Description: Homo sapiens ras homolog family member H (RHOH), transcript variant 6, mRNA. RefSeq Summary (NM_004310): The protein encoded by this gene is a member of the Ras superfamily of guanosine triphosphate (GTP)-metabolizing enzymes. The encoded protein is expressed in hematopoietic cells, where it functions as a negative regulator of cell growth and survival. This gene may be hypermutated or misexpressed in leukemias and lymphomas. Chromosomal translocations in non-Hodgkin's lymphoma occur between this locus and B-cell CLL/lymphoma 6 (BCL6) on chromosome 3, leading to the production of fusion transcripts. Alternative splicing in the 5' untranslated region results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2013]. Transcript (Including UTRs) Position: hg19 chr4:40,198,527-40,246,281 Size: 47,755 Total Exon Count: 3 Strand: + Coding Region Position: hg19 chr4:40,245,007-40,245,582 Size: 576 Coding Exon Count: 1
ID:RHOH_HUMAN DESCRIPTION: RecName: Full=Rho-related GTP-binding protein RhoH; AltName: Full=GTP-binding protein TTF; AltName: Full=Translocation three four protein; Flags: Precursor; FUNCTION: Negative regulator of hematopoietic progenitor cell proliferation, survival and migration. Critical regulator of thymocyte development and T-cell antigen receptor (TCR) signaling by mediating recruitment and activation of ZAP70. Required for phosphorylation of CD3Z, membrane translocation of ZAP70 and subsequent activation of the ZAP70-mediated pathways. Essential for efficient beta-selection and positive selection by promoting the ZAP70-dependent phosphorylation of the LAT signalosome during pre-TCR and TCR signaling. Crucial for thymocyte maturation during DN3 to DN4 transition and during positive selection. Plays critical roles in mast cell function by facilitating phosphorylation of SYK in Fc epsilon RI-mediated signal transduction. Essential for the phosphorylation of LAT, LCP2, PLCG1 and PLCG2 and for Ca(2+) mobilization in mast cells (By similarity). Binds GTP but lacks intrinsic GTPase activity and is resistant to Rho-specific GTPase-activating proteins. Inhibits the activation of NF-kappa-B by TNF and IKKB and the activation of CRK/p38 by TNF. Inhibits activities of RAC1, RHOA and CDC42. Negatively regulates leukotriene production in neutrophils. SUBUNIT: Interacts with ZAP70 (via SH2 domains) and the interaction is enhanced by its phosphorylation by LCK. Interacts with SYK and the interaction is enhanced by its phosphorylation by FYN (By similarity). Interacts with GDI1 and GDI2. Interacts with PAK7/PAK5 (By similarity). SUBCELLULAR LOCATION: Cytoplasm. Cell membrane; Lipid-anchor; Cytoplasmic side (By similarity). Note=Co-localizes together with ZAP70 in the immunological synapse (By similarity). TISSUE SPECIFICITY: Expressed only in hematopoietic cells. Present at very high levels in the thymus, less abundant in the spleen, and least abundant in the bone marrow. Expressed at a higher level in the TH1 subtype of T-helper cells than in the TH2 subpopulation. Expressed in neutrophils under inflammatory conditions, such as cystic fibrosis, ulcerative colitis and appendicitis. INDUCTION: By CSF2/GM-CSF. Down-regulated by phorbol myristate acetate (PMA). DOMAIN: The region involved in interaction with ZAP70 is a non- canonical immunoreceptor tyrosine-based activation motif (ITAM) (By similarity). PTM: Phosphorylated on tyrosine by LCK. Phosphorylated by FYN. Phosphorylation enhances the interactions with ZAP70 and SYK and is critical for its function in thymocyte development (By similarity). DISEASE: Note=A chromosomal aberration involving RHOH is found in a non-Hodgkin lymphoma cell line. Translocation t(3;4)(q27;p11) with BCL6. SIMILARITY: Belongs to the small GTPase superfamily. Rho family. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RHOH93.html";
Graves Disease Xun Chu et al. Nature genetics 2011, A genome-wide association study identifies two new risk loci for Graves' disease., Nature genetics.
[PubMed 21841780]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q15669
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006355 regulation of transcription, DNA-templated GO:0007264 small GTPase mediated signal transduction GO:0030217 T cell differentiation GO:0034260 negative regulation of GTPase activity GO:0042326 negative regulation of phosphorylation GO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling GO:0045576 mast cell activation GO:0051056 regulation of small GTPase mediated signal transduction
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