Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | TOMM70 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | TOMM70 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | Identification of a mammalian homologue of the fungal Tom70 mitochondrial precursor protein import receptor as a thyroid hormone-regulated gene in specific brain regions. | Alvarez-Dolado M, etal., J Neurochem. 1999 Dec;73(6):2240-9. |
2. | Mitochondrial targeting of cytochrome P450 proteins containing NH2-terminal chimeric signals involves an unusual TOM20/TOM22 bypass mechanism. | Anandatheerthavarada HK, etal., J Biol Chem. 2009 Jun 19;284(25):17352-63. doi: 10.1074/jbc.M109.007492. Epub 2009 Apr 28. |
3. | Biogenesis of mitochondrial outer membrane proteins, problems and diseases. | Ellenrieder L, etal., Biol Chem. 2015 Oct 1;396(11):1199-213. doi: 10.1515/hsz-2015-0170. |
4. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
5. | Phosphoproteome mapping of cardiomyocyte mitochondria in a rat model of heart failure. | Giorgianni F, etal., Mol Cell Biochem. 2014 Apr;389(1-2):159-67. doi: 10.1007/s11010-013-1937-7. Epub 2014 Jan 7. |
6. | Assembly of beta-barrel proteins in the mitochondrial outer membrane. | Hohr AI, etal., Biochim Biophys Acta. 2015 Jan;1853(1):74-88. doi: 10.1016/j.bbamcr.2014.10.006. Epub 2014 Oct 8. |
7. | Tom70 serves as a molecular switch to determine pathological cardiac hypertrophy. | Li J, etal., Cell Res. 2014 Aug;24(8):977-93. doi: 10.1038/cr.2014.94. Epub 2014 Jul 15. |
8. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
9. | GOA pipeline | RGD automated data pipeline |
10. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
11. | Impaired transport of mitochondrial transcription factor A (TFAM) and the metabolic memory phenomenon associated with the progression of diabetic retinopathy. | Santos JM and Kowluru RA, Diabetes Metab Res Rev. 2013 Mar;29(3):204-13. doi: 10.1002/dmrr.2384. |
12. | Unlocking the presequence import pathway. | Schulz C, etal., Trends Cell Biol. 2015 May;25(5):265-75. doi: 10.1016/j.tcb.2014.12.001. Epub 2014 Dec 23. |
13. | Characterization of rat TOM70 as a receptor of the preprotein translocase of the mitochondrial outer membrane. | Suzuki H, etal., J Cell Sci 2002 May 1;115(Pt 9):1895-905. |
14. | Cooperation of protein machineries in mitochondrial protein sorting. | Wenz LS, etal., Biochim Biophys Acta. 2015 May;1853(5):1119-29. doi: 10.1016/j.bbamcr.2015.01.012. Epub 2015 Jan 26. |
PMID:12477932 | PMID:14651853 | PMID:18570454 | PMID:18614015 | PMID:19946888 | PMID:20531390 | PMID:22871113 | PMID:23303939 | PMID:27919679 | PMID:31505169 | PMID:32357304 |
Tomm70 (Rattus norvegicus - Norway rat) |
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TOMM70 (Homo sapiens - human) |
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Tomm70a (Mus musculus - house mouse) |
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Tomm70 (Chinchilla lanigera - long-tailed chinchilla) |
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TOMM70 (Pan paniscus - bonobo/pygmy chimpanzee) |
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TOMM70 (Canis lupus familiaris - dog) |
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Tomm70 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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TOMM70 (Sus scrofa - pig) |
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TOMM70 (Chlorocebus sabaeus - green monkey) |
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Tomm70 (Heterocephalus glaber - naked mole-rat) |
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Variants in Tomm70
96 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
BF410432 |
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RH125842 |
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AI029154 |
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Tomm70a |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 3 | 42 | 57 | 41 | 19 | 41 | 8 | 10 | 74 | 35 | 41 | 11 | 8 |
Low | 1 | 1 | |||||||||||
Below cutoff |
RefSeq Transcripts | NM_212519 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_008768643 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008768644 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008768645 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB162856 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AJ243368 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC098640 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH473967 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ228582 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000002238 ⟹ ENSRNOP00000002238 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_212519 ⟹ NP_997684 | ||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008768645 ⟹ XP_008766867 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_997684 | (Get FASTA) | NCBI Sequence Viewer |
XP_008766867 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH98640 | (Get FASTA) | NCBI Sequence Viewer |
BAD11366 | (Get FASTA) | NCBI Sequence Viewer | |
EDM11035 | (Get FASTA) | NCBI Sequence Viewer | |
EDM11036 | (Get FASTA) | NCBI Sequence Viewer | |
EDM11037 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000002238 | ||
ENSRNOP00000002238.6 | |||
ENSRNOP00055018575 | |||
ENSRNOP00060016729 | |||
ENSRNOP00065001883 | |||
GenBank Protein | Q75Q39 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_997684 ⟸ NM_212519 |
- UniProtKB: | Q75Q39 (UniProtKB/Swiss-Prot), A6IQN3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_008766867 ⟸ XM_008768645 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000002238 ⟸ ENSRNOT00000002238 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q75Q39-F1-model_v2 | AlphaFold | Q75Q39 | 1-610 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:1303049 | AgrOrtholog |
BioCyc Gene | G2FUF-21537 | BioCyc |
Ensembl Genes | ENSRNOG00000001640 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ENSRNOG00055013364 | UniProtKB/Swiss-Prot | |
ENSRNOG00060012523 | UniProtKB/Swiss-Prot | |
ENSRNOG00065002088 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENSRNOT00000002238 | ENTREZGENE, UniProtKB/TrEMBL |
ENSRNOT00000002238.7 | UniProtKB/Swiss-Prot | |
ENSRNOT00055022912 | UniProtKB/Swiss-Prot | |
ENSRNOT00060021215 | UniProtKB/Swiss-Prot | |
ENSRNOT00065002743 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.25.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
IMAGE_CLONE | IMAGE:7099109 | IMAGE-MGC_LOAD |
InterPro | TPR-like_helical_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TPR_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TPR_repeat | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:304017 | UniProtKB/Swiss-Prot |
MGC_CLONE | MGC:112570 | IMAGE-MGC_LOAD |
NCBI Gene | 304017 | ENTREZGENE |
PANTHER | MITOCHONDRIAL IMPORT RECEPTOR SUBUNIT TOM70 | UniProtKB/Swiss-Prot |
MITOCHONDRIAL IMPORT RECEPTOR SUBUNIT TOM70 | UniProtKB/Swiss-Prot | |
MITOCHONDRIAL IMPORT RECEPTOR SUBUNIT TOM70 | UniProtKB/TrEMBL | |
MITOCHONDRIAL IMPORT RECEPTOR SUBUNIT TOM70 | UniProtKB/TrEMBL | |
Pfam | TPR_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TPR_6 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TPR_8 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Tomm70 | PhenoGen |
PROSITE | TPR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TPR_REGION | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RatGTEx | ENSRNOG00000001640 | RatGTEx |
ENSRNOG00055013364 | RatGTEx | |
ENSRNOG00060012523 | RatGTEx | |
ENSRNOG00065002088 | RatGTEx | |
SMART | TPR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | Protein prenylyltransferase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF48452 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A6IQN3 | ENTREZGENE, UniProtKB/TrEMBL |
Q75Q39 | ENTREZGENE | |
R9PXR4_RAT | UniProtKB/TrEMBL | |
TOM70_RAT | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-03-01 | Tomm70 | translocase of outer mitochondrial membrane 70 | Tomm70a | translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-12-15 | Tomm70a | translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) | Tomm70a | translocase of outer mitochondrial membrane 70 homolog A (yeast) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2006-03-30 | Tomm70a | translocase of outer mitochondrial membrane 70 homolog A (yeast) | translocase of outer mitochondrial membrane 70 homolog A | Name updated | 1299863 | APPROVED | |
2005-01-06 | Tomm70a | translocase of outer mitochondrial membrane 70 homolog A | TOM70 | TOM70 protein | Symbol and Name updated | 1299863 | APPROVED |