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. | 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. |
3. | 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. |
4. | 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. |
5. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
6. | Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t-complex and under-representation on the X chromosome. | Ko MS, etal., Hum Mol Genet 1998 Nov;7(12):1967-78. |
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. | MGDs mouse GO annotations | MGD data from the GO Consortium |
9. | Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. | Mootha VK, etal., Cell 2003 Nov 26;115(5):629-40. |
10. | Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. | Okazaki N, etal., DNA Res 2003 Feb 28;10(1):35-48. |
11. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
12. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
13. | 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. |
14. | 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. |
15. | 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:8858343 | PMID:8889548 | PMID:10349636 | PMID:10725249 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:12477932 | PMID:12904583 | PMID:14610273 | PMID:14681479 | PMID:15102471 |
PMID:15782199 | PMID:16141072 | PMID:16141073 | PMID:16822835 | PMID:17208939 | PMID:17967808 | PMID:18614015 | PMID:18669640 | PMID:18799693 | PMID:19578372 | PMID:20531390 | PMID:21267068 |
PMID:21677750 | PMID:21873635 | PMID:21984432 | PMID:22794259 | PMID:23303939 | PMID:23472196 | PMID:24457600 | PMID:25737280 | PMID:27706848 | PMID:28378742 | PMID:28703803 | PMID:29395920 |
PMID:30457570 | PMID:30562941 | PMID:32325033 | PMID:32724135 | PMID:35025629 | PMID:35449600 | PMID:38093274 |
Tomm70a (Mus musculus - house mouse) |
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TOMM70 (Homo sapiens - human) |
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Tomm70 (Rattus norvegicus - Norway rat) |
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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 Tomm70a
991 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 |
Tomm70a |
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RH125842 |
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RefSeq Transcripts | NM_138599 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AC154625 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK011763 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK012084 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK028543 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK083586 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK122356 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK145458 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK150429 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK161720 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK169809 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK181660 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK192263 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK192584 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK195397 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK196165 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK200515 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK202736 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK207500 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK217112 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC025450 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC057096 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC139420 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC139421 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466521 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000166897 ⟹ ENSMUSP00000129186 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000231298 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000231901 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_138599 ⟹ NP_613065 | ||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_613065 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAH57096 | (Get FASTA) | NCBI Sequence Viewer |
AAI39421 | (Get FASTA) | NCBI Sequence Viewer | |
AAI39422 | (Get FASTA) | NCBI Sequence Viewer | |
BAB28018 | (Get FASTA) | NCBI Sequence Viewer | |
BAC38960 | (Get FASTA) | NCBI Sequence Viewer | |
BAC65638 | (Get FASTA) | NCBI Sequence Viewer | |
BAE26448 | (Get FASTA) | NCBI Sequence Viewer | |
BAE29552 | (Get FASTA) | NCBI Sequence Viewer | |
BAE36547 | (Get FASTA) | NCBI Sequence Viewer | |
EDK98167 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000129186 | ||
ENSMUSP00000129186.2 | |||
GenBank Protein | Q9CZW5 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_613065 ⟸ NM_138599 |
- UniProtKB: | Q8BNI6 (UniProtKB/Swiss-Prot), Q9CZW5 (UniProtKB/Swiss-Prot), Q3TSX8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSMUSP00000129186 ⟸ ENSMUST00000166897 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9CZW5-F1-model_v2 | AlphaFold | Q9CZW5 | 1-611 | view protein structure |
RGD ID: | 6827581 | ||||||||
Promoter ID: | MM_KWN:21273 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day3, 3T3L1_Day4, 3T3L1_Day6, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6, Spleen | ||||||||
Transcripts: | ENSMUST00000023433 | ||||||||
Position: |
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RGD ID: | 8686398 | ||||||||
Promoter ID: | EPDNEW_M21229 | ||||||||
Type: | initiation region | ||||||||
Name: | Tomm70a_1 | ||||||||
Description: | Mus musculus translocase of outer mitochondrial membrane 70A, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:106295 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000022752 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENSMUST00000166897 | ENTREZGENE |
ENSMUST00000166897.3 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.25.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
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 | mmu:28185 | UniProtKB/Swiss-Prot |
MGD | MGI:106295 | ENTREZGENE |
NCBI Gene | 28185 | 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 | Tomm70a | PhenoGen |
PROSITE | TPR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TPR_REGION | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | TPR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | Protein prenylyltransferase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF48452 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | Q3TSX8 | ENTREZGENE, UniProtKB/TrEMBL |
Q80TT4_MOUSE | UniProtKB/TrEMBL | |
Q8BNI6 | ENTREZGENE | |
Q9CZW5 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | Q8BNI6 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2018-03-27 | Tomm70a | translocase of outer mitochondrial membrane 70A | translocase of outer mitochondrial membrane 70 homolog A (yeast) | Symbol and/or name change | 5135510 | APPROVED |