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RHOH (Ras homolog gene family, member H)

Identity

Other namesTTF (translocation three four)
ARHH
HGNC (Hugo) RHOH
Location 4p13
Location_base_pair Starts at 40198527 and ends at 40246281 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  RHPH (4p13) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it

DNA/RNA

Description spans on a 35 kb genomic fragment; two exons separated by a large intron; small GTPase encoding gene
Transcription 2.2 kb mRNA; coding sequence: 575 bp, located in the second exon

Protein

Description 191 amino acids; 21 kDa; contains a GTP binding motif, a GTPase activity site, and a membrane localisation signal (CAAX box) in the very C-term
Expression restricted to the hemopoietic tissues
Localisation plasmic membrane
Function small GTPase of the Rho subfamily; involved in signal transduction and cytoskeletal reorganization
Homology with all GTPases of the Ras superfamily

Implicated in

Entity t(3;4)(q27;p13)/NHL --> BCL6 - RHOH
Disease follicular NHL
Cytogenetics observed as a secondary anomaly
Hybrid/Mutated Gene 5' RHOH - 3' BCL6 and 5' BCL6 - 3' RHOH, leading to two fusion transcripts
Abnormal Protein no fusion protein, but promoter exchange between both partner genes
  
Entity t(4;14)(p13;q32)/multiple myeloma --> RHOH - ??
Disease multiple myeloma
Prognosis still unknown: only 1 available case
Cytogenetics observed as a unique anomaly
Hybrid/Mutated Gene not yet known (under study)
  

Breakpoints

 

External links

Nomenclature
HGNC (Hugo)RHOH   686
Entrez_Gene (NCBI)RHOH  399  ras homolog gene family, member H
Cards
AtlasRHOH93
GeneCards (Weizmann)RHOH
Ensembl (Hinxton)ENSG00000168421 [Gene_View]  RHOH [Vega]
AceView (NCBI)RHOH
Genatlas (Paris)RHOH
euGene (Indiana)399
SOURCE (Stanford)NM_004310
Gene Expression (Array Express) ENSG00000168421
Genomic and cartography
GoldenPath (UCSC)RHOH  -  4p13   chr4:40198527-40246281 +  4p13   [Description]    (hg19-Feb_2009)
EnsemblRHOH - 4p13 [CytoView]
Mapping of homologs : NCBIRHOH [Mapview]
OMIM602037   
Gene and transcription
Gene : Genbank (Entrez)AF498975 AI865435 AK313744 BC014261 BG025818
Reference sequence (RefSeq transcript) :SRSNM_004310
Reference transcript : EntrezNM_004310
RefSeq genomic : SRSAC_000047 AC_000136 NC_000004 NT_016297 NW_001838902 NW_922073
RefSeq genomic : EntrezAC_000047 AC_000136 NC_000004 NT_016297 NW_001838902 NW_922073
Consensus coding sequences : CCDS NCBIRHOH
Cluster EST : UnigeneHs.654594 [ SRS ] Hs.654594 [ NCBI ]
Alternative Splicing : Fast-db (Paris)3740
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ15669 (SRS) Q15669 (Expasy) Q15669 (Uniprot)
With graphics : InterProQ15669
Splice isoforms : VarSplice FASTAQ15669(VarSplice FASTA)
Domaine pattern : Prosite (SRS)RHO (PS51420)   
Domain pattern : Prosite (Expaxy)RHO (PS51420)   
Domains : Interpro (SRS)GTPase_Rho    Ras    Ras_GTPase    Small_GTP_bd   
Domains : Interpro (EBI)GTPase_Rho    Ras    Ras_GTPase    Small_GTP_bd   
Related proteins : CluSTrQ15669
Domain families : Pfam SRSRas (PF00071)   
Domain families : Pfam SangerRas (PF00071)   
Domain families : Pfam NCBIpfam00071   
Domain families : Smart EMBLRHO (SM00174)  
Blocks (Seattle)Q15669
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
Human Protein AtlasENSG00000168421
HPRD03616
Protein Interaction databases
DIP (DOE-UCLA)Q15669
IntAct (EBI)Q15669
FunCoupENSG00000168421
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIRHOH
SNP : GeneSNP UtahRHOH
SNP : HGBaseRHOH
Genetic variants : HAPMAPRHOH
Somatic Mutations in Cancer : COSMICRHOH 
Translocation Breakpoints in Cancer : TICdbRHOH 
Mutations and Diseases : HGMDRHOH
Hereditary diseases : OMIM602037   
Hereditary diseases : GENETests602037   
Diseases : Genetic AssociationRHOH
General knowledge
Homologs : HomoloGeneRHOH
Homology/Alignments : Family Browser UCSCRHOH
Phylogenetic Trees/Animal Genes : TreeFamRHOH
Chemical/Protein Interactions : CTD399
Keywords Ontology : AmiGOnucleotide binding  GTPase inhibitor activity  protein binding  GTP binding  intracellular  cytoplasm  plasma membrane  small GTPase mediated signal transduction  Rho GTPase binding  kinase inhibitor activity  T cell differentiation  negative regulation of I-kappaB kinase/NF-kappaB cascade  regulation of transcription  
Keywords Ontology : EGO-EBInucleotide binding  GTPase inhibitor activity  protein binding  GTP binding  intracellular  cytoplasm  plasma membrane  small GTPase mediated signal transduction  Rho GTPase binding  kinase inhibitor activity  T cell differentiation  negative regulation of I-kappaB kinase/NF-kappaB cascade  regulation of transcription  
Pathways : BIOCARTA
Pathways : KEGGLeukocyte transendothelial migration
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Probes : ImagenesRHOH Related clones (RZPD - Berlin)
Literature
PubMed20 Pubmed reference(s) in Entrez
PubGeneRHOH

Bibliography

TTF, a gene encoding a novel small G protein, fuses to the lymphoma-associated LAZ3 gene by t(3;4) chromosomal translocation.
Dallery E, Galiˆ®gue-Zouitina S, Collyn-d'Hooghe M, Quief S, Denis C, Hildebrand MP, Lantoine D, Deweindt C, Tilly H, Bastard C
Oncogene. 1995 ; 10 (11) : 2171-2178.
PMID 7784061
 
Genomic structure and assignment of the RhoH/TTF small GTPase gene (ARHH) to 4p13 by in situ hybridization.
Dallery-Prudhomme E, Roumier C, Denis C, Preudhomme C, Kerckaert JP, Galiegue-Zouitina S
Genomics. 1997 ; 43 (1) : 89-94.
PMID 9226377
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written02-1998Sylvie Galiègue-Zouitina

Citation

This paper should be referenced as such :
Galiègue-Zouitina S . RHOH (Ras homolog gene family, member H). Atlas Genet Cytogenet Oncol Haematol. February 1998 .
URL : http://AtlasGeneticsOncology.org/Genes/RHOH93.html

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indexed on : Thu Jul 15 14:51:31 CEST 2010
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