Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | combined oxidative phosphorylation deficiency 57 | | ISO | CRLS1 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | combined oxidative phosphorylation deficiency 57 | | ISO | CRLS1 (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. | MGDs mouse GO annotations | MGD data from the GO Consortium |
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. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
5. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
6. | Metabolism and function of mitochondrial cardiolipin. | Ren M, etal., Prog Lipid Res. 2014 Jul;55:1-16. doi: 10.1016/j.plipres.2014.04.001. Epub 2014 Apr 24. |
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:10349636 | PMID:11042159 | PMID:11076861 | PMID:12477932 | PMID:14610273 | PMID:14681479 | PMID:15489334 | PMID:16141072 | PMID:16141073 | PMID:18454555 | PMID:18614015 | PMID:20652826 |
PMID:21267068 | PMID:21677750 | PMID:21873635 | PMID:22584571 | PMID:24703837 | PMID:28378742 | PMID:29539633 | PMID:29861389 | PMID:30550785 | PMID:30973865 | PMID:31914590 | PMID:32096565 |
PMID:33913477 |
Crls1 (Mus musculus - house mouse) |
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CRLS1 (Homo sapiens - human) |
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Crls1 (Rattus norvegicus - Norway rat) |
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Crls1 (Chinchilla lanigera - long-tailed chinchilla) |
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CRLS1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CRLS1 (Canis lupus familiaris - dog) |
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Crls1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CRLS1 (Sus scrofa - pig) |
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CRLS1 (Chlorocebus sabaeus - green monkey) |
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Crls1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Crls1
838 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 |
UniSTS:234539 |
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Crls1 |
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RefSeq Transcripts | NM_001024385 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_025646 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006500012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_866333 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AK002408 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK004215 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK016165 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK017718 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK018180 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL929562 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC048702 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC086619 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466519 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000028835 ⟹ ENSMUSP00000028835 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000110122 ⟹ ENSMUSP00000105749 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000124834 ⟹ ENSMUSP00000129509 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000124836 ⟹ ENSMUSP00000132682 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000154160 ⟹ ENSMUSP00000129137 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001024385 ⟹ NP_001019556 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_025646 ⟹ NP_079922 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006500012 ⟹ XP_006500075 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_866333 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001019556 | (Get FASTA) | NCBI Sequence Viewer |
NP_079922 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006500075 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH48702 | (Get FASTA) | NCBI Sequence Viewer |
BAB30134 | (Get FASTA) | NCBI Sequence Viewer | |
EDL28365 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000028835 | ||
ENSMUSP00000028835.7 | |||
ENSMUSP00000105749.4 | |||
ENSMUSP00000129137 | |||
ENSMUSP00000129137.2 | |||
ENSMUSP00000129509.2 | |||
ENSMUSP00000132682 | |||
ENSMUSP00000132682.2 | |||
GenBank Protein | Q80ZM8 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001019556 ⟸ NM_001024385 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q9D4U1 (UniProtKB/Swiss-Prot), Q80ZM8 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_079922 ⟸ NM_025646 |
- Peptide Label: | isoform 2 |
- UniProtKB: | A0A0C3SFZ5 (UniProtKB/TrEMBL), E9PYF8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006500075 ⟸ XM_006500012 |
- Peptide Label: | isoform X1 |
- UniProtKB: | E9PYF8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSMUSP00000105749 ⟸ ENSMUST00000110122 |
RefSeq Acc Id: | ENSMUSP00000132682 ⟸ ENSMUST00000124836 |
RefSeq Acc Id: | ENSMUSP00000129509 ⟸ ENSMUST00000124834 |
RefSeq Acc Id: | ENSMUSP00000028835 ⟸ ENSMUST00000028835 |
RefSeq Acc Id: | ENSMUSP00000129137 ⟸ ENSMUST00000154160 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q80ZM8-F1-model_v2 | AlphaFold | Q80ZM8 | 1-303 | view protein structure |
RGD ID: | 6831076 | ||||||||
Promoter ID: | MM_KWN:31873 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day3, 3T3L1_Day4, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, ES_Cell, Liver, Lung, MEF_B4 | ||||||||
Transcripts: | ENSMUST00000028835, UC008MNL.1 | ||||||||
Position: |
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RGD ID: | 6831108 | ||||||||
Promoter ID: | MM_KWN:31874 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Brain, Kidney, Liver, MEF_B6, Spleen | ||||||||
Transcripts: | NM_025646, OTTMUST00000037220, OTTMUST00000037226 | ||||||||
Position: |
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RGD ID: | 6878868 | ||||||||
Promoter ID: | EPDNEW_M2885 | ||||||||
Type: | initiation region | ||||||||
Name: | Crls1_1 | ||||||||
Description: | Mus musculus cardiolipin synthase 1 , transcript variant 2, 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:1913836 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000027357 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000028835 | ENTREZGENE |
ENSMUST00000028835.13 | UniProtKB/Swiss-Prot | |
ENSMUST00000110122.10 | UniProtKB/TrEMBL | |
ENSMUST00000124834 | ENTREZGENE | |
ENSMUST00000124834.8 | UniProtKB/TrEMBL | |
ENSMUST00000124836 | ENTREZGENE | |
ENSMUST00000124836.8 | UniProtKB/TrEMBL | |
ENSMUST00000154160 | ENTREZGENE | |
ENSMUST00000154160.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.120.1760 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
InterPro | CDP-OH_P_trans | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
CDP-OH_PTrfase_TM_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Phosphatidylglycerol_P_synth | UniProtKB/TrEMBL | |
KEGG Report | mmu:66586 | UniProtKB/Swiss-Prot |
MGD | MGI:1913836 | ENTREZGENE |
NCBI Gene | 66586 | ENTREZGENE |
PANTHER | CARDIOLIPIN SYNTHASE (CMP-FORMING) | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
CDP-DIACYLGLYCEROL--GLYCEROL-3-PHOSPHATE 3-PHOSPHATIDYLTRANSFERASE-RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | CDP-OH_P_transf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Crls1 | PhenoGen |
PIRSF | Phos_ph_gly_syn | UniProtKB/TrEMBL |
UniProt | A0A0C3SFZ5 | ENTREZGENE, UniProtKB/TrEMBL |
CRLS1_MOUSE | UniProtKB/Swiss-Prot | |
E9PUH6_MOUSE | UniProtKB/TrEMBL | |
E9PUW6_MOUSE | UniProtKB/TrEMBL | |
E9PYF8 | ENTREZGENE, UniProtKB/TrEMBL | |
Q80ZM8 | ENTREZGENE | |
Q9D4U1 | ENTREZGENE | |
UniProt Secondary | Q9D4U1 | UniProtKB/Swiss-Prot |