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    RHOH ras homolog family member H [ Homo sapiens (human) ]

    Gene ID: 399, updated on 10-Dec-2024

    Summary

    Official Symbol
    RHOHprovided by HGNC
    Official Full Name
    ras homolog family member Hprovided by HGNC
    Primary source
    HGNC:HGNC:686
    See related
    Ensembl:ENSG00000168421 MIM:602037; AllianceGenome:HGNC:686
    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
    TTF; ARHH; IMD129
    Summary
    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]
    Expression
    Biased expression in lymph node (RPKM 20.2), bone marrow (RPKM 10.8) and 8 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RHOH in Genome Data Viewer
    Location:
    4p14
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (40191080..40246967)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (40161181..40217041)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (40192700..40248587)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900183 Neighboring gene RNA, U6 small nuclear 1112, pseudogene Neighboring gene NEDD4 binding protein 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:40140819-40141412 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:40149211-40149992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21473 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21477 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21481 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:40239787-40240778 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:40252200-40253399 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:40259652-40260430 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:40270986-40271804 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:40271805-40272621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21487 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:40311945-40313144 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:40318591-40319429 Neighboring gene long intergenic non-protein coding RNA 2265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21489 Neighboring gene cholinergic receptor nicotinic alpha 9 subunit

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Epidermodysplasia verruciformis, susceptibility to, 4
    MedGen: C4749042 OMIM: 618307 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies two new risk loci for Graves' disease.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ39798

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 inhibitor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables kinase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables small GTPase binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in T cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in actin filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mast cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of T cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in small GTPase-mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in immunological synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    rho-related GTP-binding protein RhoH
    Names
    GTP-binding protein TTF
    TTF, translocation three four
    ras homolog gene family, member H

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_033255.2 RefSeqGene

      Range
      11021..60957
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_736

    mRNA and Protein(s)

    1. NM_001278359.2NP_001265288.1  rho-related GTP-binding protein RhoH precursor

      See identical proteins and their annotated locations for NP_001265288.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 through 12 encode the same protein.
      Source sequence(s)
      AA767445, AC095057, BC014261, BX413967, DA815617, DA906265
      Consensus CDS
      CCDS3458.1
      UniProtKB/Swiss-Prot
      Q15669
      UniProtKB/TrEMBL
      A0A024R9S8, Q6ICP4
      Conserved Domains (1) summary
      cd00157
      Location:5169
      Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
    2. NM_001278360.2NP_001265289.1  rho-related GTP-binding protein RhoH precursor

      See identical proteins and their annotated locations for NP_001265289.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon and contains an alternate exon in the 5' UTR, compared to variant 1. Variants 1 through 12 encode the same protein.
      Source sequence(s)
      AA767445, AC095057, BC014261, BX413967, DA906265, DB119883
      Consensus CDS
      CCDS3458.1
      UniProtKB/Swiss-Prot
      Q15669
      UniProtKB/TrEMBL
      A0A024R9S8, Q6ICP4
      Related
      ENSP00000514774.1, ENST00000515503.6
      Conserved Domains (1) summary
      cd00157
      Location:5169
      Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
    3. NM_001278361.2NP_001265290.1  rho-related GTP-binding protein RhoH precursor

      See identical proteins and their annotated locations for NP_001265290.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon and contains an alternate exon in the 5' UTR, compared to variant 1. Variants 1 through 12 encode the same protein.
      Source sequence(s)
      AA767445, AC095057, BC014261, BX413967, DA383563, DA906265
      Consensus CDS
      CCDS3458.1
      UniProtKB/Swiss-Prot
      Q15669
      UniProtKB/TrEMBL
      A0A024R9S8, Q6ICP4
      Related
      ENSP00000514771.1, ENST00000513894.6
      Conserved Domains (1) summary
      cd00157
      Location:5169
      Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
    4. NM_001278362.2NP_001265291.1  rho-related GTP-binding protein RhoH precursor

      See identical proteins and their annotated locations for NP_001265291.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon and contains an alternate exon in the 5' UTR, compared to variant 1. Variants 1 through 12 encode the same protein.
      Source sequence(s)
      AA767445, AC095057, BC014261, BX413967, DA906265, DA950405
      Consensus CDS
      CCDS3458.1
      UniProtKB/Swiss-Prot
      Q15669
      UniProtKB/TrEMBL
      A0A024R9S8, Q6ICP4
      Related
      ENSP00000514773.1, ENST00000515718.6
      Conserved Domains (1) summary
      cd00157
      Location:5169
      Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
    5. NM_001278363.2NP_001265292.1  rho-related GTP-binding protein RhoH precursor

      See identical proteins and their annotated locations for NP_001265292.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an exon and uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1 through 12 encode the same protein.
      Source sequence(s)
      AA767445, AC095057, BC014261, BI908453, BX413967, DA906265
      Consensus CDS
      CCDS3458.1
      UniProtKB/Swiss-Prot
      Q15669
      UniProtKB/TrEMBL
      A0A024R9S8, Q6ICP4
      Related
      ENSP00000478248.1, ENST00000614836.2
      Conserved Domains (1) summary
      cd00157
      Location:5169
      Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
    6. NM_001278364.2NP_001265293.1  rho-related GTP-binding protein RhoH precursor

      See identical proteins and their annotated locations for NP_001265293.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' most exons in the 5' UTR, compared to variant 1. Variants 1 through 12 encode the same protein.
      Source sequence(s)
      AA767445, AC095057, BC014261, BM457874, BX413967, DA906265
      Consensus CDS
      CCDS3458.1
      UniProtKB/Swiss-Prot
      Q15669
      UniProtKB/TrEMBL
      A0A024R9S8, Q6ICP4
      Related
      ENSP00000422241.2, ENST00000508513.6
      Conserved Domains (1) summary
      cd00157
      Location:5169
      Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
    7. NM_001278365.2NP_001265294.1  rho-related GTP-binding protein RhoH precursor

      See identical proteins and their annotated locations for NP_001265294.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' most exons and lacks an exon in the 5' UTR, compared to variant 1. Variants 1 through 12 encode the same protein.
      Source sequence(s)
      AA767445, AC095057, BC014261, BI818548, BX413967, DA906265, DA951252
      Consensus CDS
      CCDS3458.1
      UniProtKB/Swiss-Prot
      Q15669
      UniProtKB/TrEMBL
      A0A024R9S8, Q6ICP4
      Related
      ENSP00000514769.1, ENST00000503754.6
      Conserved Domains (1) summary
      cd00157
      Location:5169
      Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
    8. NM_001278366.2NP_001265295.1  rho-related GTP-binding protein RhoH precursor

      See identical proteins and their annotated locations for NP_001265295.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' most exons and lacks an exon in the 5' UTR, compared to variant 1. Variants 1 through 12 encode the same protein.
      Source sequence(s)
      AA767445, AC095057, AW402442, BC014261, BX413967, DA906265
      Consensus CDS
      CCDS3458.1
      UniProtKB/Swiss-Prot
      Q15669
      UniProtKB/TrEMBL
      A0A024R9S8, Q6ICP4
      Related
      ENSP00000514770.1, ENST00000511967.6
      Conserved Domains (1) summary
      cd00157
      Location:5169
      Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
    9. NM_001278367.2NP_001265296.1  rho-related GTP-binding protein RhoH precursor

      See identical proteins and their annotated locations for NP_001265296.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) contains an alternate 5' exon and lacks two exons in the 5' UTR, compared to variant 1. Variants 1 through 12 encode the same protein.
      Source sequence(s)
      AA767445, AC095057, BC014261, BI818548, BX413967
      Consensus CDS
      CCDS3458.1
      UniProtKB/Swiss-Prot
      Q15669
      UniProtKB/TrEMBL
      A0A024R9S8, Q6ICP4
      Related
      ENSP00000423384.2, ENST00000507851.6
      Conserved Domains (1) summary
      cd00157
      Location:5169
      Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
    10. NM_001278368.2NP_001265297.1  rho-related GTP-binding protein RhoH precursor

      See identical proteins and their annotated locations for NP_001265297.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) contains an alternate 5' exon and lacks two exons in the 5' UTR, compared to variant 1. Variants 1 through 12 encode the same protein.
      Source sequence(s)
      AA767445, AC095057, BC014261, BX413967, DB115332
      Consensus CDS
      CCDS3458.1
      UniProtKB/Swiss-Prot
      Q15669
      UniProtKB/TrEMBL
      A0A024R9S8, Q6ICP4
      Related
      ENSP00000425010.1, ENST00000505618.6
      Conserved Domains (1) summary
      cd00157
      Location:5169
      Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
    11. NM_001278369.2NP_001265298.1  rho-related GTP-binding protein RhoH precursor

      See identical proteins and their annotated locations for NP_001265298.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) contains an alternate 5' exon and lacks two exons in the 5' UTR, compared to variant 1. Variants 1 through 12 encode the same protein.
      Source sequence(s)
      AA767445, AC095057, BC014261, BU934664, BX413967
      Consensus CDS
      CCDS3458.1
      UniProtKB/Swiss-Prot
      Q15669
      UniProtKB/TrEMBL
      A0A024R9S8, Q6ICP4
      Related
      ENSP00000426439.2, ENST00000503941.6
      Conserved Domains (1) summary
      cd00157
      Location:5169
      Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
    12. NM_004310.5NP_004301.1  rho-related GTP-binding protein RhoH precursor

      See identical proteins and their annotated locations for NP_004301.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an exon in the 5' UTR, compared to variant 1. Variants 1 through 12 encode the same protein.
      Source sequence(s)
      AA767445, AC095057, BC014261, BX413967, DA906265
      Consensus CDS
      CCDS3458.1
      UniProtKB/Swiss-Prot
      Q15669
      UniProtKB/TrEMBL
      A0A024R9S8, Q6ICP4
      Related
      ENSP00000371219.4, ENST00000381799.10
      Conserved Domains (1) summary
      cd00157
      Location:5169
      Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      40191080..40246967
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047415674.1XP_047271630.1  rho-related GTP-binding protein RhoH isoform X1

      UniProtKB/Swiss-Prot
      Q15669
      UniProtKB/TrEMBL
      A0A024R9S8, Q6ICP4
    2. XM_011513692.2XP_011511994.1  rho-related GTP-binding protein RhoH isoform X1

      See identical proteins and their annotated locations for XP_011511994.1

      UniProtKB/Swiss-Prot
      Q15669
      UniProtKB/TrEMBL
      A0A024R9S8, Q6ICP4
      Conserved Domains (1) summary
      cd00157
      Location:5169
      Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
    3. XM_017008189.2XP_016863678.1  rho-related GTP-binding protein RhoH isoform X1

      UniProtKB/Swiss-Prot
      Q15669
      UniProtKB/TrEMBL
      A0A024R9S8, Q6ICP4
      Conserved Domains (1) summary
      cd00157
      Location:5169
      Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
    4. XM_047415675.1XP_047271631.1  rho-related GTP-binding protein RhoH isoform X1

      UniProtKB/Swiss-Prot
      Q15669
      UniProtKB/TrEMBL
      A0A024R9S8, Q6ICP4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      40161181..40217041
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349983.1XP_054205958.1  rho-related GTP-binding protein RhoH isoform X1

      UniProtKB/Swiss-Prot
      Q15669
      UniProtKB/TrEMBL
      A0A024R9S8, Q6ICP4
    2. XM_054349981.1XP_054205956.1  rho-related GTP-binding protein RhoH isoform X1

      UniProtKB/Swiss-Prot
      Q15669
      UniProtKB/TrEMBL
      A0A024R9S8, Q6ICP4
    3. XM_054349982.1XP_054205957.1  rho-related GTP-binding protein RhoH isoform X1

      UniProtKB/Swiss-Prot
      Q15669
      UniProtKB/TrEMBL
      A0A024R9S8, Q6ICP4