• Gene id: 55288

Gene Summary

• Gene Symbol: RHOT1   Gene   UCSC   Ensembl
• Aliases: ARHT1, MIRO-1, MIRO1
• Gene name: ras homolog family member T1
• Alternate names: mitochondrial Rho GTPase 1, mitochondrial Rho (MIRO) GTPase 1, rac-GTP binding protein-like protein, ras homolog gene family, member T1,
• Gene location: 17q11.2 (32142453: 32253373)     Exons: 28     NC_000017.11
• OMIM: 613888

Protein Summary

• Protein general information: Q8IXI2  
  • Name: Mitochondrial Rho GTPase 1 (MIRO 1) (hMiro 1) (EC 3.6.5. ) (Rac GTP binding protein like protein) (Ras homolog gene family member T1)
  • Length: 618  
  • Mass: 70784
  • Tissue specificity: Ubiquitously expressed. Expressed at high level in heart and skeletal muscle. {ECO
• Sequence:

  MKKDVRILLVGEPRVGKTSLIMSLVSEEFPEEVPPRAEEITIPADVTPERVPTHIVDYSEAEQSDEQLHQEISQA
  NVICIVYAVNNKHSIDKVTSRWIPLINERTDKDSRLPLILVGNKSDLVEYSSMETILPIMNQYTEIETCVECSAK
  NLKNISELFYYAQKAVLHPTGPLYCPEEKEMKPACIKALTRIFKISDQDNDGTLNDAELNFFQRICFNTPLAPQA
  LEDVKNVVRKHISDGVADSGLTLKGFLFLHTLFIQRGRHETTWTVLRRFGYDDDLDLTPEYLFPLLKIPPDCTTE
  LNHHAYLFLQSTFDKHDLDRDCALSPDELKDLFKVFPYIPWGPDVNNTVCTNERGWITYQGFLSQWTLTTYLDVQ
  RCLEYLGYLGYSILTEQESQASAVTVTRDKKIDLQKKQTQRNVFRCNVIGVKNCGKSGVLQALLGRNLMRQKKIR
  EDHKSYYAINTVYVYGQEKYLLLHDISESEFLTEAEIICDVVCLVYDVSNPKSFEYCARIFKQHFMDSRIPCLIV
  AAKSDLHEVKQEYSISPTDFCRKHKMPPPQAFTCNTADAPSKDIFVKLTTMAMYPHVTQADLKSSTFWLRASFGA
  TVFAVLGFAMYKALLKQR

• Structural information:
  • Protein Domains: (1..17-)
    (/note="Miro-1)
    (184..21-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (304..33-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (412..56-)
    (/note="Miro-2")
  • Interpro: IPR011992  IPR018247  IPR013566  IPR013567  IPR002048   IPR021181  IPR020860  IPR027417  IPR005225  IPR001806  
  • Prosite: PS00018 PS50222 PS51423
  • PDB: 5KSO 5KSP 5KSY 5KSZ 5KTY 5KU1 6D71
  • PDBsum: 5KSO 5KSP 5KSY 5KSZ 5KTY 5KU1 6D71
  • DIP: 39114
  • STRING: ENSP00000351132
• Other Databases: GeneCards:  RHOT1  Malacards:  RHOT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	NAS	cellular component
GO:0003924	GTPase activity	IBA	molecular function
GO:0005525	GTP binding	IBA	molecular function
GO:0007005	mitochondrion organization	IBA	biological process
GO:0010821	regulation of mitochondrion organization	IBA	biological process
GO:0005739	mitochondrion	IBA	colocalizes with
GO:0031307	integral component of mitochondrial outer membrane	IBA	cellular component
GO:0047497	mitochondrion transport along microtubule	IBA	biological process
GO:0031307	integral component of mitochondrial outer membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0007005	mitochondrion organization	IEA	biological process
GO:0031307	integral component of mitochondrial outer membrane	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0016579	protein deubiquitination	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1902513	regulation of organelle transport along microtubule	IEA	biological process
GO:0046928	regulation of neurotransmitter secretion	IEA	biological process
GO:0034640	establishment of mitochondrion localization by microtubule attachment	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0031307	integral component of mitochondrial outer membrane	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0047497	mitochondrion transport along microtubule	IMP	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0097345	mitochondrial outer membrane permeabilization	IMP	biological process
GO:0019725	cellular homeostasis	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04137	Mitophagy - animal

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq