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UniProtKB - Q92963 (RIT1_HUMAN)

Entry version 175 (22 Apr 2020)
Sequence version 1 (01 Feb 1997)
Previous versions | rss
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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 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

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

More...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
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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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

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

More...OpenTargetsi		ENSG00000143622

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

More...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

More...BioMutai		RIT1

Domain mapping of disease mutations (DMDM)

More...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

More...MassIVEi		Q92963

MaxQB - The MaxQuant DataBase

More...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

More...PRIDEi		Q92963

ProteomicsDB: a multi-organism proteome resource

More...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 ectocervix and 213 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q92963 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...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%27">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

Show more details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		111948, 15 interactors

Protein interaction database and analysis system

More...IntActi		Q92963, 17 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000357305

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...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

More...SMRi		Q92963

Database of comparative protein structure models

More...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

More...eggNOGi		KOG0395 Eukaryota
COG1100 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160132

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_041217_9_5_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q92963

KEGG Orthology (KO)

More...KOi		K07832

Identification of Orthologs from Complete Genome Data

More...OMAi		YKTQIRI

Database of Orthologous Groups

More...OrthoDBi		1259506at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q92963

TreeFam database of animal gene trees

More...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

More...PANTHERi		PTHR24070 PTHR24070, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00071 Ras, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540 SSF52540, 1 hit

TIGRFAMs; a protein family database

More...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 mutation 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 mutation found in patients with features of Noonan syndrome. 1 PublicationCorresponds to variant dbSNP:rs869025194EnsemblClinVar.1
Natural variantiVAR_07015483T → P Probable disease-associated mutation found in patients with features of Noonan syndrome. Corresponds to variant dbSNP:rs869025195EnsemblClinVar.1
Natural variantiVAR_07015589Y → H Probable disease-associated mutation 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

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

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

NCBI Reference Sequences

More...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

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

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6016

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6016

UCSC genome browser

More...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

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

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

Protein-protein interaction databases

BioGridi111948, 15 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

More...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

More...CTDi		6016
DisGeNETi6016

GeneCards: human genes, protein and diseases

More...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

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0395 Eukaryota
COG1100 LUCA
GeneTreeiENSGT00940000160132
HOGENOMiCLU_041217_9_5_1
InParanoidiQ92963
KOiK07832
OMAiYKTQIRI
OrthoDBi1259506at2759
PhylomeDBiQ92963
TreeFamiTF315072

Enzyme and pathway databases

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

Miscellaneous databases

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

More...ChiTaRSi		RIT1 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		RIT1

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

More...GenomeRNAii		6016
PharosiQ92963 Tbio

Protein Ontology

More...PROi		PR:Q92963
RNActiQ92963 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000143622 Expressed in ectocervix and 213 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

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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: April 22, 2020
This is version 175 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 chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
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