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    RIT1 Ras like without CAAX 1 [ Homo sapiens (human) ]

    Gene ID: 6016, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RIT1provided by HGNC
    Official Full Name
    Ras like without CAAX 1provided by HGNC
    Primary source
    HGNC:HGNC:10023
    See related
    Ensembl:ENSG00000143622 MIM:609591; AllianceGenome:HGNC:10023
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NS8; RIT; RIBB; ROC1
    Summary
    This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
    Expression
    Ubiquitous expression in bone marrow (RPKM 8.9), esophagus (RPKM 4.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RIT1 in Genome Data Viewer
    Location:
    1q22
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155897808..155911349, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (155035925..155049482, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155867599..155881140, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1822 Neighboring gene synaptotagmin 11 Neighboring gene uncharacterized LOC124904686 Neighboring gene KH domain containing 4, pre-mRNA splicing factor Neighboring gene small nucleolar RNA, H/ACA box 80E Neighboring gene small Cajal body-specific RNA 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Novel recurrent mutations in the RAS-like GTP-binding gene RIT1 in myeloid malignancies. Gómez-Seguí I, et al. Leukemia, 2013 Sep. PMID 23765226, Free PMC Article
    2. Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity. Gos M, et al. Am J Med Genet A, 2014 Sep. PMID 24939608
    3. Further evidence of the importance of RIT1 in Noonan syndrome. Bertola DR, et al. Am J Med Genet A, 2014 Nov. PMID 25124994
    4. Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. Koenighofer M, et al. Clin Genet, 2016 Mar. PMID 25959749, Free PMC Article
    5. A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature. Nemcikova M, et al. Eur J Pediatr, 2016 Apr. PMID 26518681

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RIT1 regulates mitosis and promotes proliferation by interacting with SMC3 and PDS5 in hepatocellular carcinoma.
      Title: RIT1 regulates mitosis and promotes proliferation by interacting with SMC3 and PDS5 in hepatocellular carcinoma.
    2. Cardiac features of Noonan syndrome in Japanese patients.
      Title: Cardiac features of Noonan syndrome in Japanese patients.
    3. RIT1 Promotes Glioma Proliferation and Invasion via the AKT/ERK/NF-kB Signaling Pathway.
      Title: RIT1 Promotes Glioma Proliferation and Invasion via the AKT/ERK/NF-ĸB Signaling Pathway.
    4. Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.
      Title: Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.
    5. Multiomic characterization of oncogenic signaling mediated by wild-type and mutant RIT1.
      Title: Multiomic characterization of oncogenic signaling mediated by wild-type and mutant RIT1.
    6. Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer.
      Title: Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer.
    7. The potential oncogenic role of the RAS-like GTP-binding gene RIT1 in glioblastoma.
      Title: The potential oncogenic role of the RAS-like GTP-binding gene RIT1 in glioblastoma.
    8. The RIT1 C-terminus associates with lipid bilayers via charge complementarity.
      Title: The RIT1 C-terminus associates with lipid bilayers via charge complementarity.
    9. The molecular functions of RIT1 and its contribution to human disease.
      Title: The molecular functions of RIT1 and its contribution to human disease.
    10. Mek inhibitor reverses hypertrophic cardiomyopathy in RIT1 mutated Noonan syndrome.
      Title: Mek Inhibitor Reverses Hypertrophic Cardiomyopathy in RIT1 Mutated Noonan Syndrome: For the first time, hypertrophic cardiomyopathy was reversed in Noonan syndrome associated with a RIT1 mutation.
    Submit: New GeneRIF Correction See all GeneRIFs (36)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Noonan syndrome 8
    MedGen: C3809233 OMIM: 615355 GeneReviews: Noonan Syndrome
    		Compare labs

    EBI GWAS Catalog

    Description
    Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr The interaction of Vpr with DDB1 facilitates the formation of complexes containing Cul4A-Roc1 E3 ubiquitin ligase. The association of Vpr with DDB1-containing E3 ligase mediates the degradation of UNG2 and SMUG1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC125864, MGC125865

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GDP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calmodulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Ras protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Ras protein signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    GTP-binding protein Rit1
    Names
    GTP-binding protein Roc1
    Ric-like, expressed in many tissues
    ras-like protein expressed in many tissues
    ras-like without CAAX protein 1
    NP_001243749.1
    NP_001243750.1
    NP_008843.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033885.1 RefSeqGene

      Range
      5054..18595
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1372

    mRNA and Protein(s)

    1. NM_001256820.2 → NP_001243749.1  GTP-binding protein Rit1 isoform 3

      See identical proteins and their annotated locations for NP_001243749.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences. These difference cause translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK298768, AL139128, BU674989
      Consensus CDS
      CCDS58036.1
      UniProtKB/Swiss-Prot
      Q92963
      Related
      ENSP00000441950.1, ENST00000539040.6
      Conserved Domains (1) summary
      cl38936
      Location:1 → 155
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. NM_001256821.2 → NP_001243750.1  GTP-binding protein Rit1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL139128, AL355388, BI916790, BQ918446, BU674989
      Consensus CDS
      CCDS58037.1
      UniProtKB/Swiss-Prot
      Q92963
      Related
      ENSP00000357305.3, ENST00000368322.7
      Conserved Domains (2) summary
      smart00010
      Location:37 → 202
      small_GTPase; Small GTPase of the Ras superfamily; ill-defined subfamily
      cd04141
      Location:37 → 208
      Rit_Rin_Ric; Ras-like protein in all tissues (Rit), Ras-like protein in neurons (Rin) and Ras-related protein which interacts with calmodulin (Ric)

    3. NM_006912.6 → NP_008843.1  GTP-binding protein Rit1 isoform 2

      See identical proteins and their annotated locations for NP_008843.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences. These difference cause translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 2.
      Source sequence(s)
      AK298768, AL139128, AL355388, BC104186, BU674989
      Consensus CDS
      CCDS1123.1
      UniProtKB/Swiss-Prot
      B4DQE8, O00646, O00720, Q5VY89, Q5VY90, Q92963
      Related
      ENSP00000357306.3, ENST00000368323.8
      Conserved Domains (1) summary
      cd04141
      Location:20 → 191
      Rit_Rin_Ric; Ras-like protein in all tissues (Rit), Ras-like protein in neurons (Rin) and Ras-related protein which interacts with calmodulin (Ric)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      155897808..155911349 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      155035925..155049482 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92963.1 GenPept UniProtKB/Swiss-Prot:Q92963

    Gene LinkOut

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