Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Bola3 | Mouse | multiple mitochondrial dysfunctions syndrome 2 | | ISO | BOLA3 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Bola3 | Mouse | multiple mitochondrial dysfunctions syndrome 2 | | ISO | BOLA3 (Homo sapiens) | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
2. | Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery. | Maio N and Rouault TA, Biochim Biophys Acta. 2015 Jun;1853(6):1493-512. doi: 10.1016/j.bbamcr.2014.09.009. Epub 2014 Sep 19. |
3. | MGDs mouse GO annotations | MGD data from the GO Consortium |
4. | 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. |
5. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
6. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
7. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:12477932 | PMID:14610273 | PMID:14681479 | PMID:15782199 | PMID:16141072 | PMID:16141073 | PMID:21677750 | PMID:21873635 |
PMID:30759996 | PMID:32313871 | PMID:32325033 | PMID:32968282 | PMID:38355793 |
Bola3 (Mus musculus - house mouse) |
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BOLA3 (Homo sapiens - human) |
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Bola3 (Rattus norvegicus - Norway rat) |
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Bola3 (Chinchilla lanigera - long-tailed chinchilla) |
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BOLA3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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BOLA3 (Canis lupus familiaris - dog) |
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Bola3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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BOLA3 (Sus scrofa - pig) |
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BOLA3 (Chlorocebus sabaeus - green monkey) |
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Bola3 (Heterocephalus glaber - naked mole-rat) |
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Variants in Bola3
261 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 |
RefSeq Transcripts | NM_001363772 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001363773 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_175277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017321834 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036152401 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC159713 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK019037 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK028102 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK131950 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK160488 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK161878 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK213244 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK218122 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC049748 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC116947 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC116949 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CF981442 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466523 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CO039842 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSMUST00000055875 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000120040 ⟹ ENSMUSP00000112582 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000122216 ⟹ ENSMUSP00000113439 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000127769 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000133122 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000134765 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000136501 ⟹ ENSMUSP00000118348 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000148875 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000151329 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001363772 ⟹ NP_001350701 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001363773 ⟹ NP_001350702 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_175277 ⟹ NP_780486 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017321834 ⟹ XP_017177323 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036152401 ⟹ XP_036008294 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001350701 | (Get FASTA) | NCBI Sequence Viewer |
NP_001350702 | (Get FASTA) | NCBI Sequence Viewer | |
NP_780486 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017177323 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036008294 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAI16948 | (Get FASTA) | NCBI Sequence Viewer |
AAI16950 | (Get FASTA) | NCBI Sequence Viewer | |
BAC25747 | (Get FASTA) | NCBI Sequence Viewer | |
BAE20895 | (Get FASTA) | NCBI Sequence Viewer | |
BAE35819 | (Get FASTA) | NCBI Sequence Viewer | |
BAE36620 | (Get FASTA) | NCBI Sequence Viewer | |
EDK99079 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000112582 | ||
ENSMUSP00000112582.2 | |||
ENSMUSP00000113439 | |||
ENSMUSP00000113439.2 | |||
ENSMUSP00000118348 | |||
ENSMUSP00000118348.2 | |||
GenBank Protein | Q8CEI1 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_780486 ⟸ NM_175277 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q8CEI1 (UniProtKB/Swiss-Prot), Q14A77 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_017177323 ⟸ XM_017321834 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | NP_001350701 ⟸ NM_001363772 |
- Peptide Label: | isoform 2 |
- UniProtKB: | E9Q705 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001350702 ⟸ NM_001363773 |
- Peptide Label: | isoform 3 |
- UniProtKB: | E9PX89 (UniProtKB/TrEMBL) |
Ensembl Acc Id: | ENSMUSP00000112582 ⟸ ENSMUST00000120040 |
Ensembl Acc Id: | ENSMUSP00000118348 ⟸ ENSMUST00000136501 |
Ensembl Acc Id: | ENSMUSP00000113439 ⟸ ENSMUST00000122216 |
RefSeq Acc Id: | XP_036008294 ⟸ XM_036152401 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8CEI1-F1-model_v2 | AlphaFold | Q8CEI1 | 1-110 | view protein structure |
RGD ID: | 6838994 | ||||||||
Promoter ID: | MM_KWN:46605 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day3, 3T3L1_Day6, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B6, Spleen | ||||||||
Transcripts: | ENSMUST00000120040, ENSMUST00000122216, OTTMUST00000066753, OTTMUST00000066756, OTTMUST00000066757 | ||||||||
Position: |
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RGD ID: | 6838996 | ||||||||
Promoter ID: | MM_KWN:46606 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day1, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, MEF_B6 | ||||||||
Transcripts: | OTTMUST00000066758, OTTMUST00000066759 | ||||||||
Position: |
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RGD ID: | 6838995 | ||||||||
Promoter ID: | MM_KWN:46607 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day2, BoneMarrow_0Hour, Spleen | ||||||||
Transcripts: | OTTMUST00000066760 | ||||||||
Position: |
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RGD ID: | 6838998 | ||||||||
Promoter ID: | MM_KWN:46608 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | BoneMarrow_0Hour, Brain, Kidney | ||||||||
Transcripts: | OTTMUST00000066761 | ||||||||
Position: |
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RGD ID: | 6890160 | ||||||||
Promoter ID: | EPDNEW_M8531 | ||||||||
Type: | initiation region | ||||||||
Name: | Bola3_1 | ||||||||
Description: | Mus musculus bolA-like 3 , 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:1925903 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000045160 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000120040 | ENTREZGENE |
ENSMUST00000120040.8 | UniProtKB/TrEMBL | |
ENSMUST00000122216 | ENTREZGENE | |
ENSMUST00000122216.8 | UniProtKB/TrEMBL | |
ENSMUST00000136501 | ENTREZGENE | |
ENSMUST00000136501.2 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.30.300.90 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
InterPro | BolA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
BolA-like_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Mt_Fe-S_assembly_factor | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:78653 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
MGD | MGI:1925903 | ENTREZGENE |
NCBI Gene | 78653 | ENTREZGENE |
PANTHER | BOLA-LIKE PROTEIN 3 | UniProtKB/Swiss-Prot |
BOLA-LIKE PROTEIN 3 | UniProtKB/Swiss-Prot | |
BOLA-LIKE PROTEIN 3 | UniProtKB/TrEMBL | |
BOLA-LIKE PROTEIN 3 | UniProtKB/TrEMBL | |
Pfam | BolA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Bola3 | PhenoGen |
PIRSF | BolA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF82657 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | BOLA3_MOUSE | UniProtKB/Swiss-Prot |
E9PX89 | ENTREZGENE, UniProtKB/TrEMBL | |
E9Q705 | ENTREZGENE, UniProtKB/TrEMBL | |
Q14A77 | ENTREZGENE, UniProtKB/TrEMBL | |
Q3TSQ5_MOUSE | UniProtKB/TrEMBL | |
Q8CEI1 | ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2023-07-04 | Bola3 | bolA family member 3 | Bola3 | bolA-like 3 (E. coli) | Symbol and/or name change | 5135510 | APPROVED |