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RHOT1 ras homolog family member T1 [ Homo sapiens (human) ]

Gene ID: 55288, updated on 25-Jan-2022

Summary

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Official Symbol
RHOT1provided by HGNC
Official Full Name
ras homolog family member T1provided by HGNC
Primary source
HGNC:HGNC:21168
See related
Ensembl:ENSG00000126858 MIM:613888; AllianceGenome:HGNC:21168
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ARHT1; MIRO1; MIRO-1
Summary
Predicted to enable GTP binding activity and GTPase activity. Involved in cellular homeostasis; mitochondrial outer membrane permeabilization; and mitochondrion transport along microtubule. Is integral component of mitochondrial outer membrane. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Ubiquitous expression in adrenal (RPKM 9.0), thyroid (RPKM 8.7) and 25 other tissues See more
Orthologs
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Genomic context

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See RHOT1 in Genome Data Viewer
Location:
17q11.2
Exon count:
28
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (32142502..32253374)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (30469521..30552746)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NF1-REPc PRS3 recombination region Neighboring gene WD repeat domain 45B pseudogene 1 Neighboring gene uncharacterized LOC105371730 Neighboring gene arginine-fifty homeobox pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 9359 Neighboring gene ubiquitin like 5 pseudogene 2 Neighboring gene uncharacterized LOC105371731 Neighboring gene uncharacterized LOC105371732 Neighboring gene rhomboid like 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Impaired mitochondrial-endoplasmic reticulum interaction and mitophagy in Miro1-mutant neurons in Parkinson's disease. Berenguer-Escuder C, et al. Hum Mol Genet, 2020 May 28. PMID 32280985, Free PMC Article
  2. Miro: A molecular switch at the center of mitochondrial regulation. Eberhardt EL, et al. Protein Sci, 2020 Jun. PMID 32056317, Free PMC Article
  3. Mutations in RHOT1 Disrupt Endoplasmic Reticulum-Mitochondria Contact Sites Interfering with Calcium Homeostasis and Mitochondrial Dynamics in Parkinson's Disease. Grossmann D, et al. Antioxid Redox Signal, 2019 Dec 1. PMID 31303019, Free PMC Article
  4. Circular RNA circRHOT1 is upregulated and promotes cell proliferation and invasion in pancreatic cancer. Qu S, et al. Epigenomics, 2019 Jan. PMID 30444423
  5. Miro1 Enhances Mitochondria Transfer from Multipotent Mesenchymal Stem Cells (MMSC) to Neural Cells and Improves the Efficacy of Cell Recovery. Babenko VA, et al. Molecules, 2018 Mar 19. PMID 29562677, Free PMC Article

See all (84) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Insight into human Miro1/2 domain organization based on the structure of its N-terminal GTPase.
    Title: Insight into human Miro1/2 domain organization based on the structure of its N-terminal GTPase.
  2. The role of RHOT1 and RHOT2 genetic variation on Parkinson disease risk and onset.
    Title: The role of RHOT1 and RHOT2 genetic variation on Parkinson disease risk and onset.
  3. Impaired mitochondrial-endoplasmic reticulum interaction and mitophagy in Miro1-mutant neurons in Parkinson's disease.
    Title: Impaired mitochondrial-endoplasmic reticulum interaction and mitophagy in Miro1-mutant neurons in Parkinson's disease.
  4. Circular RNA RHOT1 promotes progression and inhibits ferroptosis via mir-106a-5p/STAT3 axis in breast cancer.
    Title: Circular RNA RHOT1 promotes progression and inhibits ferroptosis via mir-106a-5p/STAT3 axis in breast cancer.
  5. Miro: A molecular switch at the center of mitochondrial regulation.
    Title: Miro: A molecular switch at the center of mitochondrial regulation.
  6. The ROTH1 is a genetic risk factor for Parkinson's disease, further implicating Miro1 in calcium homeostasis and mitochondrial quality control.
    Title: Mutations in <i>RHOT1</i> Disrupt Endoplasmic Reticulum-Mitochondria Contact Sites Interfering with Calcium Homeostasis and Mitochondrial Dynamics in Parkinson's Disease.
  7. circRHOT1 inhibits HCC development and progression via recruiting TIP60 to initiate NR2F6 expression, indicating that circRHOT1 and NR2F6 may be potential biomarkers for HCC prognosis.
    Title: Circular RNA circRHOT1 promotes hepatocellular carcinoma progression by initiation of NR2F6 expression.
  8. Results find that Miro1 is not only a substrate for PINK1/ Parkin-dependent degradation but might also function as a calcium-dependent docking site and safety switch for Parkin recruitment in mitochondria.
    Title: Miro proteins prime mitochondria for Parkin translocation and mitophagy.
  9. Miro1 binds directly to a C-terminal fragment of the Myo19 tail region and that Miro1/2 recruit the Myo19 tail.
    Title: Identification of Miro1 and Miro2 as mitochondrial receptors for myosin XIX.
  10. circRHOT1 was overexpressed in pancreatic cancer and that this circRHOT1 was predominantly located in the cytoplasm. Reducing the circRHOT1 expression inhibited pancreatic cancer cell proliferation, invasion and migration. CircRHOT1 may play important roles in pancreatic cancer through sponging tumor-associated miRNAs
    Title: Circular RNA circRHOT1 is upregulated and promotes cell proliferation and invasion in pancreatic cancer.
Submit: New GeneRIF Correction See all GeneRIFs (30)

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

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11040, FLJ12633

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrial outer membrane permeabilization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrion organization IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in mitochondrion transport along microtubule IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in mitochondrion transport along microtubule IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of mitochondrion organization IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in integral component of mitochondrial outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in integral component of mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane HDA PubMed 
located_in mitochondrial outer membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrion NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
mitochondrial Rho GTPase 1
Names
mitochondrial Rho (MIRO) GTPase 1
rac-GTP binding protein-like protein
ras homolog gene family, member T1

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.

mRNA and Protein(s)

  1. NM_001033566.3 → NP_001028738.1  mitochondrial Rho GTPase 1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AA772711, AJ496730, BC041114, BC060781
    Consensus CDS
    CCDS32611.1
    UniProtKB/Swiss-Prot
    Q8IXI2
    Related
    ENSP00000439737.2, ENST00000545287.7
    Conserved Domains (5) summary
    smart00174
    Location:7 → 169
    RHO; Rho (Ras homology) subfamily of Ras-like small GTPases
    cd01892
    Location:415 → 581
    Miro2; Mitochondrial Rho family 2 (Miro2), C-terminal
    cd01893
    Location:3 → 169
    Miro1; Mitochondrial Rho family 1 (Miro1), N-terminal
    pfam08355
    Location:341 → 409
    EF_assoc_1; EF hand associated
    pfam08356
    Location:221 → 301
    EF_assoc_2; EF hand associated

  2. NM_001033567.3 → NP_001028739.2  mitochondrial Rho GTPase 1 isoform 4

    See identical proteins and their annotated locations for NP_001028739.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains multiple coding region differences and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 4, which is shorter than isoform 1.
    Source sequence(s)
    AA772711, BC029029, BC041114, BC060781
    UniProtKB/Swiss-Prot
    Q8IXI2
    Conserved Domains (4) summary
    cd01892
    Location:288 → 465
    Miro2; Mitochondrial Rho family 2 (Miro2), C-terminal
    pfam08355
    Location:214 → 282
    EF_assoc_1; EF hand associated
    pfam08356
    Location:94 → 174
    EF_assoc_2; EF hand associated
    cl21455
    Location:1 → 42
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  3. NM_001033568.3 → NP_001028740.1  mitochondrial Rho GTPase 1 isoform 1

    See identical proteins and their annotated locations for NP_001028740.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AJ496730
    Consensus CDS
    CCDS32610.1
    UniProtKB/Swiss-Prot
    Q8IXI2
    Related
    ENSP00000351132.3, ENST00000358365.7
    Conserved Domains (5) summary
    smart00174
    Location:7 → 169
    RHO; Rho (Ras homology) subfamily of Ras-like small GTPases
    cd01892
    Location:415 → 580
    Miro2; Mitochondrial Rho family 2 (Miro2), C-terminal
    cd01893
    Location:3 → 169
    Miro1; Mitochondrial Rho family 1 (Miro1), N-terminal
    pfam08355
    Location:341 → 409
    EF_assoc_1; EF hand associated
    pfam08356
    Location:221 → 301
    EF_assoc_2; EF hand associated

  4. NM_001288754.2 → NP_001275683.1  mitochondrial Rho GTPase 1 isoform 5

    See identical proteins and their annotated locations for NP_001275683.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 5, which is shorter than isoform 1.
    Source sequence(s)
    AK294407, AY094972, BC060781, BC110895
    Consensus CDS
    CCDS74030.1
    UniProtKB/Swiss-Prot
    Q8IXI2
    Related
    ENSP00000378184.2, ENST00000394692.6
    Conserved Domains (5) summary
    smart00174
    Location:7 → 169
    RHO; Rho (Ras homology) subfamily of Ras-like small GTPases
    cd01892
    Location:415 → 580
    Miro2; Mitochondrial Rho family 2 (Miro2), C-terminal
    cd01893
    Location:3 → 169
    Miro1; Mitochondrial Rho family 1 (Miro1), N-terminal
    pfam08355
    Location:341 → 409
    EF_assoc_1; EF hand associated
    pfam08356
    Location:221 → 301
    EF_assoc_2; EF hand associated

  5. NM_001288755.2 → NP_001275684.1  mitochondrial Rho GTPase 1 isoform 6

    See identical proteins and their annotated locations for NP_001275684.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, has multiple coding region differences and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 6, which is shorter than isoform 1.
    Source sequence(s)
    AA772711, BC029029, BC060781, BC092401
    Consensus CDS
    CCDS74031.1
    UniProtKB/Swiss-Prot
    Q8IXI2
    UniProtKB/TrEMBL
    H7BXZ6
    Related
    ENSP00000346215.3, ENST00000354266.7
    Conserved Domains (4) summary
    cd01892
    Location:394 → 571
    Miro2; Mitochondrial Rho family 2 (Miro2), C-terminal
    pfam08355
    Location:320 → 388
    EF_assoc_1; EF hand associated
    pfam08356
    Location:200 → 280
    EF_assoc_2; EF hand associated
    cl21455
    Location:1 → 148
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  6. NM_001288758.2 → NP_001275687.1  mitochondrial Rho GTPase 1 isoform 7

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, contains multiple coding region differences and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 7, which is shorter than isoform 1.
    Source sequence(s)
    BC060781, BC110895
    UniProtKB/Swiss-Prot
    Q8IXI2
    Conserved Domains (4) summary
    cd01892
    Location:288 → 453
    Miro2; Mitochondrial Rho family 2 (Miro2), C-terminal
    pfam08355
    Location:214 → 282
    EF_assoc_1; EF hand associated
    pfam08356
    Location:94 → 174
    EF_assoc_2; EF hand associated
    cl21455
    Location:1 → 42
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  7. NM_018307.5 → NP_060777.3  mitochondrial Rho GTPase 1 isoform 3

    See identical proteins and their annotated locations for NP_060777.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two consecutive in-frame exons in the 3' coding region, compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.
    Source sequence(s)
    AA772711, BC041114, BC060781
    Consensus CDS
    CCDS32612.1
    UniProtKB/Swiss-Prot
    Q8IXI2
    Related
    ENSP00000334724.6, ENST00000333942.10
    Conserved Domains (5) summary
    smart00174
    Location:7 → 169
    RHO; Rho (Ras homology) subfamily of Ras-like small GTPases
    cd01892
    Location:415 → 592
    Miro2; Mitochondrial Rho family 2 (Miro2), C-terminal
    cd01893
    Location:3 → 169
    Miro1; Mitochondrial Rho family 1 (Miro1), N-terminal
    pfam08355
    Location:341 → 409
    EF_assoc_1; EF hand associated
    pfam08356
    Location:221 → 301
    EF_assoc_2; EF hand associated

RNA

  1. NR_110083.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) lacks an alternate internal exon and contains an alternate internal exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA772711, BC060781, BC068463
    Related
    ENST00000581031.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    32142502..32253374
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024819.1 → XP_016880308.1  mitochondrial Rho GTPase 1 isoform X5

  2. XM_011524975.3 → XP_011523277.1  mitochondrial Rho GTPase 1 isoform X2

    See identical proteins and their annotated locations for XP_011523277.1

    Conserved Domains (4) summary
    cd01892
    Location:394 → 559
    Miro2; Mitochondrial Rho family 2 (Miro2), C-terminal
    cd01893
    Location:1 → 148
    Miro1; Mitochondrial Rho family 1 (Miro1), N-terminal
    pfam08355
    Location:320 → 388
    EF_assoc_1; EF hand associated
    pfam08356
    Location:198 → 282
    EF_assoc_2; EF hand associated

  3. XM_017024825.1 → XP_016880314.1  mitochondrial Rho GTPase 1 isoform X11

    UniProtKB/TrEMBL
    H7BXZ6
    Conserved Domains (4) summary
    cd01892
    Location:394 → 571
    Miro2; Mitochondrial Rho family 2 (Miro2), C-terminal
    pfam08355
    Location:320 → 388
    EF_assoc_1; EF hand associated
    pfam08356
    Location:200 → 280
    EF_assoc_2; EF hand associated
    cl21455
    Location:1 → 148
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  4. XM_017024824.1 → XP_016880313.1  mitochondrial Rho GTPase 1 isoform X10

  5. XM_011524971.2 → XP_011523273.2  mitochondrial Rho GTPase 1 isoform X3

  6. XM_017024823.1 → XP_016880312.1  mitochondrial Rho GTPase 1 isoform X9

  7. XM_011524976.2 → XP_011523278.2  mitochondrial Rho GTPase 1 isoform X12

    Related
    ENSP00000462669.1, ENST00000581094.5

  8. XM_017024821.1 → XP_016880310.1  mitochondrial Rho GTPase 1 isoform X7

  9. XM_011524973.2 → XP_011523275.2  mitochondrial Rho GTPase 1 isoform X4

  10. XM_024450827.1 → XP_024306595.1  mitochondrial Rho GTPase 1 isoform X2

    Conserved Domains (4) summary
    cd01892
    Location:394 → 559
    Miro2; Mitochondrial Rho family 2 (Miro2), C-terminal
    cd01893
    Location:1 → 148
    Miro1; Mitochondrial Rho family 1 (Miro1), N-terminal
    pfam08355
    Location:320 → 388
    EF_assoc_1; EF hand associated
    pfam08356
    Location:198 → 282
    EF_assoc_2; EF hand associated

  11. XM_017024822.1 → XP_016880311.1  mitochondrial Rho GTPase 1 isoform X8

  12. XM_011524969.2 → XP_011523271.1  mitochondrial Rho GTPase 1 isoform X1

    Conserved Domains (4) summary
    cd01892
    Location:394 → 559
    Miro2; Mitochondrial Rho family 2 (Miro2), C-terminal
    pfam08355
    Location:320 → 388
    EF_assoc_1; EF hand associated
    pfam08356
    Location:200 → 280
    EF_assoc_2; EF hand associated
    cl21455
    Location:1 → 148
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  13. XM_017024820.1 → XP_016880309.1  mitochondrial Rho GTPase 1 isoform X6

RNA

  1. XR_001752556.1 RNA Sequence

  2. XR_934499.2 RNA Sequence

    Related
    ENST00000578205.5

  3. XR_001752555.1 RNA Sequence

  4. XR_001752554.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IXI2.2 GenPept UniProtKB/Swiss-Prot:Q8IXI2

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