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

    Gene ID: 55288, updated on 30-Oct-2024

    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 several processes, including mitochondrial outer membrane permeabilization; mitochondrion transport along microtubule; and regulation of mitochondrion organization. Located in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 9.0), thyroid (RPKM 8.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RHOT1 in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (32142502..32225727)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (33088266..33171497)
    RS_2024_09 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 PRS2 recombination region Neighboring gene uncharacterized LOC124903973 Neighboring gene uncharacterized LOC102724625 Neighboring gene NF1-REPc PRS3 recombination region Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:30428007-30428812 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:30437320-30438144 Neighboring gene WD repeat domain 45B pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12025 Neighboring gene uncharacterized LOC105371730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12026 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8419 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:30483220-30483763 Neighboring gene arginine-fifty homeobox pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr17:30507190-30507714 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:30554572-30555278 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:30555279-30555983 Neighboring gene Sharpr-MPRA regulatory region 9359 Neighboring gene ubiquitin like 5 pseudogene 2 Neighboring gene uncharacterized LOC124903979

    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 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. Miro: A molecular switch at the center of mitochondrial regulation. Eberhardt EL, et al. Protein Sci, 2020 Jun. PMID 32056317, Free PMC Article
    2. 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
    3. New splicing variants of mitochondrial Rho GTPase-1 (Miro1) transport peroxisomes. Okumoto K, et al. J Cell Biol, 2018 Feb 5. PMID 29222186, Free PMC Article
    4. 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
    5. 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

    See all (102) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HMGB1 promotes mitochondrial transfer between hepatocellular carcinoma cells through RHOT1 and RAC1 under hypoxia.
      Title: HMGB1 promotes mitochondrial transfer between hepatocellular carcinoma cells through RHOT1 and RAC1 under hypoxia.
    2. Interaction between the mitochondrial adaptor MIRO and the motor adaptor TRAK.
      Title: Interaction between the mitochondrial adaptor MIRO and the motor adaptor TRAK.
    3. Hsa_circ_0005230 is up-regulated and promotes gastric cancer cell invasion and migration via regulating the miR-1299/RHOT1 axis.
      Title: Hsa_circ_0005230 is up-regulated and promotes gastric cancer cell invasion and migration via regulating the miR-1299/RHOT1 axis.
    4. Miro1 functions as an inhibitory regulator of MFN at elevated mitochondrial Ca(2+) levels.
      Title: Miro1 functions as an inhibitory regulator of MFN at elevated mitochondrial Ca(2+) levels.
    5. Circular RNA circRHOT1 contributes to pathogenesis of non-small cell lung cancer by epigenetically enhancing C-MYC expression through recruiting KAT5.
      Title: Circular RNA circRHOT1 contributes to pathogenesis of non-small cell lung cancer by epigenetically enhancing C-MYC expression through recruiting KAT5.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. Miro: A molecular switch at the center of mitochondrial regulation.
      Title: Miro: A molecular switch at the center of mitochondrial regulation.
    Submit: New GeneRIF Correction See all GeneRIFs (35)

    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

    Pathways from PubChem

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    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
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    involved_in mitochondrion transport along microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrion transport along microtubule IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in small GTPase-mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane HDA PubMed 
    is_active_in mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    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/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
      A4FVB6, A6NFV0, B4DG48, J9JIH9, Q6NUR3, Q6P9F8, Q6PJG1, Q6YMW8, Q86UB0, Q8IW28, Q8IXI2, Q8IXJ7, Q9H067, Q9H9N8, Q9NUZ2
      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: 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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      32142502..32225727
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436364.1 → XP_047292320.1  mitochondrial Rho GTPase 1 isoform X13

    2. XM_047436361.1 → XP_047292317.1  mitochondrial Rho GTPase 1 isoform X11

    3. XM_011524973.3 → XP_011523275.2  mitochondrial Rho GTPase 1 isoform X7

    4. XM_047436362.1 → XP_047292318.1  mitochondrial Rho GTPase 1 isoform X12

    5. XM_047436353.1 → XP_047292309.1  mitochondrial Rho GTPase 1 isoform X1

    6. XM_047436355.1 → XP_047292311.1  mitochondrial Rho GTPase 1 isoform X4

    7. XM_047436359.1 → XP_047292315.1  mitochondrial Rho GTPase 1 isoform X9

    8. XM_047436358.1 → XP_047292314.1  mitochondrial Rho GTPase 1 isoform X8

    9. XM_047436360.1 → XP_047292316.1  mitochondrial Rho GTPase 1 isoform X10

    10. XM_047436363.1 → XP_047292319.1  mitochondrial Rho GTPase 1 isoform X13

    11. XM_047436357.1 → XP_047292313.1  mitochondrial Rho GTPase 1 isoform X6

    12. XM_011524969.3 → XP_011523271.1  mitochondrial Rho GTPase 1 isoform X2

      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_047436356.1 → XP_047292312.1  mitochondrial Rho GTPase 1 isoform X5

    14. XM_047436354.1 → XP_047292310.1  mitochondrial Rho GTPase 1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      33088266..33171497
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316626.1 → XP_054172601.1  mitochondrial Rho GTPase 1 isoform X13

    2. XM_054316623.1 → XP_054172598.1  mitochondrial Rho GTPase 1 isoform X11

    3. XM_054316619.1 → XP_054172594.1  mitochondrial Rho GTPase 1 isoform X7

    4. XM_054316624.1 → XP_054172599.1  mitochondrial Rho GTPase 1 isoform X12

    5. XM_054316613.1 → XP_054172588.1  mitochondrial Rho GTPase 1 isoform X1

    6. XM_054316616.1 → XP_054172591.1  mitochondrial Rho GTPase 1 isoform X4

    7. XM_054316621.1 → XP_054172596.1  mitochondrial Rho GTPase 1 isoform X9

    8. XM_054316620.1 → XP_054172595.1  mitochondrial Rho GTPase 1 isoform X8

    9. XM_054316622.1 → XP_054172597.1  mitochondrial Rho GTPase 1 isoform X10

    10. XM_054316618.1 → XP_054172593.1  mitochondrial Rho GTPase 1 isoform X6

    11. XM_054316625.1 → XP_054172600.1  mitochondrial Rho GTPase 1 isoform X13

    12. XM_054316614.1 → XP_054172589.1  mitochondrial Rho GTPase 1 isoform X2

    13. XM_054316617.1 → XP_054172592.1  mitochondrial Rho GTPase 1 isoform X5

    14. XM_054316615.1 → XP_054172590.1  mitochondrial Rho GTPase 1 isoform X3

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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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