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Aliases for RHOH Gene

Aliases for RHOH Gene

  • Ras Homolog Family Member H 2 3 5
  • Ras Homolog Gene Family, Member H 2 3
  • GTP-Binding Protein TTF 3 4
  • ARHH 3 4
  • TTF 3 4
  • Rho-Related GTP-Binding Protein RhoH 3
  • Translocation Three Four Protein 4
  • TTF, Translocation Three Four 3

External Ids for RHOH Gene

Previous HGNC Symbols for RHOH Gene

  • ARHH

Previous GeneCards Identifiers for RHOH Gene

  • GC04P040096
  • GC04P040021
  • GC04P039875
  • GC04P040198
  • GC04P039521

Summaries for RHOH Gene

Entrez Gene Summary for RHOH Gene

  • 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]

GeneCards Summary for RHOH Gene

RHOH (Ras Homolog Family Member H) is a Protein Coding gene. Diseases associated with RHOH include T-Cell Immunodeficiency With Epidermodysplasia Verruciformis and Hodgkin Lymphoma. Among its related pathways are GPCR Pathway and Phospholipase-C Pathway. GO annotations related to this gene include GTP binding and GTPase inhibitor activity. An important paralog of this gene is CDC42.

UniProtKB/Swiss-Prot for RHOH Gene

  • 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.

Gene Wiki entry for RHOH Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RHOH Gene

Genomics for RHOH Gene

Regulatory Elements for RHOH Gene

Enhancers for RHOH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G040237 2 FANTOM5 Ensembl ENCODE dbSUPER 15.7 +48.0 47986 3.1 HDGF PKNOX1 ARNT ZNF766 FOS KLF13 SP3 REST ZNF592 MEF2D RHOH LOC344967 N4BP2 CHRNA9 ZBTB12BP RBM47 GC04P040235 GC04P040236 GC04P040242 GC04P040243
GH04G040241 1.6 FANTOM5 Ensembl ENCODE dbSUPER 17.5 +53.9 53943 7.8 HDAC1 CTCF PKNOX1 TAL1 CEBPG RAD21 ZNF766 POLR2A NFE2 ZNF639 RHOH CHRNA9 RNU7-74P ZBTB12BP RBM47 PDS5A GC04P040242 GC04P040243 ENSG00000250338
GH04G040298 2 FANTOM5 Ensembl ENCODE dbSUPER 12 +114.6 114599 15.1 HDGF PKNOX1 WRNIP1 YBX1 ZNF2 ZNF766 ZNF143 ZNF207 JUNB REST N4BP2 RHOH CHRNA9 LOC344967 RBM47 PDS5A LINC02265 ENSG00000250338
GH04G040189 2 FANTOM5 Ensembl ENCODE dbSUPER 9.7 +9.1 9128 22.0 HDGF FOXA2 PKNOX1 CREB3L1 ARNT WRNIP1 SIN3A YY1 ZNF766 ZNF143 N4BP2 RBM47 LOC344967 ENSG00000250568 CHRNA9 RHOH UGDH-AS1 ARL4AP2 GC04P040193 GC04P040194
GH04G040224 1.1 ENCODE dbSUPER 11.7 +36.2 36185 4.6 HDGF TBP TBL1XR1 WRNIP1 RAD21 TCF12 CBX5 ZNF143 RELB ETV6 RHOH GC04P040235 GC04P040236 GC04P040193 GC04P040194
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RHOH on UCSC Golden Path with GeneCards custom track

Genomic Location for RHOH Gene

Chromosome:
4
Start:
40,191,011 bp from pter
End:
40,246,967 bp from pter
Size:
55,957 bases
Orientation:
Plus strand

Genomic View for RHOH Gene

Genes around RHOH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RHOH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RHOH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHOH Gene

Proteins for RHOH Gene

  • Protein details for RHOH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15669-RHOH_HUMAN
    Recommended name:
    Rho-related GTP-binding protein RhoH
    Protein Accession:
    Q15669

    Protein attributes for RHOH Gene

    Size:
    191 amino acids
    Molecular mass:
    21331 Da
    Quaternary structure:
    • 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 PAK5 (By similarity).

neXtProt entry for RHOH Gene

Post-translational modifications for RHOH Gene

  • 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).
  • Ubiquitination at isoforms=6, Lys17, isoforms=138, and isoforms=146
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RHOH Gene

Domains & Families for RHOH Gene

Gene Families for RHOH Gene

Suggested Antigen Peptide Sequences for RHOH Gene

Graphical View of Domain Structure for InterPro Entry

Q15669

UniProtKB/Swiss-Prot:

RHOH_HUMAN :
  • The region involved in interaction with ZAP70 is a non-canonical immunoreceptor tyrosine-based activation motif (ITAM).
  • Belongs to the small GTPase superfamily. Rho family.
Domain:
  • The region involved in interaction with ZAP70 is a non-canonical immunoreceptor tyrosine-based activation motif (ITAM).
Family:
  • Belongs to the small GTPase superfamily. Rho family.
genes like me logo Genes that share domains with RHOH: view

Function for RHOH Gene

Molecular function for RHOH Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
By CSF2/GM-CSF. Down-regulated by phorbol myristate acetate (PMA).

Gene Ontology (GO) - Molecular Function for RHOH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005095 GTPase inhibitor activity NAS 11809807
GO:0005515 protein binding IPI 11809807
GO:0005525 GTP binding IDA 11809807
GO:0017048 Rho GTPase binding NAS 11809807
genes like me logo Genes that share ontologies with RHOH: view
genes like me logo Genes that share phenotypes with RHOH: view

Animal Models for RHOH Gene

MGI Knock Outs for RHOH:

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RHOH Gene

Localization for RHOH Gene

Subcellular locations from UniProtKB/Swiss-Prot for RHOH Gene

Cytoplasm. Cell membrane; Lipid-anchor; Cytoplasmic side. Note=Colocalizes together with ZAP70 in the immunological synapse. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RHOH gene
Compartment Confidence
plasma membrane 5
cytosol 5
extracellular 2
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for RHOH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001772 immunological synapse IEA --
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA,IDA 11809807
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with RHOH: view

Pathways & Interactions for RHOH Gene

genes like me logo Genes that share pathways with RHOH: view

Gene Ontology (GO) - Biological Process for RHOH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated NAS 11809807
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0030217 T cell differentiation NAS 11809807
GO:0034260 negative regulation of GTPase activity IEA --
GO:0042326 negative regulation of phosphorylation IEA --
genes like me logo Genes that share ontologies with RHOH: view

No data available for SIGNOR curated interactions for RHOH Gene

Drugs & Compounds for RHOH Gene

(1) Drugs for RHOH Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for RHOH Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RHOH: view

Transcripts for RHOH Gene

Unigene Clusters for RHOH Gene

Ras homolog family member H:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RHOH Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b · 10c ·
SP1: - - - - - - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - - - - - - - -
SP4: - - - - - - - - - - - -
SP5: - - - - - - - - - -
SP6: - - - - - - - - - - - - - -
SP7: - - - - -
SP8: - - - - - - - - - -
SP9: - - - - - - - - - - -
SP10: - - - - - - - - - - - - -
SP11: - -
SP12: - - - - - - - - - - - -
SP13: - - - - - - - - - - - -

ExUns: 10d · 10e · 10f · 10g
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for RHOH Gene

GeneLoc Exon Structure for
RHOH
ECgene alternative splicing isoforms for
RHOH

Expression for RHOH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RHOH Gene

mRNA differential expression in normal tissues according to GTEx for RHOH Gene

This gene is overexpressed in Whole Blood (x10.3) and Spleen (x8.6).

Protein differential expression in normal tissues from HIPED for RHOH Gene

This gene is overexpressed in Peripheral blood mononuclear cells (38.9), Tlymphocyte (11.9), and Lymph node (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RHOH Gene



Protein tissue co-expression partners for RHOH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RHOH Gene:

RHOH

SOURCE GeneReport for Unigene cluster for RHOH Gene:

Hs.654594

mRNA Expression by UniProt/SwissProt for RHOH Gene:

Q15669-RHOH_HUMAN
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.

Evidence on tissue expression from TISSUES for RHOH Gene

  • Blood(2.4)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with RHOH: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for RHOH Gene

Orthologs for RHOH Gene

This gene was present in the common ancestor of animals.

Orthologs for RHOH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RHOH 34 35
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia RHOH 34 35
  • 91.45 (n)
mouse
(Mus musculus)
Mammalia Rhoh 34 16 35
  • 90.58 (n)
cow
(Bos Taurus)
Mammalia RHOH 34 35
  • 89.35 (n)
rat
(Rattus norvegicus)
Mammalia Rhoh 34
  • 89.01 (n)
oppossum
(Monodelphis domestica)
Mammalia RHOH 35
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RHOH 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves RHOH 34 35
  • 79.41 (n)
lizard
(Anolis carolinensis)
Reptilia RHOH 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rhoh 34
  • 72.11 (n)
zebrafish
(Danio rerio)
Actinopterygii rhoh 34 35
  • 67.91 (n)
worm
(Caenorhabditis elegans)
Secernentea crp-1 35
  • 32 (a)
OneToOne
Species where no ortholog for RHOH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RHOH Gene

ENSEMBL:
Gene Tree for RHOH (if available)
TreeFam:
Gene Tree for RHOH (if available)

Paralogs for RHOH Gene

Variants for RHOH Gene

Sequence variations from dbSNP and Humsavar for RHOH Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000074072 -- 40,220,556(+) AAATC(A/T)TTTCT intron-variant
rs1000074883 -- 40,211,200(+) TGTTT(G/T)GTAAG intron-variant
rs1000216109 -- 40,232,835(+) CACCC(C/G)CAAAG intron-variant
rs1000240640 -- 40,233,208(+) AAGGT(A/T)GGTAT intron-variant
rs1000402498 -- 40,194,719(+) TCAAA(A/G)TGGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RHOH Gene

Variant ID Type Subtype PubMed ID
esv3449158 CNV insertion 20981092
esv3600303 OTHER inversion 21293372
nsv478713 CNV novel sequence insertion 20440878
nsv513655 OTHER inversion 21212237
nsv513656 OTHER inversion 21212237
nsv950578 CNV duplication 24416366

Variation tolerance for RHOH Gene

Residual Variation Intolerance Score: 36.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.68; 14.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RHOH Gene

Human Gene Mutation Database (HGMD)
RHOH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RHOH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHOH Gene

Disorders for RHOH Gene

MalaCards: The human disease database

(2) MalaCards diseases for RHOH Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
t-cell immunodeficiency with epidermodysplasia verruciformis
  • t-cell immunodeficiency due to rhoh deficiency
hodgkin lymphoma
  • hodgkin's lymphoma
- elite association - COSMIC cancer census association via MalaCards
Search RHOH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RHOH_HUMAN
  • Note=A chromosomal aberration involving RHOH is found in a non-Hodgkin lymphoma cell line. Translocation t(3;4)(q27;p11) with BCL6.

Relevant External Links for RHOH

Genetic Association Database (GAD)
RHOH
Human Genome Epidemiology (HuGE) Navigator
RHOH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RHOH
genes like me logo Genes that share disorders with RHOH: view

No data available for Genatlas for RHOH Gene

Publications for RHOH Gene

  1. TTF, a gene encoding a novel small G protein, fuses to the lymphoma- associated LAZ3 gene by t(3;4) chromosomal translocation. (PMID: 7784061) Dallery E. … Kerckaert J.-P. (Oncogene 1995) 2 3 4 22 64
  2. A genome-wide association study identifies two new risk loci for Graves' disease. (PMID: 21841780) Chu X. … Song H.D. (Nat. Genet. 2011) 3 46 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. RhoH/TTF negatively regulates leukotriene production in neutrophils. (PMID: 19414807) Daryadel A. … Simon H.-U. (J. Immunol. 2009) 3 4 64
  5. Multiple Rho proteins regulate the subcellular targeting of PAK5. (PMID: 17064668) Wu X. … Frost J.A. (Biochem. Biophys. Res. Commun. 2006) 3 4 64

Products for RHOH Gene

  • Addgene plasmids for RHOH

Sources for RHOH Gene

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