RIT1 (original) (raw)

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Protein-coding gene in the species Homo sapiens

RIT1
Available structuresPDBOrtholog search: PDBe RCSB List of PDB id codes4KLZ
Identifiers
Aliases RIT1, NS8, RIBB, RIT, ROC1, Ras like without CAAX 1
External IDs OMIM: 609591; MGI: 108053; HomoloGene: 56003; GeneCards: RIT1; OMA:RIT1 - orthologs
Gene location (Human)Chromosome 1 (human)Chr.Chromosome 1 (human)[1]Chromosome 1 (human)Genomic location for RIT1Genomic location for RIT1Band1q22Start155,897,808 bp[1]End155,911,404 bp[1]
Gene location (Mouse)Chromosome 3 (mouse)Chr.Chromosome 3 (mouse)[2]Chromosome 3 (mouse)Genomic location for RIT1Genomic location for RIT1Band3|3 F1Start88,624,145 bp[2]End88,638,356 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inmonocyteamniotic fluidAchilles tendonstromal cell of endometriumislet of Langerhansbloodventricular zonevaginapalpebral conjunctivagranulocyteTop expressed ingranulocytesacculestroma of bone marrowseminal vesiculalipectodermotic vesicleesophaguslacrimal glandotic placodeMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular function nucleotide binding protein binding calmodulin binding GTP binding GTPase activity GDP binding Cellular component membrane plasma membrane intracellular anatomical structure Biological process Ras protein signal transduction signal transduction Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez601619769EnsemblENSG00000143622ENSMUSG00000028057UniProtQ92963P70426RefSeq (mRNA)NM_006912NM_001256820NM_001256821NM_001163310NM_009069RefSeq (protein)NP_001243749NP_001243750NP_008843NP_001156782NP_033095NP_001390950NP_001390951NP_001390958NP_001390959NP_001390960NP_001390962NP_001390963NP_001390964NP_001390965Location (UCSC)Chr 1: 155.9 – 155.91 MbChr 3: 88.62 – 88.64 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

GTP-binding protein Rit1 is a protein that in humans is encoded by the RIT1 gene.[5][6][7]

RIT belongs to the RAS (HRAS; MIM 190020) subfamily of small GTPases (Hynds et al., 2003).[supplied by OMIM][7]

Clinical significance

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Mutations in RIT1 are associated to Noonan syndrome.[8]

RIT1 has been shown to interact with KLHL12[9] and Merlin.[10]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000143622 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028057 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Lee CH, Della NG, Chew CE, Zack DJ (November 1996). "Rin, a neuron-specific and calmodulin-binding small G-protein, and Rit define a novel subfamily of ras proteins". The Journal of Neuroscience. 16 (21): 6784–94. doi:10.1523/JNEUROSCI.16-21-06784.1996. PMC 6579259. PMID 8824319.
  6. ^ Wes PD, Yu M, Montell C (November 1996). "RIC, a calmodulin-binding Ras-like GTPase". The EMBO Journal. 15 (21): 5839–48. doi:10.1002/j.1460-2075.1996.tb00971.x. PMC 452332. PMID 8918462.
  7. ^ a b "Entrez Gene: RIT1 Ras-like without CAAX 1".
  8. ^ Gos M, Fahiminiya S, Poznański J, Klapecki J, Obersztyn E, Piotrowicz M, Wierzba J, Posmyk R, Bal J, Majewski J (September 2014). "Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity". American Journal of Medical Genetics. Part A. 164A (9): 2310–6. doi:10.1002/ajmg.a.36646. PMID 24939608. S2CID 2005508.
  9. ^ Rondou P, Haegeman G, Vanhoenacker P, Van Craenenbroeck K (April 2008). "BTB Protein KLHL12 targets the dopamine D4 receptor for ubiquitination by a Cul3-based E3 ligase". The Journal of Biological Chemistry. 283 (17): 11083–96. doi:10.1074/jbc.M708473200. PMC 2431063. PMID 18303015.
  10. ^ Huang J, Chen J (July 2008). "VprBP targets Merlin to the Roc1-Cul4A-DDB1 E3 ligase complex for degradation". Oncogene. 27 (29): 4056–64. doi:10.1038/onc.2008.44. PMID 18332868.