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

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: mouse all
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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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Weighted gene co-expression network analysis identifies RHOH and TRAF1 as key candidate genes for psoriatic arthritis.
Title: Weighted gene co-expression network analysis identifies RHOH and TRAF1 as key candidate genes for psoriatic arthritis.
In AML, RhoH expression negatively correlates with recurrence rate, which can be used as a prognostic indicator independently
Title: [Expression Difference of RhoH Gene in Leukemia and Its Clinical Significance].
RhoH promotes prostate cancer cell migration and RhoH expression levels correlate with prostate cancer progression.
Title: An RNAi screen of Rho signalling networks identifies RhoH as a regulator of Rac1 in prostate cancer cell migration.
extracellular microenvironment signals regulate RhoH and Kaiso to modulate actin-cytoskeleton structure and transcriptional activity during T cell migration
Title: RhoH participates in a multi-protein complex with the zinc finger protein kaiso that regulates both cytoskeletal structures and chemokine-induced T cells.
These results highlight a novel negative regulatory role for RhoH in eosinophil differentiation, most likely in consequence of altered GATA-2 levels.
Title: RhoH is a negative regulator of eosinophilopoiesis.
Mutations in hematopoiesis-specific Rho GTPases Rac2 and RhoH lead to a wide range of human blood disorders. (Review)
Title: Hematopoietic-specific Rho GTPases Rac2 and RhoH and human blood disorders.
Our current results indicate differential requirements for RhoH in the development of TCRalphabeta CD8alphaalpha IELs compared to other subsets of T cells including agonist selected T cells.
Title: Differential requirement for RhoH in development of TCRαβ CD8αα IELs and other types of T cells.
RHOH deficiency leads to T cell defects and persistent epidermodysplasia verruciformis-HPV infections.
Title: Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections.
conclude that RhoH expression provides a key molecular determinant that allows T cells to switch between sensing chemokine-mediated go signals and TCR-dependent stop signals
Title: Opposing roles for RhoH GTPase during T-cell migration and activation.
RhoH plays a critical role in prosurvival chronic lymphocytic leukemia cell-cell and cell-microenvironment interactions with this agent.
Title: RhoH is critical for cell-microenvironment interactions in chronic lymphocytic leukemia in mice and humans.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

ARHH_59 (e-PCR)
- UniSTS:277013

D11S3374 (e-PCR)
- UniSTS:152616

D8S2279 (e-PCR)
- UniSTS:473907

D8S2282 (e-PCR)
- UniSTS:473910

D4S3233 (e-PCR)
- UniSTS:31133

STS-AA011489 (e-PCR)
- UniSTS:79775

L17809 (e-PCR)
- UniSTS:39087

D4S190 (e-PCR)
- UniSTS:50146

STS-Z35227 (e-PCR)
- UniSTS:64994

D4S190 (e-PCR)
- UniSTS:45812

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

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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)

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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

NG_033255.2 RefSeqGene

Range

11021..60957

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_736

mRNA and Protein(s)

NM_001278359.2 → NP_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:5 → 169

Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
NM_001278360.2 → NP_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:5 → 169

Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
NM_001278361.2 → NP_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:5 → 169

Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
NM_001278362.2 → NP_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:5 → 169

Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
NM_001278363.2 → NP_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:5 → 169

Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
NM_001278364.2 → NP_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:5 → 169

Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
NM_001278365.2 → NP_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:5 → 169

Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
NM_001278366.2 → NP_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:5 → 169

Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
NM_001278367.2 → NP_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:5 → 169

Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
NM_001278368.2 → NP_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:5 → 169

Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
NM_001278369.2 → NP_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:5 → 169

Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
NM_004310.5 → NP_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:5 → 169

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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

40191080..40246967

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q15669

UniProtKB/TrEMBL

A0A024R9S8, Q6ICP4
XM_011513692.2 → XP_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:5 → 169

Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
XM_017008189.2 → XP_016863678.1 rho-related GTP-binding protein RhoH isoform X1

UniProtKB/Swiss-Prot

Q15669

UniProtKB/TrEMBL

A0A024R9S8, Q6ICP4

Conserved Domains (1) summary

cd00157
Location:5 → 169

Rho; Ras homology family (Rho) of small guanosine triphosphatases (GTPases)
XM_047415675.1 → XP_047271631.1 rho-related GTP-binding protein RhoH isoform X1

UniProtKB/Swiss-Prot

Q15669

UniProtKB/TrEMBL

A0A024R9S8, Q6ICP4

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

40161181..40217041

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q15669

UniProtKB/TrEMBL

A0A024R9S8, Q6ICP4
XM_054349981.1 → XP_054205956.1 rho-related GTP-binding protein RhoH isoform X1

UniProtKB/Swiss-Prot

Q15669

UniProtKB/TrEMBL

A0A024R9S8, Q6ICP4
XM_054349982.1 → XP_054205957.1 rho-related GTP-binding protein RhoH isoform X1

UniProtKB/Swiss-Prot

Q15669

UniProtKB/TrEMBL

A0A024R9S8, Q6ICP4