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

    Gene ID: 55288, updated on 17-Jun-2019

    Summary

    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
    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
    Expression
    Ubiquitous expression in adrenal (RPKM 9.0), thyroid (RPKM 8.7) and 25 other tissues See more
    Orthologs

    Genomic context

    See RHOT1 in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (32142454..32253374)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (30469473..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

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

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

    Pathways from BioSystems

    • Deubiquitination, organism-specific biosystem (from REACTOME)
      Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Mitophagy - animal, organism-specific biosystem (from KEGG)
      Mitophagy - animal, organism-specific biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...
    • Mitophagy - animal, conserved biosystem (from KEGG)
      Mitophagy - animal, conserved biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
      Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
    • Ub-specific processing proteases, organism-specific biosystem (from REACTOME)
      Ub-specific processing proteases, organism-specific biosystemUb-specific processing proteases (USPs) are the largest of the DUB families with more than 50 members in humans. The USP catalytic domain varies considerably in size and consists of six conserved mo...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ11040, FLJ12633

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    mitochondrial Rho GTPase 1
    Names
    mitochondrial Rho (MIRO) GTPase 1
    rac-GTP binding protein-like protein
    ras homolog gene family, member T1
    NP_001028738.1
    NP_001028739.2
    NP_001028740.1
    NP_001275683.1
    NP_001275684.1
    NP_001275687.1
    NP_060777.3
    XP_011523271.1
    XP_011523273.2
    XP_011523275.2
    XP_011523277.1
    XP_011523278.2
    XP_016880308.1
    XP_016880309.1
    XP_016880310.1
    XP_016880311.1
    XP_016880312.1
    XP_016880313.1
    XP_016880314.1
    XP_024306595.1

    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.

    mRNA and Protein(s)

    1. NM_001033566.2NP_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, ENST00000545287.6
      Conserved Domains (5) summary
      smart00174
      Location:7169
      RHO; Rho (Ras homology) subfamily of Ras-like small GTPases
      cd01892
      Location:415581
      Miro2; Mitochondrial Rho family 2 (Miro2), C-terminal
      cd01893
      Location:3169
      Miro1; Mitochondrial Rho family 1 (Miro1), N-terminal
      pfam08355
      Location:341409
      EF_assoc_1; EF hand associated
      pfam08356
      Location:221301
      EF_assoc_2; EF hand associated
    2. NM_001033567.2NP_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:288465
      Miro2; Mitochondrial Rho family 2 (Miro2), C-terminal
      pfam08355
      Location:214282
      EF_assoc_1; EF hand associated
      pfam08356
      Location:94174
      EF_assoc_2; EF hand associated
      cl21455
      Location:142
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    3. NM_001033568.2NP_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)
      AA772711, AJ496730, BC060781
      Consensus CDS
      CCDS32610.1
      UniProtKB/Swiss-Prot
      Q8IXI2
      Related
      ENSP00000351132.3, ENST00000358365.7
      Conserved Domains (5) summary
      smart00174
      Location:7169
      RHO; Rho (Ras homology) subfamily of Ras-like small GTPases
      cd01892
      Location:415580
      Miro2; Mitochondrial Rho family 2 (Miro2), C-terminal
      cd01893
      Location:3169
      Miro1; Mitochondrial Rho family 1 (Miro1), N-terminal
      pfam08355
      Location:341409
      EF_assoc_1; EF hand associated
      pfam08356
      Location:221301
      EF_assoc_2; EF hand associated
    4. NM_001288754.1NP_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)
      AA772711, AK294407, AY094972, BC060781, BC110895
      Consensus CDS
      CCDS74030.1
      UniProtKB/Swiss-Prot
      Q8IXI2
      Related
      ENSP00000378184.2, ENST00000394692.6
      Conserved Domains (5) summary
      smart00174
      Location:7169
      RHO; Rho (Ras homology) subfamily of Ras-like small GTPases
      cd01892
      Location:415580
      Miro2; Mitochondrial Rho family 2 (Miro2), C-terminal
      cd01893
      Location:3169
      Miro1; Mitochondrial Rho family 1 (Miro1), N-terminal
      pfam08355
      Location:341409
      EF_assoc_1; EF hand associated
      pfam08356
      Location:221301
      EF_assoc_2; EF hand associated
    5. NM_001288755.1NP_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:394571
      Miro2; Mitochondrial Rho family 2 (Miro2), C-terminal
      pfam08355
      Location:320388
      EF_assoc_1; EF hand associated
      pfam08356
      Location:200280
      EF_assoc_2; EF hand associated
      cl21455
      Location:1148
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    6. NM_001288758.1NP_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)
      AA772711, BC060781, BC110895
      UniProtKB/Swiss-Prot
      Q8IXI2
      Conserved Domains (4) summary
      cd01892
      Location:288453
      Miro2; Mitochondrial Rho family 2 (Miro2), C-terminal
      pfam08355
      Location:214282
      EF_assoc_1; EF hand associated
      pfam08356
      Location:94174
      EF_assoc_2; EF hand associated
      cl21455
      Location:142
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    7. NM_018307.4NP_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:7169
      RHO; Rho (Ras homology) subfamily of Ras-like small GTPases
      cd01892
      Location:415592
      Miro2; Mitochondrial Rho family 2 (Miro2), C-terminal
      cd01893
      Location:3169
      Miro1; Mitochondrial Rho family 1 (Miro1), N-terminal
      pfam08355
      Location:341409
      EF_assoc_1; EF hand associated
      pfam08356
      Location:221301
      EF_assoc_2; EF hand associated

    RNA

    1. NR_110083.1 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 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_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      32142454..32253374
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

    2. XM_011524975.3XP_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:394559
      Miro2; Mitochondrial Rho family 2 (Miro2), C-terminal
      cd01893
      Location:1148
      Miro1; Mitochondrial Rho family 1 (Miro1), N-terminal
      pfam08355
      Location:320388
      EF_assoc_1; EF hand associated
      pfam08356
      Location:198282
      EF_assoc_2; EF hand associated
    3. XM_017024825.1XP_016880314.1  mitochondrial Rho GTPase 1 isoform X11

      UniProtKB/TrEMBL
      H7BXZ6
      Conserved Domains (4) summary
      cd01892
      Location:394571
      Miro2; Mitochondrial Rho family 2 (Miro2), C-terminal
      pfam08355
      Location:320388
      EF_assoc_1; EF hand associated
      pfam08356
      Location:200280
      EF_assoc_2; EF hand associated
      cl21455
      Location:1148
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    4. XM_017024824.1XP_016880313.1  mitochondrial Rho GTPase 1 isoform X10

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

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

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

      Related
      ENSP00000462669.1, ENST00000581094.5
    8. XM_017024821.1XP_016880310.1  mitochondrial Rho GTPase 1 isoform X7

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

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

      Conserved Domains (4) summary
      cd01892
      Location:394559
      Miro2; Mitochondrial Rho family 2 (Miro2), C-terminal
      cd01893
      Location:1148
      Miro1; Mitochondrial Rho family 1 (Miro1), N-terminal
      pfam08355
      Location:320388
      EF_assoc_1; EF hand associated
      pfam08356
      Location:198282
      EF_assoc_2; EF hand associated
    11. XM_017024822.1XP_016880311.1  mitochondrial Rho GTPase 1 isoform X8

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

      Conserved Domains (4) summary
      cd01892
      Location:394559
      Miro2; Mitochondrial Rho family 2 (Miro2), C-terminal
      pfam08355
      Location:320388
      EF_assoc_1; EF hand associated
      pfam08356
      Location:200280
      EF_assoc_2; EF hand associated
      cl21455
      Location:1148
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    13. XM_017024820.1XP_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

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