1
Y07566 mRNA Translation: CAA68851.1
U78165 mRNA Translation: AAB64246.1
AF084462 mRNA Translation: AAD13021.1
AF493923 mRNA Translation: AAM12637.1
AK298768 mRNA Translation: BAG60910.1
AK314239 mRNA Translation: BAG36908.1
CR407639 mRNA Translation: CAG28567.1
AL139128 Genomic DNA No translation available.
AL355388 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW53024.1
BC104186 mRNA Translation: AAI04187.1
BC104187 mRNA Translation: AAI04188.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS1123.1 [Q92963-1]
CCDS58036.1 [Q92963-2]
CCDS58037.1 [Q92963-3]

NCBI Reference Sequences

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RefSeqi
NP_001243749.1, NM_001256820.1 [Q92963-2]
NP_001243750.1, NM_001256821.1 [Q92963-3]
NP_008843.1, NM_006912.5 [Q92963-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000368322; ENSP00000357305; ENSG00000143622 [Q92963-3]
ENST00000368323; ENSP00000357306; ENSG00000143622 [Q92963-1]
ENST00000539040; ENSP00000441950; ENSG00000143622 [Q92963-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
6016

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6016

UCSC genome browser

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UCSCi
uc001fmh.3, human [Q92963-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U71203 mRNA Translation: AAB42213.1
Y07566 mRNA Translation: CAA68851.1
U78165 mRNA Translation: AAB64246.1
AF084462 mRNA Translation: AAD13021.1
AF493923 mRNA Translation: AAM12637.1
AK298768 mRNA Translation: BAG60910.1
AK314239 mRNA Translation: BAG36908.1
CR407639 mRNA Translation: CAG28567.1
AL139128 Genomic DNA No translation available.
AL355388 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW53024.1
BC104186 mRNA Translation: AAI04187.1
BC104187 mRNA Translation: AAI04188.1
CCDSiCCDS1123.1 [Q92963-1]
CCDS58036.1 [Q92963-2]
CCDS58037.1 [Q92963-3]
RefSeqiNP_001243749.1, NM_001256820.1 [Q92963-2]
NP_001243750.1, NM_001256821.1 [Q92963-3]
NP_008843.1, NM_006912.5 [Q92963-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4KLZX-ray2.30A19-189[»]
SMRiQ92963
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi111948, 16 interactors
IntActiQ92963, 17 interactors
STRINGi9606.ENSP00000357305

PTM databases

iPTMnetiQ92963
PhosphoSitePlusiQ92963

Polymorphism and mutation databases

BioMutaiRIT1
DMDMi38258628

Proteomic databases

EPDiQ92963
jPOSTiQ92963
MassIVEiQ92963
MaxQBiQ92963
PaxDbiQ92963
PeptideAtlasiQ92963
PRIDEiQ92963
ProteomicsDBi4865
75632 [Q92963-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
20423, 236 antibodies

Genome annotation databases

EnsembliENST00000368322; ENSP00000357305; ENSG00000143622 [Q92963-3]
ENST00000368323; ENSP00000357306; ENSG00000143622 [Q92963-1]
ENST00000539040; ENSP00000441950; ENSG00000143622 [Q92963-2]
GeneIDi6016
KEGGihsa:6016
UCSCiuc001fmh.3, human [Q92963-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
6016
DisGeNETi6016
EuPathDBiHostDB:ENSG00000143622.10

GeneCards: human genes, protein and diseases

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GeneCardsi
RIT1
GeneReviewsiRIT1
HGNCiHGNC:10023, RIT1
HPAiENSG00000143622, Low tissue specificity
MalaCardsiRIT1
MIMi609591, gene
615355, phenotype
neXtProtiNX_Q92963
OpenTargetsiENSG00000143622
Orphaneti648, Noonan syndrome
PharmGKBiPA35528

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0395, Eukaryota
GeneTreeiENSGT00940000160132
HOGENOMiCLU_041217_9_5_1
InParanoidiQ92963
KOiK07832
OMAiYKTQIRI
OrthoDBi1259506at2759
PhylomeDBiQ92963
TreeFamiTF315072

Enzyme and pathway databases

PathwayCommonsiQ92963
ReactomeiR-HSA-187706, Signalling to p38 via RIT and RIN
SIGNORiQ92963

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
6016, 15 hits in 873 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
RIT1, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
RIT1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
6016
PharosiQ92963, Tbio

Protein Ontology

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PROi
PR:Q92963
RNActiQ92963, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000143622, Expressed in bone marrow and 223 other tissues
ExpressionAtlasiQ92963, baseline and differential
GenevisibleiQ92963, HS

Family and domain databases

InterProiView protein in InterPro
IPR027417, P-loop_NTPase
IPR005225, Small_GTP-bd_dom
IPR001806, Small_GTPase
IPR020849, Small_GTPase_Ras-type
PANTHERiPTHR24070, PTHR24070, 1 hit
PfamiView protein in Pfam
PF00071, Ras, 1 hit
SUPFAMiSSF52540, SSF52540, 1 hit
TIGRFAMsiTIGR00231, small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS51421, RAS, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRIT1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q92963
Secondary accession number(s): B4DQE8
, O00646, O00720, Q5VY89, Q5VY90
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2003
Last sequence update: February 1, 1997
Last modified: October 7, 2020
This is version 178 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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