Q8IXI2 (MIRO1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 99.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Mitochondrial Rho GTPase 1 Short name=MIRO-1 Short name=hMiro-1 EC=3.6.5.- Alternative name(s): Rac-GTP-binding protein-like protein Ras homolog gene family member T1 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 618 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Mitochondrial GTPase involved in mitochondrial trafficking. Probably involved in control of anterograde transport of mitochondria and their subcellular distribution. Ref.2 Ref.9 |
| Subunit structure | Interacts with the kinesin-binding proteins TRAK1/OIP106 and TRAK2/GRIF1, forming a link between mitochondria and the trafficking apparatus of the microtubules. Ref.9 |
| Subcellular location | Mitochondrion outer membrane; Single-pass type IV membrane protein. Note: Colocalizes with MGARP and RHOT2 at the mitochondria. Ref.2 Ref.10 |
| Tissue specificity | Ubiquitously expressed. Expressed at high level in heart and skeletal muscle. Ref.2 |
| Sequence similarities | Belongs to the mitochondrial Rho GTPase family. Contains 2 EF-hand domains. Contains 2 Miro domains. |
| Sequence caution | The sequence AAH41114.1 differs from that shown. Reason: Erroneous initiation. The sequence AAH68463.1 differs from that shown. Reason: Erroneous initiation. The sequence BAA91969.1 differs from that shown. Reason: Erroneous initiation. The sequence BAB14185.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| KIF5C | O60282 | 2 | EBI-1396430,EBI-717170 | |
| Kif5c | P56536 | 5 | EBI-1396430,EBI-994504 | From a different organism. |
| PARK2 | O60260 | 3 | EBI-1396430,EBI-716346 | |
| PINK1 | Q9BXM7 | 3 | EBI-1396430,EBI-2846068 | |
| TRAK1 | Q9UPV9 | 3 | EBI-1396430,EBI-1105048 |
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8IXI2-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q8IXI2-2) The sequence of this isoform differs from the canonical sequence as follows: 580-580: P → PEDHYRDRLSRDMGHTDRIENLRKIWVFLKTAL | ||||||
| Isoform 3 (identifier: Q8IXI2-3) The sequence of this isoform differs from the canonical sequence as follows: 580-580: P → PEDHYRDRLSRDMGHTDRIENLRKIWVFLKTAFHARLRCMCTCNRCTFCICQNFLNSDLLQSVKNKIFTAVLNR | ||||||
| Isoform 4 (identifier: Q8IXI2-4) The sequence of this isoform differs from the canonical sequence as follows: 581-618: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q8IXI2-5) The sequence of this isoform differs from the canonical sequence as follows: 582-618: VTQADLKSST...AMYKALLKQR → ARLRCMCTCN...TAVLNRIISA | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 6 (identifier: Q8IXI2-6) The sequence of this isoform differs from the canonical sequence as follows: 224-247: QALEDVKNVVRKHISDGVADSGLT → RFGFEQVLVLLFLQFWALLCTKHY 248-618: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 618 | 618 | Mitochondrial Rho GTPase 1 | PRO_0000239313 | |||||
Regions | |||||||||
| Topological domain | 1 – 592 | 592 | Mitochondrial intermembrane Potential | ||||||
| Transmembrane | 593 – 615 | 23 | Helical; Anchor for type IV membrane protein; Potential | ||||||
| Topological domain | 616 – 618 | 3 | Cytoplasmic Potential | ||||||
| Domain | 1 – 177 | 177 | Miro 1 | ||||||
| Domain | 184 – 219 | 36 | EF-hand 1 | ||||||
| Domain | 304 – 339 | 36 | EF-hand 2 | ||||||
| Domain | 412 – 561 | 150 | Miro 2 | ||||||
| Nucleotide binding | 11 – 18 | 8 | GTP 1 | ||||||
| Nucleotide binding | 57 – 61 | 5 | GTP 1 Potential | ||||||
| Nucleotide binding | 118 – 121 | 4 | GTP 1 Potential | ||||||
| Calcium binding | 197 – 208 | 12 | 1 Probable | ||||||
| Calcium binding | 317 – 328 | 12 | 2 Probable | ||||||
| Nucleotide binding | 425 – 432 | 8 | GTP 2 | ||||||
| Nucleotide binding | 463 – 467 | 5 | GTP 2 Potential | ||||||
| Nucleotide binding | 527 – 530 | 4 | GTP 2 Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 224 – 247 | 24 | QALED…DSGLT → RFGFEQVLVLLFLQFWALLC TKHY in isoform 6. | VSP_019153 | |||||
| Alternative sequence | 248 – 618 | 371 | Missing in isoform 6. | VSP_019154 | |||||
| Alternative sequence | 580 | 1 | P → PEDHYRDRLSRDMGHTDRIE NLRKIWVFLKTAL in isoform 2. | VSP_019155 | |||||
| Alternative sequence | 580 | 1 | P → PEDHYRDRLSRDMGHTDRIE NLRKIWVFLKTAFHARLRCM CTCNRCTFCICQNFLNSDLL QSVKNKIFTAVLNR in isoform 3. | VSP_019156 | |||||
| Alternative sequence | 581 – 618 | 38 | Missing in isoform 4. | VSP_019157 | |||||
| Alternative sequence | 582 – 618 | 37 | VTQAD…LLKQR → ARLRCMCTCNRCTFCICQNF LNSDLLQSVKNKIFTAVLNR IISA in isoform 5. | VSP_019158 | |||||
Experimental info | |||||||||
| Mutagenesis | 13 | 1 | P → V: Causes constitutive activation inducing an aggregation of the mitochondrial network. Ref.2 Ref.8 Ref.9 | ||||||
| Mutagenesis | 18 | 1 | T → N: Causes constitutive inactivation. Ref.2 Ref.9 | ||||||
| Mutagenesis | 208 | 1 | E → K: Abolishes the formation of thread-like mitochondria. Ref.9 | ||||||
| Mutagenesis | 328 | 1 | E → K: Abolishes the formation of thread-like mitochondria. Ref.9 | ||||||
| Mutagenesis | 427 | 1 | K → V: No effect. Ref.9 | ||||||
| Mutagenesis | 432 | 1 | S → N: No effect. Ref.9 | ||||||
| Sequence conflict | 75 | 1 | A → V in AAM15734. Ref.3 | ||||||
| Sequence conflict | 246 | 1 | L → F in AAH60781. Ref.7 | ||||||
| Sequence conflict | 246 | 1 | L → F in BAA91969. Ref.5 | ||||||
| Sequence conflict | 331 | 1 | D → G in AAH60781. Ref.7 | ||||||
| Sequence conflict | 587 | 1 | L → P in CAD56956. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse." Jenne D.E., Tinschert S., Dorschner M.O., Hameister H., Stephens K., Kehrer-Sawatzki H. Genes Chromosomes Cancer 37:111-120(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). |
| [2] | "Atypical Rho GTPases have roles in mitochondrial homeostasis and apoptosis." Fransson A., Ruusala A., Aspenstroem P. J. Biol. Chem. 278:6495-6502(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF PRO-13 AND THR-18. |
| [3] | "Cloning a novel Rac-GTP binding protein-like gene from human fetal brain." Zeng L., Xie Y., Mao Y. Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). Tissue: Fetal brain. |
| [4] | "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. Poustka A.Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Uterus. |
| [5] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 134-618 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 157-618 (ISOFORM 3). Tissue: Amygdala, Placenta and Teratocarcinoma. |
| [6] | "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. Nusbaum C.Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 18-618 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 90-550 (ISOFORM 6). Tissue: Brain, Lung, Testis and Uterus. |
| [8] | "Rho GTPases have diverse effects on the organization of the actin filament system." Aspenstroem P., Fransson A., Saras J. Biochem. J. 377:327-337(2004) [PubMed] [Europe PMC] [Abstract] Cited for: MUTAGENESIS OF PRO-13. |
| [9] | "The atypical Rho GTPases Miro-1 and Miro-2 have essential roles in mitochondrial trafficking." Fransson S., Ruusala A., Aspenstroem P. Biochem. Biophys. Res. Commun. 344:500-510(2006) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH TRAK1 AND TRAK2, MUTAGENESIS OF PRO-13; THR-18; GLU-208; GLU-328; LYS-427 AND SER-432. |
| [10] | "HUMMR, a hypoxia- and HIF-1alpha-inducible protein, alters mitochondrial distribution and transport." Li Y., Lim S., Hoffman D., Aspenstrom P., Federoff H.J., Rempe D.A. J. Cell Biol. 185:1065-1081(2009) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| [11] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AJ496730 mRNA. Translation: CAD43139.1. AJ517412 mRNA. Translation: CAD56956.1. AY094972 mRNA. Translation: AAM15734.1. AL136929 mRNA. Translation: CAB66863.1. AK001902 mRNA. Translation: BAA91969.1. Different initiation. AK022695 mRNA. Translation: BAB14185.1. Different initiation. AK294407 mRNA. Translation: BAG57659.1. AC116407 Genomic DNA. No translation available. BC015698 mRNA. Translation: AAH15698.1. BC041114 mRNA. Translation: AAH41114.1. Different initiation. BC051818 mRNA. Translation: AAH51818.1. BC060781 mRNA. Translation: AAH60781.2. BC068463 mRNA. Translation: AAH68463.1. Different initiation. BC125104 mRNA. Translation: AAI25105.1. BC125105 mRNA. Translation: AAI25106.1. |
| IPI | IPI00217536. IPI00432452. IPI00651681. IPI00759627. IPI00759714. IPI00759775. |
| RefSeq | NP_001028738.1. NM_001033566.1. NP_001028740.1. NM_001033568.1. NP_060777.3. NM_018307.3. |
| UniGene | Hs.655325. |
3D structure databases | |
| ProteinModelPortal | Q8IXI2. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8IXI2. 8 interactions. |
PTM databases | |
| PhosphoSite | Q8IXI2. |
Polymorphism databases | |
| DMDM | 108860796. |
Proteomic databases | |
| PaxDb | Q8IXI2. |
| PRIDE | Q8IXI2. |
Protocols and materials databases | |
| DNASU | 55288. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000333942; ENSP00000334724; ENSG00000126858. ENST00000358365; ENSP00000351132; ENSG00000126858. ENST00000394692; ENSP00000378184; ENSG00000126858. ENST00000581031; ENSP00000464094; ENSG00000126858. ENST00000581094; ENSP00000462669; ENSG00000126858. |
| GeneID | 55288. |
| KEGG | hsa:55288. |
| UCSC | uc002hgv.3. human. uc002hgw.3. human. uc002hgy.3. human. uc002hha.3. human. |
Organism-specific databases | |
| CTD | 55288. |
| GeneCards | GC17P030470. |
| HGNC | HGNC:21168. RHOT1. |
| HPA | HPA010687. |
| MIM | 613888. gene. |
| neXtProt | NX_Q8IXI2. |
| PharmGKB | PA134906318. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG1100. |
| HOVERGEN | HBG079778. |
| KO | K07870. |
| OMA | YDVSNPK. |
| OrthoDB | EOG4SXNC2. |
Enzyme and pathway databases | |
| Reactome | REACT_111102. Signal Transduction. |
Gene expression databases | |
| ArrayExpress | Q8IXI2. |
| Bgee | Q8IXI2. |
| CleanEx | HS_RHOT1. |
| Genevestigator | Q8IXI2. |
| GermOnline | ENSG00000126858. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.10.238.10. 2 hits. |
| InterPro | IPR011992. EF-hand-like_dom. IPR018247. EF_Hand_1_Ca_BS. IPR013566. EF_hand_assoc_1. IPR013567. EF_hand_assoc_2. IPR002048. EF_hand_dom. IPR020860. MIRO. IPR013684. MIRO-like. IPR005225. Small_GTP-bd_dom. IPR001806. Small_GTPase. IPR021181. Small_GTPase_Miro. [Graphical view] |
| PANTHER | PTHR24072:SF69. PTHR24072:SF69. 1 hit. |
| Pfam | PF08355. EF_assoc_1. 1 hit. PF08356. EF_assoc_2. 1 hit. PF13405. EF_hand_4. 1 hit. PF08477. Miro. 1 hit. PF00071. Ras. 1 hit. [Graphical view] |
| PIRSF | PIRSF037488. Mt_Rho_GTPase. 1 hit. |
| PRINTS | PR00449. RASTRNSFRMNG. |
| SMART | SM00054. EFh. 2 hits. [Graphical view] |
| TIGRFAMs | TIGR00231. small_GTP. 1 hit. |
| PROSITE | PS00018. EF_HAND_1. 1 hit. PS50222. EF_HAND_2. 2 hits. PS51423. MIRO. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | RHOT1. human. |
| GenomeRNAi | 55288. |
| NextBio | 59462. |
| SOURCE | Search... |
Entry information
| Entry name | MIRO1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8IXI2 Secondary accession number(s): A4FVB6 Q9NUZ2 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 17 Human chromosome 17: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
