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

Gene ID: 399, updated on 7-Jun-2020

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
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
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

Genomic context

See RHOH in Genome Data Viewer
Location:
4p14
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (40191080..40246967)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (40192631..40246384)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene acyl-CoA thioesterase 7 pseudogene Neighboring gene NEDD4 binding protein 2 Neighboring gene RNA, U6 small nuclear 1112, pseudogene Neighboring gene long intergenic non-protein coding RNA 2265 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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ39798

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase inhibitor activity NAS
Non-traceable Author Statement
more info
PubMed 
Rho GTPase binding NAS
Non-traceable Author Statement
more info
PubMed 
kinase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
Rac protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
T cell differentiation NAS
Non-traceable Author Statement
more info
PubMed 
actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell projection assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cortical cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
engulfment of apoptotic cell IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mast cell activation IEA
Inferred from Electronic Annotation
more info
 
motor neuron axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of I-kappaB kinase/NF-kappaB signaling IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of kinase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of T cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cell shape IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of neutrophil migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell cortex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
immunological synapse IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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)

mRNA and Protein(s)

  1. NM_001278359.1NP_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, BC014261, BX413967, DA815617, DA906265
    Consensus CDS
    CCDS3458.1
    UniProtKB/Swiss-Prot
    Q15669
    UniProtKB/TrEMBL
    Q6ICP4
    Related
    ENSP00000480192.1, ENST00000610353.4
    Conserved Domains (1) summary
    cd00157
    Location:5169
    Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
  2. NM_001278360.1NP_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, BC014261, BX413967, DA906265, DB119883
    Consensus CDS
    CCDS3458.1
    UniProtKB/Swiss-Prot
    Q15669
    UniProtKB/TrEMBL
    Q6ICP4
    Related
    ENSP00000481836.1, ENST00000622175.4
    Conserved Domains (1) summary
    cd00157
    Location:5169
    Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
  3. NM_001278361.1NP_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, BC014261, BX413967, DA383563, DA906265
    Consensus CDS
    CCDS3458.1
    UniProtKB/Swiss-Prot
    Q15669
    UniProtKB/TrEMBL
    Q6ICP4
    Related
    ENSP00000481746.1, ENST00000619474.4
    Conserved Domains (1) summary
    cd00157
    Location:5169
    Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
  4. NM_001278362.1NP_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, BC014261, BX413967, DA906265, DA950405
    Consensus CDS
    CCDS3458.1
    UniProtKB/Swiss-Prot
    Q15669
    UniProtKB/TrEMBL
    Q6ICP4
    Related
    ENSP00000480379.1, ENST00000615083.4
    Conserved Domains (1) summary
    cd00157
    Location:5169
    Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
  5. NM_001278363.1NP_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, BC014261, BI908453, BX413967, DA906265
    Consensus CDS
    CCDS3458.1
    UniProtKB/Swiss-Prot
    Q15669
    UniProtKB/TrEMBL
    Q6ICP4
    Related
    ENSP00000478248.1, ENST00000614836.1
    Conserved Domains (1) summary
    cd00157
    Location:5169
    Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
  6. NM_001278364.1NP_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
    Q6ICP4
    Related
    ENSP00000481566.1, ENST00000615577.4
    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
    Q6ICP4
    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
    Q6ICP4
    Conserved Domains (1) summary
    cd00157
    Location:5169
    Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
  9. NM_001278367.1NP_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
    Q6ICP4
    Related
    ENSP00000480772.1, ENST00000613272.4
    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
    Q6ICP4
    Related
    ENSP00000425010.1, ENST00000505618.5
    Conserved Domains (1) summary
    cd00157
    Location:5169
    Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
  11. NM_001278369.1NP_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, AY673954, BC014261, BU934664, BX413967
    Consensus CDS
    CCDS3458.1
    UniProtKB/Swiss-Prot
    Q15669
    UniProtKB/TrEMBL
    Q6ICP4
    Related
    ENSP00000482947.1, ENST00000617441.4
    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
    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: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024454042.1XP_024309810.1  rho-related GTP-binding protein RhoH isoform X1

    Conserved Domains (1) summary
    cd00157
    Location:5169
    Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
  2. XM_011513692.1XP_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
    Q6ICP4
    Conserved Domains (1) summary
    cd00157
    Location:5169
    Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
  3. XM_017008188.1XP_016863677.1  rho-related GTP-binding protein RhoH isoform X1

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

    UniProtKB/Swiss-Prot
    Q15669
    UniProtKB/TrEMBL
    Q6ICP4
    Conserved Domains (1) summary
    cd00157
    Location:5169
    Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
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