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

Gene ID: 6016, updated on 2-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
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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 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
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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)

Genotypes

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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