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Gene Gene information from NCBI Gene database.
Entrez ID 55288
Gene name Ras homolog family member T1
Gene symbol RHOT1
Synonyms (NCBI Gene)
ARHT1MIRO-1MIRO1
Chromosome 17
Chromosome location 17q11.2
miRNA miRNA information provided by mirtarbase database.
222 Show/Hide all (222)
miRTarBase ID miRNA Experiments Reference
MIRT000900 hsa-miR-15a-5p Microarray 18362358
MIRT000899 hsa-miR-16-5p Microarray 18362358
MIRT018247 hsa-miR-335-5p Microarray 18185580
MIRT036811 hsa-miR-877-3p CLASH 23622248
MIRT438490 hsa-miR-139-5p Luciferase reporter assay 24158791
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34 Show/Hide all (34)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IDA 27605430, 33132189
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IDA 30513825
GO:0003924 Function GTPase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613888 21168 ENSG00000126858
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IXI2
Protein 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)
Protein function Atypical mitochondrial nucleoside-triphosphatase (NTPase) involved in mitochondrial trafficking (PubMed:12482879, PubMed:16630562, PubMed:22396657, PubMed:30513825). Probably involved in control of anterograde transport of mitochondria and their
PDB 5KSO , 5KSP , 5KSY , 5KSZ , 5KTY , 5KU1 , 6D71
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 6 → 168 Ras family Domain
PF08355 EF_assoc_1 341 → 413 EF hand associated Family
PF08356 EF_assoc_2 219 → 305 EF hand associated Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Expressed at high level in heart and skeletal muscle. {ECO:0000269|PubMed:12482879}.
Sequence
MKKDVRILLVGEPRVGKTSLIMSLVSEEFPEEVPPRAEEITIPADVTPERVPTHIVDYSE
AEQSDEQLHQEISQANVICIVYAVNNKHSIDKVTSRWIPLINERTDKDSRLPLILVGNKS
DLVEYSSMETILPIMNQYTEIETCVECSAKNLKNISELFYYAQKAVLH
PTGPLYCPEEKE
MKPACIKALTRIFKISDQDNDGTLNDAELNFFQRICFNTPLAPQALEDVKNVVRKHISDG
VADSGLTLKGFLFLHTLFIQRGRHETTWTVLRRFGYDDDLDLTPEYLFPLLKIPPDCTTE
LNHHA
YLFLQSTFDKHDLDRDCALSPDELKDLFKVFPYIPWGPDVNNTVCTNERGWITYQ
GFLSQWTLTTYLDVQRCLEYLGYLGYSILTEQESQASAVTVTRDKKIDLQKKQ
TQRNVFR
CNVIGVKNCGKSGVLQALLGRNLMRQKKIREDHKSYYAINTVYVYGQEKYLLLHDISESE
FLTEAEIICDVVCLVYDVSNPKSFEYCARIFKQHFMDSRIPCLIVAAKSDLHEVKQEYSI
SPTDFCRKHKMPPPQAFTCNTADAPSKDIFVKLTTMAMYPHVTQADLKSSTFWLRASFGA
TVFAVLGFAMYKALLKQR
Sequence length 618
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Mitophagy - animal Rho GTPase cycle
  Ub-specific processing proteases
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
CATARACT — GWAS catalog 34127677
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NASOPHARYNGEAL NEOPLASM — GWAS catalog 24376627
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY — GWAS catalog 23251661
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER — GWAS catalog 38637617
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (20)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 22258555, 28973175
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33374314 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 29562677
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 37587156 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 29207597
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 29207597
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 29207597
★★★★★
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy BEFREE 29365285
★★★★★
★☆☆☆☆
Found in Text Mining only
Hyperglycemia Hyperglycemia BEFREE 29207597
★★★★★
★☆☆☆☆
Found in Text Mining only
Lung Diseases Lung disease Pubtator 31593750 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only