Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Mib1 | Mouse | Left Ventricular Noncompaction 7 | | ISO | MIB1 (Homo sapiens) | 7240710 | | OMIM | | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Mib1 | Mouse | Left Ventricular Noncompaction 7 | | ISO | MIB1 (Homo sapiens) | 7240710 | | OMIM | | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| # | Reference Title | Reference Citation |
| 1. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 2. | MGD IEA | MGD IEA |
| 3. | 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. |
| 4. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 5. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 6. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 7. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 8. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| PMID:8889548 | PMID:10349636 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12351649 | PMID:12477932 | PMID:12520002 | PMID:12530964 | PMID:14610273 | PMID:14621295 |
| PMID:15489334 | PMID:15824097 | PMID:16000382 | PMID:16061358 | PMID:16141072 | PMID:16141073 | PMID:16857196 | PMID:17003037 | PMID:17397913 | PMID:17728463 | PMID:17987667 | PMID:18043734 |
| PMID:18498734 | PMID:18505817 | PMID:18818392 | PMID:18824586 | PMID:19015276 | PMID:19710364 | PMID:19855135 | PMID:20018188 | PMID:20506192 | PMID:21267068 | PMID:21624809 | PMID:21677750 |
| PMID:21873635 | PMID:21875946 | PMID:21903422 | PMID:21985982 | PMID:22529374 | PMID:22558446 | PMID:23111145 | PMID:23162128 | PMID:23223237 | PMID:23314057 | PMID:23478405 | PMID:23988635 |
| PMID:24068960 | PMID:24952961 | PMID:25347788 | PMID:25594189 | PMID:25658372 | PMID:25918341 | PMID:26147083 | PMID:26496610 | PMID:27056911 | PMID:27407072 | PMID:28402857 | PMID:28808228 |
| PMID:29956664 | PMID:30093553 | PMID:30590051 | PMID:31073041 | PMID:31138677 | PMID:32059775 | PMID:32325033 | PMID:33637766 | PMID:33892704 | PMID:34321999 | PMID:34838591 | PMID:36325906 |
| PMID:39057643 | PMID:40183391 | PMID:40334239 | PMID:40558659 |
| Mib1 (Mus musculus - house mouse) |
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| MIB1 (Homo sapiens - human) |
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| Mib1 (Rattus norvegicus - Norway rat) |
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| Mib1 (Chinchilla lanigera - long-tailed chinchilla) |
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| MIB1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| MIB1 (Canis lupus familiaris - dog) |
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| Mib1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| MIB1 (Sus scrofa - pig) |
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| MIB1 (Chlorocebus sabaeus - green monkey) |
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| Mib1 (Heterocephalus glaber - naked mole-rat) |
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| Mib1 (Rattus rattus - black rat) |
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Variants in Mib1
2558 total Variants
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| 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. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| RH126294 |
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| UniSTS:224884 |
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| RefSeq Transcripts | NM_001364997 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_144860 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006525811 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_004939840 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_004939841 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_004939842 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC105947 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AC140316 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK047045 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK047455 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK048082 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK053011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK053035 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK079855 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK080083 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK080847 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK081370 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK088539 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK129331 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK139338 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK153523 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK161848 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AY147848 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AY149907 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AY245539 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AY974091 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC011287 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC083072 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC131662 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH466592 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSMUST00000052838 ⟹ ENSMUSP00000054428 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSMUST00000124288 ⟹ ENSMUSP00000114289 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSMUST00000131073 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSMUST00000150000 ⟹ ENSMUSP00000122879 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSMUST00000165555 ⟹ ENSMUSP00000131712 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSMUST00000234047 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | NM_001364997 ⟹ NP_001351926 | ||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | NM_144860 ⟹ NP_659109 | ||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_006525811 ⟹ XP_006525874 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XR_004939840 | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XR_004939841 | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XR_004939842 | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
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| Sequence: |
| Protein RefSeqs | NP_001351926 | (Get FASTA) | NCBI Sequence Viewer |
| NP_659109 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006525874 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAH11287 | (Get FASTA) | NCBI Sequence Viewer |
| AAH83072 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI31663 | (Get FASTA) | NCBI Sequence Viewer | |
| AAN18022 | (Get FASTA) | NCBI Sequence Viewer | |
| AAN75492 | (Get FASTA) | NCBI Sequence Viewer | |
| AAO91933 | (Get FASTA) | NCBI Sequence Viewer | |
| AAX84653 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC35245 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC38042 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC98141 | (Get FASTA) | NCBI Sequence Viewer | |
| BAE23964 | (Get FASTA) | NCBI Sequence Viewer | |
| BAE36604 | (Get FASTA) | NCBI Sequence Viewer | |
| EDL22989 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSMUSP00000054428 | ||
| ENSMUSP00000054428.5 | |||
| GenBank Protein | Q80SY4 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_659109 ⟸ NM_144860 |
| - UniProtKB: | Q8C6W2 (UniProtKB/Swiss-Prot), Q8BNR1 (UniProtKB/Swiss-Prot), Q6ZPT8 (UniProtKB/Swiss-Prot), Q6YI52 (UniProtKB/Swiss-Prot), Q6IS57 (UniProtKB/Swiss-Prot), Q5XK51 (UniProtKB/Swiss-Prot), Q921Q1 (UniProtKB/Swiss-Prot), Q80SY4 (UniProtKB/Swiss-Prot), A2RRJ6 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_006525874 ⟸ XM_006525811 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q8C6W2 (UniProtKB/Swiss-Prot), Q8BNR1 (UniProtKB/Swiss-Prot), Q6ZPT8 (UniProtKB/Swiss-Prot), Q6YI52 (UniProtKB/Swiss-Prot), Q6IS57 (UniProtKB/Swiss-Prot), Q5XK51 (UniProtKB/Swiss-Prot), Q921Q1 (UniProtKB/Swiss-Prot), Q80SY4 (UniProtKB/Swiss-Prot), A2RRJ6 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | NP_001351926 ⟸ NM_001364997 |
| - UniProtKB: | Q8C6W2 (UniProtKB/Swiss-Prot), Q8BNR1 (UniProtKB/Swiss-Prot), Q80SY4 (UniProtKB/Swiss-Prot), Q6ZPT8 (UniProtKB/Swiss-Prot), Q6YI52 (UniProtKB/Swiss-Prot), Q6IS57 (UniProtKB/Swiss-Prot), Q5XK51 (UniProtKB/Swiss-Prot), Q921Q1 (UniProtKB/Swiss-Prot), A2RRJ6 (UniProtKB/TrEMBL) |
| Ensembl Acc Id: | ENSMUSP00000054428 ⟸ ENSMUST00000052838 |
| Ensembl Acc Id: | ENSMUSP00000122879 ⟸ ENSMUST00000150000 |
| Ensembl Acc Id: | ENSMUSP00000114289 ⟸ ENSMUST00000124288 |
| Ensembl Acc Id: | ENSMUSP00000131712 ⟸ ENSMUST00000165555 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-Q80SY4-F1-model_v2 | AlphaFold | Q80SY4 | 1-1006 | view protein structure |
| RGD ID: | 6829367 | ||||||||
| Promoter ID: | MM_KWN:24582 | ||||||||
| 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 | ||||||||
| Transcripts: | OTTMUST00000070815, UC008EBB.1 | ||||||||
| Position: |
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| RGD ID: | 13677098 | ||||||||
| Promoter ID: | EPDNEW_M22698 | ||||||||
| Type: | initiation region | ||||||||
| Name: | Mib1_1 | ||||||||
| Description: | Mus musculus mindbomb E3 ubiquitin protein ligase 1 , 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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| RGD ID: | 6829366 | ||||||||
| Promoter ID: | MM_KWN:24586 | ||||||||
| Type: | Non-CpG | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | MPROMDB | ||||||||
| Tissues & Cell Lines: | Brain | ||||||||
| Transcripts: | UC008EBF.1 | ||||||||
| Position: |
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| Database | Acc Id | Source(s) |
| AGR Gene | MGI:2443157 | AgrOrtholog |
| Ensembl Genes | ENSMUSG00000024294 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Transcript | ENSMUST00000052838 | ENTREZGENE |
| ENSMUST00000052838.11 | UniProtKB/Swiss-Prot | |
| Gene3D-CATH | 1.25.40.20 | UniProtKB/Swiss-Prot |
| 3.30.40.10 | UniProtKB/Swiss-Prot | |
| 3.30.60.90 | UniProtKB/Swiss-Prot | |
| SH3 Domains | UniProtKB/Swiss-Prot | |
| InterPro | Ankyrin_rpt | UniProtKB/Swiss-Prot |
| Ankyrin_rpt-contain_sf | UniProtKB/Swiss-Prot | |
| MIB1/2_ZZ | UniProtKB/Swiss-Prot | |
| Mib_Herc2 | UniProtKB/Swiss-Prot | |
| Mib_Herc2_sf | UniProtKB/Swiss-Prot | |
| SH3_15 | UniProtKB/Swiss-Prot | |
| Znf_RING | UniProtKB/Swiss-Prot | |
| Znf_RING/FYVE/PHD | UniProtKB/Swiss-Prot | |
| Znf_ZZ | UniProtKB/Swiss-Prot | |
| Znf_ZZ_sf | UniProtKB/Swiss-Prot | |
| KEGG Report | mmu:225164 | UniProtKB/Swiss-Prot |
| MGD | MGI:2443157 | ENTREZGENE |
| NCBI Gene | 225164 | ENTREZGENE |
| PANTHER | E3 UBIQUITIN-PROTEIN LIGASE MIB1 | UniProtKB/Swiss-Prot |
| E3 UBIQUITIN-PROTEIN LIGASE MIB2 | UniProtKB/Swiss-Prot | |
| Pfam | Ank | UniProtKB/Swiss-Prot |
| Ank_2 | UniProtKB/Swiss-Prot | |
| MIB_HERC2 | UniProtKB/Swiss-Prot | |
| PF00569 | UniProtKB/Swiss-Prot | |
| SH3_15 | UniProtKB/Swiss-Prot | |
| zf-C3HC4_3 | UniProtKB/Swiss-Prot | |
| PhenoGen | Mib1 | PhenoGen |
| PRINTS | ANKYRIN | UniProtKB/Swiss-Prot |
| PROSITE | ANK_REP_REGION | UniProtKB/Swiss-Prot |
| ANK_REPEAT | UniProtKB/Swiss-Prot | |
| MIB_HERC2 | UniProtKB/Swiss-Prot | |
| ZF_RING_2 | UniProtKB/Swiss-Prot | |
| ZF_ZZ_1 | UniProtKB/Swiss-Prot | |
| ZF_ZZ_2 | UniProtKB/Swiss-Prot | |
| SMART | ANK | UniProtKB/Swiss-Prot |
| RING | UniProtKB/Swiss-Prot | |
| ZnF_ZZ | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | RING/U-box | UniProtKB/Swiss-Prot |
| SSF159034 | UniProtKB/Swiss-Prot | |
| SSF48403 | UniProtKB/Swiss-Prot | |
| UniProt | A2RRJ6 | ENTREZGENE, UniProtKB/TrEMBL |
| F6YFW9_MOUSE | UniProtKB/TrEMBL | |
| F6ZBL2_MOUSE | UniProtKB/TrEMBL | |
| MIB1_MOUSE | UniProtKB/Swiss-Prot | |
| Q3TSS1_MOUSE | UniProtKB/TrEMBL | |
| Q3UTL6_MOUSE | UniProtKB/TrEMBL | |
| Q5XK51 | ENTREZGENE | |
| Q6IS57 | ENTREZGENE | |
| Q6YI52 | ENTREZGENE | |
| Q6ZPT8 | ENTREZGENE | |
| Q80SY4 | ENTREZGENE | |
| Q8BNR1 | ENTREZGENE | |
| Q8C6W2 | ENTREZGENE | |
| Q921Q1 | ENTREZGENE | |
| UniProt Secondary | Q5XK51 | UniProtKB/Swiss-Prot |
| Q6IS57 | UniProtKB/Swiss-Prot | |
| Q6YI52 | UniProtKB/Swiss-Prot | |
| Q6ZPT8 | UniProtKB/Swiss-Prot | |
| Q8BNR1 | UniProtKB/Swiss-Prot | |
| Q8C6W2 | UniProtKB/Swiss-Prot | |
| Q921Q1 | UniProtKB/Swiss-Prot |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2022-02-02 | Mib1 | MIB E3 ubiquitin protein ligase 1 | Mib1 | mindbomb E3 ubiquitin protein ligase 1 | Symbol and/or name change | 5135510 | APPROVED |
| 2016-02-17 | Mib1 | mindbomb E3 ubiquitin protein ligase 1 | mindbomb homolog 1 (Drosophila) | Symbol and/or name change | 5135510 | APPROVED |