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

Gene ID: 55288, updated on 14-Sep-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
109.20190905 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 Functions

What'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 details...Open this link in a new tab

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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