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

Gene ID: 399, updated on 5-Mar-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
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
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Genomic context

Location:
4p14
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (40191080..40246967)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (40161181..40217041)
105.20220307 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_2023_10

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