Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | combined oxidative phosphorylation deficiency 51 | | ISO | PTCD3 (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 51 | | ISO | PTCD3 (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. | Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. | Ko MS, etal., Development 2000 Apr;127(8):1737-49. |
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. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
5. | 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:12904583 | PMID:14610273 | PMID:16141072 | PMID:16141073 | PMID:17967808 | PMID:18614015 | PMID:18799693 |
PMID:21267068 | PMID:21873635 | PMID:24194600 | PMID:25838379 | PMID:27023846 | PMID:27480124 | PMID:28378742 | PMID:30550785 | PMID:32325033 | PMID:32554809 | PMID:32581705 | PMID:34133714 |
PMID:36114006 | PMID:36417873 |
Ptcd3 (Mus musculus - house mouse) |
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PTCD3 (Homo sapiens - human) |
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Ptcd3 (Rattus norvegicus - Norway rat) |
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Ptcd3 (Chinchilla lanigera - long-tailed chinchilla) |
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PTCD3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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PTCD3 (Canis lupus familiaris - dog) |
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Ptcd3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PTCD3 (Sus scrofa - pig) |
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PTCD3 (Chlorocebus sabaeus - green monkey) |
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Ptcd3 (Heterocephalus glaber - naked mole-rat) |
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Variants in Ptcd3
940 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 |
AU045708 |
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RH125021 |
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RefSeq Transcripts | NM_001362068 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001362069 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_027275 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_155284 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_155285 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006506574 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011241461 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001785164 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001785166 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001785167 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_868886 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_868888 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC122200 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK011665 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK013131 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK032831 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK146005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK146172 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK172480 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BB844000 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC026759 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC055844 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC060687 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC068263 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC084595 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC115434 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BF020753 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466523 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000082094 ⟹ ENSMUSP00000080743 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000205269 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000205293 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000205420 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000205556 ⟹ ENSMUSP00000145813 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000205691 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000205761 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000206284 ⟹ ENSMUSP00000145566 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000206631 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000206762 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000206879 ⟹ ENSMUSP00000146260 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001362068 ⟹ NP_001348997 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001362069 ⟹ NP_001348998 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_027275 ⟹ NP_081551 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_155284 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_155285 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006506574 ⟹ XP_006506637 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011241461 ⟹ XP_011239763 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_001785164 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_001785166 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_001785167 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_868886 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_868888 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001348997 | (Get FASTA) | NCBI Sequence Viewer |
NP_001348998 | (Get FASTA) | NCBI Sequence Viewer | |
NP_081551 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006506637 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011239763 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH60687 | (Get FASTA) | NCBI Sequence Viewer |
AAH68263 | (Get FASTA) | NCBI Sequence Viewer | |
AAH84595 | (Get FASTA) | NCBI Sequence Viewer | |
AAI15435 | (Get FASTA) | NCBI Sequence Viewer | |
BAB28668 | (Get FASTA) | NCBI Sequence Viewer | |
BAC28047 | (Get FASTA) | NCBI Sequence Viewer | |
BAE26826 | (Get FASTA) | NCBI Sequence Viewer | |
BAE26951 | (Get FASTA) | NCBI Sequence Viewer | |
EDK98956 | (Get FASTA) | NCBI Sequence Viewer | |
EDK98957 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000080743 | ||
ENSMUSP00000080743.3 | |||
ENSMUSP00000145566.2 | |||
ENSMUSP00000145813.2 | |||
ENSMUSP00000146260.2 | |||
GenBank Protein | Q14C51 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_081551 ⟸ NM_027275 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | Q6P9N5 (UniProtKB/Swiss-Prot), Q5XG65 (UniProtKB/Swiss-Prot), Q3UKH5 (UniProtKB/Swiss-Prot), Q9CZ12 (UniProtKB/Swiss-Prot), Q14C51 (UniProtKB/Swiss-Prot), Q3UK51 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006506637 ⟸ XM_006506574 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_011239763 ⟸ XM_011241461 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | NP_001348998 ⟸ NM_001362069 |
- Peptide Label: | isoform 3 precursor |
- UniProtKB: | Q3UK51 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001348997 ⟸ NM_001362068 |
- Peptide Label: | isoform 2 precursor |
- UniProtKB: | Q3UK51 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSMUSP00000146260 ⟸ ENSMUST00000206879 |
RefSeq Acc Id: | ENSMUSP00000145566 ⟸ ENSMUST00000206284 |
RefSeq Acc Id: | ENSMUSP00000145813 ⟸ ENSMUST00000205556 |
RefSeq Acc Id: | ENSMUSP00000080743 ⟸ ENSMUST00000082094 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q14C51-F1-model_v2 | AlphaFold | Q14C51 | 1-685 | view protein structure |
RGD ID: | 6839828 | ||||||||
Promoter ID: | MM_KWN:46438 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day2, 3T3L1_Day3, 3T3L1_Day4, BoneMarrow_0Hour, Brain, Kidney, Lung, MEF_B6 | ||||||||
Transcripts: | ENSMUST00000116815, UC009CHP.1 | ||||||||
Position: |
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RGD ID: | 6839819 | ||||||||
Promoter ID: | MM_KWN:46439 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day3, 3T3L1_Day4, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6, Spleen | ||||||||
Transcripts: | ENSMUST00000082094, NM_027275, UC009CHR.1, UC009CHS.1, UC009CHT.1, UC009CHU.1, UC009CHV.1 | ||||||||
Position: |
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RGD ID: | 6889990 | ||||||||
Promoter ID: | EPDNEW_M8446 | ||||||||
Type: | single initiation site | ||||||||
Name: | Ptcd3_2 | ||||||||
Description: | Mus musculus pentatricopeptide repeat domain 3 , transcript variant4, non-coding RNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M8447 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6889992 | ||||||||
Promoter ID: | EPDNEW_M8447 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Ptcd3_1 | ||||||||
Description: | Mus musculus pentatricopeptide repeat domain 3 , transcript variant4, non-coding RNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M8446 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:1917206 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000063884 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000082094 | ENTREZGENE |
ENSMUST00000082094.5 | UniProtKB/Swiss-Prot | |
ENSMUST00000205556.2 | UniProtKB/TrEMBL | |
ENSMUST00000206284.2 | UniProtKB/TrEMBL | |
ENSMUST00000206879 | ENTREZGENE | |
ENSMUST00000206879.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.25.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
InterPro | Pentatricopeptide_repeat | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTCD3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TPR-like_helical_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:69956 | UniProtKB/Swiss-Prot |
MGD | MGI:1917206 | ENTREZGENE |
NCBI Gene | 69956 | ENTREZGENE |
PANTHER | PENTATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 3, MITOCHONDRIAL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR16276 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | PPR_3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Ptcd3 | PhenoGen |
PROSITE | PPR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A0U1RNH5_MOUSE | UniProtKB/TrEMBL |
A0A0U1RP36_MOUSE | UniProtKB/TrEMBL | |
A0A0U1RQ61_MOUSE | UniProtKB/TrEMBL | |
PTCD3_MOUSE | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q3UK51 | ENTREZGENE, UniProtKB/TrEMBL | |
Q3UKH5 | ENTREZGENE | |
Q5XG65 | ENTREZGENE | |
Q6NV85_MOUSE | UniProtKB/TrEMBL | |
Q6P9N5 | ENTREZGENE | |
Q8BSI7_MOUSE | UniProtKB/TrEMBL | |
Q9CZ12 | ENTREZGENE | |
UniProt Secondary | Q3UKH5 | UniProtKB/Swiss-Prot |
Q5XG65 | UniProtKB/Swiss-Prot | |
Q6P9N5 | UniProtKB/Swiss-Prot | |
Q9CZ12 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-04-05 | Ptcd3 | pentatricopeptide repeat domain 3 | AA589622 | EST AA589622 | Data merged from RGD:1610912 | 737654 | PROVISIONAL |