UniProtKB - Q92963 (RIT1_HUMAN)
GTP-binding protein Rit1
RIT1
Functioni
Miscellaneous
Catalytic activityi
- EC:3.6.5.21 Publication
Activity regulationi
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 28 – 35 | GTPBy similarity | 8 | |
Nucleotide bindingi | 75 – 79 | GTPBy similarity | 5 | |
Nucleotide bindingi | 134 – 137 | GTPBy similarity | 4 |
GO - Molecular functioni
- calmodulin binding Source: GO_Central
- GDP binding Source: GO_Central
- GTPase activity Source: ParkinsonsUK-UCL
- GTP binding Source: ParkinsonsUK-UCL
GO - Biological processi
- Ras protein signal transduction Source: UniProtKB
- signal transduction Source: ProtInc
Keywordsi
Molecular function | Hydrolase |
Ligand | GTP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q92963 |
Reactomei | R-HSA-187706, Signalling to p38 via RIT and RIN |
SIGNORi | Q92963 |
Names & Taxonomyi
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 |
Gene namesi | Name:RIT1 Synonyms:RIBB, RIT, ROC1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000143622.10 |
HGNCi | HGNC:10023, RIT1 |
MIMi | 609591, gene |
neXtProti | NX_Q92963 |
Subcellular locationi
Plasma membrane
Plasma Membrane
- plasma membrane Source: GO_Central
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Noonan syndrome 8 (NS8)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070150 | 57 | A → G in NS8; results in increased ELK1 transcriptional activation; results in increased MAPK-ERK signaling. 2 PublicationsCorresponds to variant dbSNP:rs672601334EnsemblClinVar. | 1 | |
Natural variantiVAR_070151 | 81 | E → G in NS8; results in increased ELK1 transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs869025193EnsemblClinVar. | 1 | |
Natural variantiVAR_070152 | 82 | F → L in NS8; results in increased ELK1 transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs730881014EnsemblClinVar. | 1 | |
Natural variantiVAR_070156 | 90 | M → I in NS8; results in increased MAPK-ERK signaling. 2 PublicationsCorresponds to variant dbSNP:rs483352822EnsemblClinVar. | 1 | |
Natural variantiVAR_070157 | 95 | G → A in NS8; results in increased ELK1 transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs672601335EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 35 | S → N: Dominant negative. Loss of interaction with AFDN, RLF and RALGDS. 1 Publication | 1 | |
Mutagenesisi | 53 | T → S: Loss of interaction with AFDN, RLF and RALGDS; when associated with L-79. 1 Publication | 1 | |
Mutagenesisi | 55 | E → G: Loss of interaction with AFDN, but not with RLF and RALGDS; when associated with L-79. 1 Publication | 1 | |
Mutagenesisi | 79 | Q → 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 Publication | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 6016 |
GeneReviewsi | RIT1 |
MalaCardsi | RIT1 |
MIMi | 615355, phenotype |
OpenTargetsi | ENSG00000143622 |
Orphaneti | 648, Noonan syndrome |
PharmGKBi | PA35528 |
Miscellaneous databases
Pharosi | Q92963, Tbio |
Polymorphism and mutation databases
BioMutai | RIT1 |
DMDMi | 38258628 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000082725 | 1 – 219 | GTP-binding protein Rit1Add BLAST | 219 |
Proteomic databases
EPDi | Q92963 |
jPOSTi | Q92963 |
MassIVEi | Q92963 |
MaxQBi | Q92963 |
PaxDbi | Q92963 |
PeptideAtlasi | Q92963 |
PRIDEi | Q92963 |
ProteomicsDBi | 4865 75632 [Q92963-1] |
PTM databases
iPTMneti | Q92963 |
PhosphoSitePlusi | Q92963 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000143622, Expressed in bone marrow and 223 other tissues |
ExpressionAtlasi | Q92963, baseline and differential |
Genevisiblei | Q92963, HS |
Organism-specific databases
HPAi | ENSG00000143622, Low tissue specificity |
Interactioni
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 similarityBinary interactionsi
Hide detailsGO - Molecular functioni
- calmodulin binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 111948, 16 interactors |
IntActi | Q92963, 17 interactors |
STRINGi | 9606.ENSP00000357305 |
Miscellaneous databases
RNActi | Q92963, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q92963 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG0395, Eukaryota |
GeneTreei | ENSGT00940000160132 |
HOGENOMi | CLU_041217_9_5_1 |
InParanoidi | Q92963 |
OMAi | YKTQIRI |
OrthoDBi | 1259506at2759 |
PhylomeDBi | Q92963 |
TreeFami | TF315072 |
Family and domain databases
InterProi | View protein in InterPro IPR027417, P-loop_NTPase IPR005225, Small_GTP-bd_dom IPR001806, Small_GTPase IPR020849, Small_GTPase_Ras-type |
PANTHERi | PTHR24070, PTHR24070, 1 hit |
Pfami | View protein in Pfam PF00071, Ras, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
TIGRFAMsi | TIGR00231, small_GTP, 1 hit |
PROSITEi | View protein in PROSITE PS51421, RAS, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A494C0S1 | A0A494C0S1_HUMAN | GTP-binding protein Rit1 | RIT1 | 220 | Annotation score: | ||
V9GYC3 | V9GYC3_HUMAN | GTP-binding protein Rit1 | RIT1 | 151 | Annotation score: | ||
V9GY29 | V9GY29_HUMAN | GTP-binding protein Rit1 | RIT1 | 92 | Annotation score: | ||
A0A494C0U3 | A0A494C0U3_HUMAN | GTP-binding protein Rit1 | RIT1 | 122 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070149 | 35 | S → T Probable disease-associated variant found in patients with features of Noonan syndrome. 1 PublicationCorresponds to variant dbSNP:rs869025189EnsemblClinVar. | 1 | |
Natural variantiVAR_070150 | 57 | A → G in NS8; results in increased ELK1 transcriptional activation; results in increased MAPK-ERK signaling. 2 PublicationsCorresponds to variant dbSNP:rs672601334EnsemblClinVar. | 1 | |
Natural variantiVAR_070151 | 81 | E → G in NS8; results in increased ELK1 transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs869025193EnsemblClinVar. | 1 | |
Natural variantiVAR_070152 | 82 | F → L in NS8; results in increased ELK1 transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs730881014EnsemblClinVar. | 1 | |
Natural variantiVAR_070153 | 82 | F → V Probable disease-associated variant found in patients with features of Noonan syndrome. 1 PublicationCorresponds to variant dbSNP:rs869025194EnsemblClinVar. | 1 | |
Natural variantiVAR_070154 | 83 | T → P Probable disease-associated variant found in patients with features of Noonan syndrome. Corresponds to variant dbSNP:rs869025195EnsemblClinVar. | 1 | |
Natural variantiVAR_070155 | 89 | Y → H Probable disease-associated variant found in patients with features of Noonan syndrome. 1 PublicationCorresponds to variant dbSNP:rs869025197EnsemblClinVar. | 1 | |
Natural variantiVAR_070156 | 90 | M → I in NS8; results in increased MAPK-ERK signaling. 2 PublicationsCorresponds to variant dbSNP:rs483352822EnsemblClinVar. | 1 | |
Natural variantiVAR_070157 | 95 | G → A in NS8; results in increased ELK1 transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs672601335EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_045306 | 1 – 36 | Missing in isoform 2. 1 PublicationAdd BLAST | 36 | |
Alternative sequenceiVSP_047114 | 1 | M → MERWLFLGATEEGPKRTM in isoform 3. Curated | 1 |
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 |
CCDSi | CCDS1123.1 [Q92963-1] CCDS58036.1 [Q92963-2] CCDS58037.1 [Q92963-3] |
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
Ensembli | ENST00000368322; ENSP00000357305; ENSG00000143622 [Q92963-3] ENST00000368323; ENSP00000357306; ENSG00000143622 [Q92963-1] ENST00000539040; ENSP00000441950; ENSG00000143622 [Q92963-2] |
GeneIDi | 6016 |
KEGGi | hsa:6016 |
UCSCi | uc001fmh.3, human [Q92963-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS1123.1 [Q92963-1] CCDS58036.1 [Q92963-2] CCDS58037.1 [Q92963-3] |
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] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4KLZ | X-ray | 2.30 | A | 19-189 | [»] | |
SMRi | Q92963 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 111948, 16 interactors |
IntActi | Q92963, 17 interactors |
STRINGi | 9606.ENSP00000357305 |
PTM databases
iPTMneti | Q92963 |
PhosphoSitePlusi | Q92963 |
Polymorphism and mutation databases
BioMutai | RIT1 |
DMDMi | 38258628 |
Proteomic databases
EPDi | Q92963 |
jPOSTi | Q92963 |
MassIVEi | Q92963 |
MaxQBi | Q92963 |
PaxDbi | Q92963 |
PeptideAtlasi | Q92963 |
PRIDEi | Q92963 |
ProteomicsDBi | 4865 75632 [Q92963-1] |
Protocols and materials databases
Antibodypediai | 20423, 236 antibodies |
Genome annotation databases
Ensembli | ENST00000368322; ENSP00000357305; ENSG00000143622 [Q92963-3] ENST00000368323; ENSP00000357306; ENSG00000143622 [Q92963-1] ENST00000539040; ENSP00000441950; ENSG00000143622 [Q92963-2] |
GeneIDi | 6016 |
KEGGi | hsa:6016 |
UCSCi | uc001fmh.3, human [Q92963-1] |
Organism-specific databases
CTDi | 6016 |
DisGeNETi | 6016 |
EuPathDBi | HostDB:ENSG00000143622.10 |
GeneCardsi | RIT1 |
GeneReviewsi | RIT1 |
HGNCi | HGNC:10023, RIT1 |
HPAi | ENSG00000143622, Low tissue specificity |
MalaCardsi | RIT1 |
MIMi | 609591, gene 615355, phenotype |
neXtProti | NX_Q92963 |
OpenTargetsi | ENSG00000143622 |
Orphaneti | 648, Noonan syndrome |
PharmGKBi | PA35528 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0395, Eukaryota |
GeneTreei | ENSGT00940000160132 |
HOGENOMi | CLU_041217_9_5_1 |
InParanoidi | Q92963 |
OMAi | YKTQIRI |
OrthoDBi | 1259506at2759 |
PhylomeDBi | Q92963 |
TreeFami | TF315072 |
Enzyme and pathway databases
PathwayCommonsi | Q92963 |
Reactomei | R-HSA-187706, Signalling to p38 via RIT and RIN |
SIGNORi | Q92963 |
Miscellaneous databases
BioGRID-ORCSi | 6016, 15 hits in 845 CRISPR screens |
ChiTaRSi | RIT1, human |
GeneWikii | RIT1 |
GenomeRNAii | 6016 |
Pharosi | Q92963, Tbio |
PROi | PR:Q92963 |
RNActi | Q92963, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000143622, Expressed in bone marrow and 223 other tissues |
ExpressionAtlasi | Q92963, baseline and differential |
Genevisiblei | Q92963, HS |
Family and domain databases
InterProi | View protein in InterPro IPR027417, P-loop_NTPase IPR005225, Small_GTP-bd_dom IPR001806, Small_GTPase IPR020849, Small_GTPase_Ras-type |
PANTHERi | PTHR24070, PTHR24070, 1 hit |
Pfami | View protein in Pfam PF00071, Ras, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
TIGRFAMsi | TIGR00231, small_GTP, 1 hit |
PROSITEi | View protein in PROSITE PS51421, RAS, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RIT1_HUMAN | |
Accessioni | Q92963Primary (citable) accession number: Q92963 Secondary accession number(s): B4DQE8 Q5VY90 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 31, 2003 |
Last sequence update: | February 1, 1997 | |
Last modified: | December 2, 2020 | |
This is version 179 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations